dna essay topics

163 DNA Essay Topic Ideas & Examples

🏆 best dna topic ideas & essay examples, 💡 most interesting dna argumentative essay topics, 📑 good research topics about dna, 📌 simple & easy dna essay titles, 👍 good essay topics on dna, ❓ questions about dna.

• The Use of DNA Technology in the O. J. Simpson’s Murder Trial The tests revealed that the blood samples taken from the crime scene, the victims’ blood and the blood at the gate matched Simpson’s blood.
• Benefits and Challenges of DNA Profiling The simplest option is to take a sample from the suspect and compare it with the DNA found at the crime scene.
• Forensic DNA Analysis: A Technique to Achieve a Conclusion of Identity Thus, a DNA match corroborates the fact that the suspect was at the scene of the crime and this evidence can help in establishing a case against the suspects.
• Rosalind Franklin: The Discovery of the DNA Structure The discovery of the spatial structure of DNA undoubtedly made a decisive contribution to the development of modern biological science and related fields.
• Biochemical Metabolism: Foreign DNA Molecule The virtual gel should show the band pattern that would result from incubating the plasmid with restriction enzymes as indicated below.
• Ethics of Informed Consent in DNA Research The ethical issue that is the focus of the current study is the use of patient DNA for research by a company without their knowledge and consent.
• Sex and Biology of Gender, From DNA to the Brain The video helped me actualize my prior knowledge on sex and gender as well as enriched my understanding of what biological processes make people transgender. In conclusion, the video under analysis helped me improve my […]
• DNA Barcoding Sequence Analysis of Unknown Plant The efficiency of this instrumental method is built on the idea of close similarity in the structure of DNA molecules to be more precise, the arrangement of nucleotides in it between closely related species: the […]
• DNA Analysis: A Crime-Fighting Tool or Invasion of Privacy? This paper set out to demonstrate that DNA analysis offers a versatile tool for fighting crime and therefore ensuring the success of our civilization.
• The Amplification of DNA Samples The isothermal amplification of nucleic acids represents a simplified process that allows for the quick and efficient accumulation of nucleic acid sequences in an environment of constant temperatures.
• Application of DNA in Criminal Forensics In phylogenetic studies, the analysis of DNA from fossil remains allows one to determine the taxonomic identity of a species, while in forensics, one can find the connection between traces and the perpetrator or the […]
• Neanderthal DNA in the Genomes The article shares the reasons behind the presence of Denisovans; genetic fingerprints are present in many parts of the world today.
• The Nature of DNA Structure Discovery Thus, scientists should expand the idea about the nature of discovery without relying only on insight or results, acknowledging Franklin as a discoverer of DNA structure. It is time to reconsider the nature of discovery […]
• The Discovery of the Deoxyribonucleic Acid (DNA) Structure Watson and Crick are independent; they come up with the idea of building a DNA structure on their own. Chadarevien argues that the image of Crick, Watson, and the double-helical DNA model has a great […]
• Transfer of Beta-Carotene via DNA Techniques Adding yeast as a vector may significantly alleviate the incorporation of the new genes into any species because it includes protein which is vital for the species’ growth and rapid gene manipulation.
• DNA Sequencing with Polymerase Chain Reaction Sixteen possible combinations of the four nucleotide bases of the DNA would give rise to the 16 amino acids. This explains the high melting point of a high G + C content DNA.
• Mitochondria DNA (mtDNA) in Genealogy It is the development of mtDNA that enabled Sykes to trace and guess about the lives of the clan mothers since through it he was able to assess the genetic makeup of modern Europeans.
• Deoxyribonucleic Acid (DNA): Structure and Function This is true of the current article, “The Structure of DNA,” which describes the function, structure, and biological significance of the most important molecule in nature.
• DNA Evidence: The Case of the Golden State Killer Thus, DNA evidence should be used to narrow the circle of suspects before the technology is improved and other people could safely submit their DNA samples.
• DNA Analysis in Criminal Cases The murderer, Bradley Robert Edwards, was recognized to be guilty after committing two rapes in 2016 his DNA samples were taken from under the nails of the victim as she was fighting the rapist in […]
• DNA Cloning and Sequencing: The Experiment The plasmid vector pTTQ18 and the GFP PCR product will be digested with restriction enzymes and the desired DNA fragments obtained thereof will be purified by Polyacrylamide gel electrophoresis and ligated with DNA ligase resulting […]
• DNA Profiling and Required Genetic Testing The reliable tests for conducting genetic testing should be more than one in order to remove the element of doubt on matching DNA bands.
• DNA Microarray Technology and Applications These DNA microarrays are used by scientists in order to determine the appearance levels of a big number of genes, and also to the manifold region of a genome.
• Covalent Modification of Deoxyribonucleic Acid Regulates Memory Formation The article by Miller and Sweatt examines the possible role of DNA methylation as an epigenetic mechanism in the regulation of memory in the adult central nervous system.
• Short Tandem Repeat (STR) DNA Analysis and the CODIS Database The core STR loci developed provides a foundation for global databases of DNA and has future implications in the field of forensic science.
• DNA Analysis in Criminal Investigations DNA analysis is a method aimed at the identification of a person according to his or her characteristics of DNA. In the earlier stages of an investigation, when the mentioned technique serves as a powerful […]
• Ethical Issues on DNA Testing On some occasions, parents and clinicians have used such knowledge to manipulate the fetus’s genetic structure, hindering natural reproduction and messing with God’s creation.
• Importance of Deoxyribonucleic Acid The history of the discovery of DNA dates back to 1865 when Gregory Mendel used theories of heredity in analyzing the genetic profiles of pea plants.
• Knowing One’s DNA Genetic Makeup: Pros and Cons In addition, the knowledge that one might not get a job or insurance because of their genetic makeup is stressful and depressive.
• The Concept of DNA Barcoding The first step towards safeguarding and gaining from biodiversity involves sampling, identifying, and studying the biological specimens to identify the extent of the diversity and use that knowledge for the benefit of the country.
• Forensic Analysis of DNA and Biological Material This was the first stage when carrying out the DNA test on a biological material. Notably, the forensic analyst was not allowed to touch the collection pad of the swab as a precaution measure.
• Developmental Biology: DNA and MicroRNA This is augmented by the strengthening of patterns and the increase in the number of lateral cells that are crucial for the process to be successful.
• Deoxyribonucleic Acid: Review The goals of this experiment are: to enable us to become well acquainted with the physical characteristics of DNA by separating it from living tissue, and the use of each stage in the isolation process […]
• Interesting and Relevant Applications of DNA Technology Week One Activities Learning Outcomes DNA Technology in Laboratory Medicine Diagnostic Relevance and future prospects. Interesting and Relevant Applications of DNA Technology Areas Most striking and need further review in my career – modernized to detect pathogens from the clinical samples in the diagnostic hospitals. Preferred method of identifying organisms based on genomic make up. […]
• DNA Retention and National Security The experiences of Kuwait and the UAE are yet to demonstrate the consequences of the extreme expansion of DNA retention system, but another country has also provided some information for the consideration in the worldwide […]
• Deoxyribonucleic Acid Profiling in Forensics The last part of the analysis includes discussion of the potential for error in DNA profiling. It has to do with the fact that DNA is a material that fulfills most of the criteria making […]
• DNA Tests in the O.J. Simpson’s Case The fact that John’s DNA results match the crime blood DNA results does not prove beyond reasonable doubt that he is responsible for Sally’s murder.
• The E.Z.N.A Commercial Kit: Soil DNA Extraction Optimisation In this paper, the researcher sought to investigate the effectiveness of using the kit for the purposes of optimising the extraction of DNA from marine soils.
• The Helical Structure of DNA: Watson and Crick’s Opinion In addition, the author of this paper makes a comparison between the structure proposed by the two biologists and the information provided in recent textbooks.
• Restriction of Lambda DNA in the Laboratory The DNA in the head of the virus has a unique structure. The restriction site is used for the purposes of recognizing a particular DNA molecule.
• DNA Vaccines: Optimization Methods The three optimization methods scientists have been using to optimize DNA vaccines are the use of regulatory elements, optimization of the codons, and addition of the kozak sequences.
• Comparative Sequence Study in Human and Primate DNA Samples In general, the differences between DNA samples are qualitative and quantitative, and this is explained by the fact that these are responsible for the key biological differences between humans and primates.
• Molecular Components of the DNA Molecule The DNA serves as storage of the genetic information in the form of codes. The DNA polymerase is the enzyme that is responsible for the combination of the phosphate and the nucleotide.
• FRET Detection or DNA Molecules It is for this reason that the method is possibly applicable in the DNA sequencing methods that are composed of single molecules and these are viewed as belonging to the “next-generation”.
• The DNA Extraction Procedure: Scientific Experiment It touches on plant cell DNA extraction, animal cell DNA extraction, sequence used in DNA extraction and composition of the sample.
• The Concept of DNA Cloning In the approach based on cells both the replicating molecule or the biological vehicle known as the vector and the foreign DNA fragment are cut using the same restriction enzyme to produce compatible cohesive or […]
• Biotechnology, Nanotechnology Its a Science for Brighter Future, DNA This means that there should be efforts that are aimed at the promotion of this field so that we can be in a position of solving most of these problems.
• Post Conviction DNA Testing The DNA was first presented as evidence in court in the year 1986 in the USA, and in the subsequent years it presented serious challenges in the court rooms, presently it is been accepted in […]
• Deoxyribonucleic Acid (DNA) Explained to Students In the chromosomes, DNA is organized and compacted by chromatin proteins. The interaction of DNA and other proteins is guided by compact structures.
• DNA Fingerprinting as Biotechnology Application DNA fingerprinting, also known as genetic fingerprinting or DNA profiling is a method used to identify a specific individual. DNA fingerprinting is used to determine the parents of a person i.e.establish paternity.
• Deoxyribonucleic Acid (DNA) Nanotechnology: Chemical and Physical Structure and Properties The essence of DNA in every living organism and certain viruses is that it forms the basis of the genetic instructions that are essential in the development and functioning of these organisms.
• Use of the Information Technology to Solve Crimes: DNA Tests and Biometrics The modus operandi of the IAFIS is as follows: The fingerprints are taken after arrest, processed locally, and then electronically transmitted to state or federal agencies for processing.”The fingerprints are then electronically forwarded through the […]
• Criminal Justice and DNA: “Genetic Fingerprinting” DNA is one of the popular methods used by criminologists today, DNA technique is also known as “genetic fingerprinting”.the name given the procedure by Cellmark Diagnostics, a Maryland company that certified the technique used in […]
