essay about genetics subject

204 Genetics Research Topics & Essay Questions for College and High School

Genetics studies how genes and traits pass from generation to generation. It has practical applications in many areas, such as genetic engineering, gene therapy, gene editing, and genetic testing. If you’re looking for exciting genetics topics for presentation, you’re at the right place! Here are genetics research paper topics and ideas for different assignments.

🧬 TOP 7 Genetics Topics for Presentation 2024

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Advantages and Disadvantages of Genetic Testing
Should Parents Have the Right to Choose Their Children Based on Genetics?
The Potential Benefits of Genetic Engineering
Cause and Effect of Genetically Modified Food
Genetically Modified Pineapples and Their Benefits
The Importance of Heredity and Genetics
Link Between Obesity and Genetics
Simulating the Natural Selection and Genetic Drift This lab was aimed at simulating the natural selection and genetic drift as well as predicting their frequency of evolution change.
Genetic and Social Behavioral Learning Theories Learning and behavioral habits in human beings can be influenced by social, environmental and genetic factors. Genetic theory describes how genes help in shaping human behaviors.
Genetically Modified Food as a Current Issue GM foods are those kinds of food items that have had their DNA changed by usual breeding; this process is also referred to as Genetic Engineering.
Genetic and Environmental Impacts on Teaching Work If students do not adopt learning materials and the fundamentals of the curriculum well, this is a reason for reviewing the current educational regimen.
Ban on Genetically Modified Foods Genetically modified (GM) foods are those that are produced with the help of genetic engineering. Such foods are created from organisms with changed DNA.
Genetic and Environmental Factors Causing Alcoholism and Effects of Alcohol Abuse The term alcoholism may be used to refer to a wide range of issues associated with alcohol. Simply put, it is a situation whereby an individual cannot stay without alcohol.
Benefits of Genetic Engineering The potential increase of people’s physical characteristics and lifespan may be regarded as another advantage of genetic engineering.
Genetically Modified Organisms: Pros and Cons Genetically modified organisms are organisms that are created after combining DNA from a different species into an organism to come up with a transgenic organism.
Behavioral Genetics in “Harry Potter” Books The reverberations of the Theory of Behavioral Genetics permeate the Harry Potter book series, enabling to achieve the comprehension of characters and their behaviors.
Genetic Engineering: Dangers and Opportunities Genetic engineering can be defined as: “An artificial modification of the genetic code of an organism. It changes radically the physical nature of the being in question.
Mendelian Genetics and Chlorophyll in Plants This paper investigates Mendelian genetics. This lab report will examine the importance of chlorophyll in plants using fast plants’ leaves and stems.
A Career in Genetics: Required Skills and Knowledge A few decades ago, genetics was mostly a science-related sphere of employment. People with a degree in genetics can have solid career prospects in medicine and even agriculture.
GMO Use in Brazil and Other Countries The introduction of biotechnology into food production was a milestone. Brazil is one of the countries that are increasingly using GMOs for food production.
Literature Review: Acceptability of Genetic Engineering The risks and benefits of genetic engineering must be objectively evaluated so that modern community could have a better understanding of this problem
Genetics of Developmental Disabilities The aim of the essay is to explore the genetic causes of DDs, especially dyslexia, and the effectiveness of DNA modification in the treatment of these disorders.
Genomics, Genetics, and Nursing Involvement The terms genomics and genetics refer to the study of genetic material. In many cases, the words are erroneously used interchangeably.
Genetic and Genomic Healthcare: Nurses Ethical Issues Genomic medicine is one of the most significant ways of tailoring healthcare at a personal level. This paper will explore nursing ethics concerning genetic information.
Relation Between Genetics and Intelligence Intelligence is a mental ability to learn from experience, tackle issues and use knowledge to adapt to new situations and the factor g may access intelligence of a person.
Does Genetic Predisposition Affect Learning in Other Disciplines? This paper aims to examine each person’s ability to study a discipline for which there is no genetic ability and to understand how effective it is.
Genetic Engineering: Cloning With Pet-28A Embedding genes into plasmid vectors is an integral part of molecular cloning as part of genetic engineering. An example is the cloning of the pectate lyase gene.
Human Genetics: Multifactorial Traits This essay states that multifactorial traits in human beings are essential for distinguishing individual characteristics in a population.
Impacts of Genetic Engineering of Agricultural Crops In present days the importance of genetic engineering grew due to the innovations in biotechnologies and Sciences.
GMO: Some Peculiarities and Associated Concerns Genetically modified organisms are created through the insertion of genes of other species into their genetic codes.
Genetics Seminar: The Importance of Dna Roles DNA has to be stable. In general, its stability becomes possible due to a large number of hydrogen bonds which make DNA strands more stable.
Nutrition: Obesity Pandemic and Genetic Code The environment in which we access the food we consume has changed. Unhealthy foods are cheaper, and there is no motivation to eat healthily.
DNA and the Birth of Molecular Genetics Molecular genetics is critical in studying traits that are passed through generations. The paper analyzes the role of DNA to provide an ample understanding of molecular genetics.
The Concept of Epigenetics Epigenetics is a study of heritable phenotypic changes or gene expression in cells that are caused by mechanisms other than DNA sequence.
Technology of Synthesis of Genetically Modified Insulin The work summarizes the technology for obtaining genetically modified insulin by manipulating the E. coli genome.
Autism Spectrum Disorder in Twins: Genetics Study Autism spectrum disorder is a behavioral condition caused by genetic and environmental factors. Twin studies have been used to explain the hereditary nature of this condition.
Genetically Modified Organisms: Position Against Genetically modified organisms are organisms that are created after combining DNAs of different species to come up with a transgenic organism.
Genetic Engineering: Gene Therapy The purpose of the present study is to discover just what benefits gene therapy might have to offer present and future generations.
How Much Do Genetics Affect Us?
What Can Livestock Breeders Learn From Conservation Genetics and Vice Versa?
How Do Genetics Affect Caffeine Tolerance?
How Dolly Sheep Changed Genetics Forever?
What Is the Nature and Function of Genetics?
What Are the Five Branches of Genetics?
How Does Genetics Affect the Achievement of Food Security?
Are Owls and Larks Different in Genetics When It Comes to Aggression?
How Do Neuroscience and Behavioral Genetics Improve Psychiatric Assessment?
How Does Genetics Influence Human Behavior?
What Are Three Common Genetics Disorders?
Can Genetics Cause Crime or Are We Presupposed?
What Are Examples of Genetics Influences?
How Do Genetics Influence Psychology?
What Traits Are Influenced by Genetics?
Why Tampering With Our Genetics Will Be Beneficial?
How Genetics and Environment Affect a Child’s Behaviors?
Which Country Is Best for Genetics Studies?
How Does the Environment Change Genetics?
Can Crop Models Identify Critical Gaps in Genetics, Environment, and Management Interactions?
How Can Drug Metabolism and Transporter Genetics Inform Psychotropic Prescribing?
Can You Change Your Genetics?
How Old Are European Genetics?
Will Benchtop Sequencers Resolve the Sequencing Trade-off in Plant Genetics?
What Can You Study in Genetics?
What Are Some Genetic Issues?
Does Genetics Matter for Disease-Related Stigma?
How Did the Drosophila Melanogaster Impact Genetics?
What Is a Genetics Specialist?
Will Genetics Destroy Sports?
Is ADHD Genetically Passed Down to Family Members? Genetic correlations between such qualities as hyperactivity and inattention allowed us to define ADHD as a spectrum disorder rather than a unitary one.
Alzheimer’s Disease: Genetic Risk and Ethical Considerations Alzheimer’s disease is a neurodegenerative disease that causes brain shrinkage and the death of brain cells. It is the most prevalent form of dementia.
Environmental Impact of Genetically Modified Crop In 1996, the commercial use of genetically modified (GM) crop production techniques had increasingly been accepted by many farmers.
Gene Transfer and Genetic Engineering Mechanisms This paper discusses gene transfer mechanisms and the different genetic engineering mechanisms. Gene transfer, a natural process, can cause variation in biological features.
Genetics in Diagnosis of Diseases Medical genetics aims to study the role of genetic factors in the etiology and pathogenesis of various human diseases.
The Morality of Selective Abortion and Genetic Screening The paper states that the morality of selective abortion and genetic screening is relative. This technology should be made available and legal.
Environmental Ethics in Genetically Modified Organisms The paper discusses genetically modified organisms. Environmental ethics is centered on the ethical dilemmas arising from human interaction with the nonhuman domain.
Detection of Genetically Modified Products Today, people are becoming more concerned about the need to protect themselves from the effects of harmful factors and to buy quality food.
Genetically Modified Organisms Solution to Global Hunger It is time for the nations to work together and solve the great challenge of feeding the population by producing sufficient food and using fewer inputs.
Restricting the Volume of Sale of Fast Foods and Genetically Modified Foods The effects of fast foods and genetically modified foods on the health of Arizona citizens are catastrophic. The control of such outlets and businesses is crucial.
Researching of Genetic Engineering DNA technology entails the sequencing, evaluation and cut-and-paste of DNA. The following paper analyzes the historical developments, techniques, applications, and controversies.
Genetically Modified Crops: Impact on Human Health The aim of this paper is to provide some information about genetically modified crops as well as highlight the negative impacts of genetically modified soybeans on human health.
Genetic Engineering Biomedical Ethics Perspectives Diverse perspectives ensure vivisection, bio, and genetic engineering activities, trying to deduce their significance in evolution, medicine, and society.
Down Syndrome: The Genetic Disorder Down syndrome is the result of a glandular or chemical disbalance in the mother at the time of gestation and of nothing else whatsoever.
Genetic Modifications: Advantages and Disadvantages Genetic modifications of fruits and vegetables played an important role in the improvement process of crops and their disease resistance, yields, eating quality and shelf life.
Genetics of Personality Disorders The genetics of different psychological disorders can vary immensely; for example, the genetic architecture of schizophrenia is quite perplexing and complex.
Labeling of Genetically Modified Products Regardless of the reasoning behind the labeling issue, it is ethical and good to label the food as obtained from genetically modified ingredients for the sake of the consumers.
Convergent Evolution, Genetics and Related Structures This paper discusses the concept of convergent evolution and related structures. Convergent evolution describes the emergence of analogous or similar traits in different species.
Genetic Technologies in the Healthcare One area where genetic technology using DNA works for the benefit of society is medicine, as it will improve the treatment and management of genetic diseases.
Are Genetically Modified Organisms Really That Bad? Almost any food can be genetically modified: meat, fruits, vegetables, etc. Many people argue that consuming products, which have GMOs may cause severe health issues.
Type 1 Diabetes in Children: Genetic and Environmental Factors The prevalence rate of type 1 diabetes in children raises the question of the role of genetic and environmental factors in the increasing cases of this illness.
Discussion of Genetic Testing Aspects The primary aim of the adoption process is to ensure that the children move into a safe and loving environment.
Ethical Concerns on Genetic Engineering The paper discusses Clustered Regularly Interspaced Short Palindromic Repeats technology. It is a biological system for modifying DNA.
The Normal Aging Process and Its Genetic Basis Various factors can cause some genetic disorders linked to premature aging. The purpose of this paper is to talk about the genetic basis of the normal aging process.
Defending People’s Rights Through GMO Labels Having achieved mandatory labeling of GMOs, the state and other official structures signal manufacturers of goods about the need to respect customers’ rights.
Medicine Is Not a Genetic Supermarket Together with the development of society, medicine also develops, but some people are not ready to accept everything that science creates.
Epigenetics: Definition and Family History Epigenetics refers to the learning of fluctuations in creatures induced by gene expression alteration instead of modification of the ‘genetic code itself.
Genetically Modified Organisms in Aquaculture Genetically Modified Organisms are increasingly being used in aquaculture. They possess a unique genetic combination that makes them uniquely suited to their environment.
Genetic Modification of Organisms to Meet Human Needs Genetic modification of plants and animals for food has increased crop yields as the modified plants and animals have more desirable features such as better production.
Discussion of Epigenetics Meanings and Aspects The paper discusses epigenetics – the study of how gene expression takes place without changing the sequence of DNA.
Genetic Testing and Bill of Rights and Responsibilities Comparing the Patient Bill of Rights or Patient Rights and Responsibilities of UNMC and the Nebraska Methodist, I find that the latter is much broader.
Genetically Modified Products: Positive and Negative Sides This paper considers GMOs a positive trend in human development due to their innovativeness and helpfulness in many areas of life, even though GMOs are fatal for many insects.
Overview of African Americans’ Genetic Diseases African Americans are more likely to suffer from certain diseases than white Americans, according to numerous studies.
Plant Genetic Engineering: Genetic Modification Genetic engineering is the manipulation of the genes of an organism by completely altering the structure of the organism.
Genetically Modified Fish: The Threats and Benefits This article’s purpose is to evaluate possible harm and advantages of genetically modified fish. For example, the GM fish can increase farms’ yield.
Genetic Linkage Disorders: An Overview A receptor gene in the human chromosome 9 is the causative agent of most blood vessel disorders. Moreover, blood vessel disorders are the major cause of heart ailments.
Natural Selection and Genetic Variation The difference in the genetic content of organisms is indicative that certain group of organisms will stay alive, and effectively reproduce than other organisms residing in the same environment.
Genetically Modified Foods: How Safe are they? This paper seeks to address the question of whether genetically modified plants meant for food production confer a threat to human health and the environment.
The role of genes in our food preferences.
The molecular mechanisms of aging and longevity.
Genomic privacy: ways to protect genetic information.
The effects of genes on athletic performance.
CRISPR-Cas9 gene editing: current applications and future perspectives.
Genetic underpinnings of human intelligence.
The genetic foundations of human behavior.
The role of DNA analysis in criminal justice.
The influence of genetic diversity on a species’ fate.
Genetic ancestry testing: the process and importance.
The Genetic Material Sequencing This experiment is aimed at understanding the real mechanism involved in genetic material sequencing through nucleic acid hybridization.
Genetically Modified Organisms in Human Food This article focuses on Genetically Modified Organisms as they are used to produce human food in the contemporary world.
Genetics and Public Health: Disease Control and Prevention Public health genomics may be defined as the field of study where gene sequences can be used to benefit society.
Genetic Disorder Cystic Fibrosis Cystic fibrosis is a genetic disorder. The clinical presentation of the disease is evident in various organs of the body as discussed in this paper.
The Study of the Epigenetic Variation in Monozygotic Twins The growth and development of an organism result in the activation and deactivation of different parts due to chemical reactions at strategic periods and locations
Human Genome and Application of Genetic Variations Human genome refers to the information contained in human genes. The Human Genome Project (HGP) focused on understanding genomic information stored in the human DNA.
Genetic Alterations and Cancer The paper will discuss cancer symptoms, causes, diagnosis, treatment, side-effects of treatment, and also its link with a genetic alteration.
Saudi Classic Aniridia Genetic and Genomic Analysis This research was conducted in Saudi Arabia to determine the genetic and genomic alterations that underlie classic anirida.
What Makes Humans Mortal Genetically? The causes of aging have been studied and debated about by various experts for centuries, there multiple views and ideas about the reasons of aging and.
Decision Tree Analysis and Genetic Algorithm Methods Application in Healthcare The paper investigates the application of such methods of data mining as decision tree analysis and genetic algorithm in the healthcare setting.
Genetic Screening and Testing The provided descriptive report explains how genetic screening and testing assists clinicians in determining cognitive disabilities in babies.
Neurobiology: Epigenetics in Cocaine Addiction Studies have shown that the addiction process is the interplay of many factors that result in structural modifications of neuronal pathways.
Genetic (Single Nucleotide Polymorphisms) Analysis of Genome The advancement of the SNP technology in genomic analysis has made it possible to achieve cheap, effective, and fast methods for analyzing personal genomes.
Family Pedigree, Human Traits, and Genetic Testing Genetic testing allows couples to define any severe genes in eight-cell embryos and might avoid implanting the highest risk-rated ones.
Darwin’s Theory of Evolution: Impact of Genetics New research proved that genetics are the driving force of evolution which causes the revision of some of Darwin’s discoveries.
Genetic Tests: Pros and Cons Genetic testing is still undergoing transformations and further improvements, so it may be safer to avoid such procedures under certain circumstances.
Case on Preserving Genetic Mutations in IVF In the case, a couple of a man and women want to be referred to an infertility specialist to have a procedure of in vitro fertilization (IVF).
Race: Genetic or Social Construction One of the most challenging questions the community faces today is the following: whether races were created by nature or society or not.
Huntington’s Chorea Disease: Genetics, Symptoms, and Treatment Huntington’s chorea disease is a neurodegenerative heritable disease of the central nervous system that is eventually leading to uncontrollable body movements and dementia.
Genetics: A Frameshift Mutation in Human mc4r This article reviews the article “A Frameshift Mutation in Human mc4r Is Associated With Dominant Form of Obesity” published by C. Vaisse, K. Clement, B. Guy-Grand & P. Froguel.
DNA Profiling: Genetic Variation in DNA Sequences The paper aims to determine the importance of genetic variation in sequences in DNA profiling using specific techniques.
Genetic Diseases: Hemophilia This article focuses on a genetic disorder such as hemophilia: causes, symptoms, history, diagnosis, and treatment.
Genetics: Gaucher Disease Type 1 The Gaucher disease type 1 category is a genetically related complication in which there is an automatic recession in the way lysosomes store some important gene enzymes.
Genetic Science Learning Center This paper shall seek to present an analysis of sorts of the website Learn Genetics by the University of Utah.
What Is Silencer Rna in Genetics RNA silencing is an evolutionary conserved intracellular surveillance system based on recognition. RNA silencing is induced by double-stranded RNA sensed by the enzyme Dicer.
Cystic Fibrosis: Genetic Disorder Cystic fibrosis, also referred to as CF, is a genetic disorder that can affect the respiratory and digestive systems.
Genetic Testing and Privacy & Discrimination Issues Genetic testing is fraught with the violation of privacy and may result in discrimination in employment, poor access to healthcare services, and social censure.
Genetics or New Pharmaceutical Article Within the Last Year Copy number variations (CNVs) have more impacts on DNA sequence within the human genome than single nucleotide polymorphisms (SNPs).
Genetic Disorders: Diagnosis, Screening, and Treatment Chorionic villus is a test of sampling done especially at the early stages of pregnancy and is used to identify some problems which might occur to the fetus.
Research of Genetic Disorders Types This essay describes different genetic disorders such as hemophilia, turner syndrome and sickle cell disease (SCD).
Genetic Mechanism of Colorectal Cancer Colorectal Cancer (CRC) occurrence is connected to environmental factors, hereditary factors, and individual ones.
Isolated by Genetics but Longing to Belong The objective of this paper is to argue for people with genetic illnesses to be recognized and appreciated as personages in all institutions.
Genetic Association and the Prognosis of Phenotypic Characters The article understudy is devoted to the topic of genetic association and the prognosis of phenotypic characters. The study focuses on such a topic as human iris pigmentation.
PiggyBac Transposon System in Genetics Ideal delivery systems for gene therapy should be safe and efficient. PB has a high transposition efficiency, stability, and mutagenic potential in most mammalian cell lines.
Advantages of Using Genetically Modified Foods Genetic modifications of traditional crops have allowed the expansion of agricultural land in areas with adverse conditions.
Genetic Factors as the Cause of Anorexia Nervosa Genetic predisposition currently seems the most plausible explanation among all the proposed etiologies of anorexia.
Bioethical Issues in Genetic Analysis and Manipulations We are currently far from a point where we can claim that we should be providing interventions to some and not others due to their genetic makeup.
Personality Is Inherited Principles of Genetics The present articles discusses the principles of genetics, and how is human temperament and personality formed.
Genetic foundations of rare diseases.
Genetic risk factors for neurodegenerative disorders.
Inherited cancer genes and their impact on tumor development.
Genetic variability in drug metabolism and its consequences.
The role of genetic and environmental factors in disease development.
Genomic cancer medicine: therapies based on tumor DNA sequencing.
Non-invasive prenatal testing: benefits and challenges.
Genetic basis of addiction.
The origins of domestication genes in animals.
How can genetics affect a person’s injury susceptibility?
The Effects of Genetic Modification of Agricultural Products Discussion of the threat to the health of the global population of genetically modified food in the works of Such authors as Jane Brody and David Ehrenfeld.
Genetic Engineering in Food and Freshwater Issues The technology of bioengineered foods, genetically modified, genetically engineered, or transgenic crops, will be an essential element in meeting the challenging population needs.
Genetic Engineering and Religion: Designer Babies The current Pope has opposed any scientific procedure, including genetic engineering, in vitro fertilization, and diagnostic tests to see if babies have disabilities.
Op-ED Genetic Engineering: The Viewpoint The debate about genetic engineering was started more than twenty years ago and since that time it has not been resolved
All About the Role of Genetic Engineering and Biopiracy The argument whether genetically engineered seeds have monopolized the market in place of the contemporary seeds has been going on for some time now.
Genetic Engineering and Cloning Controversy Genetic engineering and cloning are the most controversial issues in modern science. The benefits of cloning are the possibility to treat incurable diseases and increase longevity.
Biotechnology: Methodology in Basic Genetics The material illustrates the possibilities of ecological genetics, the development of eco-genetical models, based on the usage of species linked by food chain as consumers and producers.
Genetics Impact on Health Care in the Aging Population This paper briefly assesses the impact that genetics and genomics can have on health care costs and services for geriatric patients.
Concerns Regarding Genetically Modified Food It is evident that genetically modified food and crops are potentially harmful. Both humans and the environment are affected by consequences as a result of their introduction.
Family Genetic History and Planning for Future Wellness The patient has a family genetic history of cardiac arrhythmia, allergy, and obesity. These diseases might lead to heart attacks, destroy the cartilage and tissue around the joint.
Personal Genetics and Risks of Diseases Concerning genetics, biographical information includes data such as ethnicity. Some diseases are more frequent in specific populations as compared to others.
Genetic Predisposition to Alcohol Dependence and Alcohol-Related Diseases The subject of genetics in alcohol dependence deserves additional research in order to provide accurate results.
Genetically-Modified Fruits, Pesticides, or Biocontrol? The main criticism of GMO foods is the lack of complete control and understanding behind GMO processes in relation to human consumption and long-term effects on human DNA.
Genetic Variants Influencing Effectiveness of Exercise Training Programmes “Genetic Variants Influencing Effectiveness of Exercise Training Programmes” studies the influence of most common genetic markers that indicate a predisposition towards obesity.
Eugenics, Human Genetics and Their Societal Impact Ever since the discovery of DNA and the ability to manipulate it, genetics research has remained one of the most controversial scientific topics of the 21st century.
Genetic Interference in Caenorhabditis Elegans The researchers found out that the double-stranded RNA’s impact was not only the cells, it was also on the offspring of the infected animals.
Genetics and Autism Development Autism is associated with a person’s genetic makeup. This paper gives a detailed analysis of this condition and the role of genetics in its development.
Genetically Modified Food Safety and Benefits Today’s world faces a problem of the shortage of food supplies to feed its growing population. The adoption of GM foods can solve the problem of food shortage in several ways.
Start Up Company: Genetically Modified Foods in China The aim of establishing the start up company is to develop the scientific idea of increasing food production using scientific methods.
Community Health Status: Development, Gender, Genetics Stage of development, gender and genetics appear to be the chief factors that influence the health status of the community.
Homosexuality as a Genetic Characteristic The debate about whether homosexuality is an inherent or social parameter can be deemed as one of the most thoroughly discussed issues in the contemporary society.
Why Is the Concept of Epigenetics So Fascinating? Epigenetics has come forward to play a significant role in the modern vision of the origin of illnesses and methods of their treatment, which results in proving to be fascinating.
Epigenetics and Its Effect on Physical and Mental Health This paper reviews a research article and two videos on epigenetics to developing an understanding of the phenomenon and how it affects individuals’ physical and mental health.
Genetic Counseling for Cystic Fibrosis Some of the inherited genes may predispose individuals to specific health conditions like cystic fibrosis, among other inheritable diseases.
Medical and Psychological Genetic Counseling Genetic counseling is defined as the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.
Patent on Genetic Discoveries and Supreme Court Decision Supreme Court did not recognize the eligibility of patenting Myriad Genetics discoveries due to the natural existence of the phenomenon.
Genetic Testing, Its Background and Policy Issues This paper will explore the societal impacts of genetic research and its perceptions in mass media, providing argumentation for support and opposition to the topic.
Genetically Modified Organisms and Future Farming There are many debates about benefits and limitations of GMOs, but so far, scientists fail to prove that the advantages of these organisms are more numerous than the disadvantages.
Mitosis, Meiosis, and Genetic Variation According to Mendel’s law of independent assortment, alleles for different characteristics are passed independently from each other.
Genetic Counseling and Hypertension Risks This paper dwells upon the peculiarities of genetic counseling provided to people who are at risk of developing hypertension.
The Perspectives of Genetic Engineering in Various Fields Genetic engineering can be discussed as having such potential benefits for the mankind as improvement of agricultural processes, environmental protection, resolution of the food problem.
Labeling Food With Genetically Modified Organisms The wide public has been concerned about the issue of whether food products with genetically modified organisms should be labeled since the beginning of arguments on implications.
Diabetes Genetic Risks in Diagnostics The introduction of the generic risks score in the diagnosis of diabetes has a high potential for use in the correct classification based on a particular type of diabetes.
Residence and Genetic Predisposition to Diseases The study on the genetic predisposition of people to certain diseases based on their residence places emphasizes the influence of heredity.
Eugenics, Human Genetics and Public Policy Debates Ethical issues associated with human genetics and eugenics have been recently brought to public attention, resulting in the creation of peculiar public policy.
Value of the Epigenetics Epigenetics is a quickly developing field of science that has proven to be practical in medicine. It focuses on changes in gene activity that are not a result of DNA sequence mutations.
Genetically Modified Organisms and Their Benefits Scientists believe GMOs can feed everyone in the world. This can be achieved if governments embrace the use of this new technology to create genetically modified foods.
Food Science and Technology of Genetic Modification Genetically modified foods have elicited different reactions all over the world with some countries banning its use while others like the United States allowing its consumption.
How Much can We Control Our Genetics, at What Point do We Cease to be Human? The branch of biology that deals with variation, heredity, and their transmission in both animals and the plant is called genetics.
Genetically Modified Foods and Their Impact on Human Health Genetically modified food has become the subject of discussion. There are numerous benefits and risks tied to consumption of genetically modified foods.

