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341 Genetics Essay Topic Ideas & Examples

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• Genetically Modified Food Essay In spite of the perceived benefits of genetic engineering technology in the agricultural sector, the production and use of genetically modified foods has triggered a number of issues pertaining to safety and consequences of consumption.
• The Study of Genetics: Importance for Society A key advantage of genetics for the clinical environment is the real possibility of manipulating the genetic code of a patient’s DNA in order to edit it.
• Mendelian Corn Genetics: An Experiment Seeds are then sorted out on the basis of their color and shape and the obtained data recorded adjacent to the respective phenotypes. Determine the 2 value for each experiment, and use the table of […]
• Is Genetically Engineered Food the Solution to the World’s Hunger Problems? However, the acceptance of GMO’s as the solution to the world’s food problem is not unanimously and there is still a multitude of opposition and suspicion of their use.
• The Genetic Algorithm: Automatic Examination Timetable Scheduling Phenotype, on the other hand, represents the population in the search space corresponding to reality or a representation of the solutions through corresponding absolute values.
• Genetic Disorders: Causes and Treatment The individual inherits some of the characteristics from the mother and the rest is inherited from the father. Genetic disorders may be passed from the parents to the offspring’s during the process of fertilization.
• The role of genetics in development In this case, the dominant gene will win over the recessive gene, and the child may exhibit the characteristics of a parent who produced dominant genes.
• Genetic Technology Integrated in Modern Society​ The recombinant DNA technique has a variety of uses and has enabled the development of novel enzymes that are well-suited for usage in particular food processing settings.
• Bisexuality: Genetics and Effects of the Sexual Behavior A homosexual is a person who is attracted to people of the same gender either physically, emotionally or sexually. Heterosexuals are people who are attracted physically, emotionally, and sexually to people of the opposite sex.
• Human Genetic Engineering: Key Principles and Issues There are many options for the development of events in the field of genetic engineering, and not all of them have been studied. To conclude, human genetic engineering is one of the major medical breakthroughs, […]
• Genetics of Human Social Behavior Twin study method addresses questions such as what effects do environmental factors have on the twin similarities and twin differences.study which stands for Genome wide association is a method that seeks to establish the components […]
• Watching Television: Genetic Influence This can be testified by the manner the research question correlates to the dynamics of examining why watching TV has such a huge influence on genetics.
• Achondroplasia Genetic Disorder: Pedigree The pedigree problem is generally featured with the necessity to provide the correct connections among the family members in a genetic history chart.
• Criminal Behavior: Role of Environment and Genetics In the Information age where a person has access to more knowledge about the folly of being involved in criminal activities and the negative impact of having a prison record, it is a mystery why […]
• Growing GMO Seeds: Monsanto Corporation This paper analyzes Monsanto’s case by focusing on the company’s ethical culture, the costs and benefits of growing genetically modified seeds, and the management of harm caused to plants and animals.
• Genetic Testing: Advantages and Disadvantages At the same time, I acknowledge all the benefits that genetic testing can bring in terms of diagnosing a wide range of diseases and conditions.
• Marfan Syndrome in Genetic Counseling The two generation hierarchies above and one generation hierarchy below the Anne’s generation was pooled and presented in the chart as below: Firstly, the typical clinical symptoms attributed to MFS were sorted from the description […]
• Should All Genetically Modified Foods Be Labeled? According to this scholar, members of the public are always comfortable with the idea of not labeling the genetically modified food.
• Influence of Genetic Factors on Personality Heritability of personality is one of the most contentious issues in the field of modern psychology. Overall, the use of general personality characteristics in the analysis of twins compromises the reliability of evidence.
• Mitochondrial Diseases Treatment Through Genetic Engineering Any disorders and abnormalities in the development of mitochondrial genetic information can lead to the dysfunction of these organelles, which in turn affects the efficiency of intracellular ATP production during the process of cellular respiration.
• Preimplantation Genetic Diagnosis and Manipulation The promise of such disease reduction measures may inspire propositions from minorities in ECOSOC to advocate for PGD’s accessibility and investment in research.
• Aspects of the Genetic Enhancement Genetic enhancement means using genetic editing technologies to introduce changes into the genome of the fetus to achieve improvements in the physical or mental health of the future child.
• Patenting of Genetic Information Completing the sequencing of the nucleic acid sequence of the human genome led to the mass patenting of genes in the United States.
• Genetic Engineering: Is It Ethical to Manipulate Life? In the case of more complex operations, genetic engineering can edit existing genes to turn on or off the synthesis of a particular protein in the organism from which the gene was taken.
• Cystic Fibrosis: A Comprehensive Overview of the Genetic Causes and Pathophysiology In the development of cystic fibrosis, three main points are leading: lesions of the external secretion glands, changes in the connective tissue, and water and electrolyte disorders.
• Genetic and Environmental Impact of the Chornobyl Disaster The ecological impact of the explosion on the lands surrounding Chornobyl comes first. Chornobyl remains the worst in human history due to radioactive contamination.
• Genetics and Antipsychotics: Usefulness of Pharmacogenetic Analysis The response to antipsychotics can be observed as complex phenotypes, a combination of genetic and clinical elements, and symptoms that vary in severity as well as in adherence level.
• Crop Genetic Erosion: Understanding and Responding to Loss of Crop Diversity The recombining and shuffling of genes are expected to create more complexity and increase the capacity of the species to survive in the changing world.
• Can the Human Race Survive Without Genetically Modified Food? Although genetically modified food is a recent invention, the humankind will be unable to survive without it due to the rise in the global population.
• Children’s Temperament and Personality: Genetic Basis Biology is seen to play a major role in influencing children’s temperaments and personality traits, with outcomes being a result of genetic determination.
• The Morality of Prenatal Genetic Screening Most of the time, “genetic screening has been more associated with this option in the collective mental, rather than the possibility to better address a specific condition, leading to the complex discussion of an ethical […]
• Genetically Modified Organisms: Benefit or Harm? In other words, scientists may choose the DNA of the foods that some individuals may be allergic to, which can be harmful if they eat GMO crops.
• Experimentation in Inheritance and Genetics Eventually, a solution to the problem of development not referring to the cytoplasm was reached. In this regard, it is evident that experimentation plays a central part in the history of inheritance and genetics.
• Breast Cancer as a Genetic Red Flag It is important to note that the genetic red flags in Figure 1 depicted above include heart disease, hypertension, and breast cancer.
• T. Dobzhansky’s Input to Synthesis in Genetics One of the chapters titled “Dobzhansky, Waddington, and Schmalhausen: Embryology and the Modern Synthesis” discusses his views on the evolutionary theories of Schmalhausen and Waddington.
• Role of Nutritional Genetics in Health In the recent past, there has been a heightened interest in applying genomic technologies to comprehend the role of diet in disease development and health.
• Historical Development of Embryology and Epigenetics The theory of preformationism was widely recognized from the late 17th to the end of the 18th century. This concept proposed the occurrence of the generation of offspring due to the unfolding and development of […]
• Ethical Analysis: Preimplantation Genetic Diagnosis Furthermore, it is imperative to ascertain the goals of the therapy and the probability of achieving success. The last step in this model of decision-making is acting.
• Genetic Mutation and Noonan Syndrome In general, the more nucleotide sequences that are impacted by a change, the more significant the impact of the conversion and the greater the likelihood that the mutation would be harmful.
• Genetically Modified Organisms (GMOs) in Food Production Thus, in case of GMOs, it is necessary to acknowledge the internal motivations and character in people that adhere to this type of food production.
• Aspects and Characteristics of Epigenetics In addition, the value of this source is that it shows the relationship between epigenetics and the occurrence of abnormalities such as diabetes and obesity.
• Genetic Counseling, Its Role, and Candidates In such cases, the benefits of such testing can be better explained to enable other family members to be tested and determine any other possible genetic problems.
• International Bioethics and Genetics Genetic discrimination is a problem of bioethical significance in which a patient’s confidential rights are violated to create favorable conditions on the part of the person or company who is the subject of the discriminatory […]
• The Ethical Dimensions of Genetic Testing If there is a hereditary condition that runs in the family, a DNA test can detect the presence of such conditions.