• Structure of Deoxyribonucleic Acid The nucleotides join to one another by covalent bonds between the sugar of one nucleotide and the phosphate of the next. The sequence of nucleotides in the DNA strand can be different and vary in […]
• The Innocence Project, Habib Wahir’s Case: DNA Testing During the appeal, the court found that the semen left in the lady by the culprit did not match Habib’s DNA.
• DNA and Genealogy Solving Cold Case Murders: The Modern Technology The issues above are essential, and they make people ask questions of whether it is reasonable to use modern technology in DNA and genealogy.
• Modern Technology in DNA and Genealogy Solving Cold Case Murders The purpose of the study lays in establishing the relationship between ethical, legal, and privacy challenges of using genomics during the investigation.
• DNA and Evolution – What’s Similar Transformation, in molecular genetics, is a change in the hereditary properties of cells as a result of the penetration of foreign DNA into them.
• The Main Objective of DNA Fingerprinting in Agriculture Therefore, the main objective of DNA fingerprinting in agriculture is to overcome the limitation of insufficient dissimilarity among prior genotypes and come up with the best ideas to discover new molecular markers and collect data […]
• DNA Diagnostic Technologies Description This has made it possible to understand the aspects concerning the development of human life as well as genetic causes of abnormalities that are seen in the human body. In the treatment of genetic diseases, […]
• Importance of Expanding FBI’s Forensic DNA Laboratory In addition, acceptance of DNA analysis results as evidence in the Court of law has entrenched DNA analysis in forensic investigations. These have increased the number of samples for DNA analysis in FBI forensic laboratories.
• Meiosis and Splitting of the Dna Into Gametes Meiosis is the basic process happening in the cells carrying the genetic information about the organism into two cells, while the number of chromosomes in the resulting cells is divided into two equal parts, thus […]
• Biotechnology: Copying DNA (Deoxyribonucleic Acid) It refers to a new but identical collection of cells acquired from an original cell by the process of fission, wherein a cell divides itself forming two cells, or by the process of mitosis, wherein […]
• DNA as the Secret of Life Deoxyribonucleic Acid which is commonly referred to as DNA is the nucleic acid that is used in the study of the genetics of the development and the functioning of almost all living organisms with an […]
• DNA in Criminal Investigations In fact, it is possible to speak about the advent of a new field of criminalistics, DNA profiling. RFLP analysis is very discriminative, though, it is worth mentioning, that the samples have to be undamaged, […]
• Deoxyribonucleic Acid (DNA): Structure & Function The significant factor was that the two strands run in the reverse directions and the molecule had a definite base pairing.
• Oswald T. Avery and the Discovery of the DNA Oswald Avery was a man driven with the desire to contribute to humanity but when he finally discovered something of utmost importance the world of science was not quick enough to give recognition to his […]
• Biomedical Discovery of DNA Structure The first parts of the book comprised of the opening of Sir Lawrence Bragg, who gave an overview of the entire book and talked about the significance of Francis Crick and James Watson’s discovery with […]
• Artificial Manipulation of DNA Technology There is microinjection of genes in the zygote pronuclear and the other technique is by injecting the stem cells of the embryo into blastocoels.
• Infectious Bacterial Identification From DNA Sequencing The first is the preparation of the DNA sequence and matching it with the database of known DNA sequences. Given below is a screenshot of the process PCR Amplification: To prepare the polymerase chain reaction, […]
• Mattew Warren: Four New DNA Letters Double Life’s Alphabet In this article, the author describes the work of Steven Benner and other scientists who contributed to the improvement in understanding the nature of synthetic DNA bases.
• DNA Testing Techniques and Challenges Therefore, even though the major part of the evidence can be inaccessible, the sample can be amplified due to the development of technology. The final stage is the evaluation of the accuracy of the analysis […]
• DNA Profiling and Analysis Interpretation Regarding the case of the robbery and murder of a man and a woman, different types of physical evidence can be collected. However, this method can be less effective in case of the contamination of […]
• Sleep Helps to Repair Damaged DNA in Neurons The researchers found that the chromosomes in the fish’s neurons would often change shape while their owners slept, enabling the repair of the damage accumulated in periods of activity.
• DNA Replication as a Semiconservative Process The process of DNA replication has been studied extensively as the pathway to understanding the processes of inheritance and the possible platform for addressing a range of health issues occurring as a result of DNA […]
• Obtaining a DNA Sample Legally Furthermore, it is impossible to search not only the suspect’s house but also the curtilage, which is also protected according to the Fourth Amendment because it is a private territory.
• Dr. Michio Kaku’s Predictions of the DNA Screening In the documentary, the city planners warn the public that the insufficient growth and the development of the suburban areas threaten both the economy of the country as well as its community.
• Exponentials and Logarithms: the Cell and DNA The result will be; log to the base of 2 of ‘x’ equals ‘y’.’y’ usually refers to the power to which one raises ‘2’ to get ‘x’ This can be simplified as follows; F =2x […]
• Bird DNA Extraction: Sex Determination of Gallus Gallus DNA was obtained from blood, muscle tissue and feathers of the bird. The last step was to visualize the DNA extract through gel electrophoresis and making conclusions of the bird’s sex.
• Recombinant DNA Technology and pGLO Plasmid Use Transformation of bacterial cells, which is one of the approaches used in genetic engineering, involves the transfer of genetic material from one bacterium to another using a plasmid vector.
• DNA in Action: Sockeye Salmon Fisheries Management The researchers in the article carried out an analysis entailing a total sum of 9300 salmon fish species. The latter was followed by mixed stock samples in the lower region of Fraser River and test […]
• DNA-Binding Specificities of Human Transcription Factors The main purpose of the experiment was to analyze and determine how human transcription factors are specifically bound by DNA. Most human transcriptional factors have been systematically analyzed in the methodology and result sections of […]
• Innovator’s DNA: Entrepreneurial Assessment With time, I discovered that the questioning spirit was a reflection of what goes on in the mind of an entrepreneur.
• DNA Evidence and Its Use in the US Criminal Law The concluding statement of the Supreme Court of the United States defined the procedure of obtaining DNA samples as a procedure identical to taking fingerprints or taking pictures of the crime scene.
• Wildlife Forensic DNA Laboratory and Its Risks The mission of the Wildlife Forensic DNA Laboratory is to provide evidence to governmental and non-governmental organizations to ensure the protection of the wildlife in the country.
• Genes, Deoxyribonucleic Acid (DNA), and Heredity Others said RNA and DNA are the same and that they are responsible for making proteins. The statement “you are your genes” is virtually right because DNA is the basis of heredity and it is […]
• How Has DNA Changed the Field of Physical Anthropology? It is indeed correct to argue that contemporary DNA research has not only changed the field of physical anthropology in major ways, but it continues to alter and broaden our understanding and perceptions in a […]
• Organizational DNA Analysis Moreover, due to the spontaneous growth of the organization that took a snowball design, it experienced a challenge in supplying its products to the target consumers.
• DNA as an Evidence From a Crime Scene The mitochondrial DNA is transferred directly from the mother to the offspring and in this case, there is no DNA of the father present here.
• DNA Definition and Its Use by the US Police The location for most DNA is the nucleus though some may be found in the mitochondria and is called mitochondrial DNA.
• The DNA of an Entrepreneur: Is There an Entrepreneur Gene
• The Use and Importance of DNA Profiling in the Police Force in America
• The Role of DNA Technology in Crime Investigation
• The Future of Computers and DNA Computing
• Will a National DNA Database Decrease Crime in the U.S
• The Human Genome Project and Patenting DNA
• The Essential Features of the Watson-Crick Model on the DNA
• The Structure of the DNA and the Future of Genetic Engineering
• The Effectiveness of DNA Evidence in Obtaining Criminal Convictions
• The Evolution of DNA Silencing Technology over the Years
• The History, Function and Advancement in DNA Technologies
• The Different Uses and Importance of DNA Replication
• The Advancement of DNA Testing in Criminal Trials and Its Benefits
• The Idea of Cloning Animals and Humans since the Discovery of DNA
• The Biochemical Description of the DNA and Its Importance in Cloning
• Why Ageing Occurs Are All Under The Guideline Of DNA
• Self Assembling Circuits Using DNA, The Next Computer Breakthrough
• Significance of Discoveries in Genetics and DNA
• Understanding Recombinant DNA Technology
• The Contribution of DNA Profiling to Changing the Crime Solving System
• Understanding How Genetic Engineering Works from the Perspective of the DNA
• The Use of Recombinant DNA Technology
• The Random Amplified Polymorphic DNA Polymerase Chain Reaction
• The Genesis of DNA Profiling and Its Use in the Modern World
• The Effects Of Gene Editing On Human DNA
• Use Of DNA In Criminal Investigations
• Tools and Techniques for DNA Manipulation
• Timeline on Our Understanding of DNA and Heredity
• Rosalind Franklin: Unsung Hero Of The DNA Revolution
• The Impact of the Use of DNA Analysis for Forensic Analysis
• Your DNA: Who Has Access To It And How It Should Be Used
• Structure and Analysis of DNA and Implications for Society
• The Light and Dark Side of DNA Technology
• The Functions Of DNA And Protein Synthesis
• Watson and Crick and the Discovery of DNA’s Structure
• The Uses of DNA Technology in Forensic Science
• The Discovery and Understanding of the Structure of DNA by James Watson and Francis Crick
• The Work of James Watson and Francis Crick on the Exploration of DNA Structure
• Uses Of DNA And Fingerprints In Crime Scene Investigation
• The Structure of DNA and the Risks Inherent in Understanding It
• The Concept and Role of DNA Fingerprinting in Solving Crimes
• How Is DNA Deciphered?
• Which Scientists Participated in the Discovery of DNA?
• What Experiments Did Scientists Use to Discover DNA?
• What Is the Structure of DNA?
• What Are the Methods of Diagnosing Plant Diseases Based on DNA?
• DNA: What Are the Potential Effects on Skeletal Muscle Aging in Humans?
• How Many Crimes Are Solved by DNA?
• What Does Vitamin Help With DNA Repair?
• Why Do Researchers Study DNA?
• Is It Possible to Control the Aids Virus With a DNA Vaccine?
• How Does DNA Help Fight Crime?
• What Are the Analytical Methods of DNA Extraction?
• What Is a DNA Sequence?
• How Would You Analyze the DNA Matches of Identical Twins?
• When Was DNA Discovered?
• How Different Is Human DNA From Animal DNA?
• Is It Possible to Clone the DNA of Animals and Plants?
• How Many DNA Molecules Are in a Chromosome?
• Is It Possible to Artificially Create DNA?
• Can Cancer Be Detected in DNA?
• How Accurate Is DNA Evidence?
• What Is the DNA Replication Process?
• Can Siblings Have Different DNA?
• Why Does ATM Deficiency Accelerate DNA Damage in HIV-Infected Individuals?
• Can DNA Evidence Ever Be Wrong?
• A Bioethical Question: Is DNA Fingerprinting Mandatory?
• Which Part of DNA Carries Genetic Information?
• How Is DNA Used in Research?
• What Are the Types of DNA?
• What Is the Basic Structure of DNA?
• Determinism Research Topics
• Epigenetics Essay Titles
• Down Syndrome Topics
• Gene Titles
• Vaccination Research Topics
• Genetic Engineering Topics
• Innovation Titles
• Genetics Research Ideas
• Chicago (A-D)
• Chicago (N-B)