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These essay examples and topics on Genetics were carefully selected by the StudyCorgi editorial team. They meet our highest standards in terms of grammar, punctuation, style, and fact accuracy. Please ensure you properly reference the materials if you’re using them to write your assignment.

This essay topic collection was updated on January 21, 2024 .

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119 Genetics Research Topics You Must Know About

Put simply, Genetics is the study of genes and hereditary traits in living organisms. Knowledge in this field has gone up over time, and this is proportional to the amount of research.

Right from the DNA structure discovery, a lot more has come out into the open. There are so many genetics research topics to choose from because of the wide scope of research done in recent years.

Genetics is so dear to us since it helps us understand our genes and hereditary traits. In this guide, you will get to understand this subject more and get several topic suggestions that you can consider when looking for interesting genetics topics.

Writing a paper on genetics is quite intriguing nowadays. Remember that because there are so many topics in genetics, choosing the right one is crucial. It will help you cut down on research time and the technicality of selecting content for the topic. Thus, it would matter a lot if you confirmed whether or not the topic you’re choosing has relevant sources in plenty.

What Is Genetics?

Before we even go deeper into genetics topics for research papers, it is essential to have a basic understanding of what the subject entails.

Genetics is a branch of Biology to start with. It is mainly focused on the study of genetic variation, hereditary traits, and genes.

Genetics has relations with several other subjects, including biotechnology, medicine, and agriculture. In Genetics, we study how genes act on the cell and how they’re transmitted from a parent to the offspring. In modern Genetics, the emphasis is more on DNA, which is the chemical substance found in genes. Remember that Genetics cut across animals, insects, and plants – basically any living organism there is.

Tips On How To Write A Decent Research Paper On Genetics

When planning to choose genetics topics, you should also make time and learn how to research. After all, this is the only way you can gather the information that will help you come up with the content for the paper. Here are some tips that can bail you out whenever you feel stuck:

Choosing the topic, nonetheless, is not an easy thing for many students. There are just so many options present, and often, you get spoilt for choice. But note that this is an integral stage/process that you have to complete. Do proper research on the topic and choose the kind of information that you’d like to apply.

Choose a topic that has enough sources academically. Also, choosing interesting topics in genetics is a flex that can help you during the writing process.

On the web, there’s a myriad of information that often can become deceiving. Amateurs try their luck to put together several pieces of information in a bid to try and convince you that they are the authority on the subject. Many students become gullible to such tricks and end up writing poorly in Genetics.

Resist the temptation to look for an easy way of gaining sources/information. You have to take your time and dig up information from credible resources. Otherwise, you’ll look like a clown in front of your professor with laughable Genetics content.

Also, it is quite important that you check when your sources were updated or published. It is preferred and advised that you use recent sources that have gone under satisfactory research and assessment.

Also, add a few words to each on what you’re planning to discuss.Now, here are some of the top genetics paper topics that can provide ideas on what to write about.

Good Ideas For Genetics Topics

Here are some brilliant ideas that you can use as research paper topics in the Genetics field:

Is the knowledge of Genetics ahead of replication and research?
What would superman’s genetics be like?
DNA molecules and 3D printing – How does it work?
How come people living in mountainous regions can withstand high altitudes?
How to cross genes in distinct animals.
Does gene-crossing really help to improve breeds or animals?
The human body’s biggest intriguing genetic contradictions
Are we still far away from achieving clones?
How close are we to fully cloning human beings?
Can genetics really help scientists to secure various treatments?
Gene’s regulation – more details on how they can be regulated.
Genetic engineering and its functioning.
What are some of the most fascinating facts in the field of Genetics?
Can you decipher genetic code?
Cancer vaccines and whether or not they really work.
Revealing the genetic pathways that control how proteins are made in a bacterial cell.
How food affects the human body’s response to and connection with certain plants’ and animals’ DNA.

Hot Topics In Genetics

In this list are some of the topics that raise a lot of attention and interest from the masses. Choose the one that you’d be interested in:

The question of death: Why do men die before women?
Has human DNA changed since the evolution process?
How much can DNA really change?
How much percentage of genes from the father goes to the child?
Does the mother have a higher percentage of genes transferred to the child?
Is every person unique in terms of their genes?
How does genetics make some of us alike?
Is there a relationship between diets and genetics?
Does human DNA resemble any other animal’s DNA?
Sleep and how long you will live on earth: Are they really related?
Does genetics or a healthy lifestyle dictate how long you’ll live?
Is genetics the secret to long life on earth?
How much does genetics affect your life’s quality?
The question on ageing: Does genetics have a role to play?
Can one push away certain diseases just by passing a genetic test?
Is mental illness continuous through genes?
The relationship between Parkinson’s, Alzheimer’s and the DNA.

Molecular Genetics Topics

Here is a list of topics to help you get a better understanding of Molecular genetics:

Mutation of genes and constancy.
What can we learn more about viruses, bacteria, and multicellular organisms?
A study on molecular genetics: What does it involve?
The changing of genetics in bacteria.
What is the elucidation of the chemical nature of a gene?
Prokaryotes genetics: Why does this take a centre stage in the genetics of microorganisms?
Cell study: How this complex assessment has progressed.
What tools can scientists wield in cell study?
A look into the DNA of viruses.
What can the COVID-19 virus help us to understand about genetics?
Examining molecular genetics through chemical properties.
Examining molecular genetics through physical properties.
Is there a way you can store genetic information?
Is there any distinction between molecular levels and subcellular levels?
Variability and inheritance: What you need to note about living things at the molecular level.
The research and study on molecular genetics: Key takeaways.
What scientists can do within the confines of molecular genetics?
Molecular genetics research and experiments: What you need to know.
What is molecular genetics, and how can you learn about it?

Human Genetics Research Topics

Human genetics is an interesting field that has in-depth content. Some topics here will jog your brain and invoke curiosity in you. However, if you have difficulty writing a scientific thesis , you can always contact us for help.

Can you extend your life by up to 100% just by gaining more understanding of the structure of DNA?
What programming can you do with the help of DNA?
Production of neurotransmitters and hormones through DNA.
Is there something that you can change in the human body?
What is already predetermined in the human body?
Do genes capture and secure information on someone’s mentality?
Vaccines and their effect on the DNA.
What’s the likelihood that a majority of people on earth have similar DNA?
Breaking of the myostatin gene: What impact does it have on the human body?
Is obesity passed genetically?
What are the odds of someone being overweight when the rest of his lineage is obese?
A better understanding of the relationship between genetics and human metabolism.
The truths and myths engulfing human metabolism and genetics.
Genetic tests on sports performance: What you need to know.
An insight on human genetics.
Is there any way that you can prevent diseases that are transmitted genetically?
What are some of the diseases that can be passed from one generation to the next through genetics?
Genetic tests conducted on a person’s country of origin: Are they really accurate?
Is it possible to confirm someone’s country of origin just by analyzing their genes?

Current Topics in Genetics

A list to help you choose from all the most relevant topics:

DNA-altering experiments: How are scientists conducting them?
How important is it to educate kids about genetics while they’re still in early learning institutions?
A look into the genetics of men and women: What are the variations?
Successes and failures in the study of genetics so far.
What does the future of genetics compare to the current state?
Are there any TV series or science fiction films that showcase the future of genetics?
Some of the most famous myths today are about genetics.
Is there a relationship between genetics and homosexuality?
Does intelligence pass through generations?
What impact does genetics hold on human intelligence?
Do saliva and hair contain any genetic data?
What impact does genetics have on criminality?
Is it possible that most criminals inherit the trait through genetics?
Drug addiction and alcohol use: How close can you relate it to genetics?
DNA changes in animals, humans, and plants: What is the trigger?
Can you extend life through medication?
Are there any available remedies that extend a person’s life genetically?
Who can study genetics?
Is genetics only relevant to scientists?
The current approach to genetics study: How has it changed since ancient times?

Controversial Genetics Topics

Last, but definitely not least, are some controversial topics in genetics. These are topics that have gone through debate and have faced criticism all around. Here are some you can write a research paper about:

Gene therapy: Some of the ethical issues surrounding it.
The genetic engineering of animals: What questions have people raised about it?
The controversy around epigenetics.
The human evolution process and how it relates to genetics.
Gene editing and the numerous controversies around it.
The question on same-sex relations and genetics.
The use of personal genetic information in tackling forensic cases.
Gene doping in sports: What you need to know.
Gene patenting: Is it even possible?
Should gene testing be compulsory?
Genetic-based therapies and the cloud of controversy around them.
The dangers and opportunities that lie in genetic engineering.
GMOs and their impact on the health and welfare of humans.
At what stage in the control of human genetics do we stop to be human?
Food science and GMO.
The fight against GMOs: Why is it such a hot topic?
The pros and cons of genetic testing.
The debates around eugenics and genetics.
Labelling of foods with GMO: Should it be mandatory?
What really are the concerns around the use of GMOs?
The Supreme Court decision on the patent placed on gene discoveries.
The ethical issues surrounding nurses and genomic healthcare.
Cloning controversial issues.
Religion and genetics.
Behavior learning theories are pegged on genetics.
Countries’ war on GMOs.
Studies on genetic disorders.

Get Professional Help Online

Now that we have looked at the best rated topics in genetics, from interesting to controversial topics genetics, you have a clue on what to choose. These titles should serve as an example of what to select.

Nonetheless, if you need help with a thesis, we are available to offer professional and affordable thesis writing services . Our high quality college and university assignment assistance are available to all students online at a cheap rate. Get a sample to check on request and let us give you a hand when you need it most.

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Sydney Brenner, writing in the 100th issue of Trends in Genetics in 1993, made the prediction that genetics as a separate subject would have disappeared by the year 2000, because all biology would be gene-centred and all biologists would be geneticists. The prediction may have been realised because of the advances in sequencing genomes and microarray technology, which are now used by most biologists, but it is still true that genetics offers a viewpoint and a range of experimental approaches that find application in many areas of biological enquiry.

Genetics has always been concerned with the problem of how the hereditary information in DNA controls what an organism looks like and how it works. Classically this involved the use of genetic variants (mutants) to upset the biological function of the cells or organisms and, from the effect of these mutations, to make deductions about the way cells and organisms worked. At the molecular end of the subject, the availability of sequence information and genomic analysis, together with sophisticated techniques for gene replacement, and analysis of gene expression patterns (microarray technology), gives us much more powerful tools for looking at the way genes work to make us what we are. At the other extreme of the subject, a knowledge of genetics is fundamental to an understanding of how organisms, populations and species evolve. One of the most exciting developments in the subject in the last few years is the way in which these two extremes have begun to approach each other, through the application of the new molecular systematics to the problems of development, evolution, and speciation.

Geneticists believe that the methods and techniques of genetics are applicable throughout the spectrum of biological activity, and are as relevant to molecular biology as to population studies. Some of the basic tools of modern biology (analysis of genomic sequences and bioinformatics) are most intelligently used in the knowledge of the genetic principles that underpin the design and application of the software. At the other end of the spectrum, a knowledge of genetics is fundamental to an understanding of the evolution of populations and species.

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122 The Best Genetics Research Topics For Projects

The study of genetics takes place across different levels of the education system in academic facilities all around the world. It is an academic discipline that seeks to explain the mechanism of heredity and genes in living organisms. First discovered back in the 1850s, the study of genetics has come a pretty long way, and it plays such an immense role in our everyday lives. Therefore, when you are assigned a genetics research paper, you should pick a topic that is not only interesting to you but one that you understand well.

Choosing Research Topics in Genetics

Even for the most knowledgeable person in the room, choosing a genetics topic for research papers can be, at times, a hectic experience. So we put together a list of some of the most exciting top in genetics to make the endeavor easier for you. However, note, while all the topics we’ve listed below will enable you to write a unique genetic project, remember what you choose can make or break your paper. So again, select a topic that you are both interested and knowledgeable on, and that has plenty of research materials to use. Without further ado, check out the topics below.

Interesting Genetics Topics for your Next Research Paper

Genes and DNA: write a beginners’ guide to genetics and its applications
Factors that contribute or/and cause genetic mutations
Genetics and obesity, what do you need to know?
Describe RNA information
Is there a possibility of the genetic code being confidential?
Are there any living cells present in the gene?
Cancer and genetics
Describe the role of genetics in the fight against Alzheimer’s disease
What is the gene
Is there a link between genetics and Parkinson’s disease? Explain your answer.
Replacement of genes and artificial chromosomes
Explain genetic grounds for obesity
Development and disease; how can genetics dissect the developing process
Analyzing gene expression – RNA
Gene interaction; eye development
Advances and developments in nanotechnology to enable therapeutic methods for the treatment of HIV and AIDS.
Isolating and identifying the cancer treatment activity of special organic metal compounds.
Analyzing the characteristics in certain human genes that can withstand heavy metals.
A detailed analysis of genotypes that is both sensitive and able to endure heavy metals.
Isolating special growth-inducing bacteria that can assist crops during heavy metal damage and identifying lipid directing molecules for escalating heavy metal endurance in plants.

Hot and Controversial Topics in Genetics

Is there a link between genetics and homosexuality? Explain your answer
Is it ethical and morally upright to grow human organs
Can DNA changes beat aging
The history and development of human cloning science
How addictive substances alter our genes
Are genetically modified foods safe for human and animal consumption?
Is depression a genetically based condition?
Genetic diagnosis of the fetus
Genetic analysis of the DNA structure
What impact does cloning have on future generations?
What is the link between genetics and autism?
Can artificial insemination have any sort of genetic impact on a person?
The advancements in genetic research and the bioethics that come with them.
Is human organ farming a possibility today?
Can genetics allow us to design and build a human to our specifications?
Is it ethical to try and tamper with human genetics in any way?

Molecular Genetics Topics

Molecular techniques: How to analyze DNA(including genomes), RNA as well as proteins
Stem cells describe their potential and shortcomings
Describe molecular and genome evolution
Describe DNA as the agent of heredity
Explain the power of targeted mutagenesis
Bacteria as a genetic system
Explain how genetic factors increase cancer susceptibility
Outline and describe recent advances in molecular cancer genetics
Does our DNA sequencing have space for more?
Terminal illness and DNA.
Does our DNA determine our body structure?
What more can we possibly discover about DNA?

Genetic Engineering Topics

Define gene editing, and outline key gene-editing technologies, explaining their impact on genetic engineering
The essential role the human microbiome plays in preventing diseases
The principles of genetic engineering
Project on different types of cloning
What is whole genome sequencing
Explain existing studies on DNA-modified organisms
How cloning can impact medicine
Does our genetics hold the key to disease prevention?
Can our genetics make us resistant to certain bacteria and viruses?
Why our genetics plays a role in chronic degenerative diseases.
Is it possible to create an organism in a controlled environment with genetic engineering?
Would cloning lead to new advancements in genetic research?
Is there a possibility to enhance human DNA?
Why do we share DNA with so many other animals on the planet?
Is our DNA still evolving or have reached our biological limit?
Can human DNA be manipulated on a molecular or atomic level?
Do we know everything there is to know about our DNA, or is there more?

Controversial Human Genetic Topics

Who owns the rights to the human genome
Is it legal for parents to order genetically perfect children
is genetic testing necessary
What is your stand on artificial insemination vs. ordinary pregnancy
Do biotech companies have the right to patent human genes
Define the scope of the accuracy of genetic testing
Perks of human genetic engineering
Write about gene replacement and its relationship to artificial chromosomes.
Analyzing DNA and cloning
DNA isolation and nanotechnology methods to achieve it.
Genotyping of African citizens.
Greatly mutating Y-STRs and the isolated study of their genetic variation.
The analytical finding of indels and their genetic diversity.

DNA Research Paper Topics

The role and research of DNA are so impactful today that it has a significant effect on our daily lives today. From health care to medication and ethics, over the last few decades, our knowledge of DNA has experienced a lot of growth. A lot has been discovered from the research of DNA and genetics.

Therefore, writing a good research paper on DNA is quite the task today. Choosing the right topic can make things a lot easier and interesting for writing your paper. Also, make sure that you have reliable resources before you begin with your paper.

Can we possibly identify and extract dinosaur DNA?
Is the possibility of cloning just around the corner?
Is there a connection between the way we behave and our genetic sequence?
DNA research and the environment we live in.
Does our DNA sequencing have something to do with our allergies?
The connection between hereditary diseases and our DNA.
The new perspectives and complications that DNA can give us.
Is DNA the reason all don’t have similar looks?
How complex human DNA is.
Is there any sort of connection between our DNA and cancer susceptibility and resistance?
What components of our DNA affect our decision-making and personality?
Is it possible to create DNA from scratch under the right conditions?
Why is carbon such a big factor in DNA composition?
Why is RNA something to consider in viral research and its impact on human DNA?
Can we detect defects in a person’s DNA before they are born?