• Breast Cancer: Genetics and Malignancy In the presence of such conditions, the formation of atypical cells is possible in the mammary gland. In the described case, this aspect is the most significant since it includes various details of the patient’s […]
• Genetically Modified Organisms: Ethical Perspective Of course, some use the deontological approach and state that it is simply wrong to interfere with genetic codes as it is the divine domain.
• The Ethics of Genetic Modification In particular, the discussion of genetic modifications circulates around the possibilities of human embryo modifications and ethical considerations of the consequences of such experiments.
• Researching the Concept of Epigenetics When it comes to the considerations of epigenetics in terms of a disease for which an individual is at high risk, it is necessary to consider family history as well as environmental factors that add […]
• Genetics and Genomics in Healthcare Development The fourth dwells on the global utilization of genetics and genomics research while the fifth is an analysis of the influence of various factors on the utilization of genomics and genetics in healthcare.
• Genetic Disease in a Pregnant Woman and Fetus The patient should consider the relationship between oncogenesis and pregnancy and consider folic acid to maintain birth defects. Folic acid is a common supplement during pregnancy to make new cells and prevent the development of […]
• Triplet Nature of the Genetic Code One of the assumptions of molecular biology from an evolutionary perspective is that the triplet nature of the genetic code is a traditional form of two-nucleotide coding.
• Epigenetics: Analysis of Article Based on the completed family history assessment, I would not wholly link my risk metric to the outcome of the investigation and infer that I am vulnerable to the above-identified conditions. The outcome could be […]
• Idea of “Designer Babies” and Genetic Manipulations To date, the idea of “designer babies,” which claims that it is possible to alter the genes of the embryo, carrying out specific genetic manipulations, is becoming pretty popular but needs to be explored more.
• The Role of Genetics and Diet of Acne in Teenagers It is significant that the number of relapses, the duration of the course of therapy, and the increase in the number of patients with moderate and severe forms of acne directly depend on the adherence […]
• Examination of Albinism Genetic Disease In the majority of albinos, the lack of melanin leads to such symptoms as the absence of pigmentation in skin and hair.
• Gene Therapy and Genetic Enhancement On the other hand, genetic enhancement targets modifying the genes to augment the aptitudes of an organism outside the ordinary. Somatic gene editing impacts the cells of an individual under treatment and it is inherited […]
• The Reasons for Genetic Counseling According to Abacan, “genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease”.
• Kidney Stones and Patient’s Genetics and Epigenetics Citrate inhibits the development of kidney stones through the formation of calcium citrate complexes thereby preventing the formation of insoluble crystals.
• Cloning: Genetically Identical Copy The clone develops in the womb and eventually, the adult female gives birth, with the new clone having an identical genetic makeup to the organism from which the somatic cell originated.
• Down Syndrome Genetics and Behaviors Using current research literature on behavioral issues and novel treatments for Down syndrome, this paper explores and discusses behavioral inflexibility, restrictive and repetitive behaviors, and Down syndrome’s neurogenetic nature.
• Genetics: Only Girls Born in Miejsce Odrzanskie, Poland However, it may also be necessary to understand the limitations of such a study and consider the possibility of a coincidence.
• Mitosis and Genetic Makeup of Different Species As the centromeres of a cell align among the spindle equator, the genetic material of the maternal cell is duplicated, which allows for the two daughter cells to emerge.
• ZIP Code Prevails Over Genetic Code One of the health determinants is diet, which depends directly on the climate a person lives in and the scope of food products they can afford.
• Genetic Modification and Cloning Even though it is hard to predict all the outcomes of genetic modification and cloning, I would suggest using CRISPR Cas9 in treating retinal diseases such as the one described in the case study.
• Color Blindness and Its Genetic Nature Nevertheless, color blindness genes may be carried by the non-color-blind female and transferred to future generations. Depending on the mutation, inherited color blindness may be congenital or may reveal itself in childhood or adulthood.
• Genetic Modifications of Human and Animal Species As for the genetic modification of animals and insects, it can also be beneficial. In the case of humans, there must also be clear boundaries for modification.
• Environmental and Genetic Factors That Influence Health The factors of inaccessibility of proper treatment, poor lifestyle, and environmental agents’ exposure combined with the costs of addressing the CKD challenge lead to disparities in populations.
• Genetic and Genomic Technology Positive results mean that a patient has been diagnosed with the disease, and so treatment is essential to ensure the patient’s good health.
• SCN8A-Related Epilepsy – Genetic Seizure Disorder The paper contains the discussion of the standardized procedure for this diagnosis, suggests how the present experience would affect the medical practice concerning this kind of epilepsy.
• Molecular Genetics: Gene Sequence Homology The emergence of the Mendelian genetics in the 19th century and the discovery of DNA structure by James Watson and Francis Crick in the 20th century have paved the way for the development of molecular […]
• Genetic Testing: Screening for Colon Cancer This disorder is characterized by the development of hundreds of thousands of adenomatous polyps in the colon and rectum early in life.
• 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.
• The Relationship Between Epigenetics and the Effects of the Holocaust Tests are most likely to identify existing changes of DNA and the proteins related to DNA, which are responsible for the structure of the DNA and the availability of other elements related to the DNA.
• Acute Myeloid Leukemia: Genetic Features of Black Patients According to the researcher, the differences in the biological impact of disease and the socioeconomic factors play a crucial role in the disparity between the Blacks and the Whites in the recovery process.
• Genetically Modified Food: Health Risks The main research question of the future study for me as a person with 1st Degree in Food and Nutrition will be the question of the harm of eating genetically modified foods and the possible […]
• Barlow’s Syndrome: Genetics of Mitral Valve Prolapse and Its Clinical Impact For the patients with mitral valve prolapse experiencing the episodes of tachycardia and rapid heartbeats the use of beta-blockers is allowed. The patient should be allowed to share their concerns and feelings about the mitral […]
• The Development of the Neural System and Genetic Program In the process of determining the connections worth keeping, a person’s brain takes into account their lived experiences and daily life, which in turn shape the direction of a person’s neural growth.
• Genetic Disorder: “A Genetic Link to Anorexia” The author effectively proves that the development of anorexia nervosa may occur not only due to the exposure to the social pressure of beauty standards, but also the presence of a genetic predisposition.
• Genetic Enhancement: Ethical Aspect In addition, it can take the shape of cosmetic modifications, which change the overall basis of human uniqueness and the unalterable aspect of the human body.
• Genetic Modification and Implicit Bias Against People With Disabilities There is also a factor of disabilities that are life-threatening to a child, or illnesses that may be able to be fatal within the first few years of life.
• Biotechnology and Genetic Engineering Apart from that, there are some experiments that cannot be ethically justified, at least in my opinion, for example, the cloning of human being or the attempts to find the gene for genius.
• Genetics and Genomics in Healthcare The first phase was used to determine the suitability of the survey tool while the main survey led to the collection of the desired data.
• Genetics, Reproductive and Cloning Technology in “Frankenstein” If Mary Shelley was for the idea of cloning technology, I think her novel would have ended up with Frankenstein creating a female companion for the monster to compliment the theme of love in the […]
• Genetic Mapping in the United States Genetic mapping is allowed and regulated by the Genetic Information Non-discrimination Act in the United States. On the contrary, genetic mapping of children in the United States can be conducted with the consent of a […]
• 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 Factors That Cause Instances of Genetic Diversity Genetic diversity is a term that is used to refer to the difference in characteristics that occurs among members of the same species.
• Genetic Testing: Should You Bother to Exercise? However, some people are of the view that the effect of genetic variation on exercise-mediated body responses is dismal. This argument is usually based on the idea that several other factors such as diet, lifestyle, […]
• Genetic Screening for Mandatory Obesity Screening of Children The progress in behavioral genetics points to the significance of biological heredity in character traits, as well as in medical conditions. A good example is in the case of cancer where the affected genetic condition […]
• Genetically Modified Food: Analysis and Implications A section of scientists are opposed to the idea with claims that it brings about irreversible damage to biodiversity by changing the natural setting of the environment. Genetic engineering involves alteration of the cell which […]
• Epigenetics of High Fructose Corn Syrup at a Molecular Level Increasing or decreasing the amount of glucose concentration level in the blood, directly affects the concentration of fructose in blood, since they all act as determinants of the overall blood concentration In this case, high […]
• Genetic Engineering in the Movie “Gattaca” by Niccol This would not be right at all since a person should be responsible for their own life and not have it dictated to them as a result of a societal construct created on the basis […]
• Modern East Asians and Denisovans Share Genetic Material The researchers did not explain the specific mode of delivery of the genetic material through hybridization thus it must be assumed that the Denisovans in Siberia were able to travel to Southeast Asia and intermarry […]
• Religious vs Scientific Views on Genetic Engineering With the need to increase the global economy, the field of agriculture is one among the many that have been used to improve the commercial production to take care of the global needs for food […]
• Genetic Counseling – Tay Sachs Disease In this case, there is a 25% likelihood of passing the gene to their children. This would be effective in preventing further passing down of the disease to their offspring.