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121 DNA Essay Topic Ideas & Examples

Inside This Article

DNA, short for deoxyribonucleic acid, is a molecule that carries the genetic instructions for the development, functioning, growth, and reproduction of all living organisms. It is often referred to as the "building blocks of life" due to its crucial role in determining our traits and characteristics.

Given the importance of DNA in understanding our biology and genetics, it is no surprise that it is a popular topic for essays and research papers. If you are looking for inspiration for your next DNA essay, here are 121 topic ideas and examples to get you started:

• The structure and function of DNA
• The discovery of DNA by James Watson and Francis Crick
• The role of DNA in genetics
• DNA replication and its importance in cell division
• The impact of mutations on DNA and genetic disorders
• The use of DNA in forensic science
• DNA profiling and its applications in criminal investigations
• The ethical implications of DNA testing
• The history of DNA research
• The Human Genome Project and its significance
• The relationship between DNA and evolution
• DNA sequencing technologies and their advancements
• The role of epigenetics in gene expression
• DNA methylation and its effects on gene regulation
• The role of telomeres in DNA replication and aging
• The use of DNA in gene therapy and genetic engineering
• The potential benefits and risks of genetically modified organisms
• The impact of DNA testing on personalized medicine
• The role of DNA in cancer research and treatment
• The use of DNA in agriculture and food production
• The ethical considerations of gene editing technologies like CRISPR
• The influence of environmental factors on DNA expression
• The role of non-coding DNA in gene regulation
• The relationship between DNA and RNA in protein synthesis
• The role of DNA in cell signaling and communication
• The impact of DNA mutations on evolution
• The use of DNA in ancestry testing and genealogy
• The role of DNA in determining traits like eye color and hair texture
• The potential applications of DNA nanotechnology
• The role of DNA in immune system function
• The effect of lifestyle choices on DNA health
• The role of mitochondrial DNA in inherited diseases
• The use of DNA barcoding in species identification
• The impact of DNA damage on aging and disease
• The role of DNA in embryonic development
• The use of DNA in wildlife conservation
• The potential applications of DNA computing
• The impact of DNA on behavior and personality
• The role of DNA in drug response and metabolism
• The ethical implications of genetic screening and designer babies
• The use of DNA in paleontology and evolutionary studies
• The role of DNA in biotechnology and bioengineering
• The impact of DNA on human diversity and population genetics
• The potential applications of synthetic DNA
• The role of DNA in epigenetic inheritance
• The use of DNA in environmental monitoring and pollution control
• The impact of DNA on brain development and function
• The role of DNA in plant breeding and agriculture
• The potential applications of DNA vaccines
• The use of DNA in drug discovery and development
• The role of DNA in stem cell research and regenerative medicine
• The impact of DNA on neurodegenerative diseases
• The ethical considerations of cloning and genetic engineering
• The use of DNA in biometrics and identity verification
• The role of DNA in aging and longevity
• The potential applications of DNA repair technologies
• The impact of DNA on mental health and psychiatric disorders
• The role of DNA in immune system disorders
• The use of DNA in personalized nutrition and diet planning
• The ethical implications of genetic modification in agriculture
• The role of DNA in organ transplantation and tissue engineering
• The impact of DNA on cardiovascular diseases
• The potential applications of DNA-based therapeutics
• The use of DNA in environmental remediation and bioremediation
• The role of DNA in biosecurity and bioterrorism prevention
• The impact of DNA on infectious diseases and pandemics
• The ethical considerations of genetic privacy and data security
• The use of DNA in predicting and preventing genetic diseases
• The role of DNA in the diagnosis and treatment of rare diseases
• The potential applications of DNA in personalized skincare
• The impact of DNA on metabolic disorders like diabetes
• The role of DNA in reproductive health and fertility
• The use of DNA in the conservation of endangered species
• The ethical implications of using DNA in criminal investigations
• The role of DNA in understanding human migration and evolution

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111 DNA Essay Topics

🏆 best essay topics on dna, ✍️ dna essay topics for college, 🎓 most interesting dna research titles, 💡 simple dna essay ideas, ❓ questions about dna.

• DNA Analysis in Forensic Science
• DNA Retention: Advantages and Disadvantages for DNA Collection
• The Structure of Deoxyribonucleic Acid (DNA)
• A Practical Report on DNA Fingerprinting
• DNA Cloning and Sequencing: The Vector pTTQ18
• Short Tandem Repeat (STR) DNA Analysis and the CODIS Database
• Differences Between Human and Chimpanzee DNA
• Encoding and Saving Data in DNA for Business The desire for constant development might become a basis for the innovation implementation and integration the DNA information technology into business operations.
• DNA Physical Properties and Viscosity: A Lab Study This report recaps the results of a study of DNA viscosity. Thermal denaturation, alcohol precipitation, and mechanical shearing positively reduced the cell suspension’s viscosity.
• DNA and Proteins as Evolutionary Tape Measures DNA and proteins can be used as tape measures of evolution but their usage depends on the concept of a linear sequence of nucleotides.
• DNA Analysis: A Crime-Fighting Tool or Invasion of Privacy? The paper argues that DNA analysis is an important crime-fighting tool and bring great benefit despite the likelihood of an invasion of privacy.
• Cell DNA and Protein Synthesis The most prominent one in eukaryotic cells is the nucleus, which contains the DNA and controls the cell’s operations.
• Privacy Concerns Over DNA Sequences This essay will review the presented issue of privacy concerns over DNA sequences from the position of the scientific community and lawmakers.
• The Usage of DNA Technology in Forensic Science DNA typing technology gives the forensic science an opportunity to uncover the information considered by the society “intensely private”.
• Complete Mapping of DNA‐Protein Interactions by Liu et al. The regulation of genetic information is important and must occur within the confines of specific conditions to ensure the expression of the target genes.
• Genomic Data: The Role of Deoxyribonucleic Acid Deoxyribonucleic acid commonly referred to as DNA is a heredity carrier in living organisms containing genetic information on growth and development.
• Genomic Analysis DNA of Bacillus Subtilis In the case, there is the genomic DNA of Bacillus Subtilis given to compare the utility of different types of DNA sequencing technologies.
• Transcription and DNA Replication DNA replication is the most important process in the regulation of cell life, contributing to efficient cell division and preservation of genetic material through generations.
• Evidence of Non-Random Mutations in DNA Although the results discussed prove that non-random mutations occur in thale cress, there is a high probability that similar processes will happen in other live organisms.
• DNA Fingerprinting Technology: Description and Use . Invented in 1984, DNA fingerprinting still remains relevant to this day, and it is used in many fields, including criminology.
• DNA for Identifying Convicts: Article Response In his 2006 article, Danny Hakim addresses a somewhat controversial issue of using DNA to identify possible suspects among known convicts in case of a crime.
• An Experiment in DNA Cloning and Sequencing The aim of this experiment is to clone a fragment of DNA that includes the Green Fluorescent Protein (GFP) gene into the vector pTTQ18, which is an expression vector.
• Types and Causes of the DNA Mutations Mutations occur when mistakes occur in DNA duplication and are classified based on different premises; all of them are rare and lead to abnormal alleles.
• Digital Forensics and Deoxyribonucleic Acid The practice of digital forensics involves analysis of data collected computing devices from a particular crime scene.
• 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.
• Relationships Between Reproduction, Heredity, and DNA Genetic information in DNA is transcribed to RNA and then translated into the amino acid sequence of a Protein.
• Ancient DNA Studies and Current Events Analysis The study of DNA, starting with the human genome, has broadened to allow researchers to explore changes in various animal patterns.
• DNA Manipulation in Control of Mosquitoes and Gene The DNA sequence specific to the mutated PLA2 (PLA2) would be finally placed in the downstream region of a mosquito midgut-specific promoter.
• 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.
• DNA and RNA Transcription The process of DNA transcription takes place in several stages, during which RNA is first recorded, information from which organizes amino acids into proteins.
• The Relevance of DNA Computers in the Modern World The researchers propose as an alternative to use natural biomolecules contained in the organisms of all living things, namely, DNA.
• Is DNA a Foolproof Way of Identifying a Person? This post aims to discuss different ways of using DNA to determine if it is a reliable source of identification.
• Cancer Interference With Dna Replication Reports indicate that a greater percentage of human cancers originate from chemical substances as well as environmental substances.
• Natural Sciences: Junk DNA Has an Important Role The paper examines the phenomenon of the junk DNA and provides the agruments why it is truly not junk and acts as a key role in the evolution of mankind.
• Detection of Pathogens With Cell-Free Dna Extracting and studying cfDNA not only led to breakthrough achievements in pathogen diagnosis but also replaced difficult and dangerous invasive methods, such as amniocentesis.
• DNA Profiles in the Golden State Killer Case One of the most recent tools available for crime investigations is a DNA match of one’s profile in a publicly available genealogy database.
• 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.
• The Cloning of a DNA Fragment, and a Southern Blot . Southern blotting can either be used in the determination of small fragment of a single gene or a large DNA sequence such as part of the genome of an organism.
• Major Experiments and Scientists Involved in the Discovery of DNA as Our Hereditary Material and Its Structure
• DNA Mutations and Their Effects on Humans
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These essay examples and topics on DNA 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.