Genetics Topics For Presentation

The subject of genetics can be quite broad and complex. However, choosing a topic that you are familiar with and is unique can be beneficial to your presentation. Genetics plays an important part in biology and has an effect on everyone, from our personal lives to our professional careers.

Below are some topics you can use to set up a great genetics presentation. It helps to pick a topic that you find engaging and have a good understanding of. This helps by making your presentation clear and concise.

Can we create an artificial gene that’s made up of synthetic chromosomes?
Is cloning the next step in genetic research and engineering?
The complexity and significance of genetic mutation.
The unlimited potential and advantages of human genetics.
What can the analysis of an individual’s DNA tell us about their genetics?
Is it necessary to conduct any form of genetic testing?
Is it ethical to possibly own a patent to patent genes?
How accurate are the results of a genetics test?
Can hereditary conditions be isolated and eliminated with genetic research?
Can genetically modified food have an impact on our genetics?
Can genetics have a role to play in an individual’s sexuality?
The advantages of further genetic research.
The pros and cons of genetic engineering.
The genetic impact of terminal and neurological diseases.

Biotechnology Topics For Research Papers

As we all know, the combination of biology and technology is a great subject. Biotechnology still offers many opportunities for eager minds to make innovations. Biotechnology has a significant role in the development of modern technology.

Below you can find some interesting topics to use in your next biotechnology research paper. Make sure that your sources are reliable and engage both you and the reader.

Settlements that promote sustainable energy technology maintenance.
Producing ethanol through molasses emission treatment.
Evapotranspiration and its different processes.
Circular biotechnology and its widespread framework.
Understanding the genes responsible for flora response to harsh conditions.
Molecule signaling in plants responding to dehydration and increased sodium.
The genetic improvement of plant capabilities in major crop yielding.
Pharmacogenomics on cancer treatment medication.
Pharmacogenomics on hypertension treating medication.
The uses of nanotechnology in genotyping.
How we can quickly detect and identify food-connected pathogens using molecular-based technology.
The impact of processing technology both new and traditional on bacteria cultures linked to Aspalathus linearis.
A detailed analysis of adequate and renewable sorghum sources for bioethanol manufacturing in South Africa.
A detailed analysis of cancer treatment agents represented as special quinone compounds.
Understanding the targeted administering of embelin to cancerous cells.

Tips for Writing an Interesting Genetics Research Paper

All the genetics research topics above are excellent, and if utilized well, could help you come up with a killer research paper. However, a good genetics research paper goes beyond the topic. Therefore, besides choosing a topic, you are most interested in, and one with sufficient research materials ensure you

Fully Understand the Research Paper Format

You may write on the most interesting genetics topics and have a well-thought-out set of ideas, but if your work is not arranged in an engaging and readable manner, your professor is likely to dismiss it, without looking at what you’ve written. That is the last thing you need as a person seeking to score excellent grades. Therefore, before you even put pen to paper, understand what research format is required.

Keep in mind that part of understanding the paper’s format is knowing what words to use and not to use. You can contact our trustful masters to get qualified assistance.

Research Thoroughly and Create an Outline

Whichever genetics research paper topics you decide to go with, the key to having excellent results is appropriately researching it. Therefore, embark on a journey to understand your genetics research paper topic by thoroughly studying it using resources from your school’s library and the internet.

Ensure you create an outline so that you can note all the useful genetic project ideas down. A research paper outline will help ensure that you don’t forget even one important point. It also enables you to organize your thoughts. That way, writing them down in the actual genetics research paper becomes smooth sailing. In other words, a genetics project outline is more like a sketch of the paper.

Other than the outline, it pays to have an excellent research strategy. In other words, instead of looking for information on any random source you come across, it would be wise to have a step-by-step process of looking for the research information.

For instance, you could start by reading your notes to see what they have to say about the topic you’ve chosen. Next, visit your school’s library, go through any books related to your genetics research paper topic to see whether the information on your notes is correct and for additional information on the topic. Note, you can visit the library either physically or via your school’s website. Lastly, browse educational sites such as Google Scholar, for additional information. This way, you’ll start your work with a bunch of excellent genetics project ideas, and at the same time, you’ll have enjoyed every step of the research process.

Get Down to Work

Now turn the genetics project ideas on your outline into a genetics research paper full of useful and factual information.

There is no denying writing a genetics research paper is one of the hardest parts of your studies. But with the above genetics topics and writing tips to guide you, it should be a tad easier. Good luck!

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Eur J Hum Genet
v.29(7); 2021 Jul

Origins of human genetics. A personal perspective

Eberhard passarge.

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany

Associated Data

Genetics evolved as a field of science after 1900 with new theories being derived from experiments obtained in fruit flies, bacteria, and viruses. This personal account suggests that the origins of human genetics can best be traced to the years 1949 to 1959. Several genetic scientific advances in genetics in 1949 yielded results directly relating to humans for the first time, except for a few earlier observations. In 1949 the first textbook of human genetics was published, the American Journal of Human Genetics was founded, and in the previous year the American Society of Human Genetics. In 1940 in Britain a textbook entitled Introduction to Medical Genetics served as a foundation for introducing genetic aspects into medicine. The introduction of new methods for analyzing chromosomes and new biochemical assays using cultured cells in 1959 and subsequent years revealed that many human diseases, including cancer, have genetic causes. It became possible to arrive at a precise cause-related genetic diagnosis. As a result the risk of occurrence or re-occurrence of a disease within a family could be assessed correctly. Genetic counseling as a new concept became a basis for improved patient care. Taken together the advances in medically orientated genetic research and patient care since 1949 have resulted in human genetics being both, a basic medical and a basic biological science. Prior to 1949 genetics was not generally viewed in a medical context. Although monogenic human diseases were recognized in 1902, their occurrence and distribution were considered mainly at the population level.

Introduction

With the completion of the Human Genome Project in 2004 [ 1 ] human genetics moved into a new era of exploring the whole genome and its relation to the causes of genetic disorders. New approaches based on numerous new technological advances, such as different automated DNA sequencing methods [ 2 ], the elucidation of different types of individual genetic variation [ 3 ] and others, allow high resolution analysis of the human genome in various genetic etiologies of diseases [ 4 , 5 ] in a great number of individuals in different geographic populations [ 6 – 9 ] or analysis of single cells [ 10 ]. Earlier genetic studies in human genetics were aimed at individual genes or groups of linked genes. In contrast, during the first 4–5 decades of increasing knowledge of general genetics since 1900, aspects relating to humans could rarely be considered [ 11 – 17 ]. The term “human genetics” has only been in wide use since 1949 on. “Man is one of the most unsatisfactory of all organisms for genetics studies.” One sentence later: “Obviously no geneticist would study such a refractory object, were it not for the importance that a knowledge of the subject has in other fields.” Thus wrote Alfred H Sturtevant in 1954 [ 18 ], expressing an opinion widely held among geneticists before the advent of human genetics (Extended Text #1 in Supp. Mat.).

How did human genetics arise? Here I propose that the origins of human genetics as an independent scientific field can best be traced to the years between 1949 and 1959, when genetic advances could be applied to humans. Several scientific events took place in 1949 that support this idea. In addition, I will briefly review advances relating to human genetics as they apply to medicine and patient care before and after 1949, much of it as a personal witness since 1963.

The year 1949

Two new important insights in 1949 serve as hallmarks in the development of early human genetics. James V Neel described sickle cell anemia as an autosomal recessive trait [ 19 ] and four months later in the same volume of Science Linus Pauling identified this disorder as a “molecular” disease [ 20 ]. In 1949 JBS Haldane estimated the mutation rate in humans based on an analysis of seven human diseases to be about 4 × 10 −5 [ 21 ]. Also in 1949, in a publication entitled “Disease and Evolution” JBS Haldane viewed infectious diseases as having potential as an “agent for natural selection” in man [ 22 ].

Another landmark paper in 1949 described the serendipitous discovery of a cytologically visible structure in the nucleus of neurons of female cats, but not in males [ 23 ]. Subsequently named Barr body, later X-chromatin, this eventually led to the principle of X-chromosome inactivation [ 24 ]. The examples above constitute a shift in the paradigm in scientific progress as postulated by Kuhn [ 25 ]. According to this theory science not only progresses as continuous accumulation of knowledge, but also by periods of a new paradigm by asking completely new questions in a new context [ 26 ].

For additional reasons the year 1949 can be considered a watershed time point from which modern human genetics developed. In 1949 the American Journal of Human Genetics was established, a year after the founding of the American Society of Human Genetics (ASHG). Curt Stern (1902–1981), one of the leading geneticists between 1923 and 1970, published the first textbook in this field, Principles of Human Genetics [ 27 ].

The first two meetings of the ASHG took place in September 1948 in Washington, DC, and December 1949 in New York City, both under HJ Muller as president. The title of Muller´s presidential address presented at the second annual meeting of the ASHG in 1949 was “Our Load of Mutations” [ 28 ]. This was mainly concerned with the consequences of mutations in humans at the population level.

In 1940 in Britain, a textbook appeared entitled An Introduction to Medical Genetics by Fraser Roberts [ 29 ]. This was the first textbook on medical genetics, and the only one for many years.

The year 1949 is also noteworthy for human genetics in post-war Germany (Extended Text #2 in Supp. Mat.).

Early advances

The transition from general genetics to human genetics is characterized by recognizing the medical aspects. Newly discovered chromosome abnormalities, hereditary metabolic defects and molecular technology resulted in defining new human diseases due to different genetic causes. Human genetics includes medical genetics , devoted to all of its medical aspects and clinical genetics , the practice of diagnosis and management of genetic disorders. McKusick in 1993 stated that clinical genetics originated in 1959 when human cytogenetics and biochemical genetics developed into mainstream subjects of research and its medical applications [ 30 ]. The term genomics , derived from genome (coined by Winkler in 1920), was introduced in 1987 [ 31 ]. It relates not only to all genes, but also to the molecules regulating their functions and nuclear structures.

The European Society of Human Genetics (ESHG) was founded at the Third International Congress of Human Genetics in 1966 in Chicago, with the author of this review and Albert de la Chapelle present. Its first annual meeting was held 1968 in Paris.

Chromosomes

Human genetics is a theory-driven science, but it also greatly depends on advances in methods of investigation. Probably the most important single contribution to the development of modern human genetics was that of cytogenetics in 1959 [ 32 – 36 ]. At first, individual chromosomes in mitosis could not yet be individually identified distinguished except for a few chromosome pairs (Extended Text #3 in Supp. Mat.). New cell culture methods and improved mitotic chromosomal preparations for light microscopic analysis directly led to the recognition in 1959/60 that several human disorders result from defined aberrations in the number or structure of chromosomes (Trisomies 21, 18, 13; partial chromosomal deletions or duplications). Since each aberration was associated with a distinct phenotype, a relationship between a genotype and a phenotype could be defined. In 1959, individuals without a Y chromosome were shown to be female [ 37 ], whereas those with a Y chromosome were male no matter how many X chromosomes were present [ 38 ]. This was the first step towards defining the fundaments of mammalian sex determination. In the 1960s and 1970s it became apparent that fetal death is frequently caused by chromosomal aberrations that are not observed in newborns. Although chromosomes in metaphase were described as early as 1879, the correct number of human chromosomes was not established until 1956 (Extended Text #4 in Supp. Mat.).

Cell cultures and biochemical defects

From the 1960s on, cultured cells became widely used to investigate monogenic human diseases (somatic cell genetics). Cells homozygous for a genetic defect could be distinguished from heterozygous cells. Fused homozygous cells from different patients (cell hybrids) could result in a normal cellular phenotype, proving the disease in question to be genetically heterogeneous. Biochemical assays began to define human hereditary metabolic diseases such as amino acid disorders, lysosomal storage diseases, and others at the level of the phenotype and genotype. Prenatal genetic diagnosis was introduced in the late 1960s.

Molecular advances

Beginning in 1974 DNA could be analyzed by applying new recombinant DNA methods directly, or indirectly by using linked polymorphic DNA markers. New methods to sequence DNA nucleotides in 1977 and to amplify small amounts of DNA in 1985 (PCR) resulted in precise genetic diagnoses with correct assessment of the genetic risk within a given family. Molecular cytogenetics was introduced shortly after 1985. This allowed the analysis of mitotic chromosomes by in situ DNA hybridization. Submicroscopic chromosomal alterations (less than 4 million base pairs of DNA) became visible. New automated massive parallel DNA sequencing methods (“next generation”) introduced in 2005 have made it possible to sequence the DNA of large numbers of individuals and tumor cells at relatively low cost [ 2 , 4 ]. Other new approaches have become possible: genome-wide association studies (GWAS), exome sequencing, whole genome sequencing, and others.

Genetics in medicine

From about 1960 on genetics included its medical aspects. McKusick in 1992 reviewed the development of human genetics from the First International Congress of Human Genetics in 1956 at Copenhagen to 1991 [ 39 ]. He noted that by 1992 human genetics had become “medicalized, subspecialized, professionalized, molecularized, consumerized, commercialized”. Systematic genetic diagnostic services and genetic counseling became part of patient care [ 40 ]. The American Board of Medical Genetics was established in 1979, the American College of Medical Genetics in 1992.

Details of the early stages of developing human genetics are reviewed by McKusick [ 40 ], Polani [ 41 ], Harper [ 42 , 43 ], Harper et al. [ 44 ]; McKusick & Harper and Childs & Pyeritz [ 45 , 46 ], and more recently Clausnitzer et al. [ 4 ]. Childs in 1999 and 2013 [ 47 , 48 ] has drawn attention to two views of disease: the classification of diseases differs in medicine and medical human genetics. In medicine it is mainly based on the phenotype, i.e., clinical manifestation, whereas the genetic classification system is based on the genotype, i.e., different types of mutations or other structural rearrangements. Table 1 lists the main genetic features of genetic disorders first described by their phenotypes since 1949. It is remarkable that many of these recognizable phenotypes were not described earlier, such as, e.g., trisomy 18, whereas the phenotype of trisomy 13 was described in 1657 (Thomas Bartholin, “Monstrum sine oculis”). Most disorders listed in Table 1 can be classified according to their genotypes rather than their phenotypes. Their classification is based on different pathogenic causes, such as impaired functions in genome structure, chromatin regulation, cell receptors, transcription factors, signaling pathways, imprinting, and others (for other examples of genetic classification of diseases see Extended Text #5 in Supp. Mat.).

Examples of new genetic disorders described 1949–2009.

Table S 1 lists examples of major advances in human genetics between 1949 and 2020. The criteria for selection are based on how each entry has been perceived in the literature and personal observations since 1963. The left column contains advances directly relating to human genetics, and the right column entries indirectly contributing to human genetics.

Nowhere is the enormous progress in the medical aspects of human genetics ( medical genetics ), in particular for monogenic disorders, more visible than in Mendelian Inheritance in Man. A Catalog of Human Genes and Genetic Disorders (Fig. S 1 ). This was first established in 1966 by Victor A McKusick (1921–2008) at Johns Hopkins University in Baltimore and went through 12 printed editions (1966–1998). Since then it is maintained online as Online Mendelian Inheritance in Man (Ref. [ 49 ], online freely available at OMIM: www.ncbi.nlm.nih.gov/omim ). CF Fraser and H Harris in 1956 independently established genetic heterogeneity as a basic principle in medical genetics [ 50 – 53 ]. Scriver in 1999 [ 54 ] first demonstrated that modifying genes influence the phenotype, severity and course of illness in monogenic disorders [ 55 – 57 ]. An important shift of paradigm in genetics occurred when the concept of genetic counseling was introduced (Extended Text #6 in Supp. Mat.).

Advances in general genetics applied to humans prior to 1949

Prior to 1949 none of the many discoveries in genetics could be derived from direct observations in humans. Advances in genetics generally were not seen in a medical context with patient care. Knowledge of human genetic disorders was aimed at the population level rather than individually to patients and their families. Monogenic Mendelian disorders were viewed as being too rare to be relevant for medical applications and patient care. Complex disorders with multifactorial etiologies had not yet revealed their genetic components. Several of the early genetic investigations in humans were directed at the genetics of normal traits such as stature, color of the eye, skin, hair, mental abilities and the like. They came to erroneous conclusions because the underlying genetic properties are not as simple as assumed at the time. Several presidents of the American Society of Human Genetics and others have reflected on the status of human genetics before 1949 (Extended Text #7 in Supp. Mat.).

A few earlier attempts related genetic knowledge to humans. Neel in 1939 initiated a seminar on human genetics together with Curt Stern (Extended Text #8 in Supp. Mat.). In 1940 in Britain, a textbook appeared entitled An Introduction to Medical Genetics by Fraser Roberts [ 29 ]. This was the first textbook on medical genetics, and the only one for many years (Extended Text #9 in Supp. Mat.). In Germany in 1923 a 500-page textbook entitled “Human Heredity Science and Racial Hygiene” went through five editions until 1940 (Extended Text #10 in Supp. Mat.).

In 1934 A Følling described phenylketonuria (OMIM 261600) as a cause of mental retardation. After GA Jervis recognized the enzyme defect in 1947, and H Bickel in 1953 delineated an approach to dietary therapy, R Guthrie in 1962 set the stage for population-wide screening of newborns for early diagnosis and effective therapy. Today a great number of hereditary metabolic disorders can be identified in newborns prior to clinical manifestation.

In general however, advances in genetics were not considered in relation to medicine. This would have required a shift in paradigm, which did not occur at that time. A gross misconception in applying genetic considerations to humans in the 1920s and 1930s was Eugenics (Extended Text #11 in Supp. Mat.).

Prescient insights

Three remarkable exceptions with early genetic insights relating to humans can be cited here: William Bateson, Archibald E Garrod, and Theodor Boveri. They can be considered forerunners of human genetics. William Bateson (1861–1926) at Cambridge in his Principles of Heredity in 1913 [ 12 ] described several human pedigrees with autosomal dominant, recessive, and X-linked inheritance (pp. 203–234). Bateson states on page 233: “Similarly when we find that a condition such as retinitis pigmentosa sometimes descends in one way and sometimes in another, we may perhaps expect that a fuller knowledge of facts would show that more than one pathological state may be included under the same name” [ 12 ]. Thus, Bateson recognized genetic heterogeneity more than 40 years before CF Fraser and H Harris in 1956 independently established it as a basic principle in human genetics (see above). Other examples of early descriptions of Mendelian inheritance of human diseases are heritable biochemical defects, described by Archibald Garrod as “inborn errors of metabolism” [ 58 – 60 ] or brachydactyly type A1 (OMIM 112500) by WC Farabee in a PhD thesis published in 1905, reviewed by Haws & McKusick in 1963 [ 61 ] and Bateson, 1913, page 210–216 [ 12 ].

Archibald E Garrod (1857–1936) at Great Ormand Street Hospital London recognized the genetic individuality of man. In a letter to Bateson on 11 January 1902, Garrod wrote: “I believe that no two individuals are exactly alike chemically any more than structurally (Ref. [ 60 ], Bearn, 1993, page 61). In his prescient monograph Inborn Factors of Disease of 1931 Garrod considered predisposition to disease to be important [ 47 , 48 , 60 ]. A remarkable insight pointing to the importance of genetics in human diseases is contained in Thomas H Morgan’s Nobel lecture in 1934, The relation of genetics to physiology and medicine : “… considering the present attitude of medicine and the dominating place of the constitutional researches, the role of the inner, hereditary factors to health and disease appears in a still clearer light. For the general understanding of maladies, for prophylactic medicine, and for the treatment of diseases, hereditary research thus gains still greater importance” (cited by Bearn, 1993, ref. [ 60 ], page 193).

The third example is Theodor Boveri (1862–1915) at Würzburg. By 1902 he had recognized the individuality of chromosomes [ 62 ]. Subsequently Boveri related changes in chromosomes to the causes of cancer [ 63 , 64 ]. However, more than four decades went by until 1960 when the Philadelphia chromosome was described in chronic myelogenous leukemia [ 65 , 66 ]. The “One Gene – One Enzyme” hypothesis proposed by George W Beadle in 1941 could have become a corner stone of human biochemical genetics. Beadle referred to Garrod in his Nobel lecture in 1958 (cited by Bearn, 1993, ref. [ 60 ], page 150).

Diversity of modern human genetics

Modern human genetics has evolved in different directions mainly based on different methods of investigation, although in research it is by no means limited to Homo sapiens . Today it comprises genomics with several subsections (e.g., proteomics, epigenomics and others), molecular genetics, tumor genetics and -genomics, pharmacogenetics and -genomics, immunogenetics, epigenetics, cytogenetics, somatic cell genetics, biochemical genetics, population genetics, evolutionary bases of causes of disorders, bioinformatics and others. This is extensively reviewed in two current multivolume online textbooks [ 67 , 68 ]. No vertebrate genetics or genomics is better understood than that of man. Yet, human genetics is not an established curriculum of study within the faculties of either medicine or biology. Rather, to become a human geneticist one must study medicine or a basic science and complete approximately five years of formal postgraduate training. Thus, human geneticists represent either a medical or a non-medical basic science. This dual structure of being both a medical and a biological discipline makes human genetics unique among the medical subspecialities, as outlined in detail by Childs [ 47 , 48 ].