• Psychiatric Genetics. Epigenetics and Disease Pathology The switching on and off of the imprinted genes is the same regardless of the parental origin. The genome-wide DNA analysis revealed that there was a difference in DNA methylation of the glucocorticoid receptor gene […]
• The Genetics of Crime: ‘Criminal Gene’ The idea that criminal and offending behavior stands in the correlation with the genetic features of the offender is not a novelty of our time.
• Genetic Family Historical Analysis In the family, Andrew is the only member who thinks that his disease is caused by a genetic predisposition. The above implies that Andrew should work closely with his physicians to ensure his therapy is […]
• Genetic Counseling Analysis To take a detailed family history, I would start with gathering the information about the consumers. Finally, I would ask about the members of the family who have already passed away and clarify the cause […]
• Genetic Engineering Using a Pglo Plasmid The objective of this experiment is to understand the process and importance of the genetic transformation of bacteria in real time with the aid of extrachromosomal DNA, alternatively referred to as plasmids.
• Genetic Inheritance and Its Role in Obesity This essay therefore analysis the different formations of obesity, the causes and in particular the significance of inheritance in the occurrence of obesity.
• Managing Diabetes Through Genetic Engineering Genetic engineering refers to the alteration of genetic make-up of an organism through the use of techniques to introduce a new DNA or eliminate a given hereditable material. What is the role of genetic engineering […]
• Genetic Diseases: Sickle Cell Anemia This genetic disorder research paper aims to elucidate the underlying molecular causes of SCA as well as its symptoms, inheritance, treatment, diagnosis, and prevalence in certain populations.
• Genetically Identical Twins and Different Disease Risk The study of MZ twins offers fascinating insights that help researchers explore the link between the sequence of the genotype and the phenotype.
• Genetic Disorders That Can Be Treated With Gene Therapy It is in this context that the application of gene therapy has increased the hope of medical professionals in overcoming and controlling such failures in the treatment of genetic disorders.
• Using Genetically-Modified Bacteria to Fight Cancer at Johns Hopkins To do so, a concise summary of the article will be provided, followed by a review of its relevance to the course.
• Diabetes Mellitus Type 2: The Family Genetic History This paper aims at analyzing family genetic history of a family, evaluating the impact of the family history on an adult participant’s health and planning a future wellness change to promote the wellness of the […]
• Forecast of Genetic Technology Therefore, this essay forecasts the advancement of genetic technology in the 22nd century in aspects of gene therapy and eugenics with the view of assessing its potential benefits and dangers.
• Genetic Male Pattern Baldness Vertex hair loss: Vertex hair loss can be observed on the top of the head which is crown area and does not touch the hairline of the forehead.
• Museum Genetic Presentation When this condition is violated, the population is opened allowing individuals to move from one population to another hence creating a net flow of genes which results to genetic variations and consequently, to evolution.
• Genetic Information in the Trosack Case The purpose of this essay is to integrate genetic information in the Trosack case to ensure that the patients can deal with the genetic basis of the disease in their child.
• The Genetic Basis of Human Cancer This is one of the most difficult in curing, as it may affect any part of the body, and seriously damage the body tissues.
• Advanced Pathophysiology: Genetic Technology In accordance to Tay-Sachs disorder, the specialist is likely to provide the following information: the origin of the disorder, what factors contribute to the occurrence of the disorder, characteristics of the disorder, treatment if available […]
• Effects of the Interaction Genetic Diversity This study though is trying to show the synergism between the UV-B and low genetic diversity as possible proof of the hypothesis that the UV-B could be the possible cause of declining amphibian populations.
• Biological and Genetic Influences on Criminality Men are twice as likely to be the victim of an assault or a robbery and 50 percent more likely to experience some crime of theft.
• Genetics of Prostate Cancer and Physical Features However, even though observations attest to the highly hereditary nature of the disease, research in the field so far has proved to be inconclusive, with most scientists failing to isolate the gene or genes which […]
• 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 […]
• Genetic Basis of Fitness Differences in Natural Populations In the article to summarize, the authors recognized that one way genomics affect biology is the possibility of identifying and studying how the characteristics affecting fitness, a key issue in natural selection, are genetically based.
• Computational Modelling and Genetic Regulatory Networks Analysis in Development The studies also include the control of transcription and the mechanisms of RNA maturation. The key determinants of cell fate are the transcription factors.
• Biotechnology and Animal Welfare: How Genetically Modified Chicken Serves the Demand in Fast Food Chains Beef was the most often used meat for the restaurants due to its containing in burgers, however, in 2020, the tendency started to move in the direction of chicken consumption.
• Breast Cancer Risk Factors: Genetic and Nutritional Influences However, the problems of genetics contribute to the identification of this disease, since the essence of the problem requires constant monitoring of the state of the mammary glands to detect cancer at an early stage.
• Breast Cancer Genetics & Chromosomal Analysis In this paper, the chromosomal analysis of breast cancer will be assessed, and the causes of the disorder will be detailed.
• The Role Genetics Information Plays in Treating Cancer Another process that also causes the disease to develop is called gene amplification and refers to the situation of the emergence of multiple copies of the same gene.
• Ethical Issues on Genetic Modified Baby: CRISPR-Ca9 Genetic Modification The discussion presented below gives a detailed analysis of the subject of genetically modified babies and the ethical values associated with the entire scientific process.
• Biotechnology, Genetics and Reproduction On the one hand, this is an opportunity to become parents for infertile couples, on the other hand, the ART industry acts as a new type of business and, therefore, we can talk about the […]
• Leukemia Types: Characteristics, Genetics, and Symptoms Leukemia is widely referred to as a group of blood cancers and is classified by the type of white blood cells and by the rate of disease progression over time.
• Genetic Manipulation of Human Embryos: Bioethical Issues Nonetheless, although the modification of human genotype may help in achieving a perfect genetic composition and eliminate a number of genetically transmitted diseases, there is a looming risk. The assembling of genetic makeup to enhance […]
• Genetics of Sexual Orientation: Privacy, Discrimination, and Social Engineering The study tested the DNA of 400 gays and established a section of the X chromosome called Xq28. The outcome of the research is not limited to the research team only.
• Genetics as a Field and Its Practical Use Even in newborn screening, an area where genetic testing is excelling, parents opt to terminate the pregnancy for lack of a better solution to their condition.
• Clinical and Genetic Aspects of Neurofibromatosis Neurofibromatosis is an autosomal dominant genetic disorder that is caused by a mutation of a gene and characterized by a growth of tumors in nerves which may affect the structure of bones and skin conditions.
• Genome: Bioethics and Genetic Engineering Additionally, towards the end of the documentary, the narrator and some of the interviewed individuals explain the problem of anonymity that is also related to genetic manipulations.
• Researching the Genetic Enhancement: Unethical Practice and Social Norms One of the challenges that have emerged with the advent of genetic enhancement is the inability to ensure that all people have access to the technology.
• The Interrelationships and Implications of Genetic Discoveries In addition to this, the new sub-discipline comes with the ability to illuminate controversial topics within the field of medical sociology such as stem cell research and analysis of the interrelationships in human embryo and […]
• Yeast Genetics and Complementation Lab Report In this study, the crossing of two mutants led to the development of phenotypic traits which are nothing but the colors, red or cream.