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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.

Citations/References:

• Kennedy, M.A. (2005). Mendelian Genetic Disorders. In eLS, (Ed.). https://doi.org/10.1038/npg.els.0003934
• Cooper, G. M. (2000). The Cell: A Molecular Approach. 2nd edition. NCBI. Retrieved 2022, from https://www.ncbi.nlm.nih.gov/books/NBK9944/
• Wanjin, X., & Morigen, M. (2015). Understanding the cellular and molecular mechanisms of dominant and recessive inheritance in genetics course. Yi chuan = Hereditas, 37(1), 98–108. https://doi.org/10.16288/j.yczz.2015.01.014
• Prosen, T., & Hogge, W. (2008). Molecular and Mendelian Disorders. The Global Library of Women’s Medicine. https://www.glowm.com/section-view/heading/Molecular%20and%20Mendelian%20Disorders/item/223#.YhygEJNBzAN
• MedlinePlus. (2021). Phenylketonuria. https://medlineplus.gov/genetics/condition/phenylketonuria/
• Mendel, G., & Bateson, W. (2013). Mendel’s Principles of Heredity Dover Books on Biology. Courier Corporation.
• Antonarakis, S. E., Chakravarti, A., Cohen, J. C., & Hardy, J. (2010). Mendelian disorders and multifactorial traits: the big divide or one for all?. Nature reviews. Genetics, 11(5), 380–384. https://doi.org/10.1038/nrg2793
• What are complex or multifactorial disorders?: MedlinePlus Genetics. (2021). Medline Plus. https://medlineplus.gov/genetics/understanding/mutationsanddisorders/complexdisorders/
• Allergic asthma: MedlinePlus Genetics. (2020). MedlinePlus. https://medlineplus.gov/genetics/condition/allergic-asthma/

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).

References/Citations:

• Dastur, AdiE, and PD Tank. “Gregor Johann Mendel: The Father of Modern Genetics.” Journal of Prenatal Diagnosis and Therapy, vol. 1, no. 1, 2010, p. 3, https://doi.org/10.4103/0976-1756.62132.
•  Reyna, Barbara, and Rita Pickler. “Patterns of Genetic Inheritance.” Neonatal Network, vol. 18, no. 1, Feb. 1999, pp. 7–10, https://doi.org/10.1891/0730-0832.18.1.7.
•  Miko, Ilona. “Gregor Mendel and the Principles of Inheritance | Learn Science at Scitable.” Nature.com, 2014, www.nature.com/scitable/topicpage/gregor-mendel-and-the-principles-of-inheritance-593/#.
• Mendel, Gregor. “Versuche Über Pflanzen-Hybriden.” Der Züchter, vol. 13, no. 10-11, Oct. 1941, pp. 221–68, https://doi.org/10.1007/bf01804628.
• Jensen, Peter K. A. “[Monogenic Hereditary Diseases].” Ugeskrift for Laeger, vol. 165, no. 8, Feb. 2003, pp. 805–9, pubmed.ncbi.nlm.nih.gov/12625123/.
• Chial, Heidi. “Gregor Mendel and Single-Gene Disorders | Learn Science at Scitable.” Nature.com, 2014, www.nature.com/scitable/topicpage/mendelian-genetics-patterns-of-inheritance-and-single-966/.
• Hansen, Adam W., et al. “A Genocentric Approach to Discovery of Mendelian Disorders.” The American Journal of Human Genetics, vol. 105, no. 5, Nov. 2019, pp. 974–86, https://doi.org/10.1016/j.ajhg.2019.09.027.
•  Botstein, David, and Neil Risch. “Discovering Genotypes Underlying Human Phenotypes: Past Successes for Mendelian Disease, Future Approaches for Complex Disease.” Nature Genetics, vol. 33, no. S3, Mar. 2003, pp. 228–37, https://doi.org/10.1038/ng1090.
• Gilissen, Christian, et al. “Unlocking Mendelian Disease Using Exome Sequencing.” Genome Biology, vol. 12, no. 9, 2011, p. 228, https://doi.org/10.1186/gb-2011-12-9-228.
• Antonarakis, Stylianos E., and Jacques S. Beckmann. “Mendelian Disorders Deserve More Attention.” Nature Reviews Genetics, vol. 7, no. 4, Mar. 2006, pp. 277–82, https://doi.org/10.1038/nrg1826.
• Hamosh, Ada. “OMIM Entry Statistics.” Omim.org, omim.org/statistics/entry#.
• SCHORK, NICHOLAS J. “Genetics of Complex Disease.” American Journal of Respiratory and Critical Care Medicine, vol. 156, no. 4, Oct. 1997, pp. S103–9, https://doi.org/10.1164/ajrccm.156.4.12-tac-5.
• Blair, David R., et al. “A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk.” Cell, vol. 155, no. 1, Sept. 2013, pp. 70–80, https://doi.org/10.1016/j.cell.2013.08.030.
• Chong, Jessica X., et al. “The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.” The American Journal of Human Genetics, vol. 97, no. 2, Aug. 2015, pp. 199–215, https://doi.org/10.1016/j.ajhg.2015.06.009.
• Dean, Michael. “Approaches to Identify Genes for Complex Human Diseases: Lessons from Mendelian Disorders.” Human Mutation, vol. 22, no. 4, Aug. 2003, pp. 261–74, https://doi.org/10.1002/humu.10259.
• Kathiresan, Sekar, and Deepak Srivastava. “Genetics of Human Cardiovascular Disease.” Cell, vol. 148, no. 6, Mar. 2012, pp. 1242–57, https://doi.org/10.1016/j.cell.2012.03.001.
• Spataro, Nino, et al. “Properties of Human Disease Genes and the Role of Genes Linked to Mendelian Disorders in Complex Disease Aetiology.” Human Molecular Genetics, vol. 26, no. 3, Feb. 2017, pp. 489–500, https://doi.org/10.1093/hmg/ddw405.

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.

• Mendel, J.G., Versuche u ̈ber Pflanzenhybriden Verhandlungen des naturforschenden Vereines in Brünn, Bd. IV für das Jahr, Abhandlungen. 1865: p. 3-47.
• Badano, J.L. and N. Katsanis, Beyond Mendel: an evolving view of human genetic disease transmission. Nat Rev Genet, 2002. 3(10): p. 779-89.
• Steinberg, M.H. and A.H. Adewoye, Modifier genes and sickle cell anemia. Curr Opin Hematol, 2006. 13(3): p. 131-6.
• Monaco, A.P., et al., Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature, 1986. 323(6089): p. 646-50.
• Drumm, M.L., A.G. Ziady, and P.B. Davis, Genetic variation and clinical heterogeneity in cystic fibrosis. Annu Rev Pathol, 2012. 7: p. 267-82.
• Emond, M.J., et al., Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Nat Genet, 2012. 44(8): p. 886-9.
• Van Heyningen, V. and P.L. Yeyati, Mechanisms of non-Mendelian inheritance in genetic disease. Hum Mol Genet, 2004. 13 Spec No 2: p. R225-33.
• Dean, M., Approaches to identify genes for complex human diseases: lessons from Mendelian disorders. Hum Mutat, 2003. 22(4): p. 261-74.
• Quintana-Murci, L. and L.B. Barreiro, The role played by natural selection on Mendelian traits in humans. Ann N Y Acad Sci, 2010. 1214: p. 1-17.
• Assimes, T.L. and P.S. de Vries, Making the Most out of Mendel’s Laws in Complex Coronary Artery Disease. J Am Coll Cardiol, 2018. 72(3): p. 311-313.
• Wright, S., An Analysis of Variability in Number of Digits in an Inbred Strain of Guinea Pigs. Genetics, 1934. 19(6): p. 506-36.
• Korf, B.R., Basic genetics. Prim Care, 2004. 31(3): p. 461-78, vii.
• Crawford, N.P., Deciphering the Dark Matter of Complex Genetic Inheritance. Cell Syst, 2016. 2(3): p. 144-6.
• Kere, J., Genetics of complex disorders. Biochem Biophys Res Commun, 2010. 396(1): p. 143-6.
• Zuk, O., et al., The mystery of missing heritability: Genetic interactions create phantom heritability. Proc Natl Acad Sci U S A, 2012. 109(4): p. 1193-8.
• Clarke, G., et al., Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis. Nat Genet, 2000. 25(1): p. 67-73.
• Travis, G.H., et al., Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature, 1989. 338(6210): p. 70-3.
• Papi, A., et al., Asthma. Lancet, 2018. 391(10122): p. 783-800.
• Wolff, G.L., et al., Maternal epigenetics and methyl supplements affect agouti gene expression in Avy/a mice. FASEB J, 1998. 12(11): p. 949-57.
• Waterland, R.A. and R.L. Jirtle, Transposable elements: targets for early nutritional effects on epigenetic gene regulation. Mol Cell Biol, 2003. 23(15): p. 5293-300.