In summary, modern human genetics began when new advances in genetics were systematically applied in medicine from 1949 on. A close relationship between genetics and medicine evolved into human genetics. This contributes greatly to an understanding of the causes of human diseases. In addition, genetic counseling based on empathy and free decision-making of individuals has become part of patient care. Human genetics had become “medicalized” [ 40 ].

Supplementary information

Acknowledgements.

Frank Kaiser, Bernhard Horsthemke, Christel Depienne, Jasmin Beygo and Deniz Kanber provided valuable comments. Mary F Passarge made useful suggestions about the style of the text. I thank three anonymous reviewers for constructive criticisms and helpful suggestions.

Open Access funding enabled and organized by Projekt DEAL.

Compliance with ethical standards

The author declares no conflict of interest.

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

The online version of this article (10.1038/s41431-020-00785-7) contains supplementary material, which is available to authorized users.

Realizing the benefits of human genetics and genomics research for people everywhere.

2022 DNA Day Essay Contest: Full Essays

1 st Place : Man Tak Mindy Shie, Grade 12 Teacher: Dr. Siew Hwey Alice Tan School: Singapore International School (Hong Kong) Location: Hong Kong, China

Many would say that the most significant stride in recent genetics has been the completion of the human genome, which laid the basis for studying genetic variation. However, let us not forget that this began with the understanding of heredity based on Gregor Mendel’s observations in 1857.

Observations from Mendel’s pea plant hybridization experiments led to two fundamental principles of inheritance (1). The first was the Law of Segregation, which states that reproductive gamete cells transmit only one allele to their offspring. This means that a diploid offspring will inherit one allele from each parent. We now understand genes to be the units of heredity that carry genetic information and alleles to be different variants of a gene (2). Mendel’s second principle, the Law of Independent Assortment, states that alleles are assorted independent of each other during gamete formation, leading to individual traits being inherited independently (1). Additionally, Mendel discovered that alleles could either be dominant or recessive. An allele that constituted a phenotypic trait over the other in a heterozygous genotype was labeled dominant, while the other phenotypically unexpressed allele was called recessive (3). A class of diseases was subsequently named after Mendel as they follow the same observations; Mendelian disorders are inherited monogenic diseases that result from mutation at a single gene locus (4). A notable example is phenylketonuria, where loss-of-function mutations in the PAH gene cause systemic excess phenylalanine, resulting in behavioral abnormalities (5).

Mendel’s Laws still provide important insight in understanding Mendelian traits. For example, the Law of Segregation created the basis of dominant and recessive phenotypic ratios (6). The phenotypic ratios in family pedigrees thus allow inference of dominant and recessive traits. This is additionally helpful when an unknown disorder is found to be a Mendelian trait. Since Mendelian traits have complete penetrance, i.e. individuals carrying the pathogenic variant always express the associated trait, it is possible to search for the gene-of-interest when parental genomes are also sequenced. In present-day analysis, Whole Exome Sequencing leverages the fact that most complete penetrance genes lie in the coding region of the genome; this reduces cost and search space for identifying novel diseases (7).

We now know that the Law of Independent Assortment is applicable only when traits are located on different chromosomes. Therefore, it is important in laying the assumption of the lack of linkage between different traits whose loci are genetically far apart. Traditionally, linkage analysis used this prerequisite to identify specific loci within the disease-causing organism, as genes in proximity are often in linkage and do not sort independently (7). Regardless, this stipulation could lead to the belief that the Law of Independent Assortment has less direct value in understanding Mendelian disorders.

In contrast to monogenic diseases, complex diseases arise from multiple genetic and/or environmental factors, displaying complicated inheritance and genetics (1,8). Asthma, for example, was shown to be associated with more than 100 genes with significant inter-population variation (9), and is clinically associated with environmental allergens. Researchers are still looking for contributing variants of many common complex diseases as, unlike Mendelian Disorders, the additive inheritance explained by the associated variants does not explain the genetic contribution to the disease determined by twin studies (8). This is known as the ‘missing heritability problem’, and has prompted scientists to look for other clues.

One way to unravel complex disease genetics lies in the functional characterization of gene variants. Mendelian Diseases thus became an important way to study the link between the genotype-phenotype relationship due to a clear causal relationship and complete penetrance. This puts us in a better position to understand why a variant results in a phenotypic trait (6). Moreover, Mendelian traits allow us to elucidate the functional perturbation due to the mutation itself, providing an excellent opportunity to understand how a change in RNA/protein function caused by mutations can contribute to pathogenesis (6). When variants within complex traits, whether rare or common, are involved within neighboring variants of Mendelian traits, molecular insight may be provided regarding the pathways involved in pathogenesis. Therefore, studying the molecular basis of Mendelian traits could provide essential clues to the bigger puzzle of complex disease.

In the late 2000s, Genome-Wide Associated Studies focused on complex traits and forced Mendelian Diseases to take a back seat; yet today we find that many genetic variants must first be understood through studying Mendelian Diseases. While most Mendelian Diseases are low in incidence, they nonetheless provide valuable lessons as we continue on our journey to understand human genetics.

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2 nd Place: Gillian Wells, Grade 11 Teacher: Mrs. Rebecca Hodgson School: Ulverston Victoria High School Location: Ulverston, England, UK

Mendel is often referred to as the “Father of Modern Genetics” (1). Prior to his experiments in plant hybridization, it was believed inherited traits resulted from blending the traits of each parent (2). From his studies, Mendel derived three principles of inheritance: the laws of dominance (in a heterozygote, the dominant allele conceals the presence of the recessive allele), segregation (each individual possesses two alleles for a specific trait, one inherited from each parent, and segregated during meiosis) and independent assortment (alleles for separate traits are inherited independently) (3, 4).

These principles give a pattern of inheritance followed by Mendelian or monogenic disorders – disorders caused by variation in a single gene (5). Mendel’s law of dominance explains the pattern of inheritance for autosomal dominant monogenic disorders, which present in individuals with only one dominant mutated allele (2). The heredity of dominant disorders – for example, Huntington’s disease and myotonic dystrophy – therefore follow the same pattern as the dominant traits Mendel observed in pea plants (4, 6). Mendel’s law of dominance also explains the pattern of inheritance for autosomal recessive monogenic disorders, which are not expressed in heterozygous individuals (carriers) as the dominant allele ‘hides’ the mutated recessive allele. Therefore, in families with multiple affected generations, the disorder will appear to ‘skip’ generations, only presenting in individuals that inherit two recessive mutated alleles of the same gene, one from each parent, as explained by Mendel’s law of segregation (2). The heredity of recessive disorders – for example, phenylketonuria and cystic fibrosis – therefore follow the same pattern as the recessive traits Mendel observed in pea plants (4, 6).

This understanding of inheritance patterns establishes the causal relationship between genes and Mendelian disorders, between genotype and phenotype (7). From this, many Mendelian disorder gene identification approaches have been developed, from positional cloning and linkage mapping to whole exome and genome sequencing (8, 9). The results are compiled in Online Mendelian Inheritance in Man (OMIM), a comprehensive database of human genes and genetic disorders, with over 26,000 entries describing over 16,000 genes and 9,000 Mendelian phenotypes (10, 11). Identifying these causal genes improves understanding of specific Mendelian disorders, allowing for molecular diagnosis and carrier testing (9).

In contrast, complex or polygenic diseases are caused by variation in multiple genes interacting with environmental and lifestyle factors, and so do not follow Mendelian inheritance patterns (12). However, widespread comorbidity between Mendelian disorders and complex diseases has been identified, suggesting a genetic association (14). Recent studies have shown that nearly 20% of the identified genes underlying Mendelian disorders contain variants responsible for genome-wide association study (GWAS) signals that cause complex diseases. 15% of all genes underlie Mendelian disorders. Mendelian genes are therefore enriched in GWAS signals and so contribute to the etiology of corresponding complex diseases (13, 14).

Given that different variants of the same gene can give rise to several different phenotypes, some Mendelian genes carry variants that contribute to complex diseases as well as causal variants for Mendelian disorders (13, 15). For example, the gene ABCA4 causes the monogenic conditions retinitis pigmentosa and Stargardt disease, as well as the complex disease age-related macular degeneration (15). Therefore, selecting genes that cause Mendelian disorders for candidate gene association studies can reveal variants that contribute to the etiology of complex diseases, allowing their genetic basis to be understood (10).

Given this genetic association between Mendelian disorders and complex diseases, the identification of Mendelian genes and knowledge of their expression can be used to further understand the mechanisms of associated complex diseases. An example in cardiovascular disease (CVD) research is the identification of causal genes for the monogenic disorder severe hypercholesterolemia. This has provided invaluable insights into lipid transport, leading to an improved understanding of CVD. From this, successful therapies have been developed for CVD using knowledge of the relevant genes and pathways (16). Mutation mechanisms observed in Mendelian disorders that can provide insight into complex disease include anticipation, gene dosage effects, and uniparental disomy (10).

Overall, Mendel’s discoveries revolutionized genetics, creating a model of inheritance that led to advancements in the diagnosis, treatment, and genetic understanding of inherited Mendelian disorders. In turn, research of Mendelian disorders has provided an understanding of the causes and mechanisms of complex diseases through genetic association – up to 23% of genes known to cause Mendelian disorders have been associated with a complex disease (17). The study of Mendelian phenotypes has and will continue to provide breakthroughs in the development of treatments and therapies of all genetic disorders (10).

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3 rd Place: Yiyang Zhang, Grade 11 Teacher: Dr. Qiongyu Zeng School: Shanghai High School International Division Location: Shanghai, China

Natural populations are characterized by astonishing phenotypic diversity determined by genes and dynamic environmental factors. In 1865, Gregor Mendel showed how traits are passed between generations through his classical pea crosses, giving us the first insight into the heritable basis of phenotypic variation [1]. Mendel’s findings revolutionized the concept of genotype-phenotype relationships and laid the foundation for modern genetics. However, our understanding of the spectrum and continuum between Mendelian and non-Mendelian diseases remains incomplete, and more work is needed to fully unravel the mechanisms underlying human diseases [2].

Mendelian diseases such as sickle cell anemia are characterized by monogenic genetic defects that result in discrete phenotypic differences [3]. Such Mendelian mutations are thought to segregate in predictable patterns, similar to the simple traits Mendel demonstrated in his pea crosses. Indeed, genetic mapping in family-based studies has led to remarkable discoveries of rare chromosomal abnormalities in patients with Mendelian diseases such as Duchenne muscular dystrophy [4]. However, even monogenic diseases follow a Mendelian inheritance pattern only sporadically. For example, in cystic fibrosis (CF), which has nearly 2000 mutant alleles in the primary causative gene Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) and six other loci associated with but not causing the disease, patients exhibit considerable interindividual variability in symptom severity [5, 6]. Thus, there is no pure Mendelian inheritance [7] or, in other words, there are essentially no simple diseases [8].

In Mendelian diseases, mutations in critical genes are usually embryologically lethal, which explains the low prevalence of Mendelian disorders in natural populations [9]. In contrast, common forms of human disease such as diabetes, heart disease, and cancer occur in previously healthy individuals, and instead of dominant disease-causing alleles, many weak genetic factors exert miniscule and accumulative effects on phenotypic outcomes. This multifactorial nature of complex diseases, which are either oligogenic or polygenic [10], means that they do not strictly adhere to Mendelian inheritance patterns in conventional mapping analyses, as segregation of genetic variants in the recombinant offspring of genetically distinct parents can easily hide extreme phenotypes and mask association signals. Therefore, researchers have developed a threshold model that assumes that there is a distribution of susceptibility for a particular trait in the population and that the trait only occurs when a threshold is exceeded [11]. This model could explain ‘all or none’ phenotypes such as cleft palate and why relatives of affected individuals are at higher risk of multifactorial traits such as hypertension or diabetes than the general population [12].

With the advent of genome-wide association studies (GWAS), which use a large sample of unrelated individuals, significant progress has been made in reliably identifying genes that influence the risk of complex diseases [13]. However, even though many thousands of disease susceptibility loci have been characterized, challenges remain, such as the ‘dark matter of inheritance’ that cannot be assigned for most complex traits [14]. Several explanations have been proposed for this, including numerous low-influence variants, rare variants, poorly recognized structural variants, and inadequate estimation of gene-gene and gene-environment interactions [15].

Gene interaction was first demonstrated in retinitis pigmentosa (RP). Since the structural integrity of retinal photoreceptors depends on the functional complexes formed by Retinal Degeneration Slow (RDS) and Rod Outer segment Membrane protein 1 (ROM1), mutations at discrete loci disrupt digenic interactions and produce the same phenotype as alleles of the same locus [16, 17]. This is a perfect example of how pushing the boundaries of Mendelian genetics can help us unravel the true physiological and cellular nature of complex diseases.

In addition to gene-gene interactions, gene-environment interactions also contribute to quantitative traits and trigger the occurrence of complex diseases such as asthma, which are influenced by numerous genetic and nongenetic factors [18]. Environmental factors can also influence traits epigenetically. For example, the more methyl donors such as folic acid or vitamin B12 are present in the diet of young mice, the higher the frequency of methylation at the CpG site of the agouti gene and the darker the coat coloration in adulthood [19, 20].

Our understanding of the causes of disease has evolved from a simplified paradigm of the Mendelian model (one variant-one disease) to a more sophisticated polygenic model. Expanding Mendelian concepts and constructing theoretical models with higher complexity is the first step toward creating a conceptual continuum between Mendelian and non-Mendelian genetic traits. In the long term, genomics and phenomics will continue to be inexhaustible sources of information to elucidate the genetic architecture of both single gene anomalies and complex diseases and to enable more personalized diagnosis and treatment.

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Honorable Mentions

Lena Chae Glenbrook South High School Glenview, Illinois Teacher: Mrs. Marianne Gudmundsson

Angelina Jolie, a famous actress, underwent bilateral mastectomy and oophorectomy to prevent hereditary breast and ovarian cancer that is prevalent in her family [1]. This was only possible because she was able to predict her risk of developing these cancers in her lifetime, which was substantially high enough to warrant prevention surgery. We now know that germline mutations found in BRCA1/2 genes are responsible for hereditary breast and ovarian cancer syndrome transmitted in an autosomal dominant fashion [2]. This discovery was made possible through progress in genetics which began with Mendel’s experiments in the 1800s [3].

Mendel’s discovery helped us better understand Mendelian disorders that involve single-gene mutations. First, the principles of inheritance found in plants opened up opportunities for scientists to apply their observations to patterns they noticed across human generations. This progress towards human studies from plants, helped scientists dissect human diseases that are inherited in a systematic manner. Second, Mendel’s discoveries allowed us to discover and understand the genetic material known as DNA. Because of Mendel’s observations, Watson and Crick were able to demonstrate the structure of the DNA molecule through their discovery of the double helix [4]. The Human Genome Project led by Craig Venter and Francis Collins laid the foundation for us to locate genes responsible for pathogenesis [5]. Third, understanding both the inheritance pattern of specific human hereditary diseases, along with the knowledge of the sequences in the human genome, contributed to the specific discovery of the mutations in such hereditary diseases. For instance, mutations in the HTT gene can cause Huntington’s disease [6], while mutations in the CFTR gene can cause cystic fibrosis [7]. Due to Mendel’s original discovery and experiments, scientists have been able to link genetics to human pathology.

The study of Mendelian disorders aided in a better understanding of complex diseases in two different ways. First, pedigree studies, or family tree analysis, were used to study monogenic Mendelian disorders with high penetrance; this led to a realization that many human diseases cannot be explained by the Mendelian principle of inheritance. Except for a few hereditary diseases, most human diseases involve more than one gene abnormality when comparing the affected versus unaffected members within a family. This finding led to the concept of stepwise multigene abnormalities and environmental interaction with respect to pathogenesis. Second, Genome-Wide Association Studies (GWAS), which is the population-level study of genes and human diseases, could be understood as an aggregate of linkage analyses based on Mendelian principles [8]. It also extended the field of genetics. GWAS made it possible for scientists to define the role of single DNA mutations in complex diseases. Hundreds of thousands of single-nucleotide polymorphisms (SNPs) can be tested to explore the associations between these variants and disease in larger populations. For example, through the GWAS study, over 40 loci have been found to be associated with Type 2 Diabetes Mellitus (DM) [9]. Another highly heritable psychiatric disorder, schizophrenia, is linked with 108 genetic loci according to a GWAS consisting of more than 150,000 samples [10]. An improved understanding of comprehensive genomic mutations involved in such complex diseases led to the creation of a risk profile score (RPS), which is currently used to predict the risk of such disease development [11].

However, human diseases can sometimes be more than just changes in DNA. Both pedigree analysis and GWAS assume that hereditary diseases can fully be explained by genetic mutations. But epigenetic changes can be equally or more important [12]. Epigenetic processes such as DNA methylation or histone modifications, triggered by environmental and behavioral changes, may turn the target gene expressions “on” or “off”. Furthermore, protein modification may also play a role in pathogenesis. Therefore, to better understand complex diseases, it is critical to utilize both the study of genetics stemming from Mendel’s discoveries, and the non-genetic processes including epigenetics, transcriptomics, and proteomics [12].

In summary, Mendel’s discovery helped us better understand Mendelian disorders but also more complex diseases. Owing to Mendel’s principles of inheritance, scientists are now equipped with platforms and techniques to analyze both Mendelian disorders and complex diseases. Individualized treatments are now made possible through accurate diagnoses including identification of mutations leading to disease. Just as Angelina Jolie was able to prevent hereditary breast and ovarian cancer through germline DNA profiling, further in-depth DNA screening in a population can lead to a significant reduction in the risk of various hereditary and complex diseases.

Jolie, A. (2013, May 14). My Medical Choice. New York Times, pp. 25–25.
Rebbeck, T. R., Friebel, T., Lynch, H. T., Neuhausen, S. L., van ’t Veer, L., Garber, J. E., Evans, G. R., Narod, S. A., Isaacs, C., Matloff, E., Daly, M. B., Olopade, O. I., & Weber, B. L. (2004). Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: THE PROSE Study Group. Journal of Clinical Oncology, 22(6), 1055–1062. https://doi.org/10.1200/jco.2004.04.188
B. (2021, May 21). Gregor Mendel. Biography. https://www.biography.com/scientist/gregor-mendel
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Adams, J. (2008) Sequencing human genome: the contributions of Francis Collins and Craig Venter. Nature Education 1(1):133
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Manolio T. A. (2010). Genomewide association studies and assessment of the risk of disease. The New England journal of medicine, 363(2), 166–176. https://doi.org/10.1056/NEJMra0905980
Hakonarson, H., & Grant, S. F. (2011). Genome-wide association studies (GWAS): impact on elucidating the aetiology of diabetes. Diabetes/metabolism research and reviews, 27(7), 685–696. https://doi.org/10.1002/dmrr.1221
Schizophrenia Working Group of the Psychiatric Genomics Consortium (2014). Biological insights from 108 schizophrenia-associated genetic loci. Nature, 511(7510), 421–427. https://doi.org/10.1038/nature13595
Xiao, E., Chen, Q., Goldman, A. L., Tan, H. Y., Healy, K., Zoltick, B., Das, S., Kolachana, B., Callicott, J. H., Dickinson, D., Berman, K. F., Weinberger, D. R., & Mattay, V. S. (2017). Late-Onset Alzheimer’s Disease Polygenic Risk Profile Score Predicts Hippocampal Function. Biological Psychiatry: Cognitive Neuroscience and Neuroimaging, 2(8), 673–679. https://doi.org/10.1016/j.bpsc.2017.08.004
Centers for Disease Control and Prevention. (2020, August 3). What is epigenetics? Centers for Disease Control and Prevention. Retrieved March 1, 2022, from https://www.cdc.gov/genomics/disease/epigenetics.htm

Aadit Jain International Academy Bloomfield Hills, Michigan Teacher: Mrs. Suzanne Monck

Nearly two centuries ago, Gregor Mendel launched the scientific community into the vast world of genetics and diseases with his experiments on the common pea plant (1,2). Specifically, his principles have been instrumental in the plethora of discoveries that have been made in Mendelian disorders. With around 400 million people worldwide suffering from one of the 7,000 Mendelian disorders, much research today centers on identifying the genetic causes of these diseases (3). While Mendel was unaware of genes and DNA when he conducted his study (2), his discoveries kickstarted the substantial research that scientists have undertaken on Mendelian disorders.

Mendel’s principles have directly allowed scientists to understand how Mendelian disorders are inherited. For example, his notable discovery that phenotypes of recessive traits can skip generations (2) applies to Mendelian disorders in the case of carriers (4). These are individuals who may not display the disorder phenotype but still carry and can pass on the altered gene (4). Therefore, it is essential to analyze pedigrees of affected families to determine whether the disease-causing gene has a dominant or recessive phenotype. Importantly, this knowledge helps genetics professionals understand the risk that individuals have of passing on a disorder (5). For example, a person who suffers from an autosomal dominant disorder bears a 50% chance of passing the affected gene to each offspring (5). In contrast, two heterozygous parents for an autosomal recessive disorder have a 25% chance of having an offspring affected with the disorder with each pregnancy (5).

Mendel’s principles of uniformity, segregation, and independent assortment demonstrate how genes and alleles are inherited (2). However, subsequent research revealed exceptions such as the sex-linked pattern of inheritance (2,6). Contrary to inheritance of autosomal single-gene diseases, males and females receive a different number of copies of the implicated gene for sex-linked disorders due to their respective pairs of sex chromosomes (1). As a result, sex-linked diseases tend to be prevalent in only one gender (1). For example, Hemophilia A, a blood clotting disorder, typically affects only males because it is an X chromosome-linked recessive disease (1). It is evident that although Mendel’s principles have laid a strong foundation of inheritance patterns, the scientific community’s understanding of Mendelian disorders is greatly enhanced through new research.