• Genetic Predisposition to Alcohol: The Appreciation and Therapy for Alcoholism Through family studies it has been established that the likelihood of alcohol dependence and similar complications happening is more in the families of the individuals who have been affected as compared to in the people […]
• Epigenetics Influence on Adopted Embryos The exciting news is the role of epigenetics or influence of the adoptive mother’s body has on the DNA of the embryo as it grows using the mother’s nourishment, energy, and systems.
• Genetically Modified Organisms: For and Against The fact is that, genetic modification is the changing of the DNA code by the means of the genetic engineering, thus, the genes of the organisms are deviating from the normal genes of similar organisms, […]
• Ethical Problem of Genetic Testing and Chromosomal Abnormalities The testing can also be done to diagnose the genetic disorder, detecting future risks of contracting diseases as a result of genetic disorders, how these disorders respond to drugs, and detecting the extent of risks […]
• Unlocking Human Genome: Genetic Testing and Screening In the case of 64 year old Joe Miller, I recognize and understand that the patient has the right to die with dignity and that that includes dying on his own terms.
• Genetic Difference in Explaining Athletic Performance Thus, St Louis argues that science on race and sports is not viable as it limits the explanation to physiological factors ignoring the importance of social and economic variables.
• Anderson and Genetic Research, Evolutionism & Creationism Creationists, for their part, have went on challenging and debating the essential standards of evolutionary biology, by rejecting the notion that progress is the only believable elucidation of the origin of life and modification in […]
• Genes and Environment: Genetic Factors and Issues Analysis Even at the very beginning when the egg combines with the sperm the organism is more then merely the genetic information contained in those parts, the egg contains important nutrients that will interact with the […]
• Genetic Engineering Is Ethically Unacceptable However, the current application of genetic engineering is in the field of medicine particularly to treat various genetic conditions. However, this method of treatment has various consequences to the individual and the society in general.
• Genetic Analysis: Term Definition and Molecular Genetics Experiments A 2 l of the DNA was pipetted from the tube labelled “DNA” to a new tube labeled ” Diluted” to which a 38 l of TE buffer was added and mixed gently.
• Issues of Sharing a Patient’s Genetic Information Parker and Lucassen state that the issue of genetic information of a patient can be viewed through two aspects; Firstly by considering the genetic information of the patient as a ‘Personal Account’ or secondly, to […]
• Ethical Issues Involving Genetic Test Accounts The unlocking of the human genome has opened the basic foundation of human life to the possibility of extensive alterations that, although sounding very promising in the short term, actually poses more of a problem […]
• Genetics: State of Otter Conservation In terms of habitat and diet, this species is opportunistic in nature and has to utilize a wide area of the river so as to meet the metabolic demands of the body.
• Genetic Basis for Alcoholism Further, Genetic studies will help you to understand more about the heritability of alcohol dependence and which will positively help you to explore the correlation of alcoholism to other disorders like major depression.
• Genetically Modified Potato as Hepatitis B Vaccine The thesis presented here is an argument in favor of using genetically modified potatoes in the effective prevention of the deadly hepatitis B virus infection.
• Genetic Predisposition to Breast Cancer: Genetic Testing Their choice to have their first baby later in life and hormonal treatment for symptoms of menopause further increase the risk of breast cancer in women.
• Genetic Testing Under Americans With Disabilities Act There is nothing surprising in the fact that the genetically tested employees counted the testing as a violation of their human rights, and The Americans with Disabilities Act was adopted in 1990.
• Genetic Screening of Newborns and Its Benefits The main goal of neonatal screening is to prevent the development of the disease and thereby save the life of the born baby.
• Evolution of Limbs: Fossil and Genetic Information This study focuses on uncovering and synthesizing evidence which attempts to answer the research question of how fossil and genetic analysis of ancient creatures cumulatively contribute to the understanding of the evolution of limbs.
• Understanding Genetically Modified Foods by Howard et al. One of the major points made in the article is the belief that GMOs can be used to create items that are rich in certain nutrients, which is essential for developing countries.
• Plasmids, Their Characteristics and Role in Genetics Some plasmids, such as the F-plasmid, have the ability to exist in bacterial cells in two states, which are physically independent of the chromosome and integrated with the chromosome.
• Type 2 Diabetes From Cultural and Genetic Aspects Adults in the age range from 45 to 64 years are one of the most affected populations because the possibility of developing type 2 diabetes increases significantly after the age of 45.
• Genetic Testing and Related Health Issues A replication origin is a specific site in a chromosome where the copying of DNA starts. Transcription is the biosynthesis of RNA from a DNA template in a process catalyzed by RNA polymerase.
• Genetics: the Eugenics Movement The eugenics movement resulted in the deaths and sterilizations of thousands of people. Positive eugenics was meant to increase the population of healthy people.
• Genetically Modified Foods and Pesticides for Health There is fear that insects such as bees could bring about the emergence of insects that are resistant to insecticides due to coming in contact with the genetically modified pollen.
• Genetics: “Bad Blood” Educational Series by BBC Some, such as those seen in the case of the people of Japan, seemingly attached a great deal of stigma to the issue of genetic “impurity,” resulting in few marriage prospects for those who were […]
• Genetically Engineered Food Against World Hunger
• Genetic Mapping and Its Social, Ethical, and Legal Implications
• Genetic Factors of Huntington’s Disease Progression
• “Intelligence, Race, and Genetics” by Sternberg et al.
• Genetic and Social Bond Theories in Criminology
• Epigenetics and Its Role in Cancer Detection and Prevention
• The Role of Epigenetics in Cancer: Contributors to the Formation of Cancer Tumors
• Genetics: the Erroneous Concept of Blending Inheritance
• Genetically Modified Foods: Pros and Cons
• Genetic Factors of Speech Coding at the Subcortical Level
• Reproductive and Genetic Technology in Infertility Treatment
• Genetically Modified Foods: Scientific Resources
• Genetically Modified Organisms in Canadian Agriculture
• Genetic Testing Limitation: Ethical Perspective as a Framework
• Huge Ethical Concerns: Human Genetic Creation and the Bible
• Down Syndrome as the Most Common Genetic Condition in the US
• Danville Airlines’ Genetic Testing and Screening
• Concept of Genetic Cross Among Drosophila Melanogaster
• Prostate Cancer, Its Genetics and Prevention Methods
• Biodiversity, Its Evolutionary and Genetic Reasons
• Genetic Testing & Counseling and Their Value
• Abortion: Quality of Life and Genetic Abnormalities
• Ethics of Genetic Testing: Screening and Monitoring
• Advanced Diagnostic Procedures: Genetic Screening Pros and Cons
• Froma Harrop Views on Genetically Modified Food
• Genetics and Sociological Theories
• Nutrition: Is Genetically Modified Food Bad or Good?
• Natural Sciences: Genetics Processes
• GMO Production: Reasons and Potential Effects
• Genetically Modified Foods: Should They Be Consumed?
• Do Our Genes Determine Learning Ability?
• Benefits and Concerns Regarding Genetically Modified Crops
• The Genetics of Alcohol Dependence
• Genetic Experimentation and Development
• Genetic Modification and Testing: Ethical Considerations
• Should Parents Be Allowed to Choose the Characteristics of Their Children Through Genetic Manipulation?
• Privacy in Genetic Testing and Restriction of Access to Own Personal Information
• Schizophrenia Genetic and Environmental Factors
• Ecological Effects of the Release of Genetically Engineered Organisms
• In Vitro Fertilization and Pre-implantation Genetic Diagnosis
• Epidemiology: Genetics-Related Programs
• Advanced Diagnostic Procedures: The Individual Impact of Genetic Diagnosis
• Possible Benefits of New Genetics
• The Effect of Genetically Modified Food on Society and Environment
• Genetically Modified Food of Monsanto Company
• How Do Genetic and Environmental Factors Contribute To The Expression of Depression?
• Genetically Modified Corn in the United States of America
• Genetic and Cultural Differences Are Not Two Opposites
• The Human Genome Project and Its Revolutionary Insight into the Genetic Blue Print of the Human Body
• The Underpinnings of Genetic Diversity – Contribution of Darwin and Vavilov
• Genetically Modified Food and European Consumer Behavior
• Genetically Modified Foods Projects
• The Extent of Genetic Experimentation and Developments
• Genetically Modified Organisms and Controversial Discussions in Australia
• Overview on the Effects of Genetically Modified Food
• Is It Ethical to Abort Based On Genetic Disability?