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
• Pray, L. (2008) Discovery of DNA structure and function: Watson and Crick. Nature Education 1(1):100
• Adams, J. (2008) Sequencing human genome: the contributions of Francis Collins and Craig Venter. Nature Education 1(1):133
• Conneally P. M. (1984). Huntington disease: genetics and epidemiology. American journal of human genetics, 36(3), 506–526.
• Gallati S. (2003). Genetics of cystic fibrosis. Seminars in respiratory and critical care medicine, 24(6), 629–638. https://doi.org/10.1055/s-2004-815659
• 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.

• Marçon, C. R., & Maia, M. (2019). Albinism: Epidemiology, genetics, cutaneous characterization, psychosocial factors. Anais brasileiros de dermatologia. Retrieved March 1, 2022, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6857599/
• Grønskov, K., Ek, J., & Brondum-Nielsen, K. (2007, November 2). Oculocutaneous albinism. Orphanet journal of rare diseases. Retrieved March 1, 2022, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2211462/
• Gulani, A. (2021, May 8). Genetics, autosomal recessive. StatPearls [Internet]. Retrieved March 1, 2022, from https://www.ncbi.nlm.nih.gov/books/NBK546620/
• Franić, S., Groen-Blokhuis, M. M., Dolan, C. V., Kattenberg, M. V., Pool, R., Xiao, X., Scheet, P. A., Ehli, E. A., Davies, G. E., van der Sluis, S., Abdellaoui, A., Hansell, N. K., Martin, N. G., Hudziak, J. J., van Beijsterveldt, C. E. M., Swagerman, S. C., Hulshoff Pol, H. E., de Geus, E. J. C., Bartels, M., … Boomsma, D. I. (2015, October). Intelligence: Shared genetic basis between Mendelian disorders and a polygenic trait. European journal of human genetics : EJHG. Retrieved March 1, 2022, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592100/
• Lango Allen, H., Estrada, K., Lettre, G., Berndt, S. I., Weedon, M. N., Rivadeneira, F., Willer, C. J., Jackson, A. U., Vedantam, S., Raychaudhuri, S., Ferreira, T., Wood, A. R., Weyant, R. J., Segrè, A. V., Speliotes, E. K., Wheeler, E., Soranzo, N., Park, J.-H., Yang, J., … Hirschhorn, J. N. (2010, October 14). Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature. Retrieved March 1, 2022, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2955183/
• 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/
• Federico, J. R. (2021, August 27). Albinism. StatPearls [Internet]. Retrieved March 1, 2022, from https://www.ncbi.nlm.nih.gov/books/NBK519018/
• Board, P. D. Q. C. G. E. (2009, July 29). Genetics of Skin Cancer (PDQ®). PDQ Cancer Information Summaries [Internet]. Retrieved March 1, 2022, from https://www.ncbi.nlm.nih.gov/books/NBK65895/
• Nathan, V., Johansson, P. A., Palmer, J. M., Howlie, M., Hamilton, H. R., Wadt, K., Jönsson, G., Brooks, K. M., Pritchard, A. L., & Hayward, N. K. (2019). Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma. Pigment Cell & Melanoma Research, 32(6), 854–863. https://doi.org/10.1111/pcmr.12804
• Krakow, D., & Rimoin, D. L. (2010, April 27). The skeletal dysplasias. Nature News. Retrieved March 1, 2022, from https://www.nature.com/articles/gim201054
• U.S. National Library of Medicine. (2020, August 18). Achondroplasia: Medlineplus genetics. MedlinePlus. Retrieved March 1, 2022, from https://medlineplus.gov/genetics/condition/achondroplasia/#inheritance
• U.S. National Library of Medicine. (2020, August 18). Isolated growth hormone deficiency: Medlineplus Genetics. MedlinePlus. Retrieved March 1, 2022, from https://medlineplus.gov/genetics/condition/isolated-growth-hormone-deficiency/
• Ibarrola-Villava, M., Hu, H.-H., Guedj, M., Fernandez, L. P., Descamps, V., Basset-Seguin, N., Bagot, M., Benssussan, A., Saiag, P., Fargnoli, M. C., Peris, K., Aviles, J. A., Lluch, A., Ribas, G., & Soufir, N. (2012). MC1R, SLC45A2 and Tyr genetic variants involved in melanoma susceptibility in southern European populations: Results from a meta-analysis. European Journal of Cancer, 48(14), 2183–2191. https://doi.org/10.1016/j.ejca.2012.03.006

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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Essays on DNA

The DNA (abbreviation for deoxyribonucleic acid) molecule has a very special place in life science, making a DNA essay a worthy study. Essays on DNA teach us how DNA stores complete information about the structure and properties of the organism. Therefore, knowledge of all the structural features of DNA is fundamentally important. DNA essays often explore the structure of DNA – a famous double helix It was discovered by Watson and Crick in 1953, which started a new era in the history of human civilization – the era of molecular biology and genetics, biotechnology, and molecular medicine. Our DNA essay samples will make you well-equipped for writing your own essay. Simply check out samples of DNA essays below.

The use of biometric identifiers in security systems is an enticing idea and has been embraced by the public following its use in banking systems where the data from iris scanners, facial recognition, and fingerprint scanners is utilized. Biometric identifier locates the user’s details from the central database, whereas the...

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CRISPR was first discovered by Ishino and coworkers at Osaka University in Japan while cloning a peculiar gene-repeat (Ishino et al. 5429-30). Nearly two decades later, a group of researchers at the food ingredient producer Danisco in Madison, United States, discovered that these CRISPR repetitions in bacteria offered defense against...

From its humble beginnings, forensic science has come a long way. For identification purposes, fingerprints have been used for a very long period. The breadth of forensic discoveries and advancements will be extended by this discipline. The tools used today to identify criminal offenders include DNA testing, impressions, and even...

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Recently, it has been proposed that human DNA and RNA are structurally distinct. As the scientific theory of the origin and evolution of man indicates, the structure, a double helix, of these two salts, i.e., both the RNA and the DNA, has actually been present for billions of years. Numerous...

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Introduction After the use of fingerprints, the use of DNA testing for forensic investigations can be considered the most important invention in the area of criminal investigations. The word "DNA" stands for deoxyribonucleic acid. DNA utilizes biological components like skin, hair, blood, and bodily fluids to identify people. A distinctive genetic...

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The film Gattaca is set in the future, where DNA plays an important part in defining social class and genetic modification of people is common. Vincent, according to Brezina, Enrico, and Amelia, is born and conceived without the assistance of technology (338). Vincent is subjected to strong genetic prejudice and...

The jurors made a critical error in their evaluation of the evidence. With all of the evidence shown to the jurors, it is easy to conclude that there was no tampering with or framing of the evidence in order to frame "the kid" of the crime against his blood father....

The term "signature-tagged mutagenesis" (STM) refers to a technique that allows for the simultaneous screening of numerous different mutants. The method is accomplished by applying a special DNA sequence known as a signature tag to each of the implicated bacteria. Initially, this method was referred to as TN mutagenesis screening...

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An organism classified as a genetically modified organism (GMO) has had its DNA altered or transformed. Recombinant DNA is a process that includes transferring genetic material from one plant or animal to another to create these organisms. The genetic engineering method produced GMOs (Zhang, 2016). The method involves inserting the...

DNA sequence changes can result from cell mutations passed down from a parent organism to its children. Some cell mutations can be advantageous, but the majority are damaging because they result in the cell's ability to perform a specific function being lost. Bacteria naturally experience base pair mutations at a...

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Home Essay Samples Science

Essay Samples on DNA

Dna as the carrier of genetic information about us.

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The Purpose of Mitosis and the Cell Cycle in DNA

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Epigenetic Inheritance Mediated By Coupling Of RNAi And Histone H3K9 Methylation

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Genome Editing: Overview Of CRISPR System

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Best topics on DNA

1. DNA as the Carrier of Genetic Information About Us

2. The Biological Clock Theory: A Key to Understanding the Aging Process

3. Quantum Mechanics: the Solution to DNA Mutation

4. Chromosomal Alterations and Male Infertility

5. The Benefits of CRISPR Technology: Enhancement of the Human Body

6. Viruses and Genetic Occurences Specific to Koalas

7. Intentional Tanning and Its Impact on Skin Cancer

8. The Purpose of Mitosis and the Cell Cycle in DNA

9. Forensic DNA Analysis: Strengths and Limitations

10. Epigenetic Inheritance Mediated By Coupling Of RNAi And Histone H3K9 Methylation

11. The History Of Cloning & My Attitude To Human Cloning

12. Designer Babies: A Technological Step Forward, Not To Be Prohibited

13. Genome Editing: Overview Of CRISPR System

14. Transposones’ Action And Antibiotic Resistance: Gene Inactivation

15. A Discussion on the Positive Elements of Genetically Modifying Children

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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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DNA Essay Topics & Ideas

• Dna Essay Topics for High School Students
• Dna Compare and Contrast Essay Topics
• Argumentative Essay Topics About Dna
• Good Essay Topics About Dna
• Persuasive Essay Topics About Dna

DNA Essay Topics for High School Students

• “Four New DNA Letters Double Life’s Alphabet”: Article Analysis
• “Species Identification Reveals Mislabeling of Important Fish Products in Iran by DNA Barcoding”
• A role for transportin in the nuclear import of Adenovirus core proteins and DNA
• A Study of DNA Replication and Mutation
• Abstract DNA or RNA
• Advances in DNA Sequencing: Nanopore Technology
• An Introduction To DNA
• An Overview of DNA Replication
• Artificial Manipulation of DNA Technology
• Benefits and Challenges of Dna Profiling
• Biology 3.3 Dna Structure
• Biomedical Discovery of DNA Structure
• Biotechnology, Nanotechnology Its a Science for Brighter Future, DNA
• Biotechnology: Copying DNA (Deoxyribonucleic Acid)
• Bird DNA Extraction: Sex Determination of Gallus Gallus
• Cells. Mitosis. DNA
• Comparative Sequence Study in Human and Primate DNA Samples Research
• Computing Exponentially Faster: Implementing a Non-deterministic Universal Turing Machine Using DNA
• Describe How DNA Has Enhanced Law Enforcement
• DNA – Down Syndrome
• Dna Analysis Practical Write-Up
• DNA Analysis: A Crime-fighting Tool or Invasion of Privacy?