Mendel’s discoveries have been fundamental in developing effective methods to test for disorders. With the understanding that the same allele codes for a specific phenotype, researchers have individuals with the same phenotype disorder undergo sequencing in order to identify the defective gene (7). Such was the case in 2010, when scientists discovered that the MLL2 gene was responsible for Kabuki syndrome: 7 out of 10 individuals in the group suffered from a loss of function in that gene (7). Since then, with the Matchmaker Exchange (MME) and the Monarch Initiative, there has been an emphasis on sharing phenotype and genotype data in order to discover new Mendelian disorders (7).

Although complex diseases are influenced by several factors and do not fully follow the inheritance patterns (8), investigating Mendelian disorders can provide insight into the implicated genes and pathways in them. By analyzing data from established databases, genetic researchers found that in fact 54% of Mendelian disease genes play a notable role in complex diseases as well (9). Genes underlying both diseases tend to be associated with more phenotypes and protein interactions, so studying them can be quite useful in understanding Mendelian disorders and consequently complex diseases (9). In some cases, individuals diagnosed with complex diseases have an underlying monogenic condition that is the cause (10). This specifically highlights the significance of research techniques for single-gene disorders to investigations of complex diseases. In the case of hypercholesterolemia, for example, monogenic forms of the disease were used to determine the impact of lipid transport and to identify the involved pathways in the development of this complex disease (10).

Research on Mendelian disorders has helped scientists understand gene function and mechanisms overall. Studying single-gene disorders can further provide insight into the genetic pathways of complex diseases (9). In fact, with genome-wide association studies (GWAS) into single nucleotide polymorphisms (SNP), thousands of genes implicated in complex diseases have been identified (9). Although many details of complex diseases have been established, heritable aspects still remain uncertain (9). Overall, knowledge of Mendel’s principles and Mendelian disorders will be essential in this case and others as research delves further into disease processes.

Chial, Heidi. “Mendelian Genetics: Patterns of Inheritance and Single-Gene Disorders.” Edited by Terry McGuire. Nature Education, 2008, www.nature.com/scitable/topicpage/mendelian-genetics-patterns-of-inheritance-and-single-966/.
Miko, Ilona. “Gregor Mendel and the Principles of Inheritance.” Edited by Terry McGuire. Nature Education, 2008, www.nature.com/scitable/topicpage/gregor-mendel-and-the-principles-of-inheritance-593/.
Ganguly, Prabarna. “NIH funds new effort to discover genetic causes of single-gene disorders.” National Human Genome Research Institute, 15 July 2021, www.genome.gov/news/news-release/NIH-funds-new-effort-to-discover-genetic-causes-of-single-gene-disorders.
“Carrier.” National Human Genome Institute, www.genome.gov/genetics-glossary/Carrier.
“If a genetic disorder runs in my family, what are the chances that my children will have the condition?” MedlinePlus, medlineplus.gov/genetics/understanding/inheritance/riskassessment/.
Nickle, Todd, and Isabelle Barrette-Ng. “3.5: Sex-Linkage- An Exception to Mendel’s First Law.” Biology LibreTexts, 3 Jan. 2021, bio.libretexts.org/Bookshelves/Genetics/Book%3A_Online_Open_Genetics_(Nickle_and_Barrette-Ng)/03%3A_Genetic_Analysis_of_Single_Genes/3.05%3A__Sex-Linkage-_An_Exception_to_Mendels_First_Law.
Seaby, Eleanor G., et al. “Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes.” Frontiers in Genetics, 17 June 2021, www.frontiersin.org/articles/10.3389/fgene.2021.674295/full.
Craig, Johanna. “Complex Diseases: Research and Applications.” Edited by Alexandre Vieira. Nature Education, 2008, www.nature.com/scitable/topicpage/complex-diseases-research-and-applications-748/.
Jin, Wenfei, et al. “A systematic characterization of genes underlying both complex and Mendelian diseases.” Human Molecular Genetics, vol. 21, no. 7, 20 Dec. 2011, academic.oup.com/hmg/article/21/7/1611/2900796.
Chong, Jessica X., et al. “The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.” Science Direct, www.sciencedirect.com/science/article/pii/S0002929715002451.

Sharanya Ravishanker Conestoga High School Berwyn, Pennsylvania Teacher: Mrs. Liz Gallo

Through his genetic experimentations with pea plants, Gregor Mendel established the following Laws of Inheritance that remain critical to our understanding of heredity: The Law of Segregation, The Law of Independent Assortment, and The Law of Dominance (1, 2). In summation, phenotypes—expressed characteristics—are correlated with the type of allele inherited from each parent during gamete formation when genes randomly separate. If an allele is dominant, it is expressed; if an allele is recessive, the associated characteristic will not be displayed unless a matching recessive allele is inherited from the other parent.

These laws and inheritance patterns form the basis of our understanding of Mendelian disorders, rare monogenic diseases caused by alterations—often single-nucleotide polymorphisms (SNPs) and corresponding amino-acid substitutions resulting in the production of unwanted or malfunctioning proteins—in just one of the 25,000 genes in a human genome (3, 4, 5). These mutations typically occur in germline cells, and are thus passed down through DNA to every cell of the offspring (6). Well known Mendelian diseases include cystic fibrosis, sickle cell anemia, and Huntington’s disease.

Through the application of Mendel’s Laws, geneticists have identified five modes of inheritance for Mendelian disorders: autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive, and mitochondrial (7), paving the way for geneticists to accurately diagnose Mendelian disorders, a step crucial in providing patients with the treatment and specific care they require, as well as revealing significant information vital to the family planning of individuals who carry recessive alleles for threatening disorders. Genealogical records and pedigree analyses have been utilized to trace inheritance through families, but next-generation sequencing technology has gained traction as a method to detect changes in nucleotide orders. Exome-sequencing, for example, focuses on identifying variants in the protein-coding region (exons), and is regarded as cost-effective due to its specificity, focusing on only 1% of the human genome (8, 9, 10). On the other hand, whole genome sequencing can be advocated for due to its capture of DNA variations outside of exons as well as within. Still, as benign polymorphisms are highly prevalent and frequent, entire genome sequencing can make it difficult to prioritize harmful mutations due to the sheer amount of variants shown (9, 11). RNA sequencing can provide support here by quantifying the effect to which a gene is expressed (11, 12 ).

Information gathered from these methods and Mendelian principles regarding dominance also enable geneticists to determine trait-associated gene loci, allowing for a better understanding of protein formation, modification, and function (13). In fact, as Rockefeller University president and accomplished biochemist Dr. Richard Lifton notes, understanding the connection between genes and expressed traits—SNP and product—has served as “starting points for understanding disease and human biology in general”. For example, analysis of a Mendelian form of hypertension resulted in the discovery of a pathway regulating salt reabsorption and potassium secretion in the kidney (14). Similar discoveries of pathways as a result of studies into Mendelian disorders can increase our understanding and ability to treat complex disorders such as cancer, even if these diseases disregard Mendelian principles of inheritance on account of being caused by numerous genetic and environmental factors interacting with one another.

In the same vein, understanding the results of SNP modification allows for research into the genetic susceptibility for various complex disorders and its correlation with environmental exposure. For example, it was determined that individuals whose genotype is homozygous recessive for xeroderma pigmentosum are highly susceptible to UV light related disorders due to mutations in DNA-repairing genes. Similarly, individuals with a mutation in the Alpha-1 gene are at a greater risk for emphysema, especially through smoking, though the mutation itself isn’t causative of the disease (15). The aforementioned linkages between genes and phenotypes would not be possible without the research into Mendelian disorders that revealed crucial information regarding the impacts of individual genes on expressed phenotypes.

Overall, studies into Mendelian diseases—in turn impacted by the understanding of Mendel’s Laws of Inheritance—have contributed significantly to our knowledge of more complex disorders. This knowledge will prove beneficial in developing more efficient medicinal drugs and therapies that effectively target detrimental proteins or alter gene expression to receive desired results (16). As Dr. James Luspki, Professor of Molecular and Human Genetics at Baylor College of Medicine says, “We’re on the threshold of new explanations of disease inheritance and development” (14). Resulting discoveries from studies into Mendelian principles and disorders will undoubtedly clear the way towards greater advancements in our ability to treat complex disorders.

References/Citations: Mendel’s Law of Segregation. 15 Aug. 2020, https://bio.libretexts.org/@go/page/13271. “Inheritance of Traits by Offspring Follows Predictable Rules.” Nature. Scitable by Nature Education, www.nature.com/scitable/topicpage/inheritance-of-traits-by-offspring-follows-predictable-6524925/#:~:text=One%20allele%20for%20every%20gene,same%22)%20for%20that%20allele. Accessed 22 Feb. 2022. Jackson, Maria et al. “The genetic basis of disease.” Essays in biochemistry vol. 62,5 643-723. 2 Dec. 2018, doi:10.1042/EBC20170053 Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: Evolutionary evidence for differences in molecular effects. Paul D. Thomas, Anish Kejariwal. Proceedings of the National Academy of Sciences Oct 2004, 101 (43) 15398-15403; DOI: 10.1073/pnas.0404380101 The 1000 Genomes Project Consortium. A global reference for human genetic variation. Nature 526, 68–74 (2015). https://doi.org/10.1038/nature15393 “Germline Mutation.” National Cancer Institute, www.cancer.gov/publications/ dictionaries/cancer-terms/def/germline-mutation. Accessed 22 Feb. 2022. Genetic Alliance; District of Columbia Department of Health. Understanding Genetics: A District of Columbia Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2010 Feb 17. Appendix B, Classic Mendelian Genetics (Patterns of Inheritance) Available from: https://www.ncbi.nlm.nih.gov/books/NBK132145/ “Exome Sequencing.” Science Direct, 2018, www.sciencedirect.com/topics/ agricultural-and-biological-sciences/exome-sequencing. Accessed 22 Feb. 2022. “What are whole exome sequencing and whole genome sequencing?” MedlinePlus, 28. July 2021, medlineplus.gov/genetics/understanding/testing/sequencing/. Accessed 22 Feb. 2022. Bamshad, M., Ng, S., Bigham, A. et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 12, 745–755 (2011). https://doi.org/10.1038/nrg3031 Byron, S., Van Keuren-Jensen, K., Engelthaler, D. et al. Translating RNA sequencing into clinical diagnostics: opportunities and challenges. Nat Rev Genet 17, 257–271 (2016). https://doi.org/10.1038/nrg.2016.10 Wang, Zhong et al. “RNA-Seq: a revolutionary tool for transcriptomics.” Nature reviews. Genetics vol. 10,1 (2009): 57-63. doi:10.1038/nrg2484 Chial, H. (2008) Rare Genetic Disorders: Learning About Genetic Disease Through Gene Mapping, SNPs, and Microarray Data. Nature Education 1(1):192 Benowitz, Steven. “Centers for Mendelian Genomics uncovering the genomic basis of hundreds of rare conditions.” National Human Genome Research Institute, 6 Aug. 2015, www.genome.gov/news/news-release/ Centers-for-Mendelian-Genomics-uncovering-the-genomic-basis-of-hundreds-of-rare-conditions. Accessed 22 Feb. 2022. Craig, J. (2008) Complex diseases: Research and applications. Nature Education 1(1):184 Heguy, A et al. “Gene expression as a target for new drug discovery.” Gene expression vol. 4,6 (1995): 337-44.

Zhiyuan Shi BASIS International School Hangzhou Hangzhou, China Teacher: Dr. Dongchen Xu

Mendelian theories provided the foundations for the contemporary understanding of heredity. Mendel’s legacy has been particularly beneficial to medical sciences, where research on inheritance patterns of Mendelian disorders has been made possible through utilizing Mendel’s theory. Mendelian theories serve as robust models for evaluating and verifying the inheritance patterns of particular diseases. Even though our current understanding of genetics has moved beyond the Mendelian model, studying certain Mendelian disorders such as oculocutaneous albinism can lead to an improved understanding of complex disorders with polygenic inheritance.

Oculocutaneous albinism is an autosomal-recessive condition caused by the extremely low level of melanin biosynthesis due to mainly four genes (1, 2). Individuals with this illness will also experience whitening of the skin, certain degrees of vision deterioration, and a higher risk of contracting skin cancer due to the lack of dermal melanin (1, 2); understanding the underlying inheritance pattern of albinism would be advantageous towards the prevention of skin cancers. The genetic cause of oculocutaneous albinism can be explained by Mendelian genetics. The disorder is autosomal, meaning neither the gender of the parents nor the gender of the offspring plays a role in its inheritance. The disorder is recessive, meaning both parents must be carriers for birthing an Albino child (3). Through examination of information like the ones above and specific pathology of the disorder, one can establish critical predictions of an offspring’s genotype based on the family’s history. Such analyses enable us to speculate and reconstruct pedigrees for Mendelian disorders using family history. Information regarding Mendelian disorders running in the family and the possible genotypes for offsprings (50% risk of being carriers and 25% risk of being affected) are important to parents seeking family planning suggestions, reinforcing prevention.

Mendelian and non-Mendelian diseases are often regarded as segregated families of genetic disorders. Complex non-Mendelian disorders involve polygenic traits that don’t follow Mendelian disorders’ monogenic properties. However, genes responsible for monogenic diseases correspondingly contribute to the expression of polygenic traits (4). Mendelian disorders are key in providing the individual monogenic components that contribute to complex disease’s polygenic causes. Some of the gene variants responsible for skin pigmentation disorder and skin cancer are the exact genes responsible for the pigment deficiency in the Mendelian disorder oculocutaneous albinism. The 2 most notable ones are variants of the gene TYRP1, a gene coding for the protein tyrosinase-related protein 1, which contributes to melanosome integrity; and gene SLC45A2, which code for a cation exchange protein that transports material required for melanin synthesis into the melanosome (2, 6, 7). Variants of these genes are inherited as monogenic traits, and studies show they contribute to the formation of polygenic skin cancers such as squamous skin cell carcinoma (8). Mendelian inheritance of other variants of the 2 listed genes can even cause other polygenic skin cancers such as melanoma, exhibiting excessive melanin levels. Research showed that heterozygous variants of TYRP1 and SLC45A2 are overrepresented in families with multiple cases of melanoma (9).

Although overrepresentation of SLC45A2 is found in cases of melanoma, variants of the gene can have the opposite effect. A meta-analysis conducted by Ibarrola-Villava et al., 2012, revealed that the SLC45A2 p.Phe374Leu variant had an odds ratio of 0.41 for melanoma (p = 3.50 * 10^-17), enough for concluding that SLC45A2 p.Phe374Leu negatively correlates with melanoma formation (13). This and the previous evidence suggest that factors affecting melanin concentration, one of the key determinants for the presence of different types of polygenic skin cancers, could be partially attributed to the variants of TYRPI and SLC45A2 genes that involve Mendelian inheritance mechanisms.

Another polygenic disorder with Mendelian roots is growth disorder, in which several genes that contribute to the complex disorder of growth disorders are monogenic. For instance, one factor contributing to the common short stature in growth disorders such as dwarfism is the autosomal dominant Mendelian disorder achondroplasia, resulting from the Mendelian inheritance of the mutated FGFR3 gene (10,11). Another monogenic disorder that contributes to growth disorders such as dwarfism is growth hormone deficiency, an autosomal recessive disorder resulting from the mutation and Mendelian inheritance of the mutated GH1 or GHRHR gene (12).

The Mendelian factors underlying both skin cancer and growth disorders demonstrated the value of studying Mendelian inheritance patterns in complex disorders. Although Mendelian diseases only contribute to a small proportion of all known human disorders, understanding their underlying mechanism and pattern, and utilizing them alongside conventional methods for the investigation of complex diseases is of great importance(5), and would produce spectacular innovations in the field of genetics.

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Del Bino, S., Duval, C., & Bernerd, F. (2018, September 8). Clinical and biological characterization of skin pigmentation diversity and its consequences on UV impact. International journal of molecular sciences. Retrieved March 1, 2022, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6163216/
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Audric Thakur Reading School Reading, United Kingdom Teacher: Ms. Francis Howson

Mendel’s research intended to determine how characteristics of an individual were inherited by their offspring. At the time, the scientific community lacked the genotypic knowledge required to explain how genetic information was transferred to an individual¹. Only in 1826 did Augustin Sageret discover the idea of trait dominance³ (amid a cultural resurgence of Preformation Theory²), and so it was through observational study that Mendel developed the laws of heredity which ground our understanding of Mendelian disorders today.

Most famous of Mendel’s work are those regarding the rugosus locus and the presence or absence of the SBE1 gene⁴, phenotypically expressed by the distinctive ’round’ or ‘wrinkled’ shapes of pea pods respectively⁵. Specifically, he determined the recessive nature of the wrinkled trait through his monohybrid crossing of a uniformly heterozygous generation of pea plants (which themselves were the progeny of a homozygous-dominant and homozygous-recessive cross)⁵. Naturally, this uniform generation of heterozygous peas all possessed the round characteristic. However, Mendel proved that these peas retained their parents’ ‘elementen’⁵ (or more accurately, DNA), since they went on to produce offspring with characteristics from the grandparent generation, evidenced by the 3:1 ratio of round to wrinkled offspring – clear to us now through use of a Punnett square⁶. Of course, these results were the aggregate of a large sample size across several iterations⁵, and therefore incredibly precise (to the point of controversy⁷). As such, they formed the basis for his laws of heredity.

Deriving Mendel’s laws from his work on pea plants is critical to understanding monogenic conditions because their inheritance patterns are often identical⁸, enabling us to make accurate comparisons between the two. This is demonstrated by the Mendelian condition phenylketonuria (PKU)⁹-¹⁰, an autosomal recessive disorder caused by an absent PAH gene at the genetic locus 12q23.2¹⁰.

Citing national Newborn Screening Reports¹¹, 1.7606% of Caucasian-Americans (1996-2000) are heterozygous carriers of PKU. If I apply some simplified mathematics (i.e. ignoring lifestyle factors), the probability of both parents in a Caucasian-American household being carriers of PKU is 0.0310% (0.017606²). Therefore, as per the rules of inheritance followed by Mendel’s pea plants, 0.0077% (0.0310*0.25) of the Caucasian-American population should be expressors of PKU. According to the National Library of Medicine¹¹, the official estimate is 0.0075% – a remarkable example of the accuracy and utility of Mendel’s work, and how understanding and implementing his discoveries has relevant real-world significance, being comparable to large-scale medical statistics to this day.

Unfortunately, it must be noted that Mendelian disorders are an exceptional minority of genetic conditions – the emerging consensus that most exist on a spectrum from Mendelian conditions¹² (high gene penetrance and low gene-environment interaction¹³) to increasingly complex conditions (incomplete or varying gene penetrance and high gene-environment interaction¹³), and that complex disorders are influenced by a multitude of interconnected factors¹⁴. This is why scientists approach complex disorders by assessing risk of onset, rather than applying Mendelian rules of inheritance. Nevertheless, links between the genotypic expression of Mendelian conditions in an individual and the onset of associated complex disorders have been established in the last decade or so of scientific inquiry¹³.

Studies regarding Mendelian comorbidities alongside complex disorders have proved that genetic loci containing causal variants for both Mendelian disorders and complex disease tend to have a greater influence on the onset of a complex disorder compared to genes that pertain to risk factors for only that complex disorder¹³. This means, for an individual afflicted by a series of Mendelian disorders, the probability that they will develop a complex disorder whose determinant genes are simultaneously involved in expressing those Mendelian disorders is significantly higher¹³. For example, an increased risk of schizophrenia is involved with patients who carry genetic variants of Lujan-Fryns and velo-cardio-facial syndromes¹⁷ (clear correlation), and a higher likelihood of developing type-2 diabetes mellitus if the patient suffers from Huntington’s disease, Friedreich’s ataxia and beta-thalassemia¹⁵-¹⁶ (partially supported correlation). This demonstrates that Mendelian-associated genes are certainly influential in determining emergence of a complex disorder. Therefore, understanding inheritance patterns of these Mendelian conditions is essential to create an accurate way of ascertaining the risk of onset for more complex conditions.

Despite the elusive nature of inheritance patterns surrounding several complex disorders, insight can nevertheless be found in studying genes associated with Mendelian conditions. Due to their high penetrance and straightforward inheritance patterns¹³, these monogenic conditions are easy to diagnose and engage in research with, providing a unique foothold to better understand many complex conditions, and allowing us to form more realistic models to predict their onset¹⁸.

Note: citations from sources published prior to 2015 have been used for historical knowledge or to explain/discuss historical scientific experiments only. The exception to this is reference 15.