• The Biotechnology Importance in Genetic Modification
• Can Genetically Modified Food Feed the World: Agricultural and Biotechnological Perspective
• Agriculture and Genetics Disciplines Relationship
• Genetically Modified Foods Negative Aspects
• Analyzing the Prospects of Genetically Modified Foods
• Will Genetically Modified Foods Doom Us All?
• The Specifics of Society Genetic Constitution
• Single Nucleotide Polymorphisms Genetic Epidemiology
• The Evolutionary Genetics of Mycobacterium Tuberculosis
• Genetically Modified Foods and Environment
• The Debate Pertaining to Genetically Modified Food Products
• Is Genetically Modified Food Safe for Human Bodies and the Environment?
• Consumer Judgment on Genetically Modified Foods
• Genetic Alteration of Food Sources: A New Strategy to Improve Food Production
• Business Ethics-Labeling Genetically Modified Food
• Objection to the Production of Genetically Modified Foods
• The Importance of Facial Attractiveness on Genetic Diversity
• Ethical Implication of Human Genetics Research
• Towards Understanding the Causes of Genetic Diversity
• Comparison of Theories of Addiction: The Biological Model and the Genetic Model
• Genetics’ Role in Healthcare of Patents
• The Correlation Between Genetics and Environmental Lifestyle
• The Roles of Genetics and Nurture on People with Dyslexia
• Tourette Syndrome: Symptoms, Causes, and Genetics
• The Relationship between Genetics and Religion
• The Theory Of Inheritance Within The Field Of Genetics
• An Analysis of the Role of Genetics and Environment in Causing Alcoholism
• Understanding the Basics of Genetics and Its Diseases
• Nature, Nurture and Egalitarian Policy: What Can We Learn from Molecular Genetics
• Significance of Discoveries in Genetics and DNA
• Winter Wheat Breeding, Genetics, And Cultivar Development
• The Issue of Genetics and Intelligence in the Article All in the Genes
• The Use of Genetics in Insurance and Impliations
• The Contribution of Family History, Age and Genetics to the Development of Alzheimer’s Disease
• Masters Program With The Department Of Molecular Genetics
• The Development Of Genetics Food Modifying Techniques: Analyzing The Effect Of Continuing Development
• Why Genetics Is Important And A Huge Part Of Our Lives
• Molecular Genetics: Catching the Criminal Using Electrophoresis
• The Importance of Genetics and Individuality in the Formation of a Personality
• How Does Genetics Affect The Achievement Of Food Security
• The Inheritance of Economic Status: Education, Class, and Genetics
• An Overview of the Principles Behind the Genetics and the Biochemical Prosprects
• The Importance Of Mendel’s Laws In Modern Genetics
• The Role of Genetics and Social Structure to the Rising Rate of Homicide in Miami
• The Effects Of Genetics And Environment On Biofilm Growth
• The Ethical Issues Surrounding the Field of Genetics Technology
• The Major Scientific Breakthroughs of Introns and Exons in Genetics
• What Part Do Genetics Play In Autoimmune Diseases
• The Genetics, Structure, Function, And Regulation Of Alpha Amylase
• Ongoing Intelligence Debate and Considerations of Environment, Culture, and Genetics
• The Genetics of Addiction Hereditary or Learned Behaviour
• The New Genetics of Mental Illness by Edmund S. Higgins
• The Importance of Family, Community and Culture Over Genetics and Individual Characteristics in Outliers, a Novel by Malcolm Gladwell
• The Cause of Our Overall Fear and Its Link to Genetics and Evolution Process in Our Fear of Immigrants, an Article by Jeremy Adam Smith
• The Life and Work of Gregor Mendel, the Father of Genetics
• The Establishment of a State Fisheries Genetics Program in Illinois
• Politically Correct Fanatics Their Denial Of Patterns And Genetics Among People
• The Significance of Selective Engineering in Genetics
• Genetics And The Possible Causation Of Autism Spectrum Disorders
• The Evolutionary Factors That Have Shaped The Genetics
• The Engineering Of Human Genetics In Dreams And Nightmares
• The Public and Private Sectors in the Process of Innovation: Theory and Evidence from the Mouse Genetics Revolution
• The Aspects of the Connection between the Environment and Genetics
• An Analysis of Scientific Knowledge About Founder Mutations in Genetics
• James Watson and his Contributions DNA and Genetics
• The Causes of Aging in Humans and the Impact of Genetics and Lifestyle on Age
• Genetics: Alcoholism and Normative Developmental Trajectory
• Is Homosexuality A Personal Choice Or Is It Genetics
• Will Genetics Destroy Sports?
• How Can Drug Metabolism and Transporter Genetics Inform Psychotropic Prescribing?
• Are Gender Roles Defined by Society or by Genetics?
• How Did the Drosophilia Melanogaster Impact Genetics?
• Does Genetics Affect Childhood Obesity?
• How Does Genetics Affect the Achievement of Food Security?
• Can Crop Models Identify Critical Gaps in Genetics, Environment, and Management Interactions?
• How Does Genetics Influence Human Behavior?
• Does Genetics Matter for Disease-Related Stigma?
• How Did Dolly Sheep Change Genetics Forever?
• Is Genetics Responsible for Allergies?
• How Does Genetics Affect Caffeine Tolerance?
• Can Genetics Cause Crime or Are We Presupposed?
• How Does Genetics Affect Child Development?
• Is Genetics Responsible for Mental Illnesses?
• How Do Genetics and Environment Affect a Child’s Behaviors?
• Can Genetics Reveal the Causes and Consequences of Educational Attainment?
• How Do Genetics and the Environment Influence One’s Self-Identity?
• What’s Genetics Engineering?
• How Do Neuroscience and Behavioral Genetics Improve Psychiatric Assessment?
• Why Will Tampering With Our Genetics Be Beneficial?
• How Does the Environment Change Genetics?
• Will Benchtop Sequencers Resolve the Sequencing Trade-off in Plant Genetics?
• Why Is Genetics Important in Real Life?
• How Does Genetics Play a Role in Aging?
• Down Syndrome Topics
• Nature vs Nurture Research Topics
• Biomedicine Essay Topics
• Disorders Ideas
• Animal Ethics Research Ideas
• Discovery Ideas
• Disability Essay Topics
• Gender Inequality Research Topics
• Chicago (A-D)
• Chicago (N-B)

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

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

🧬 TOP 7 Genetics Topics for Presentation 2024

🏆 best genetics essay topics, ❓ genetics research questions, 👍 good genetics research topics & essay examples, 🌟 cool genetics topics for presentation, 🌶️ hot genetics topics to write about, 🔎 current genetic research topics, 🎓 most interesting genetics topics.

• Advantages and Disadvantages of Genetic Testing
• Genetic and Social Behavioral Learning Theories
• Genetics: When Nurture Becomes Nature
• The Importance of Heredity and Genetics
• Genetic Diseases: Hemophilia
• What Is Silencer Rna in Genetics
• The Concept of Epigenetics
• Genomics, Genetics, and Nursing Involvement The terms genomics and genetics refer to the study of genetic material. In many cases, the words are erroneously used interchangeably.
• Relation Between Genetics and Intelligence Intelligence is a mental ability to learn from experience, tackle issues and use knowledge to adapt to new situations and the factor g may access intelligence of a person.
• Cause and Effect of Genetically Modified Food The paper states that better testing should be done on GMOs. It would lead to avoiding catastrophic health issues caused by these foods.
• Genetic Alterations and Cancer The paper will discuss cancer symptoms, causes, diagnosis, treatment, side-effects of treatment, and also its link with a genetic alteration.
• Human Genetics: Multifactorial Traits This essay states that multifactorial traits in human beings are essential for distinguishing individual characteristics in a population.
• Should Parents Have the Right to Choose Their Children Based on Genetics? The right to intervene in the human genome must be reviewed from multiple perspectives, as the future of parenthood and social institutions will depend highly on agreements.
• GMO Use in Brazil and Other Countries The introduction of biotechnology into food production was a milestone. Brazil is one of the countries that are increasingly using GMOs for food production.