✨ Best dna Topic Ideas & Essay Examples

• One in a Million: DNA Fingerprinting DNA fingerprinting (the use of a person’s DNA to identify them) has become a hot topic in the field of law enforcement as well as the entire world. The controversy exists on whether or not it should be admitted in court as evidence at this time. ….
• Dna Computing, The Future Or The End? DNA Computing,The Future or the End?The future of computers is in the hands of the nextcentury. The evolution of the Computer Age has become apart of everyday life, and as time proceeds, people aredepending more and more on computer technology. ….
• The Advantages of DNA Replication DNA stands for Deoxyribonucleic acid, and it is found in the nucleus of every cell in the human body. DNA is the master plan – it contains all the genetic information needed for a living thing to develop and function. Each and every single organism ….
• DNA Fingerprinting Method Print Edit in MsWord Edit in WordPerfect Edit in ClarisWorks Student Worksheet LSM 6.3-5 Additional Activity: Switched at Birth! DNA Fingerprinting: An Application Although a rare occurrence, cases of babies switched at birth in a hospital have made ….
• Use Of Forensics With Dna Trailing The polymerase concatenation reaction ( PCR ) has become a critical tool within biotechnology, familial research forensic scientific discipline and medical specialty since it was foremost invented by Kary Mullins in 1983 ( Hongbao, 2005 ) . It has ….
• Recombinant Dna Pkan And Pamp Biology Deoxyribonucleic acid is an indispensable portion of beings. It is the manager of many facets of the organic structure. The Deoxyribonucleic acid consists of a sugar base, phosphate and a nitrogen base. There are merely four N bases to take from. ….
• Mitochondrial DNA Analysis And Technology Biology In cells of human existences Deoxyribonucleic acid ( DNA ) is found in the karyon every bit good as in chondriosome. The mitochondrial cell organ is referred to “ power house of cell ” because molecular merchandises produced by it, provides the ….
• Recombinant DNA Technology – Research Importance of recombinant proteins have been increased 100 creases. Because of the promotions in rDNA engineering, they are found in every pharmaceutics, physician ‘s clinic, medical and biological research research lab. In this reappraisal we have ….
• Pos. and Neg. of DNA Profiling The Positives and Negatives on DNA ProfilingDNA testing has many uses, both positive and negative, in our society. Genetic profiling has been beneficial in paternity suits and rape cases, where the father or the assailant could be identified. ….
• Extraction of DNA from onions Sample The intent of the experiment was to see firsthand the isolation of DNA organize a works tissue without destructing its construction and sequence. A white onion was used for the experiment. After several procedures. Deoxyribonucleic acid isolate was ….
• To Protect Genetic Privacy, We Encrypt Our DNA To get started on the discussion of advancing the field of science, we shall first connect the concept of insulating privacy to the studies of science. According to a wired article in 2007, DNA scientist James Watson was the first ever to have his ….
• DNA techniques may be used to correct a point mutation Sample Point mutant is an mistake at a peculiar point on the Deoxyribonucleic acid molecule. Since the alterations occur in DNA. in order to repair the mutant. scientists have to happen out where something went incorrect in the Deoxyribonucleic acid ….
• DNA STRAWBERRY CONCLUSION The hypothesis for this lab is if strawberry DNA is separated from other components, then when it is placed in a insoluble solution the DNA can eventually be isolated. DNA is deoxyribonucleic acid. Its a self replacing material present in all living ….
• A Study About Dna Barcoding Biology Deoxyribonucleic acid barcoding is a molecular tool for the designation of species of beings utilizing a comparatively short DNA sequence from a standard place in the genome. The cytochrome degree Celsius oxidase fractional monetary unit I ( COI ) ….
• Chemistry and Biology: Dna Gel Electrophorosis DNA, Deoxyribonucleic acid, is a double stranded, helical nucleic acid molecule which determines inherited structure of a protein. The “steps” are made of bases: adenine, guanine, cytosine, and thymine. The sides are sugar and phosphate molecules. ….
• Extraction And Quantification Of Dna From Chicken Liver Biology Deoxyribonucleic acid ( DNA ) is the familial stuff in worlds and about all other beings. About every cell in a individual ‘s organic structure has the same DNA. Most Deoxyribonucleic acid is located in the cell karyon ( where it is called atomic ….
• Biology Dna Extraction Extracting DNA from Wheat Germ Cells Criteria to be assessed CE Introduction: DNA is the abbreviation for deoxyribonucleic acid. DNA is found in the nucleus of every cell & it stores the information that makes up living organisms. It is a double ….
• The Dna Molecule Is Often Referred to as “the Blueprint of Life” Deoxyribonucleic acid (DNA) is a vital component of both eukaryotic and prokaryotic cells. A blueprint is a detailed drawing or map which identifies and directs the construction and development of a building or an object. DNA is the hereditary ….
• Meiosis Cell Division And Dna Replication Biology In this experiment we observed the procedure of miosis by looking at different slides. Meiosis is a procedure in which a diploid ( 2n ) parent cell is divided into four haploid ( n ) girl cells. The girl cells have half the figure of chromosomes as ….

✍ Dna Compare and Contrast Essay Topics

• DNA and Evolution – What’s Similar Essay
• DNA and Genealogy Solving Cold Case Murders: The Modern Technology
• DNA as an Evidence From a Crime Scene Report
• DNA as the Secret of Life Research
• DNA Computing And Its Applications Computer Science
• DNA Data Storing
• DNA Databases: Crime Fighting Weapon or Threat to Privacy
• DNA Definition and Its Use by the US Police Research
• DNA Diagnostic Technologies Description Research
• DNA Electrophoresis Lab
• DNA Evidence and Its Use in the US Criminal Law
• DNA Extraction Lab Report
• DNA Fingerprinting as Biotechnology Application
• DNA from Human Cheek Cells
• DNA in Action: Sockeye Salmon Fisheries Management
• DNA in Criminal Investigations
• DNA Profiling and Analysis Interpretation Research
• DNA Profiling and Ethics
• DNA Regulation Bill
• DNA Replication and Cancer Disease
• DNA Replication as a Semiconservative Process
• DNA Replication Transcription and Translation
• DNA Science Technology
• DNA Testing and Database in the UK
• DNA Testing Techniques Research
• DNA Tests in the O.J. Simpson’s Case
• DNA the Master Code for All Living Things

Argumentative Essay Topics About DNA

• DNA Vaccines: Optimization Methods Report
• DNA: Criminal Justice and DNA Term
• Does DNA Profiling Help Justice
• Dr. Michio Kaku’s Predictions of the DNA Screening
• Explore the Ways in Which Bullies and Victims Are Present in Lord of the Flies and DNA
• Exponentials and Logarithms: the Cell and DNA
• Extracting DNA from a Strawberry
• Extracting DNA from Bananas
• Forensic DNA Analysis
• FRET Detection or DNA Molecules
• Genealogy of DNA
• Genome Patterns of Common DNA Variations in Three Human Populations
• Genotoxicity: Damage to DNA and Its Consequences.
• History of DNA
• History of DNA Critical
• Homicide of Lynn Breadon – The First Time in History DNA from a Tooth Was Used to Solve a Criminal Case
• How DNA Technology Are Used in Solving Crimes?
• How does DNA Play A Role In Inheritance?
• How Has DNA Changed the Field of Physical Anthropology? Report
• Importance of Expanding FBI’s Forensic DNA Laboratory
• Indel genotyping161 Automated DNA Extraction using EZ1 Instrument and EZ1 DNA
• Infectious Bacterial Identification From DNA Sequencing Report

Good Essay Topics About DNA

• Innovators Dna Summary
• Introduction Into DNA Studies
• Is Criminal Behavior Learned or Does Your Dna Already Predispose You at Birth to Criminal Behavior?
• Justice and DNA as a Key Witness
• Meiosis and Splitting of the Dna Into Gametes Research
• Methods of DNA Isolation
• Modern Technology in DNA and Genealogy Solving Cold Case Murders
• Molecular Components of the DNA Molecule Report
• Moral and Ethical Issues of Recombinant DNA Technology
• Mutations in DNA
• Newer Laboratory Research Studying DNA and Albinism
• Next Generation DNA Sequencing Technologies Biology
• Obtaining a DNA Sample Legally
• Onion DNA Extraction
• Organizational DNA Analysis Evaluation
• Oswald T. Avery and the Discovery of the DNA
• Physico-Chemical Properties of DNA
• Post Conviction DNA Testing Research
• Protein Synthesis in DNA Processes
• Recombinant DNA technology
• Recombinant DNA Technology and pGLO Plasmid Use Report
• Restriction Endonuclease Digestion of Plasmid DNA
• Restriction of Lambda DNA in the Laboratory

Persuasive Essay Topics About DNA

• Review of The Process of DNA Extraction
• Roles of Microbes in DNA Research
• Rosalind Franklin and Her Discovery of DNA
• Scottish DNA Database
• Sleep Helps to Repair Damaged DNA in Neurons
• Strawberry Dna Extraction and Quantitative Hypothesis Development
• Strawberry DNA Extraction Lab Formal Write Up
• Study on Ht DNA
• Technology Effecting DNA
• The Concept of DNA Cloning Research
• The Discovery of DNA
• The DNA Extraction Procedure: Scientific Experiment Report
• The DNA of Life: College Admission Essay Sample
• The E.Z.N.A Commercial Kit: Soil DNA Extraction Optimisation Report
• The Impact of Pressure and Its Effects on The Amount and Quality of DNA Deposited by Touch
• The Innocence Project, Habib Wahir’s Case: DNA Testing
• The Main Objective of DNA Fingerprinting in Agriculture
• The Mixture of Wolf and Dog DNA Through Genetic Modification
• The Role of The Forensic DNA Analysis
• The Use of DNA Technology in the O. J. Simpson’s Murder Trial
• Theoretical Band-gap Tunneling States of DNA Structures
• Translation of the DNA code
• What is DNA and How Does it Work?
• What is DNA Forensic
• Wildlife Forensic DNA Laboratory and Its Risks Report

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Guest Essay

Step Aside, DNA. RNA Has Arrived.