Durmaz, A. A., Karaca, E., Demkow, U., Toruner, G., Schoumans, J., & Cogulu, O. (2015). Evolution of genetic techniques: Past, present, and beyond. BioMed research international. Retrieved February 28, 2022, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385642/
Maienschein, J. (2005, October 11). Epigenesis and Preformationism. Stanford Encyclopedia of Philosophy. Retrieved February 28, 2022, from https://plato.stanford.edu/entries/epigenesis/#8
Zirkle, C. (1951, June). Gregor Mendel & his Precursors. Retrieved February 28, 2022, from https://www.mun.ca/biology/scarr/Zirkle_%281951%29_Gregor_Mendel_&_his_Precursors,%20Isis_42,97-104.pdf
Smith, A., & Martin, C. (2020, December 11). A history of wrinkled-seeded research in PEA. John Innes Centre. Retrieved February 28, 2022, from https://www.jic.ac.uk/advances/a-history-of-wrinkled-seeded-research-in-pea/
Miko, I. (2008). Gregor Mendel and the Principles of Inheritance. Nature news. Retrieved February 28, 2022, from https://www.nature.com/scitable/topicpage/gregor-mendel-and-the-principles-of-inheritance-593/
(while the citation doesn’t reference the SBE1 gene in particular, it does discuss other recessive pea plant traits, making it useful nevertheless) LibreTexts, O. S. (2021, September 22). 8.2: Laws of inheritance. Biology LibreTexts. Retrieved February 28, 2022, from https://bio.libretexts.org/Bookshelves/Introductory_and_General_Biology/Book%3A_Concepts_in_Biology_(OpenStax)/08%3A_Patterns_of_Inheritance/8.02%3A_Laws_of_Inheritace
Radlick, G. (2015, October 9). Beyond mendelfisher – eprints.whiterose.ac.uk. Beyond the “Mendel-Fisher controversy”. Retrieved February 28, 2022, from https://eprints.whiterose.ac.uk/91201/2/BeyondMendelFisher091015%5B1%5D.pdf
Chial, H. (2008). Mendelian Genetics: Patterns of Inheritance and Single-Gene Disorders. Nature news. Retrieved February 28, 2022, from https://www.nature.com/scitable/topicpage/mendelian-genetics-patterns-of-inheritance-and-single-966/
NHS. (2019, December 3). Phenylketonuria. NHS choices. Retrieved February 28, 2022, from https://www.nhs.uk/conditions/phenylketonuria/
Hillert, A., Anikster, Y., Belanger-Quintana, A., Burlina, A., Burton, B. K., Carducci, C., Chiesa, A. E., Christodoulou, J., Đorđević, M., Desviat, L. R., Eliyahu, A., Evers, R. A. F., Fajkusova, L., Feillet, F., Bonfim-Freitas, P. E., Giżewska, M., Gundorova, P., Karall, D., & Blau, N. (2020, July 14). The genetic landscape and epidemiology of phenylketonuria. The American Journal of Human Genetics. Retrieved February 28, 2022, from https://www.sciencedirect.com/science/article/pii/S0002929720301944
Arbesman, J., Ravichandran, S., Funchain, P., & Thompson, C. L. (2018, July 1). Melanoma cases demonstrate increased carrier frequency of phenylketonuria/hyperphenylalanemia mutations. Pigment cell & melanoma research. Retrieved February 28, 2022, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6013363/
12.Freund, M. K., Burch, K. S., Shi, H., Mancuso, N., Kichaev, G., Garske, K. M., Pan, D. Z., Miao, Z., Mohlke, K. L., Laakso, M., Pajukanta, P., Pasaniuc, B., & Arboleda, V. A. (2018, October 4). Phenotype-specific enrichment of mendelian disorder genes near gwas regions across 62 complex traits. The American Journal of Human Genetics. Retrieved February 28, 2022, from https://www.sciencedirect.com/science/article/pii/S0002929718302854
Spataro, N., Rodríguez, J. A., Navarro, A., & Bosch, E. (2017, February 1). Properties of human disease genes and the role of genes linked to mendelian disorders in complex disease aetiology. Human molecular genetics. Retrieved February 28, 2022, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409085/
Yong, S. Y., Raben, T. G., Lello, L., & Hsu, S. D. H. (2020, July 21). Genetic architecture of complex traits and disease risk predictors. Nature News. Retrieved February 28, 2022, from https://www.nature.com/articles/s41598-020-68881-8
Blair, D. R., Lyttle, C., Mortensen, J., Bearden, C., Jensen, A., Khiabanian, H., Melamed, R., Rabadan, R., Bernsdam, E., Brunak, S., Jensen, L., Nicolae, D., Shah, N., Grossman, R., Cox, N., White, K., & Rzhetsky, A. (2013, September 26). A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk. Define_me. Retrieved February 28, 2022, from https://www.cell.com/fulltext/S0092-8674(13)01024-6
(not disproving, but cautioning the results of 15) Montojo, M. T., Aganzo, M., & González, N. (2017, September 29). Huntington’s disease and diabetes: Chronological sequence of its association. Journal of Huntington’s disease. Retrieved February 28, 2022, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5676851/
Rizvi, S., Khan, A. M., Saeed, H., Aribara, A. M., Carrington, A., Griffiths, A., & Mohit, A. (2018, August 14). Schizophrenia in digeorge syndrome: A unique case report. Cureus. Retrieved February 28, 2022, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6188160/
Jordan, D., & Do, R. (2018, April 11). Using full genomic information to predict disease: Breaking down the barriers between complex and Mendelian Diseases. Annual Reviews. Retrieved February 28, 2022, from https://www.annualreviews.org/doi/10.1146/annurev-genom-083117-021136

Emma Tse Cheltenham Ladies’ College Cheltenham, United Kingdom Teacher: Ms. Helen Stuart

Between 1856 and 1865, Gregor Mendel conducted experiments on garden peas to investigate inheritance (1). His observations, notably his three principles of inheritance, form the basis of scientists’ grasp of monogenic (Mendelian) disorders today, which are caused by mutations in a single gene (2). Before Mendel’s discoveries, it was widely accepted that traits of progeny were a combination of those of each parent. However, when he cross-pollinated smooth-seeded peas with wrinkled-seeded peas, the offspring (F1 generation) only had smooth seeds as opposed to semi-wrinkled seeds. This gave rise to the concept of dominant traits, as well as his first principle: the principle of uniformity, which states that all offspring of parents with two distinct traits will inherit the same (dominant) trait of one parent (3). Mendel discovered recessive traits by self-pollinating a plant from the F1 generation, noting that its offspring (F2 generation) displayed a 3:1 ratio of smooth to wrinkled seeds (3). This proportion indicated that there was a hidden form of the trait, which Mendel acknowledged passed down to the F2 generation. Mendel also proposed the idea of each parent giving their offspring one heritable unit which he called “elementen”, and scientists now recognise this as genes – more specifically, alleles (2). Sickle-cell anaemia is a well-characterised autosomal recessive disease; those affected inherit two copies of a mutant beta-globin gene (1). Huntington’s disease, on the other hand, is an autosomal dominant disorder in which affected individuals possess at least one copy of the mutant HTT gene (1).

Mendelian disorders are relatively uncommon; on the other hand, complex diseases such as asthma and multiple sclerosis are more prevalent and arise from a combination of genetic, environmental and lifestyle factors (4). Therefore, complex diseases do not entirely adhere to Mendelian inheritance. They can be oligogenic or polygenic, meaning there are multiple genes each with their own mutations contributing to the disease’s phenotype (5). Studying Mendelian disorders allows researchers to examine the mutant gene’s effects on human biochemistry and physiology, thus furthering our understanding of the aetiology of complex, multifactorial diseases (4). An example is obesity, an increasingly pressing medical issue in developed countries. In congenital leptin disorder, a rare disease exhibiting an autosomal recessive inheritance pattern, severe obesity is a typical clinical feature. Affected individuals are unable to produce leptin because of mutations in the leptin encoding gene. Leptin acts on the hypothalamus to halt the production of neuropeptide Y, a neurotransmitter responsible for stimulating food, specifically carbohydrate, intake (6). Thus, studying congenital leptin disorder and other related Mendelian obesity disorders has helped scientists gain deeper insight into the complexity of the underlying causes behind obesity, one of which is the effects of leptin on the human body.

Another example is Van der Woude syndrome, an autosomal dominant condition caused by mutations in the IRF6 gene. It is characterised by a cleft lip and palate, hypodontia and lower lip pits (7). Interestingly, IRF6 mutations were also shown to be associated with non-syndromic isolated cleft lips and palates, which are complex traits and more prevalent in the general population than Van der Woude syndrome (8). This illustrates how the same defective gene could be responsible for rare inherited diseases and common medical conditions simultaneously. In essence, this shows Mendelian disorders and complex diseases that share overlapping phenotypes could be caused by the same sets of genetic aberrations (4).

Furthermore, systematic analyses using statistical methodologies have demonstrated that certain Mendelian disorders and complex diseases share a common genetic foundation. A study examining patients with concomitant Mendelian disorders and cancer revealed genetic connections between the two (9). The researchers’ initial hypothesis was that genetic mutations responsible for certain Mendelian disorders may predispose to the development of cancer. They found that genes associated with melanoma (MC1R and TYR), for instance, are also mutated in patients with oculocutaneous albinism, a Mendelian recessive disorder in which patients lack pigment in their skin, hair or eyes (10). Identifying cancer-driving genes that are found in Mendelian disorders enables scientists to understand the genetic basis of cancer development as well as various clinical presentations in cancer patients.

Although Mendel’s legacy has undoubtedly shaped our present understanding of inheritance, his discoveries alone cannot fully encapsulate the science behind complex diseases. The study of Mendelian disorders has given scientists a strong grounding for further research using advanced technologies such as whole genome sequencing and genome-wide association studies (11, 12), enhancing our knowledge of the genetic mechanisms and pathogenesis underlying polygenic diseases which would have been impossible in the 19th century.

Molnar, Charles. Concepts Of Biology – 1st Canadian Edition. 1st ed., 2019, pp. Chapter 8.1.
Chial, Heidi. “Gregor Mendel And Single-Gene Disorders | Learn Science At Scitable”. Scitable By Nature Education, 2008, https://www.nature.com/scitable/topicpage/mendelian-genetics-patterns-of-inheritance-and-single-966/.
Miko, Ilona. “Gregor Mendel And The Principles Of Inheritance”. Scitable By Nature Education, 2008, https://p75fz1.nbcnews.top/scitable/topicpage/gregor-mendel-and-the-principles-of-inheritance-593.
Reid, Jeremy. “Rare Disease Research Helps Us Understand Medicine For All Diseases – On Biology”. Biomed Central, 2016, https://blogs.biomedcentral.com/on-biology/2016/02/26/rare-disease-research-helps-understand-medicine-diseases/.
Collins, Samuel et al. The Genetics Of Allergic Disease And Asthma. 4th ed., Elsevier, 2016, pp. 18-30, https://www.sciencedirect.com/science/article/pii/B9780323298759000033, Accessed 25 Feb 2022.
Beck, B. “Neuropeptide Y In Normal Eating And In Genetic And Dietary-Induced Obesity”. Philosophical Transactions Of The Royal Society B: Biological Sciences, vol 361, no. 1471, 2006, pp. 1159-1185. The Royal Society, https://doi.org/10.1098/rstb.2006.1855. Accessed 25 Feb 2022.
Chial, Heidi. “Human Genetic Disorders: Studying Single-Gene (Mendelian) Diseases | Learn Science At Scitable”. Nature.Com, 2008, https://www.nature.com/scitable/topicpage/rare-genetic-disorders-learning-about-genetic-disease-979/.
Craig, Johanna. “Complex Diseases: Research And Applications”. Nature.Com, 2008, https://www.nature.com/scitable/topicpage/complex-diseases-research-and-applications-748/#:~:text=To%20comprehend%20the%20intricacies%20of,passed%20from%20generation%20to%20generation.
Melamed, Rachel D. et al. “Genetic Similarity Between Cancers And Comorbid Mendelian Diseases Identifies Candidate Driver Genes”. Nature Communications, vol 6, no. 1, 2015. Springer Science And Business Media LLC, https://doi.org/10.1038/ncomms8033. Accessed 26 Feb 2022.
“Oculocutaneous Albinism – NORD (National Organization For Rare Disorders)”. NORD (National Organization For Rare Disorders), https://rarediseases.org/rare-diseases/oculocutaneous-albinism/.
“Genome-Wide Association Studies Fact Sheet”. National Human Genome Research Institute, 2020, https://www.genome.gov/about-genomics/fact-sheets/Genome-Wide-Association-Studies-Fact-Sheet.
Benowitz, Steven. “Centers For Mendelian Genomics Uncovering The Genomic Basis Of Hundreds Of Rare Conditions”. National Human Genome Research Institute, 2015, https://www.genome.gov/news/news-release/Centers-for-Mendelian-Genomics-uncovering-the-genomic-basis-of-hundreds-of-rare-conditions.

Hannah Wilson Raphael House Rudolf Steiner School Lower Hutt, New Zealand Teacher: Ms. Sarah McKenzie

From his study of pea plants, Gregor Mendel developed three fundamental principles of inheritance: the principle of uniformity, the principle of segregation, and the principle of independent assortment (1). All monogenic traits follow these principles and are thus called Mendelian traits (1,2). Therefore, Mendel’s principles can be used to study Mendelian diseases, notably through pedigree analysis (1,2). The study of Mendelian diseases can in turn provide valuable insight into complex (non-Mendelian) diseases due to genetic correlations between Mendelian and complex diseases (3-6).

Mendel’s principles enable us to both decipher the past inheritance and predict the future inheritance of Mendelian diseases through pedigree analysis. Pedigree charts are diagrams based on Mendel’s principles that visually represent a family’s inheritance history of a Mendelian trait (1,2). Analysis of pedigree charts reveals whether the allele responsible is dominant or recessive, autosomal or sex-linked, due to the specific inheritance pattern exhibited by each allele type (2). Autosomal recessive diseases such as phenylketonuria (PKU) and sickle cell anemia can skip generations because two heterozygous (carrier) parents can give rise to progeny with either the affected or wild-type phenotype (2). Autosomal dominant diseases never skip generations unless random mutation occurs (2). Conversely, sex-linked Mendelian diseases display unique inheritance patterns depending on whether the disease is X-linked or Y-linked, dominant or recessive (2).

Pedigree analysis is applied in genetic counselling (7). Genetic counsellors presented with the family history of two individuals can predict the probability of each possible genotype and phenotype occurring in future offspring (7). These probabilities equip individuals with the information they need to make an informed reproductive decision. Furthermore, the simplicity of Mendel’s principles makes them accessible to the general public, better enabling individuals to understand the nature of their or their loved one’s disease. Nowadays, fetuses can be screened for common genetic defects during pregnancy, however, pedigree analysis maintains its value in that it can provide preliminary information before conception (8).

Although Mendel’s principles form the foundation of inheritance, most human diseases are complex, meaning they violate Mendel’s principles of inheritance (3). Examples of complex diseases include schizophrenia, hypertension, multiple sclerosis, and Alzheimer’s disease (3). Complex diseases are polygenic, meaning they are influenced by multiple genes, and are subject to environmental influence (3). Some also exhibit pleiotropy and epistatic interactions (9,10). Thus, unlike Mendelian diseases, complex diseases lack distinct inheritance patterns (3,4). This poses a challenge to geneticists when attempting to predict an individual’s risk of developing a complex disease.

In addition, there is now evidence that Mendelian and complex diseases are more interconnected than scientists formerly believed (11). For example, cystic fibrosis, typically categorized as an autosomal recessive Mendelian disease, is now believed to involve multiple loci (5,6). A mutation in the CTFR gene, which codes for a membrane channel protein for chlorine ions, forms the primary genetic basis for cystic fibrosis (6,12). However, variation in the severity of cystic fibrosis has been linked to potential modifier genes separate from the CTFR gene (5,6). As eukaryotic gene expression involves transcription factors as well as the structural gene(s) underlying a trait, it is highly likely that other Mendelian diseases also have complex aspects (13).

The study of Mendelian diseases can directly inform the study of complex diseases when a Mendelian disease acts as a model for a complex disease. Such is the case for Van der Woude syndrome, a rare autosomal dominant Mendelian disorder caused by mutations in the IRF6 gene (3,14). Symptoms of Van der Woude syndrome include cleft lip, a birth defect where the tissue in the lip does not join up completely before birth (3,14). Statistical studies provide evidence that one of the genes responsible for isolated cleft lip, a complex disorder, is IRF6, the same gene underlying Van der Woude syndrome (3). The discovery of links between other phenotypically similar Mendelian and complex diseases would be highly beneficial when considering that complex diseases are simultaneously challenging to study in isolation and highly prevalent in the general population (3,4).

Mendel’s abstract but fundamental principles of inheritance have paved the way for modern genetics. These principles directly enable both scientists and the general public to comprehend the inheritance of Mendelian diseases (1). The study of Mendelian diseases can also inform our understanding of complex diseases, especially in cases where a complex disease shares an element of its genetic basis with a Mendelian disease (ref). Therefore, despite their rarity, humankind as a whole is certain to benefit from the continued study of Mendelian diseases.

Miko, I. (2008). Gregor Mendel and the Principles of Inheritance. Nature Education. https://www.nature.com/scitable/topicpage/gregor-mendel-and-the-principles-of-inheritance-593/
Chial, H. (2008). Mendelian Genetics: Patterns of Inheritance and Single-Gene Disorders. Nature Education. https://www.nature.com/scitable/topicpage/mendelian-genetics-patterns-of-inheritance-and-single-966/
Craig, J. (2008). Complex Diseases: Research and Applications. Nature Education. https://www.nature.com/scitable/topicpage/complex-diseases-research-and-applications-748/
MedlinePlus. (2021, May 14). What are complex or multifactorial disorders? https://medlineplus.gov/genetics/understanding/mutationsanddisorders/complexdisorders
O’Neal, W. K., & Knowles, M. R. (2018). Cystic Fibrosis Disease Modifiers: Complex Genetics Defines the Phenotypic Diversity in a Monogenic Disease. Annual review of genomics and human genetics, 19, 201–222. https://doi.org/10.1146/annurev-genom-083117-021329
Buschman, H. (2019, December 10). Modifier Gene May Explain Why Some with Cystic Fibrosis are Less Prone to Infection. UC San Diego Health. https://health.ucsd.edu/news/releases/Pages/2019-12-10-modifier-gene-may-explain-why-some-with-cystic-fibrosis-less-prone-to-infection.aspx
NBIAcure. (2014). Genetic Counselling. http://nbiacure.org/learn/genetic-counseling/
MedlinePlus. (2021, September 29). Prenatal Testing. https://medlineplus.gov/prenataltesting.html
Nagel R. L. (2005). Epistasis and the genetics of human diseases. Comptes rendus biologies, 328(7), 606–615. https://doi.org/10.1016/j.crvi.2005.05.003
Gratten, J. & Visscher, P.M. (2016). Genetic pleiotropy in complex traits and diseases: implications for genomic medicine. Genome Med 8, 78. https://doi.org/10.1186/s13073-016-0332-x
Jin, W et al. (2012, April 1). A systematic characterization of genes underlying both complex and Mendelian diseases. Human Molecular Genetics, Volume 21, Issue 7, Pages 1611–1624. https://doi.org/10.1093/hmg/ddr599
MedlinePlus. (2021, July 6). Cystic Fibrosis. https://medlineplus.gov/genetics/condition/cystic-fibrosis/#causes
Urry, Meyers, N., Cain, M. L., Wasserman, S. A., Minorsky, P. V., & Reece, J. B. (2018). Campbell Biology: Australian and New Zealand Version (11th edition. Australian and New Zealand version.). Pearson Australia.
Children’s Hospital of Philadelphia. (2022). Van der Woude Syndrome. https://www.chop.edu/conditions-diseases/van-der-woude-syndrome

Emma Youngblood St. John Paul the Great Catholic High School Dumfries, Virginia Teacher: Dr. Clare Kuisell

“I am convinced that it will not be long before the whole world acknowledges the results of my work.” Gregor Mendel published the results of his pea plant experiments in 1865, but it wasn’t until the 1900s that people began to rediscover his work, and even then, it was controversial (Williams & Rudge, 2015). Now, nearly 200 years later, he is known as the father of the science of genetics, and students throughout the world learn about the laws of segregation and independent assortment which originated from Mendel’s observations. Mendel’s discoveries allow us to understand Mendelian disorders because they have been used to identify patterns of inheritance, which can be applied to genes that are known to have influence in complex diseases.

Single gene diseases are often referred to as Mendelian diseases–or disorders–and may be inherited in one of several patterns (Genetic Alliance, 2010). An example of such a disease is Marfan syndrome. With an incidence of approximately 1 in 5000 individuals, Marfan syndrome is an autosomal dominant disease that affects the body’s connective tissue (Coelho & Almeida, 2020). Using Mendel’s law of dominance and uniformity, which differentiates dominant and recessive alleles (Lewis & Simpson, 2021), one can predict the inheritance pattern of Marfan syndrome using the same calculations and ratios Mendel discovered in his pea plants. Because the mutated allele of the gene is dominant, a child who inherits Marfan syndrome must have a parent who also has it. This also means that Marfan syndrome, like other autosomal dominant diseases, would occur in every generation until the dominant allele is not inherited from either the mother or the father. Mendel’s work has allowed the identification of different types of inheritance patterns of single gene disorders to be very simple.

Complex diseases, while much less predictable than Mendelian disorders, are still influenced by genetics. Almost all complex diseases are affected by multiple genes and environmental factors, and examples include heart disease, cancer, and diabetes (National Human Genome Research Institute, 2013). Another well-known complex disease is Alzheimer’s Diseases (AD). Approximately 44 million people currently live with AD, and that number is expected to triple by 2050 (Lane et al., 2018). Aside from age, one of the highest risk factors for AD is the presence of the ε4 allele of the gene that codes for apolipoprotein E, also called ApoE (Yin & Wang, 2018). Recent studies have also shown that two of the most reliable biomarkers for AD are Aβ protein deposits and phosphorylated tau proteins (Mantzavinos & Alexiou, 2017). By studying the genes that code for these proteins and the gene that codes for, scientists may be able to identify a better way to treat or even cure AD. The multiple factors that affect complex diseases make it nearly impossible to determine exact patterns of inheritance, but if single genes that influence them can be isolated, the same patterns used to predict inheritance patterns in Mendelian disorders can be used to predict a high or low likelihood of developing or inheriting a complex disease.