• Genetically Modified Food Safety and Benefits Today’s world faces a problem of the shortage of food supplies to feed its growing population. The adoption of GM foods can solve the problem of food shortage in several ways.
• Value of the Epigenetics Epigenetics is a quickly developing field of science that has proven to be practical in medicine. It focuses on changes in gene activity that are not a result of DNA sequence mutations.
• Genetically Modified Organisms: Pros and Cons Genetically modified organisms are organisms that are created after combining DNA from a different species into an organism to come up with a transgenic organism.
• Environmental Ethics in Genetically Modified Organisms The paper discusses genetically modified organisms. Environmental ethics is centered on the ethical dilemmas arising from human interaction with the nonhuman domain.
• Genetically Modified Pineapples and Their Benefits The paper covers the existing benefits of GM pineapples, as well as examples of what could be achieved with this technology.
• Genetic and Environmental Impacts on Teaching Work If students do not adopt learning materials and the fundamentals of the curriculum well, this is a reason for reviewing the current educational regimen.
• Genetic Tests: Pros and Cons Genetic testing is still undergoing transformations and further improvements, so it may be safer to avoid such procedures under certain circumstances.
• Technology of Synthesis of Genetically Modified Insulin The work summarizes the technology for obtaining genetically modified insulin by manipulating the E. coli genome.
• Medical and Psychological Genetic Counseling Genetic counseling is defined as the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.
• Link Between Obesity and Genetics Obesity affects the lives through limitations implemented on the physical activity, associated disorders, and even emotional pressure.
• Genetics and Evolution: Mutation, Selection, Gene Flow and Drift Evolutionary genetics deals with mechanisms that explain the presence and maintenance of traits responsible for genetic variations.
• Exploring ADHD: Genetics, Environment, and Brain Changes Attention deficit hyperactivity disorder is the most prevalent child behavioral disorder characterized by inattention, hyperactivity, and impulsivity.
• Down’s Syndrome as a Genetic Disorder Many people are born with genetic diseases that manifest themselves in one way or another throughout their lives. One of these abnormalities is Down’s syndrome.
• Addiction: Genetic, Environmental, and Psychological Factors Addiction: the role of dopamine and its impact on the brain’s reward system exacerbates addiction and highlights the need for a comprehensive approach.
• Procreative Beneficence: Technological Developments in Genetics Technological developments in genetics have revolutionized procreation by allowing parents to choose the most intelligent genes for their offspring.
• Genetic Technologies for Pathogen Identification The paper states that a genotype represents a set of genes and determines the organism’s phenotype by promoting the development of certain traits.
• Epigenetics as the Phenomenon and Its Examples Epigenetics, or epigenomics, is the study of how the expression of genes that do not presuppose irreversible alterations in the underlying DNA sequence changes.
• Aspects of the Genetic Diseases Genetic diseases are disorders that happen through mutations that occur in the human body. They can be monogenic, multifactorial, and chromosomal.
• Is ADHD Genetically Passed Down to Family Members? Genetic correlations between such qualities as hyperactivity and inattention allowed us to define ADHD as a spectrum disorder rather than a unitary one.
• Alzheimer’s Disease: Genetic Risk and Ethical Considerations Alzheimer’s disease is a neurodegenerative disease that causes brain shrinkage and the death of brain cells. It is the most prevalent form of dementia.
• Behavioral Genetics in “Harry Potter” Books The reverberations of the Theory of Behavioral Genetics permeate the Harry Potter book series, enabling to achieve the comprehension of characters and their behaviors.
• Environmental Impact of Genetically Modified Crop In 1996, the commercial use of genetically modified (GM) crop production techniques had increasingly been accepted by many farmers.
• Gene Transfer and Genetic Engineering Mechanisms This paper discusses gene transfer mechanisms and the different genetic engineering mechanisms. Gene transfer, a natural process, can cause variation in biological features.
• Nutrition: Obesity Pandemic and Genetic Code The environment in which we access the food we consume has changed. Unhealthy foods are cheaper, and there is no motivation to eat healthily.
• Genetics in Diagnosis of Diseases Medical genetics aims to study the role of genetic factors in the etiology and pathogenesis of various human diseases.
• The Morality of Selective Abortion and Genetic Screening The paper states that the morality of selective abortion and genetic screening is relative. This technology should be made available and legal.
• How Much Do Genetics Affect Us?
• What Can Livestock Breeders Learn From Conservation Genetics and Vice Versa?
• How Do Genetics Affect Caffeine Tolerance?
• How Dolly Sheep Changed Genetics Forever?
• What Is the Nature and Function of Genetics?
• What Are the Five Branches of Genetics?
• How Does Genetics Affect the Achievement of Food Security?
• Are Owls and Larks Different in Genetics When It Comes to Aggression?
• How Do Neuroscience and Behavioral Genetics Improve Psychiatric Assessment?
• How Does Genetics Influence Human Behavior?
• What Are Three Common Genetics Disorders?
• Can Genetics Cause Crime or Are We Presupposed?
• What Are Examples of Genetics Influences?
• How Do Genetics Influence Psychology?
• What Traits Are Influenced by Genetics?
• Why Tampering With Our Genetics Will Be Beneficial?
• How Genetics and Environment Affect a Child’s Behaviors?
• Which Country Is Best for Genetics Studies?
• How Does the Environment Change Genetics?
• Can Crop Models Identify Critical Gaps in Genetics, Environment, and Management Interactions?
• How Can Drug Metabolism and Transporter Genetics Inform Psychotropic Prescribing?
• Can You Change Your Genetics?
• How Old Are European Genetics?
• Will Benchtop Sequencers Resolve the Sequencing Trade-off in Plant Genetics?
• What Can You Study in Genetics?
• What Are Some Genetic Issues?
• Does Genetics Matter for Disease-Related Stigma?
• How Did the Drosophila Melanogaster Impact Genetics?
• What Is a Genetics Specialist?
• Will Genetics Destroy Sports?
• Does Genetic Predisposition Affect Learning in Other Disciplines? This paper aims to examine each person’s ability to study a discipline for which there is no genetic ability and to understand how effective it is.
• Detection of Genetically Modified Products Today, people are becoming more concerned about the need to protect themselves from the effects of harmful factors and to buy quality food.
• Genetically Modified Organisms Solution to Global Hunger It is time for the nations to work together and solve the great challenge of feeding the population by producing sufficient food and using fewer inputs.
• Genetic Engineering: Cloning With Pet-28A Embedding genes into plasmid vectors is an integral part of molecular cloning as part of genetic engineering. An example is the cloning of the pectate lyase gene.
• Restricting the Volume of Sale of Fast Foods and Genetically Modified Foods The effects of fast foods and genetically modified foods on the health of Arizona citizens are catastrophic. The control of such outlets and businesses is crucial.
• Researching of Genetic Engineering DNA technology entails the sequencing, evaluation and cut-and-paste of DNA. The following paper analyzes the historical developments, techniques, applications, and controversies.
• Genetically Modified Crops: Impact on Human Health The aim of this paper is to provide some information about genetically modified crops as well as highlight the negative impacts of genetically modified soybeans on human health.
• Genetic Engineering Biomedical Ethics Perspectives Diverse perspectives ensure vivisection, bio, and genetic engineering activities, trying to deduce their significance in evolution, medicine, and society.
• Down Syndrome: The Genetic Disorder Down syndrome is the result of a glandular or chemical disbalance in the mother at the time of gestation and of nothing else whatsoever.
• Genetic Modifications: Advantages and Disadvantages Genetic modifications of fruits and vegetables played an important role in the improvement process of crops and their disease resistance, yields, eating quality and shelf life.
• Genetics of Personality Disorders The genetics of different psychological disorders can vary immensely; for example, the genetic architecture of schizophrenia is quite perplexing and complex.
• Labeling of Genetically Modified Products Regardless of the reasoning behind the labeling issue, it is ethical and good to label the food as obtained from genetically modified ingredients for the sake of the consumers.
• Convergent Evolution, Genetics and Related Structures This paper discusses the concept of convergent evolution and related structures. Convergent evolution describes the emergence of analogous or similar traits in different species.
• Genetic Technologies in the Healthcare One area where genetic technology using DNA works for the benefit of society is medicine, as it will improve the treatment and management of genetic diseases.