By Thomas Cech

Dr. Cech is a biochemist and the author of the forthcoming book “The Catalyst: RNA and the Quest to Unlock Life’s Deepest Secrets,” from which this essay is adapted.

From E=mc² to splitting the atom to the invention of the transistor, the first half of the 20th century was dominated by breakthroughs in physics.

Then, in the early 1950s, biology began to nudge physics out of the scientific spotlight — and when I say “biology,” what I really mean is DNA. The momentous discovery of the DNA double helix in 1953 more or less ushered in a new era in science that culminated in the Human Genome Project, completed in 2003, which decoded all of our DNA into a biological blueprint of humankind.

DNA has received an immense amount of attention. And while the double helix was certainly groundbreaking in its time, the current generation of scientific history will be defined by a different (and, until recently, lesser-known) molecule — one that I believe will play an even bigger role in furthering our understanding of human life: RNA.

You may remember learning about RNA (ribonucleic acid) back in your high school biology class as the messenger that carries information stored in DNA to instruct the formation of proteins. Such messenger RNA, mRNA for short, recently entered the mainstream conversation thanks to the role they played in the Covid-19 vaccines. But RNA is much more than a messenger, as critical as that function may be.

Other types of RNA, called “noncoding” RNAs, are a tiny biological powerhouse that can help to treat and cure deadly diseases, unlock the potential of the human genome and solve one of the most enduring mysteries of science: explaining the origins of all life on our planet.

Though it is a linchpin of every living thing on Earth, RNA was misunderstood and underappreciated for decades — often dismissed as nothing more than a biochemical backup singer, slaving away in obscurity in the shadows of the diva, DNA. I know that firsthand: I was slaving away in obscurity on its behalf.

In the early 1980s, when I was much younger and most of the promise of RNA was still unimagined, I set up my lab at the University of Colorado, Boulder. After two years of false leads and frustration, my research group discovered that the RNA we’d been studying had catalytic power. This means that the RNA could cut and join biochemical bonds all by itself — the sort of activity that had been thought to be the sole purview of protein enzymes. This gave us a tantalizing glimpse at our deepest origins: If RNA could both hold information and orchestrate the assembly of molecules, it was very likely that the first living things to spring out of the primordial ooze were RNA-based organisms.

That breakthrough at my lab — along with independent observations of RNA catalysis by Sidney Altman at Yale — was recognized with a Nobel Prize in 1989. The attention generated by the prize helped lead to an efflorescence of research that continued to expand our idea of what RNA could do.

In recent years, our understanding of RNA has begun to advance even more rapidly. Since 2000, RNA-related breakthroughs have led to 11 Nobel Prizes. In the same period, the number of scientific journal articles and patents generated annually by RNA research has quadrupled. There are more than 400 RNA-based drugs in development, beyond the ones that are already in use. And in 2022 alone, more than $1 billion in private equity funds was invested in biotechnology start-ups to explore frontiers in RNA research.

What’s driving the RNA age is this molecule’s dazzling versatility. Yes, RNA can store genetic information, just like DNA. As a case in point, many of the viruses (from influenza to Ebola to SARS-CoV-2) that plague us don’t bother with DNA at all; their genes are made of RNA, which suits them perfectly well. But storing information is only the first chapter in RNA’s playbook.

Unlike DNA, RNA plays numerous active roles in living cells. It acts as an enzyme, splicing and dicing other RNA molecules or assembling proteins — the stuff of which all life is built — from amino acid building blocks. It keeps stem cells active and forestalls aging by building out the DNA at the ends of our chromosomes.

RNA discoveries have led to new therapies, such as the use of antisense RNA to help treat children afflicted with the devastating disease spinal muscular atrophy. The mRNA vaccines, which saved millions of lives during the Covid pandemic, are being reformulated to attack other diseases, including some cancers . RNA research may also be helping us rewrite the future; the genetic scissors that give CRISPR its breathtaking power to edit genes are guided to their sites of action by RNAs.

Although most scientists now agree on RNA's bright promise, we are still only beginning to unlock its potential. Consider, for instance, that some 75 percent of the human genome consists of dark matter that is copied into RNAs of unknown function. While some researchers have dismissed this dark matter as junk or noise, I expect it will be the source of even more exciting breakthroughs.

We don’t know yet how many of these possibilities will prove true. But if the past 40 years of research have taught me anything, it is never to underestimate this little molecule. The age of RNA is just getting started.

Thomas Cech is a biochemist at the University of Colorado, Boulder; a recipient of the Nobel Prize in Chemistry in 1989 for his work with RNA; and the author of “The Catalyst: RNA and the Quest to Unlock Life’s Deepest Secrets,” from which this essay is adapted.

The Times is committed to publishing a diversity of letters to the editor. We’d like to hear what you think about this or any of our articles. Here are some tips . And here’s our email: [email protected] .

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“Book of Mormon and DNA Studies,” Gospel Topics Essays (2016)

“Book of Mormon and DNA Studies,” Gospel Topics Essays

Book of Mormon and DNA Studies

The Church of Jesus Christ of Latter-day Saints affirms that the Book of Mormon is a volume of sacred scripture comparable to the Bible . It contains a record of God’s dealings with three groups of people who migrated from the Near East or West Asia to the Americas hundreds of years before the arrival of Europeans. 1

Although the primary purpose of the Book of Mormon is more spiritual than historical, some people have wondered whether the migrations it describes are compatible with scientific studies of ancient America. The discussion has centered on the field of population genetics and developments in DNA science. Some have contended that the migrations mentioned in the Book of Mormon did not occur because the majority of DNA identified to date in modern native peoples most closely resembles that of eastern Asian populations. 2

Basic principles of population genetics suggest the need for a more careful approach to the data. The conclusions of genetics, like those of any science, are tentative, and much work remains to be done to fully understand the origins of the native populations of the Americas. Nothing is known about the DNA of Book of Mormon peoples, and even if their genetic profile were known, there are sound scientific reasons that it might remain undetected. For these same reasons, arguments that some defenders of the Book of Mormon make based on DNA studies are also speculative. In short, DNA studies cannot be used decisively to either affirm or reject the historical authenticity of the Book of Mormon.

The Ancestors of the American Indians

The evidence assembled to date suggests that the majority of Native Americans carry largely Asian DNA. 3 Scientists theorize that in an era that predated Book of Mormon accounts, a relatively small group of people migrated from northeast Asia to the Americas by way of a land bridge that connected Siberia to Alaska. 4 These people, scientists say, spread rapidly to fill North and South America and were likely the primary ancestors of modern American Indians. 5

The Book of Mormon provides little direct information about cultural contact between the peoples it describes and others who may have lived nearby. Consequently, most early Latter-day Saints assumed that Near Easterners or West Asians like Jared, Lehi, Mulek, and their companions were the first or the largest or even the only groups to settle the Americas. Building upon this assumption, critics insist that the Book of Mormon does not allow for the presence of other large populations in the Americas and that, therefore, Near Eastern DNA should be easily identifiable among modern native groups.

The Book of Mormon itself, however, does not claim that the peoples it describes were either the predominant or the exclusive inhabitants of the lands they occupied. In fact, cultural and demographic clues in its text hint at the presence of other groups. 6 At the April 1929 general conference, President Anthony W. Ivins of the First Presidency cautioned: “We must be careful in the conclusions that we reach. The Book of Mormon … does not tell us that there was no one here before them [the peoples it describes]. It does not tell us that people did not come after.” 7

Joseph Smith appears to have been open to the idea of migrations other than those described in the Book of Mormon, 8 and many Latter-day Saint leaders and scholars over the past century have found the Book of Mormon account to be fully consistent with the presence of other established populations. 9 The 2006 update to the introduction of the Book of Mormon reflects this understanding by stating that Book of Mormon peoples were “among the ancestors of the American Indians.” 10

Nothing is known about the extent of intermarriage and genetic mixing between Book of Mormon peoples or their descendants and other inhabitants of the Americas, though some mixing appears evident, even during the period covered by the book’s text. 11 What seems clear is that the DNA of Book of Mormon peoples likely represented only a fraction of all DNA in ancient America. Finding and clearly identifying their DNA today may be asking more of the science of population genetics than it is capable of providing.

Understanding the Genetic Evidence

A brief review of the basic principles of genetics will help explain how scientists use DNA to study ancient populations. It will also highlight the difficulty of drawing conclusions about the Book of Mormon from the study of genetics.