Mendel’s discoveries have been essential in determining the inheritance patterns of Mendelian disorders, which can also be used to form a more accurate prediction of the inheritance of complex diseases. Interest in genetics-related careers is rapidly growing; the U.S. Bureau of Labor Statistics shows a job outlook of 26% from 2020 to 2030. This compares to the outlook of 14% for other healthcare occupations and 8% for all occupations (2021). Increased interest in the field of genetics may lead to new ways of applying the discoveries Mendel made nearly 200 years ago to solve modern questions and problems. It might have taken longer for the world to acknowledge the results of his work than he believed it would, but there is no doubt that once it did, Gregor Mendel’s work opened a realm of new scientific possibilities that will certainly endure for 200 years more.

Boyle, E. A., Li, Y. I., & Pritchard, J. K. (2017). An Expanded View of Complex Traits: From Polygenic to Omnigenic. Cell, 169(7), 1177–1186. https://doi.org/10.1016/j.cell.2017.05.038 Coelho, S. G., & Almeida, A. G. (2020). Marfan syndrome revisited: From genetics to the clinic. Síndrome de Marfan revisitada – da genética à clínica. Revista portuguesa de cardiologia, 39(4), 215–226. https://doi.org/10.1016/j.repc.2019.09.008 Genetic Alliance. (2010, February 17). Classic Mendelian Genetics (Patterns of Inheritance). Understanding Genetics: A District of Columbia Guide for Patients and Health Professionals. Retrieved January 20, 2022, from https://www.ncbi.nlm.nih.gov/books/NBK132145/ Lane, C. A., Hardy, J., & Schott, J. M. (2018). Alzheimer’s disease. European journal of neurology, 25(1), 59–70. https://doi.org/10.1111/ene.13439 Lewis, R. G., & Simpson, B. (2021). Genetics, Autosomal Dominant. In StatPearls. StatPearls Publishing. Mantzavinos, V., & Alexiou, A. (2017). Biomarkers for Alzheimer’s Disease Diagnosis. Current Alzheimer research, 14(11), 1149–1154. https://doi.org/10.2174/1567205014666170203125942 National Human Genome Research Institute. (2013, May 3). Genetic Analysis Tools Help Define Nature and Nurture in Complex Disorders. Genome.gov. Retrieved January 20, 2022, from https://www.genome.gov/10000865/complex-disorders-background U.S. Bureau of Labor Statistics. (2021, September 8). Genetic counselors : Occupational outlook handbook. U.S. Bureau of Labor Statistics. Retrieved January 21, 2022, from https://www.bls.gov/ooh/healthcare/genetic-counselors.htm Williams, C. T., & Rudge, D. W. (2015). Mendel and the Nature of Science. The American Biology Teacher, 77(7), 492–499. https://doi.org/10.1525/abt.2015.77.7.3 Yin, Y., & Wang, Z. (2018). ApoE and Neurodegenerative Diseases in Aging. Advances in experimental medicine and biology, 1086, 77–92. https://doi.org/10.1007/978-981-13-1117-8_5

Vivian Yuan Ridgewood High School Ridgewood, New Jersey Teacher: Mr. Ryan Van Treuren

Complex Diseases Through the Lens of Mendelian Genetics

In 2001, the Human Genome Project reported that the human genome contains 20,000 to 25,000 protein-coding genes (1, 2). Among those genes, less than 10% are related to single gene diseases, also known as monogenic or Mendelian disorders (2). With the recent advances of genome-wide association studies (GWAS) and single nucleotide polymorphism (SNP) sequencing approaches, interest in human genetics has shifted from rare Mendelian disorders to more common complex diseases, which involve both genetic components and environmental factors (2, 3, 4). Although Mendelian disorders affect a small portion of the population, studying them has contributed greatly to our understanding of genetic mutations and the risk factors underlying the aetiology of complex diseases.

The foundation of all modern human genetic studies relies upon Gregor Mendel’s study with pea plants. Through his experiments, Mendel discovered three laws: the law of dominance, the law of segregation, and the law of independent assortment (5, 6). Mendelian laws aptly dictate Mendelian disorders, which allows scientists to better determine the inheritance pattern of diseases. Disease inheritance genes can be classified as autosomal or sex linked, dominant or recessive. Huntington’s disease, a progressive neurodegenerative disorder, is an example of autosomal dominant Mendelian disorder, because only one copy of the defective gene from one parent is needed for disease manifestation. Conversely, phenylketonuria (PKU), which causes the accumulation of the amino acid phenylalanine, is an autosomal recessive disease. Both parents must give the defective gene to the child for the disease to appear. If only one parent carries the mutated gene, the child will not be affected, but they could still be a carrier of the mutated gene. Luckily, doctors are now able to predict the genotype and phenotype of an individual using pedigree analysis. Now, PKU could be confirmed within three days after birth, and PKU babies will be switched to a low protein and phenylalanine diet, preventing cognitive abnormality.

Although complex diseases do not follow Mendelian inheritance, the mechanisms learned from Mendelian diseases can help scientists understand complex diseases (2). Initially, cystic fibrosis was characterized as an autosomal recessive monogenic disease because of the mutations in the Cystic Fibrosis Trans-membrane conductance Regulator (CFTR) gene. However, recent studies showed that not all CFTR mutations produce the same disease, and disease severity is associated with modifier genes (7, 8). The interactions between modifier genes and different CFTR mutations heavily affect the phenotypic complexity and expressivity of CFTR genes. Due to the discovery of these modifier genes, cystic fibrosis is now classified as an oligogenic disease, involving a few genes. In a study of several families with epilepsy, multiple members carrying the same SCN1A gene mutations showed varying phenotypes and disease severity. Like the case in cystic fibrosis, modifier genes were also identified in epilepsy. While they may not be pathogenic, those genes still account for the variability in SCN1A-related phenotype (9).

In addition, study of Mendelian diseases can provide useful information about individual gene’s contribution to the phenotypes in complex diseases. When comparing two databases, Online Mendelian Inheritance in Man database (OMIM) and Genetic Association database (GAD), scientists found that among the 968 Mendelian genes identified, 524 genes are also genetic risk factors for complex diseases (3); hence, those genes are called complex-Mendelian genes (CM genes). CM genes were found to have higher allelic Odds Ratios (ORs) than genes associated only with complex disease, suggesting that CM genes have stronger effects on the complex phenotypes they affect (10).

Furthermore, some complex diseases, such as breast cancer and hypertension, have Mendelian subtypes that clearly display the inheritance patterns typical of monogenic diseases. Hereditary breast cancer, accounting for 5%-10% of all breast cancer, is mainly caused by a mutation in BRCA1 and BRCA2 genes (11). The inheritance of BRCA1 and BRCA2 follows an autosomal dominant pattern, and carriers of those two genes are at higher risk of developing other cancers, especially ovarian cancer. Similarly, scientists have found that some types of hypertension, called monogenic hypertension, are caused by distinct genetic mutations resulting in gain-of-function or loss-of-function in the mineralocorticoid, glucocorticoid, or sympathetic pathways (12).

The knowledge gained from studying genetic inheritance is surely invaluable to understanding diseases and finding treatments. Future applications of these basic principles laid out by Mendel over 150 years ago will lead doctors to predict disease manifestation and severity, working towards prevention and early treatment for all diseases, simple or complex.

International Human Genome Sequencing Consortium (2004) Finishing the Euchromatic Sequence of the Human Genome. Nature 431: 931-945
Antonarakis S.E. and Beckman J.S. (2006) Mendelian disorders deserve more attention. Nature Reviews Genetics 7: 277-282
Jin WF, Qin PF, Lou HY and Xu SF. (2012) A systematic characterization of genes underlying both complex and Mendelian diseases. Human Molecular Genetics 21 (7): 1611-1624
Craig J. (2018) Complex Diseases: Research and Applications. Nature Education 1 (1): 184 https://www.nature.com/scitable/topicpage/complex-diseases-research-and-applications-748/
Miko I. (2008) Gregor Mendel and the Principles of Inheritance. Nature Education 1 (1): 134. https://www.nature.com/scitable/topicpage/gregor-mendel-and-the-principles-of-inheritance-593/
Chial H. (2008) Mendelian Genetics: Patterns of Inheritance and Single-Gene Disorders. Nature Education 1 (1): 63. https://www.nature.com/scitable/topicpage/mendelian-genetics-patterns-of-inheritance-and-single-966/
Buratti E., Brindisi A., Pagani,F. & Baralle F. E. Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance. Am. J. Hum. Genet. 74, 1322–1325 (2004).
O’Neal W.K. and Knowles M.R. Cystic Fibrosis Disease Modifiers: Complex Genetics Defines the Phenotypic Diversity in a Monogenic Disease. Annu. Rev. Genom. Hum. Genet. 2018. 19:201–22
de Lange I.M., Mulder F., Slot R, et al (2020). Modifier genes in SCN1A-related epilepsy syndromes. Mol Genet Genomic Med. 8: e1103
Spataro N., Rodriguez J., Navarro A., Bosch, E. (2017) Properties of Human Disease Genes and the Role of Genes Linked to Mendelian Disorders in Complex Disease Aetiology. Human Molecular Genetics 26 (3): 489-500
Mehrgou A. and Akouchekian M. (2016) The Importance of BRCA1 and BRCA2 gene mutations in breast cancer development. Med J Islam Repub Iran 30: 369
Raina R, Krishnappa V, Das A, et al (2019) Overview of Monogenic or Mendelian forms of Hypertension. Frontiers in Pediatrics 7: 263

Xinyi Zhang South Brunswick High School Monmouth Junction, New Jersey Teacher: Ms. Jessica Pagone

Genetic mutations lend each person their individuality, but certain variations can cause adverse health effects. Mendelian, or monogenic, disorders arise from variations in just one of the over 4,000 protein-coding genes that are currently associated with these diseases (2). Using Mendel’s principles to trace the inheritance pattern and phenotypes of a specific genetic mutation forms the basis of studying monogenic disorders. In turn, these findings can elucidate the role of various genetic mutations in diseases with more complex causes (8).

Gregor Mendel’s laws of genetic inheritance establish the framework for Mendelian patterns of inheritance. Given that each parent provides an allele for every gene in their offspring, if one parent has a genetic mutation that may cause a certain monogenic disorder, their offspring may inherit the mutant allele (5). Whether the child will develop the disorder or be a carrier depends on the dominance of the alleles they inherit (11).

Coupling Mendel’s principles with pedigree analysis reveal predictable modes of inheritance that bring light to the genetic nature of Mendelian diseases (5). Consider, for example, the realization of the inheritance pattern of sickle cell disease (SCD). Both parents need to have at least one mutant allele in the hemoglobin beta (HBB) gene to produce offspring with SCD (6). However, if their offspring only has one mutant allele, they will not be afflicted with SCD (6). With these observations, scientists determined that SCD is an autosomal recessive disorder in which it could only develop in people with two mutant alleles of the HBB gene (11). The inheritance pattern of a Mendelian disease would be different in an autosomal dominant disorder, where one mutant allele is enough to cause the disease, or in a sex-linked disorder, where diseases are inherited through the X or Y chromosome (11). Using Mendel’s principles to identify Mendelian inheritance patterns often serves as the first step in assessing disease risk and pinpointing the responsible genotype.

In actuality, Mendelian disorders are much rarer than complex disorders, which are distinguished from monogenic conditions because many genes, environmental interactions, and lifestyle choices all contribute to disease development (8). These variables complicate the determination of inheritance patterns or causative factors of a complex disease.

Despite their inherent differences, some connections have been uncovered between Mendelian and complex diseases. Many monogenic diseases are comorbid with complex ones (4). Furthermore, over 20% of the gene variations that cause Mendelian disorders have been implicated in at least one complex disorder (8). For instance, mutations in the IRF6 gene can lead to Van der Woude syndrome, a rare Mendelian disorder that causes cleft lip, cleft palate, and other facial deformities (10). Intriguingly, IRF6 mutations have also been implicated in complex, isolated forms of cleft lip and palate (12). These overlaps highlight the importance of utilizing Mendelian diseases to understand complex disease etiology.

Techniques such as whole-exome sequencing can link the characteristics of a Mendelian disease with the mutant gene that causes them (9). These findings are recorded in the Online Mendelian Inheritance in Man (OMIM), an accessible catalog of thousands of genotype-phenotype links for monogenic disorders (3). Studying this data has led to the identification of mutations and pathways that play a role in producing similar phenotypes in complex diseases (3,4). To better understand the complexity of essential hypertension, researchers studied many Mendelian disorders that are associated with high blood pressure, such as Liddle’s syndrome (7). Many of these disorders are caused by genetic mutations that alter proteins involved in renal salt balance (7). These studies brought attention to the importance of the kidneys and adrenal glands in regulating blood pressure and revealed the genetic mutations that may be associated with essential hypertension (7). Better knowledge of the molecular pathways behind essential hypertension has opened up new targets in drug development, such as ROMK, a renal potassium channel that is altered by a monogenic disorder known as Bartter syndrome type II (1).

Overall, while insights gleaned from studying Mendelian disorders cannot account for the environmental or lifestyle risks that contribute to complex diseases, they can guide research on pinpointing the pathophysiological processes and susceptibility alleles that bring about complex disorders. Thus, despite the rarity of Mendelian disorders, research on them should not be undercut to prioritize the study of prevalent complex diseases. A more comprehensive understanding of Mendelian disorders allows for more efficient risk assessment, prevention measures, and diagnoses for Mendelian and complex diseases alike, rendering it a valuable tool that should be further explored in the field of medical genetics.

Abdel-Magid, A. F. (2016, November 22). Potential of renal outer medullary potassium (ROMK) channel as treatments for hypertension and heart failure. American Chemical Society. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5238487/
Antonarakis, S. E. (2021, June 23). History of the methodology of disease gene identification … Wiley Online Library. Retrieved from https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62400
Brownlee, C. (n.d.). OMIM turns 50: A genetic database’s past, present, and future. Johns Hopkins Medicine. Retrieved from https://www.hopkinsmedicine.org/research/advancements-in-research/fundamentals/in-depth/omim-turns-50-a-genetic-databases-past-present-and-future
Kumar Freund, M. (2018, October 4). Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits. Cell. Retrieved from https://www.cell.com/ajhg/fulltext/S0002-9297(18)30285-4
Lewis, R. G. (2021, May 7). Genetics, autosomal dominant. StatPearls [Internet]. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK557512/
Mangla, A. (2021, December 19). Sickle cell anemia. StatPearls [Internet]. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK482164/
Seidel, E., Scholl, U. I. (2017, November 1). Genetic mechanisms of human hypertension and their implications for blood pressure physiology. Physiological Genomics. Retrieved from https://journals.physiology.org/doi/full/10.1152/physiolgenomics.00032.2017
Spataro, N., Rodríguez, J. A., Navarro, A., & Bosch, E. (2017, February 1). Properties of human disease genes and the role of genes linked to mendelian disorders in complex disease aetiology. Human molecular genetics. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409085/
Suwinski, P., Ong, C. K., Ling, M. H. T., Poh, Y. M., Khan, A. M., & Ong, H. S. (2019, February 12). Advancing personalized medicine through the application of whole exome sequencing and Big Data Analytics. Frontiers. Retrieved from https://www.frontiersin.org/articles/10.3389/fgene.2019.00049/full
U.S. National Library of Medicine. (2020, August 18). Van der Woude Syndrome: Medlineplus Genetics. MedlinePlus. Retrieved from https://medlineplus.gov/genetics/condition/van-der-woude-syndrome/
11. U.S. National Library of Medicine. (2021, April 19). What are the different ways a genetic condition can be inherited?: Medlineplus Genetics. MedlinePlus. Retrieved from https://medlineplus.gov/genetics/understanding/inheritance/inheritancepatterns/
Zhao, H., Zhang, M., Zhong, W., Zhang, J., Huang, W., Zhang, Y., Li, W., Jia, P., Zhang, T., Liu, Z., Lin, J., & Chen, F. (2018, July 20). A novel IRF6 mutation causing non-syndromic cleft lip with or without cleft palate in a pedigree. OUP Academic. Retrieved from https://academic.oup.com/mutage/article/33/3/195/5056500

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"Half of your DNA is determined by your mother's side, and half is by your father. So, if you seem to look exactly like your mother, perhaps some DNA that codes for your body and how your organs run was copied from your father's genes ."

So close, yet so far. This quote, taken from a high school student's submission in a national essay contest, represents just one of countless misconceptions many people have about the basic nature of heredity and how our bodies read the instructions stored in our genetic material (Shaw et al . 2008). Although it is true that half of our genome is inherited from our mother and half from our father, it is certainly not the case that only some of our cells receive instructions from only some of our DNA. Rather, every diploid, nucleated cell in our body contains a full complement of chromosomes, and our specific cellular phenotypes are the result of complex patterns of gene expression and regulation . In fact, it is through this dynamic regulation of gene expression that organismal complexity is determined. For example, when the first draft of the human genome was published in 2003, scientists were surprised to find that sequence analysis revealed only around 25,000 genes, instead of the 50,000 to 100,000 genes originally hypothesized. Clues from studies examining the genomic structure of a variety of organisms suggest that much of human uniqueness lies not in our number of genes, but instead in our regulatory control over when and where certain genes are expressed. Additional examination of different organisms has revealed that all genomes are more complex and dynamic than previously thought. Thus, the central dogma proposed by Francis Crick as early as 1958 — that DNA encodes RNA, which is translated into protein — is now considered overly simplistic. Today, scientists know that beyond the three types of RNA that make the central dogma possible (mRNA, tRNA, and rRNA), there are many additional varieties of functional RNA within cells, many of which serve a number of known (and unknown) functions, including regulation of gene expression. Understanding how the structure of these and other nucleic acids belies their function at both the macroscopic and microscopic levels, and discovering how that understanding can be manipulated, is the essence of where genetics and molecular biology converge. Detailed comparative analysis of different organisms' genomes has also shed light on the genetics of evolutionary history . Using molecular approaches, information about mutation rates, and other tools, scientists continue to add more detail to phylogenetic trees, which tell us about the relationships between the marvelous variety of organisms that have existed throughout the planet's history. Examining how different processes shape populations through the culling or maintenance of deleterious or beneficial alleles lies at the heart of the field of population genetics . Within a population, beneficial alleles are typically maintained through positive natural selection, while alleles that compromise fitness are often removed via negative selection. Some detrimental alleles may remain, however, and a number of these alleles are associated with disease. Many common human diseases , such as asthma, cardiovascular disease, and various forms of cancer, are complex-in other words, they arise from the interaction between multiple alleles at different genetic loci with cues from the environment. Other diseases, which are significantly less prevalent, are inherited. For instance, phenylketonuria (PKU) was the first disease shown to have a recessive pattern of inheritance. Other conditions, like Huntington's disease, are associated with dominant alleles, while still other disorders are sex-linked-a concept that was first identified through studies involving mutations in the common fruit fly. Still other diseases, like Down syndrome, are linked to chromosomal aberrations that can be identified through cytogenetic techniques that examine chromosome structure and number . Our understanding in all these fields has blossomed in recent years. Thanks to the merger of molecular biology techniques with improved knowledge of genetics, scientists are now able to create transgenic organisms that have specific characters, test embryos for a variety of traits in vitro , and develop all manner of diagnostic tests capable of identifying individuals at risk for particular disorders. This interplay between genetics and society makes it crucial for all of us to grasp the science behind these techniques in order to better inform our decisions at the doctor, at the grocery store, and at home. As we seek to cultivate this understanding of modern genetics, it is critical to remember that the misconceptions expressed in the aforementioned essay are the same ones that many individuals carry with them. Thus, when working together, faculty and students need to explore not only what we know about genetics, but also what data and evidence support these claims. Only when we are equipped with the ability to reach our own conclusions will our misconceptions be altered.

-Kenna Shaw, Ph.D

Image: Mehau Kulyk/Science Photo Library/Getty Images.

Shaw, K. (2008) Genetics. Nature Education 2(10):1

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The Case for Marrying an Older Man

A woman’s life is all work and little rest. An age gap relationship can help.

In the summer, in the south of France, my husband and I like to play, rather badly, the lottery. We take long, scorching walks to the village — gratuitous beauty, gratuitous heat — kicking up dust and languid debates over how we’d spend such an influx. I purchase scratch-offs, jackpot tickets, scraping the former with euro coins in restaurants too fine for that. I never cash them in, nor do I check the winning numbers. For I already won something like the lotto, with its gifts and its curses, when he married me.

He is ten years older than I am. I chose him on purpose, not by chance. As far as life decisions go, on balance, I recommend it.

When I was 20 and a junior at Harvard College, a series of great ironies began to mock me. I could study all I wanted, prove myself as exceptional as I liked, and still my fiercest advantage remained so universal it deflated my other plans. My youth. The newness of my face and body. Compellingly effortless; cruelly fleeting. I shared it with the average, idle young woman shrugging down the street. The thought, when it descended on me, jolted my perspective, the way a falling leaf can make you look up: I could diligently craft an ideal existence, over years and years of sleepless nights and industry. Or I could just marry it early.