• Are Genetically Modified Organisms Really That Bad? Almost any food can be genetically modified: meat, fruits, vegetables, etc. Many people argue that consuming products, which have GMOs may cause severe health issues.
• Type 1 Diabetes in Children: Genetic and Environmental Factors The prevalence rate of type 1 diabetes in children raises the question of the role of genetic and environmental factors in the increasing cases of this illness.
• Discussion of Genetic Testing Aspects The primary aim of the adoption process is to ensure that the children move into a safe and loving environment.
• Ethical Concerns on Genetic Engineering The paper discusses Clustered Regularly Interspaced Short Palindromic Repeats technology. It is a biological system for modifying DNA.
• The Normal Aging Process and Its Genetic Basis Various factors can cause some genetic disorders linked to premature aging. The purpose of this paper is to talk about the genetic basis of the normal aging process.
• Medicine Is Not a Genetic Supermarket Together with the development of society, medicine also develops, but some people are not ready to accept everything that science creates.
• Epigenetics: Definition and Family History Epigenetics refers to the learning of fluctuations in creatures induced by gene expression alteration instead of modification of the ‘genetic code itself.
• Genetically Modified Organisms in Aquaculture Genetically Modified Organisms are increasingly being used in aquaculture. They possess a unique genetic combination that makes them uniquely suited to their environment.
• Genetic Modification of Organisms to Meet Human Needs Genetic modification of plants and animals for food has increased crop yields as the modified plants and animals have more desirable features such as better production.
• Discussion of Epigenetics Meanings and Aspects The paper discusses epigenetics – the study of how gene expression takes place without changing the sequence of DNA.
• Mendelian Genetics and Chlorophyll in Plants This paper investigates Mendelian genetics. This lab report will examine the importance of chlorophyll in plants using fast plants’ leaves and stems.
• Genetic Testing and Bill of Rights and Responsibilities Comparing the Patient Bill of Rights or Patient Rights and Responsibilities of UNMC and the Nebraska Methodist, I find that the latter is much broader.
• Genetically Modified Products: Positive and Negative Sides This paper considers GMOs a positive trend in human development due to their innovativeness and helpfulness in many areas of life, even though GMOs are fatal for many insects.
• Overview of African Americans’ Genetic Diseases African Americans are more likely to suffer from certain diseases than white Americans, according to numerous studies.
• Plant Genetic Engineering: Genetic Modification Genetic engineering is the manipulation of the genes of an organism by completely altering the structure of the organism.
• Genetically Modified Fish: The Threats and Benefits This article’s purpose is to evaluate possible harm and advantages of genetically modified fish. For example, the GM fish can increase farms’ yield.
• 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.
• Genetic Linkage Disorders: An Overview A receptor gene in the human chromosome 9 is the causative agent of most blood vessel disorders. Moreover, blood vessel disorders are the major cause of heart ailments.
• Natural Selection and Genetic Variation The difference in the genetic content of organisms is indicative that certain group of organisms will stay alive, and effectively reproduce than other organisms residing in the same environment.
• Genetically Modified Foods: How Safe are they? This paper seeks to address the question of whether genetically modified plants meant for food production confer a threat to human health and the environment.
• The Genetic Material Sequencing This experiment is aimed at understanding the real mechanism involved in genetic material sequencing through nucleic acid hybridization.
• Genetically Modified Organisms in Human Food This article focuses on Genetically Modified Organisms as they are used to produce human food in the contemporary world.
• Genetic Disorder Cystic Fibrosis Cystic fibrosis is a genetic disorder. The clinical presentation of the disease is evident in various organs of the body as discussed in this paper.
• The Study of the Epigenetic Variation in Monozygotic Twins The growth and development of an organism result in the activation and deactivation of different parts due to chemical reactions at strategic periods and locations
• Human Genome and Application of Genetic Variations Human genome refers to the information contained in human genes. The Human Genome Project (HGP) focused on understanding genomic information stored in the human DNA.
• Saudi Classic Aniridia Genetic and Genomic Analysis This research was conducted in Saudi Arabia to determine the genetic and genomic alterations that underlie classic anirida.
• The role of genes in our food preferences.
• The molecular mechanisms of aging and longevity.
• Genomic privacy: ways to protect genetic information.
• The effects of genes on athletic performance.
• CRISPR-Cas9 gene editing: current applications and future perspectives.
• Genetic underpinnings of human intelligence.
• The genetic foundations of human behavior.
• The role of DNA analysis in criminal justice.
• The influence of genetic diversity on a species’ fate.
• Genetic ancestry testing: the process and importance.
• What Makes Humans Mortal Genetically? The causes of aging have been studied and debated about by various experts for centuries, there multiple views and ideas about the reasons of aging and.
• Decision Tree Analysis and Genetic Algorithm Methods Application in Healthcare The paper investigates the application of such methods of data mining as decision tree analysis and genetic algorithm in the healthcare setting.
• Ban on Genetically Modified Foods Genetically modified (GM) foods are those that are produced with the help of genetic engineering. Such foods are created from organisms with changed DNA.
• Genetic Screening and Testing The provided descriptive report explains how genetic screening and testing assists clinicians in determining cognitive disabilities in babies.
• Neurobiology: Epigenetics in Cocaine Addiction Studies have shown that the addiction process is the interplay of many factors that result in structural modifications of neuronal pathways.
• Genetic (Single Nucleotide Polymorphisms) Analysis of Genome The advancement of the SNP technology in genomic analysis has made it possible to achieve cheap, effective, and fast methods for analyzing personal genomes.
• Family Pedigree, Human Traits, and Genetic Testing Genetic testing allows couples to define any severe genes in eight-cell embryos and might avoid implanting the highest risk-rated ones.
• Darwin’s Theory of Evolution: Impact of Genetics New research proved that genetics are the driving force of evolution which causes the revision of some of Darwin’s discoveries.
• Case on Preserving Genetic Mutations in IVF In the case, a couple of a man and women want to be referred to an infertility specialist to have a procedure of in vitro fertilization (IVF).
• Race: Genetic or Social Construction One of the most challenging questions the community faces today is the following: whether races were created by nature or society or not.
• Huntington’s Chorea Disease: Genetics, Symptoms, and Treatment Huntington’s chorea disease is a neurodegenerative heritable disease of the central nervous system that is eventually leading to uncontrollable body movements and dementia.
• Genetics: A Frameshift Mutation in Human MC4R This article reviews the article “A Frameshift Mutation in Human mc4r Is Associated With Dominant Form of Obesity” published by C. Vaisse, K. Clement, B. Guy-Grand & P. Froguel.
• DNA Profiling: Genetic Variation in DNA Sequences The paper aims to determine the importance of genetic variation in sequences in DNA profiling using specific techniques.
• Genetics: Gaucher Disease Type 1 The Gaucher disease type 1 category is a genetically related complication in which there is an automatic recession in the way lysosomes store some important gene enzymes.
• Genetic Science Learning Center This paper shall seek to present an analysis of sorts of the website Learn Genetics by the University of Utah.
• Benefits of Genetic Engineering The potential increase of people’s physical characteristics and lifespan may be regarded as another advantage of genetic engineering.
• Simulating the Natural Selection and Genetic Drift This lab was aimed at simulating the natural selection and genetic drift as well as predicting their frequency of evolution change.
• Cystic Fibrosis: Genetic Disorder Cystic fibrosis, also referred to as CF, is a genetic disorder that can affect the respiratory and digestive systems.
• Genetic Testing and Privacy & Discrimination Issues Genetic testing is fraught with the violation of privacy and may result in discrimination in employment, poor access to healthcare services, and social censure.
• Genetics or New Pharmaceutical Article Within the Last Year Copy number variations (CNVs) have more impacts on DNA sequence within the human genome than single nucleotide polymorphisms (SNPs).
• Genetic Disorders: Diagnosis, Screening, and Treatment Chorionic villus is a test of sampling done especially at the early stages of pregnancy and is used to identify some problems which might occur to the fetus.
• Research of Genetic Disorders Types This essay describes different genetic disorders such as hemophilia, turner syndrome and sickle cell disease (SCD).
• Genetic Mechanism of Colorectal Cancer Colorectal Cancer (CRC) occurrence is connected to environmental factors, hereditary factors, and individual ones.