DNA—the set of instructions for building and sustaining life—is found in the nucleus of almost every human cell. It is organized in 46 units called chromosomes—23 received from each parent. These chromosomes contain about 3.2 billion instructions. Any two individuals share approximately 99.9 percent of their genetic arrangement, but the thousands of small differences account for the tremendous variation between people.

Genetic variations are introduced through what geneticists call random mutation. Mutations are errors that occur as DNA is copied during the formation of reproductive cells. These mutations accumulate over time as they are passed from generation to generation, resulting in unique genetic profiles. The inheritance pattern of the first 22 pairs of chromosomes (called autosomes) is characterized by continuous shuffling: half of the DNA from both the father and the mother recombine to form the DNA of their children. The 23rd pair of chromosomes determines the gender of a child (XY for a male, XX for a female). Because only males have the Y chromosome, a son inherits this chromosome mostly intact from his father.

Human cells also have DNA in a series of cell components called the mitochondria. Mitochondrial DNA is relatively small—containing approximately 17,000 instructions—and is inherited largely intact from the mother. A mother’s mitochondrial DNA is passed to all of her children, but only her daughters will pass their mitochondrial DNA to the next generation.

Mitochondrial DNA was the first type of DNA to be sequenced and was thus the first that geneticists used to study populations. As technology has improved, analysis of autosomal DNA has allowed geneticists to conduct sophisticated studies involving combinations of multiple genetic markers.

Population geneticists attempt to reconstruct the origins, migrations, and relationships of populations using modern and ancient DNA samples. Examining available data, scientists have identified combinations of mutations that are distinctive of populations in different regions of the world. Unique mitochondrial DNA and Y-chromosome profiles are called haplogroups. 12 Scientists designate these haplogroups with letters of the alphabet. 13

At the present time, scientific consensus holds that the vast majority of Native Americans belong to sub-branches of the Y-chromosome haplogroups C and Q 14 and the mitochondrial DNA haplogroups A, B, C, D, and X, all of which appear to have come to the Americas via migrations from East Asia. 15 Ongoing studies continue to provide new insights that both challenge and confirm previous conclusions. 16 For example, a 2014 study indicates that as much as one-third of Native American DNA may have originated anciently in Europe or West Asia. From this evidence, scientists conclude that some Europeans or West Asians migrated eastward across Asia, mixing with a group that eventually migrated to the Americas millennia before the events described in the Book of Mormon. 17

Additional DNA markers from Europe, West Asia, and Africa exist in the DNA of modern native populations, but it is difficult to determine whether they are the result of migrations that predated Columbus, such as those described in the Book of Mormon, or whether they stem from genetic mixing that occurred after the European conquest. 18 This is due in part to the fact that the “molecular clock” used by scientists to date Y-chromosome and mitochondrial DNA markers is not sufficiently sensitive to pinpoint the timing of migrations that occurred as recently as a few hundred or even a few thousand years ago. 19 Moreover, no molecular clock is currently available for complete genomes.

Scientists do not rule out the possibility of additional, small-scale migrations to the Americas. 20 For example, a 2010 genetic analysis of a well-preserved 4,000-year-old Paleo-Eskimo in Greenland led scientists to hypothesize that a group of people besides those from East Asia had migrated to the Americas. 21 Commenting on this study, population geneticist Marcus Feldman of Stanford University said: “Models that suggest a single one-time migration are generally regarded as idealized systems. … There may have been small amounts of migrations going on for millennia.” 22

The Founder Effect

One reason it is difficult to use DNA evidence to draw definite conclusions about Book of Mormon peoples is that nothing is known about the DNA that Lehi, Sariah, Ishmael, and others brought to the Americas. Even if geneticists had a database of the DNA that now exists among all modern American Indian groups, it would be impossible to know exactly what to search for. It is possible that each member of the emigrating parties described in the Book of Mormon had DNA typical of the Near East, but it is likewise possible that some of them carried DNA more typical of other regions. In this case, their descendants might inherit a genetic profile that would be unexpected given their family’s place of origin. This phenomenon is called the founder effect.

Consider the case of Dr. Ugo A. Perego, a Latter-day Saint population geneticist. His genealogy confirms that he is a multigeneration Italian, but the DNA of his paternal genetic lineage is from a branch of the Asian/Native American haplogroup C. This likely means that, somewhere along the line, a migratory event from Asia to Europe led to the introduction of DNA atypical of Perego’s place of origin. 23 If Perego and his family were to colonize an isolated landmass, future geneticists conducting a study of his descendants’ Y chromosomes might conclude that the original settlers of that landmass were from Asia rather than Italy. This hypothetical story shows that conclusions about the genetics of a population must be informed by a clear understanding of the DNA of the population’s founders. In the case of the Book of Mormon, clear information of that kind is unavailable.

Population Bottleneck and Genetic Drift

The difficulties do not end with the founder effect. Even if it were known with a high degree of certainty that the emigrants described in the Book of Mormon had what might be considered typically Near Eastern DNA, it is quite possible that their DNA markers did not survive the intervening centuries. Principles well known to scientists, including population bottleneck and genetic drift, often lead to the loss of genetic markers or make those markers nearly impossible to detect.

Population Bottleneck

Population bottleneck is the loss of genetic variation that occurs when a natural disaster, epidemic disease, massive war, or other calamity results in the death of a substantial part of a population. These events may severely reduce or totally eliminate certain genetic profiles. In such cases, a population may regain genetic diversity over time through mutation, but much of the diversity that previously existed is irretrievably lost.

Illustration of population bottleneck. Due to a dramatic reduction in population, some genetic profiles (represented here by the yellow, orange, green, and purple circles) are lost. Subsequent generations inherit only the DNA of the survivors.

In addition to the catastrophic war at the end of the Book of Mormon, the European conquest of the Americas in the 15th and 16th centuries touched off just such a cataclysmic chain of events. As a result of war and the spread of disease, many Native American groups experienced devastating population losses. 24 One molecular anthropologist observed that the conquest “squeezed the entire Amerindian population through a genetic bottleneck.” He concluded, “This population reduction has forever altered the genetics of the surviving groups, thus complicating any attempts at reconstructing the pre-Columbian genetic structure of most New World groups.” 25

Genetic Drift

Genetic drift is the gradual loss of genetic markers in small populations due to random events. A simple illustration is often used to teach this concept:

Fill a jar with 20 marbles—10 red, 10 blue. The jar represents a population, and the marbles represent people with different genetic profiles. Draw a marble at random from this population, record its color, and place it back in the jar. Each draw represents the birth of a child. Draw 20 times to simulate a new generation within the population. The second generation could have an equal number of each color, but more likely it will have an uneven number of the two colors.

Before you draw a third generation, adjust the proportion of each color in the jar to reflect the new mix of genetic profiles in the gene pool. As you continue drawing, the now-uneven mix will lead to ever more frequent draws of the dominant color. Over several generations, this “drift” toward one color will almost certainly result in the disappearance of the other color.

Illustration of genetic drift using colored marbles.

This exercise illustrates the inheritance pattern of genetic material over the course of several generations and shows how drift can result in the loss of genetic profiles. The effect of drift is especially pronounced in small, isolated populations or in cases where a small group carrying a distinct genetic profile intermingles with a much larger population of a different lineage.

A study in Iceland combining both genetic and genealogical data demonstrates that the majority of people living in that country today inherited mitochondrial DNA from just a small percentage of the people who lived there only 300 years ago. 26 The mitochondrial DNA of the majority of Icelanders living at that time simply did not survive the random effects of drift. It is conceivable that much of the DNA of Book of Mormon peoples did not survive for the same reason.

Genetic drift particularly affects mitochondrial DNA and Y-chromosome DNA, but it also leads to the loss of variation in autosomal DNA. When a small population mixes with a large one, combinations of autosomal markers typical of the smaller group become rapidly overwhelmed or swamped by those of the larger. The smaller group’s markers soon become rare in the combined population and may go extinct due to the effects of genetic drift and bottlenecks as described above. Moreover, the shuffling and recombination of autosomal DNA from generation to generation produces new combinations of markers in which the predominant genetic signal comes from the larger original population. This can make the combinations of markers characteristic of the smaller group so diluted that they cannot be reliably identified.

The authors of a 2008 paper in the American Journal of Physical Anthropology summarized the impact of these forces succinctly: “Genetic drift has been a significant force [on Native American genetics], and together with a major population crash after European contact, has altered haplogroup frequencies and caused the loss of many haplotypes.” 27 Genetic profiles may be entirely lost, and combinations that once existed may become so diluted that they are difficult to detect. Thus, portions of a population may in fact be related genealogically to an individual or group but not have DNA that can be identified as belonging to those ancestors. In other words, Native Americans whose ancestors include Book of Mormon peoples may not be able to confirm that relationship using their DNA. 28

Much as critics and defenders of the Book of Mormon would like to use DNA studies to support their views, the evidence is simply inconclusive. Nothing is known about the DNA of Book of Mormon peoples. Even if such information were known, processes such as population bottleneck, genetic drift, and post-Columbian immigration from West Eurasia make it unlikely that their DNA could be detected today. As Elder Dallin H. Oaks of the Quorum of the Twelve Apostles observed, “It is our position that secular evidence can neither prove nor disprove the authenticity of the Book of Mormon.” 29

Book of Mormon record keepers were primarily concerned with conveying religious truths and preserving the spiritual heritage of their people. They prayed that, in spite of the prophesied destruction of most of their people, their record would be preserved and one day help restore a knowledge of the fulness of the gospel of Jesus Christ . Their promise to all who study the book “with a sincere heart, with real intent, having faith in Christ,” is that God “will manifest the truth of it unto you, by the power of the Holy Ghost.” 30 For countless individuals who have applied this test of the book’s authenticity, the Book of Mormon stands as a volume of sacred scripture with the power to bring them closer to Jesus Christ .