So naturally I began to lug a heavy suitcase of books each Saturday to the Harvard Business School to work on my Nabokov paper. In one cavernous, well-appointed room sat approximately 50 of the planet’s most suitable bachelors. I had high breasts, most of my eggs, plausible deniability when it came to purity, a flush ponytail, a pep in my step that had yet to run out. Apologies to Progress, but older men still desired those things.

I could not understand why my female classmates did not join me, given their intelligence. Each time I reconsidered the project, it struck me as more reasonable. Why ignore our youth when it amounted to a superpower? Why assume the burdens of womanhood, its too-quick-to-vanish upper hand, but not its brief benefits at least? Perhaps it came easier to avoid the topic wholesale than to accept that women really do have a tragically short window of power, and reason enough to take advantage of that fact while they can. As for me, I liked history, Victorian novels, knew of imminent female pitfalls from all the books I’d read: vampiric boyfriends; labor, at the office and in the hospital, expected simultaneously; a decline in status as we aged, like a looming eclipse. I’d have disliked being called calculating, but I had, like all women, a calculator in my head. I thought it silly to ignore its answers when they pointed to an unfairness for which we really ought to have been preparing.

I was competitive by nature, an English-literature student with all the corresponding major ambitions and minor prospects (Great American novel; email job). A little Bovarist , frantic for new places and ideas; to travel here, to travel there, to be in the room where things happened. I resented the callow boys in my class, who lusted after a particular, socially sanctioned type on campus: thin and sexless, emotionally detached and socially connected, the opposite of me. Restless one Saturday night, I slipped on a red dress and snuck into a graduate-school event, coiling an HDMI cord around my wrist as proof of some technical duty. I danced. I drank for free, until one of the organizers asked me to leave. I called and climbed into an Uber. Then I promptly climbed out of it. For there he was, emerging from the revolving doors. Brown eyes, curved lips, immaculate jacket. I went to him, asked him for a cigarette. A date, days later. A second one, where I discovered he was a person, potentially my favorite kind: funny, clear-eyed, brilliant, on intimate terms with the universe.

I used to love men like men love women — that is, not very well, and with a hunger driven only by my own inadequacies. Not him. In those early days, I spoke fondly of my family, stocked the fridge with his favorite pasta, folded his clothes more neatly than I ever have since. I wrote his mother a thank-you note for hosting me in his native France, something befitting a daughter-in-law. It worked; I meant it. After graduation and my fellowship at Oxford, I stayed in Europe for his career and married him at 23.

Of course I just fell in love. Romances have a setting; I had only intervened to place myself well. Mainly, I spotted the precise trouble of being a woman ahead of time, tried to surf it instead of letting it drown me on principle. I had grown bored of discussions of fair and unfair, equal or unequal , and preferred instead to consider a thing called ease.

The reception of a particular age-gap relationship depends on its obviousness. The greater and more visible the difference in years and status between a man and a woman, the more it strikes others as transactional. Transactional thinking in relationships is both as American as it gets and the least kosher subject in the American romantic lexicon. When a 50-year-old man and a 25-year-old woman walk down the street, the questions form themselves inside of you; they make you feel cynical and obscene: How good of a deal is that? Which party is getting the better one? Would I take it? He is older. Income rises with age, so we assume he has money, at least relative to her; at minimum, more connections and experience. She has supple skin. Energy. Sex. Maybe she gets a Birkin. Maybe he gets a baby long after his prime. The sight of their entwined hands throws a lucid light on the calculations each of us makes, in love, to varying degrees of denial. You could get married in the most romantic place in the world, like I did, and you would still have to sign a contract.

Twenty and 30 is not like 30 and 40; some freshness to my features back then, some clumsiness in my bearing, warped our decade, in the eyes of others, to an uncrossable gulf. Perhaps this explains the anger we felt directed at us at the start of our relationship. People seemed to take us very, very personally. I recall a hellish car ride with a friend of his who began to castigate me in the backseat, in tones so low that only I could hear him. He told me, You wanted a rich boyfriend. You chased and snuck into parties . He spared me the insult of gold digger, but he drew, with other words, the outline for it. Most offended were the single older women, my husband’s classmates. They discussed me in the bathroom at parties when I was in the stall. What does he see in her? What do they talk about? They were concerned about me. They wielded their concern like a bludgeon. They paraphrased without meaning to my favorite line from Nabokov’s Lolita : “You took advantage of my disadvantage,” suspecting me of some weakness he in turn mined. It did not disturb them, so much, to consider that all relationships were trades. The trouble was the trade I’d made struck them as a bad one.

The truth is you can fall in love with someone for all sorts of reasons, tiny transactions, pluses and minuses, whose sum is your affection for each other, your loyalty, your commitment. The way someone picks up your favorite croissant. Their habit of listening hard. What they do for you on your anniversary and your reciprocal gesture, wrapped thoughtfully. The serenity they inspire; your happiness, enlivening it. When someone says they feel unappreciated, what they really mean is you’re in debt to them.

When I think of same-age, same-stage relationships, what I tend to picture is a woman who is doing too much for too little.

I’m 27 now, and most women my age have “partners.” These days, girls become partners quite young. A partner is supposed to be a modern answer to the oppression of marriage, the terrible feeling of someone looming over you, head of a household to which you can only ever be the neck. Necks are vulnerable. The problem with a partner, however, is if you’re equal in all things, you compromise in all things. And men are too skilled at taking .

There is a boy out there who knows how to floss because my friend taught him. Now he kisses college girls with fresh breath. A boy married to my friend who doesn’t know how to pack his own suitcase. She “likes to do it for him.” A million boys who know how to touch a woman, who go to therapy because they were pushed, who learned fidelity, boundaries, decency, manners, to use a top sheet and act humanely beneath it, to call their mothers, match colors, bring flowers to a funeral and inhale, exhale in the face of rage, because some girl, some girl we know, some girl they probably don’t speak to and will never, ever credit, took the time to teach him. All while she was working, raising herself, clawing up the cliff-face of adulthood. Hauling him at her own expense.

I find a post on Reddit where five thousand men try to define “ a woman’s touch .” They describe raised flower beds, blankets, photographs of their loved ones, not hers, sprouting on the mantel overnight. Candles, coasters, side tables. Someone remembering to take lint out of the dryer. To give compliments. I wonder what these women are getting back. I imagine them like Cinderella’s mice, scurrying around, their sole proof of life their contributions to a more central character. On occasion I meet a nice couple, who grew up together. They know each other with a fraternalism tender and alien to me. But I think of all my friends who failed at this, were failed at this, and I think, No, absolutely not, too risky . Riskier, sometimes, than an age gap.

My younger brother is in his early 20s, handsome, successful, but in many ways: an endearing disaster. By his age, I had long since wisened up. He leaves his clothes in the dryer, takes out a single shirt, steams it for three minutes. His towel on the floor, for someone else to retrieve. His lovely, same-age girlfriend is aching to fix these tendencies, among others. She is capable beyond words. Statistically, they will not end up together. He moved into his first place recently, and she, the girlfriend, supplied him with a long, detailed list of things he needed for his apartment: sheets, towels, hangers, a colander, which made me laugh. She picked out his couch. I will bet you anything she will fix his laundry habits, and if so, they will impress the next girl. If they break up, she will never see that couch again, and he will forget its story. I tell her when I visit because I like her, though I get in trouble for it: You shouldn’t do so much for him, not for someone who is not stuck with you, not for any boy, not even for my wonderful brother.

Too much work had left my husband, by 30, jaded and uninspired. He’d burned out — but I could reenchant things. I danced at restaurants when they played a song I liked. I turned grocery shopping into an adventure, pleased by what I provided. Ambitious, hungry, he needed someone smart enough to sustain his interest, but flexible enough in her habits to build them around his hours. I could. I do: read myself occupied, make myself free, materialize beside him when he calls for me. In exchange, I left a lucrative but deadening spreadsheet job to write full-time, without having to live like a writer. I learned to cook, a little, and decorate, somewhat poorly. Mostly I get to read, to walk central London and Miami and think in delicious circles, to work hard, when necessary, for free, and write stories for far less than minimum wage when I tally all the hours I take to write them.

At 20, I had felt daunted by the project of becoming my ideal self, couldn’t imagine doing it in tandem with someone, two raw lumps of clay trying to mold one another and only sullying things worse. I’d go on dates with boys my age and leave with the impression they were telling me not about themselves but some person who didn’t exist yet and on whom I was meant to bet regardless. My husband struck me instead as so finished, formed. Analyzable for compatibility. He bore the traces of other women who’d improved him, small but crucial basics like use a coaster ; listen, don’t give advice. Young egos mellow into patience and generosity.

My husband isn’t my partner. He’s my mentor, my lover, and, only in certain contexts, my friend. I’ll never forget it, how he showed me around our first place like he was introducing me to myself: This is the wine you’ll drink, where you’ll keep your clothes, we vacation here, this is the other language we’ll speak, you’ll learn it, and I did. Adulthood seemed a series of exhausting obligations. But his logistics ran so smoothly that he simply tacked mine on. I moved into his flat, onto his level, drag and drop, cleaner thrice a week, bills automatic. By opting out of partnership in my 20s, I granted myself a kind of compartmentalized, liberating selfishness none of my friends have managed. I am the work in progress, the party we worry about, a surprising dominance. When I searched for my first job, at 21, we combined our efforts, for my sake. He had wisdom to impart, contacts with whom he arranged coffees; we spent an afternoon, laughing, drawing up earnest lists of my pros and cons (highly sociable; sloppy math). Meanwhile, I took calls from a dear friend who had a boyfriend her age. Both savagely ambitious, hyperclose and entwined in each other’s projects. If each was a start-up , the other was the first hire, an intense dedication I found riveting. Yet every time she called me, I hung up with the distinct feeling that too much was happening at the same time: both learning to please a boss; to forge more adult relationships with their families; to pay bills and taxes and hang prints on the wall. Neither had any advice to give and certainly no stability. I pictured a three-legged race, two people tied together and hobbling toward every milestone.

I don’t fool myself. My marriage has its cons. There are only so many times one can say “thank you” — for splendid scenes, fine dinners — before the phrase starts to grate. I live in an apartment whose rent he pays and that shapes the freedom with which I can ever be angry with him. He doesn’t have to hold it over my head. It just floats there, complicating usual shorthands to explain dissatisfaction like, You aren’t being supportive lately . It’s a Frenchism to say, “Take a decision,” and from time to time I joke: from whom? Occasionally I find myself in some fabulous country at some fabulous party and I think what a long way I have traveled, like a lucky cloud, and it is frightening to think of oneself as vapor.

Mostly I worry that if he ever betrayed me and I had to move on, I would survive, but would find in my humor, preferences, the way I make coffee or the bed nothing that he did not teach, change, mold, recompose, stamp with his initials, the way Renaissance painters hid in their paintings their faces among a crowd. I wonder if when they looked at their paintings, they saw their own faces first. But this is the wrong question, if our aim is happiness. Like the other question on which I’m expected to dwell: Who is in charge, the man who drives or the woman who put him there so she could enjoy herself? I sit in the car, in the painting it would have taken me a corporate job and 20 years to paint alone, and my concern over who has the upper hand becomes as distant as the horizon, the one he and I made so wide for me.

To be a woman is to race against the clock, in several ways, until there is nothing left to be but run ragged.

We try to put it off, but it will hit us at some point: that we live in a world in which our power has a different shape from that of men, a different distribution of advantage, ours a funnel and theirs an expanding cone. A woman at 20 rarely has to earn her welcome; a boy at 20 will be turned away at the door. A woman at 30 may find a younger woman has taken her seat; a man at 30 will have invited her. I think back to the women in the bathroom, my husband’s classmates. What was my relationship if not an inconvertible sign of this unfairness? What was I doing, in marrying older, if not endorsing it? I had taken advantage of their disadvantage. I had preempted my own. After all, principled women are meant to defy unfairness, to show some integrity or denial, not plan around it, like I had. These were driven women, successful, beautiful, capable. I merely possessed the one thing they had already lost. In getting ahead of the problem, had I pushed them down? If I hadn’t, would it really have made any difference?

When we decided we wanted to be equal to men, we got on men’s time. We worked when they worked, retired when they retired, had to squeeze pregnancy, children, menopause somewhere impossibly in the margins. I have a friend, in her late 20s, who wears a mood ring; these days it is often red, flickering in the air like a siren when she explains her predicament to me. She has raised her fair share of same-age boyfriends. She has put her head down, worked laboriously alongside them, too. At last she is beginning to reap the dividends, earning the income to finally enjoy herself. But it is now, exactly at this precipice of freedom and pleasure, that a time problem comes closing in. If she would like to have children before 35, she must begin her next profession, motherhood, rather soon, compromising inevitably her original one. The same-age partner, equally unsettled in his career, will take only the minimum time off, she guesses, or else pay some cost which will come back to bite her. Everything unfailingly does. If she freezes her eggs to buy time, the decision and its logistics will burden her singly — and perhaps it will not work. Overlay the years a woman is supposed to establish herself in her career and her fertility window and it’s a perfect, miserable circle. By midlife women report feeling invisible, undervalued; it is a telling cliché, that after all this, some husbands leave for a younger girl. So when is her time, exactly? For leisure, ease, liberty? There is no brand of feminism which achieved female rest. If women’s problem in the ’50s was a paralyzing malaise, now it is that they are too active, too capable, never permitted a vacation they didn’t plan. It’s not that our efforts to have it all were fated for failure. They simply weren’t imaginative enough.

For me, my relationship, with its age gap, has alleviated this rush , permitted me to massage the clock, shift its hands to my benefit. Very soon, we will decide to have children, and I don’t panic over last gasps of fun, because I took so many big breaths of it early: on the holidays of someone who had worked a decade longer than I had, in beautiful places when I was young and beautiful, a symmetry I recommend. If such a thing as maternal energy exists, mine was never depleted. I spent the last nearly seven years supported more than I support and I am still not as old as my husband was when he met me. When I have a child, I will expect more help from him than I would if he were younger, for what does professional tenure earn you if not the right to set more limits on work demands — or, if not, to secure some child care, at the very least? When I return to work after maternal upheaval, he will aid me, as he’s always had, with his ability to put himself aside, as younger men are rarely able.

Above all, the great gift of my marriage is flexibility. A chance to live my life before I become responsible for someone else’s — a lover’s, or a child’s. A chance to write. A chance at a destiny that doesn’t adhere rigidly to the routines and timelines of men, but lends itself instead to roomy accommodation, to the very fluidity Betty Friedan dreamed of in 1963 in The Feminine Mystique , but we’ve largely forgotten: some career or style of life that “permits year-to-year variation — a full-time paid job in one community, part-time in another, exercise of the professional skill in serious volunteer work or a period of study during pregnancy or early motherhood when a full-time job is not feasible.” Some things are just not feasible in our current structures. Somewhere along the way we stopped admitting that, and all we did was make women feel like personal failures. I dream of new structures, a world in which women have entry-level jobs in their 30s; alternate avenues for promotion; corporate ladders with balconies on which they can stand still, have a smoke, take a break, make a baby, enjoy themselves, before they keep climbing. Perhaps men long for this in their own way. Actually I am sure of that.

Once, when we first fell in love, I put my head in his lap on a long car ride; I remember his hands on my face, the sun, the twisting turns of a mountain road, surprising and not surprising us like our romance, and his voice, telling me that it was his biggest regret that I was so young, he feared he would lose me. Last week, we looked back at old photos and agreed we’d given each other our respective best years. Sometimes real equality is not so obvious, sometimes it takes turns, sometimes it takes almost a decade to reveal itself.

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Human Genetic Engineering: Key Principles and Issues Essay

Introduction.

Improving the quality and duration of human life are the key priorities of the world’s developed economies and countries. For more effective prevention, diagnosis, and treatment of socially significant diseases, along with the rehabilitation of patients, technological breakthroughs in the field of biomedicine are necessary. They are primarily associated with the creation of fundamentally new drugs, products for cell and gene therapy, and tools for precise molecular diagnostics. Human genetic engineering is one such method, formulating a significant breakthrough in the field of medicine. However, it is a controversial aspect in terms of ethical issues, as genetic changes can lead to unforeseen consequences. At the same time, it makes it possible to cure complex diseases or correct some problems for a person.

Genetic engineering is a recent breakthrough in humanity in the field of medicine, formulating one of the most complex processes. Genetic engineering technologies include the construction of functionally active genetic structures, their introduction into the human body, and integration into the genome (Wheale & Schomber, 2019). It allows one to develop new, in some cases, unique genetic, biochemical, and physiological properties. The creation of new biopharmaceuticals and cell cultures producing biologically active molecules in the future will provide the medical market with affordable, innovative drugs and diagnostic tools. However, there is a possibility that genetic engineering procedures will have a significant price, and only some people will be able to afford such treatment.

Point effects are required for the effective treatment of many diseases, primarily of an immune nature, sometimes at the level of individual cells. The creation of target-oriented drugs, including conjugated and DNA vaccines, will increase the effectiveness of treating oncological, rheumatic, and infectious diseases, as well as disorders of the nervous system (Wheale & Schomber, 2019). The first direction in the development of the trend is associated with the use of recombinant DNA to obtain biological products with desired therapeutic properties and high rates of bioavailability and specificity of action (Wheale & Schomber, 2019). As a result, new drugs will appear that are effective in diseases caused by immune system disorders. The creation of diagnostic biosensors formulates another direction for therapeutic cellular products, and specific molecular fragments obtained based on genetic engineering technologies. These solutions could increase the diagnostic value of portable tests being brought to the medical device market.

Implementing new genes into a microorganism, plant, animal, or human body opens new possibilities to gain new body characteristics. These treats have never been enjoyed by the object before and could promote better living or treatment. One can reorganize these genotypes by transforming DNA, a molecule that is responsible for transfer, custody, and pass from one breed to another descent, and execution of the genetic program for the evolving and performing of living entities (Wheale & Schomber, 2019). Moreover, transformations occur in ribonucleic acid, one of the key molecules in all living entities’ cells.

The key aspects of standard genetics were founded in the middle of the 19th century due to the tests of the Czech-Austrian scientist and biologist Gregor Mendel (Wheale & Schomber, 2019). The foundations of transferring of ancestral features from parental entities to their scions, outlined by him based on the experiments on plants in 1865, unfortunately, were not significantly popular among the cotemporaries (Wheale & Schomber, 2019). After several decades, the followers of this trend returned to focus on the aspect of genetic engineering, and the issue began to be studied more carefully. Therefore, nowadays, genetic engineering is applied in many areas, and on its basis, an independent area of healthcare area has been formed, which is one of the contemporary parts of biotechnology.

The medicines that are currently under clinical experiments are remedies that potentially can cure cardiovascular disease, arthrosis, AIDS, and oncology. Several hundred companies engaged in genetic design are promoting the manufacturing of medicines and diagnostics. Nowadays, human insulin obtained by means of retransmitted DNA is actively utilized by many healthcare providers. Human insulin-cloned genes were implemented into a bacterial cell (Wheale & Schomber, 2019). Since 1982, various companies in developed countries have been producing genetically designed insulin (Wheale & Schomber, 2019). In addition, many new diagnostic drugs have already been implemented into healthcare practice.

Despite the apparent positive effects of these discoveries and the possibility of improving the level of a cure for diseases and the quality of life of people, genetic engineering has other aspects. Speaking from an ethical point of view, it can have negative consequences as genetic changes can be used for devastating effects. Thus, organizations have introduced various restrictions and moratoriums on experiments, introducing more humane principles. In addition, genetic engineering brings humanity closer to the possibility of cloning, which opens up many options. For example, one could grow a clone for later organ transplantation or use it as a donor. However, whether such a procedure is ethically acceptable remains an open question as opinions differ.

There are many options for the development of events in the field of genetic engineering, and not all of them have been studied. Therefore, they must be consistently fixed and regulated, as bad scenarios of the development of events cause most fears. As a rule, it all starts with helping people and inventing new drugs, and then a person may come to desire to change his child’s hair or eyes or to create an army of universal soldiers who are not afraid of pain and do not know fear. Modern society is so heterogeneous culturally and economically that any methods that can significantly change the genome can create conditions for class and species stratification (Wheale & Schomber, 2019). For example, representatives of the rich world will be able to significantly prolong their lives and not be afraid of any diseases, unlike less wealthy people, and this is a serious ground for conflicts and clashes.

However, many incurable diseases occur due to pathological changes in the cell genome. Traditional drugs are not effective enough in their treatment due to low specificity and, in some cases, significant toxic effects on the body. Moreover, they do not act on the very cause of such diseases, namely somatic mutations of the genome. It is expected that one will be able to target gene expression, interrupting the sequence of pathological changes in the cell (Wheale & Schomber, 2019). In addition, the person will be able to control the critical mechanisms of development, and treatment of oncological diseases will become possible with the help of technologies for the therapeutic use of RNA interference.

To conclude, human genetic engineering is one of the major medical breakthroughs, giving many opportunities for healing and improving life. Genetic engineering is a new direction in the field of molecular biology, which has become widespread in many areas of medicine and biology relatively recently. However, despite the positive effects, it has some controversial ethical aspects. Genetic engineering provides limitless opportunities for humans, including creating their own fearless army, which can be used for crimes. In addition, errors during surgery at the gene level can lead to irreversible negative consequences.

Wheale, P., & Schomberg, R. (2019). The social management of genetic engineering . Routledge.

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Origins of human genetics. A personal perspective

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