• Isolated by Genetics but Longing to Belong The objective of this paper is to argue for people with genetic illnesses to be recognized and appreciated as personages in all institutions.
• Genetic Association and the Prognosis of Phenotypic Characters The article understudy is devoted to the topic of genetic association and the prognosis of phenotypic characters. The study focuses on such a topic as human iris pigmentation.
• PiggyBac Transposon System in Genetics Ideal delivery systems for gene therapy should be safe and efficient. PB has a high transposition efficiency, stability, and mutagenic potential in most mammalian cell lines.
• A Career in Genetics: Required Skills and Knowledge A few decades ago, genetics was mostly a science-related sphere of employment. People with a degree in genetics can have solid career prospects in medicine and even agriculture.
• Advantages of Using Genetically Modified Foods Genetic modifications of traditional crops have allowed the expansion of agricultural land in areas with adverse conditions.
• Genetic Factors as the Cause of Anorexia Nervosa Genetic predisposition currently seems the most plausible explanation among all the proposed etiologies of anorexia.
• Personality Is Inherited Principles of Genetics The present articles discusses the principles of genetics, and how is human temperament and personality formed.
• Literature Review: Acceptability of Genetic Engineering The risks and benefits of genetic engineering must be objectively evaluated so that modern community could have a better understanding of this problem
• Impacts of Genetic Engineering of Agricultural Crops In present days the importance of genetic engineering grew due to the innovations in biotechnologies and Sciences.
• The Effects of Genetic Modification of Agricultural Products Discussion of the threat to the health of the global population of genetically modified food in the works of Such authors as Jane Brody and David Ehrenfeld.
• Genetic Engineering in Food and Freshwater Issues The technology of bioengineered foods, genetically modified, genetically engineered, or transgenic crops, will be an essential element in meeting the challenging population needs.
• Genetic Engineering and Religion: Designer Babies The current Pope has opposed any scientific procedure, including genetic engineering, in vitro fertilization, and diagnostic tests to see if babies have disabilities.
• Op-ED Genetic Engineering: The Viewpoint The debate about genetic engineering was started more than twenty years ago and since that time it has not been resolved
• Genetically Modified Food as a Current Issue GM foods are those kinds of food items that have had their DNA changed by usual breeding; this process is also referred to as Genetic Engineering.
• All About the Role of Genetic Engineering and Biopiracy The argument whether genetically engineered seeds have monopolized the market in place of the contemporary seeds has been going on for some time now.
• Genetic Engineering and Cloning Controversy Genetic engineering and cloning are the most controversial issues in modern science. The benefits of cloning are the possibility to treat incurable diseases and increase longevity.
• Biotechnology: Methodology in Basic Genetics The material illustrates the possibilities of ecological genetics, the development of eco-genetical models, based on the usage of species linked by food chain as consumers and producers.
• Genetic foundations of rare diseases.
• Genetic risk factors for neurodegenerative disorders.
• Inherited cancer genes and their impact on tumor development.
• Genetic variability in drug metabolism and its consequences.
• The role of genetic and environmental factors in disease development.
• Genomic cancer medicine: therapies based on tumor DNA sequencing.
• Non-invasive prenatal testing: benefits and challenges.
• Genetic basis of addiction.
• The origins of domestication genes in animals.
• How can genetics affect a person’s injury susceptibility?
• Genetics Impact on Health Care in the Aging Population This paper briefly assesses the impact that genetics and genomics can have on health care costs and services for geriatric patients.
• Concerns Regarding Genetically Modified Food It is evident that genetically modified food and crops are potentially harmful. Both humans and the environment are affected by consequences as a result of their introduction.
• Family Genetic History and Planning for Future Wellness The patient has a family genetic history of cardiac arrhythmia, allergy, and obesity. These diseases might lead to heart attacks, destroy the cartilage and tissue around the joint.
• Personal Genetics and Risks of Diseases Concerning genetics, biographical information includes data such as ethnicity. Some diseases are more frequent in specific populations as compared to others.
• Genetic Predisposition to Alcohol Dependence and Alcohol-Related Diseases The subject of genetics in alcohol dependence deserves additional research in order to provide accurate results.
• Genetically-Modified Fruits, Pesticides, or Biocontrol? The main criticism of GMO foods is the lack of complete control and understanding behind GMO processes in relation to human consumption and long-term effects on human DNA.
• Genetic Variants Influencing Effectiveness of Exercise Training Programmes “Genetic Variants Influencing Effectiveness of Exercise Training Programmes” studies the influence of most common genetic markers that indicate a predisposition towards obesity.
• Eugenics, Human Genetics and Their Societal Impact Ever since the discovery of DNA and the ability to manipulate it, genetics research has remained one of the most controversial scientific topics of the 21st century.
• Genetic Interference in Caenorhabditis Elegans The researchers found out that the double-stranded RNA’s impact was not only the cells, it was also on the offspring of the infected animals.
• Genetics and Autism Development Autism is associated with a person’s genetic makeup. This paper gives a detailed analysis of this condition and the role of genetics in its development.
• Start Up Company: Genetically Modified Foods in China The aim of establishing the start up company is to develop the scientific idea of increasing food production using scientific methods.
• Community Health Status: Development, Gender, Genetics Stage of development, gender and genetics appear to be the chief factors that influence the health status of the community.
• Genetics of Developmental Disabilities The aim of the essay is to explore the genetic causes of DDs, especially dyslexia, and the effectiveness of DNA modification in the treatment of these disorders.
• Homosexuality as a Genetic Characteristic The debate about whether homosexuality is an inherent or social parameter can be deemed as one of the most thoroughly discussed issues in the contemporary society.
• Autism Spectrum Disorder in Twins: Genetics Study Autism spectrum disorder is a behavioral condition caused by genetic and environmental factors. Twin studies have been used to explain the hereditary nature of this condition.
• Why Is the Concept of Epigenetics so Fascinating? Epigenetics has come forward to play a significant role in the modern vision of the origin of illnesses and methods of their treatment, which results in proving to be fascinating.
• Epigenetics and Its Effect on Physical and Mental Health This paper reviews a research article and two videos on epigenetics to developing an understanding of the phenomenon and how it affects individuals’ physical and mental health.
• Genetic Counseling for Cystic Fibrosis Some of the inherited genes may predispose individuals to specific health conditions like cystic fibrosis, among other inheritable diseases.
• Genetic and Genomic Healthcare: Nurses Ethical Issues Genomic medicine is one of the most significant ways of tailoring healthcare at a personal level. This paper will explore nursing ethics concerning genetic information.
• Patent on Genetic Discoveries and Supreme Court Decision Supreme Court did not recognize the eligibility of patenting Myriad Genetics discoveries due to the natural existence of the phenomenon.
• Genetic Testing, Its Background and Policy Issues This paper will explore the societal impacts of genetic research and its perceptions in mass media, providing argumentation for support and opposition to the topic.
• Genetically Modified Organisms and Future Farming There are many debates about benefits and limitations of GMOs, but so far, scientists fail to prove that the advantages of these organisms are more numerous than the disadvantages.
• GMO: Some Peculiarities and Associated Concerns Genetically modified organisms are created through the insertion of genes of other species into their genetic codes.
• Mitosis, Meiosis, and Genetic Variation According to Mendel’s law of independent assortment, alleles for different characteristics are passed independently from each other.
• Genetic Counseling and Hypertension Risks This paper dwells upon the peculiarities of genetic counseling provided to people who are at risk of developing hypertension.
• The Perspectives of Genetic Engineering in Various Fields Genetic engineering can be discussed as having such potential benefits for the mankind as improvement of agricultural processes, environmental protection, resolution of the food problem.
• Labeling Food With Genetically Modified Organisms The wide public has been concerned about the issue of whether food products with genetically modified organisms should be labeled since the beginning of arguments on implications.
• Diabetes Genetic Risks in Diagnostics The introduction of the generic risks score in the diagnosis of diabetes has a high potential for use in the correct classification based on a particular type of diabetes.
• Residence and Genetic Predisposition to Diseases The study on the genetic predisposition of people to certain diseases based on their residence places emphasizes the influence of heredity.
• Eugenics, Human Genetics and Public Policy Debates Ethical issues associated with human genetics and eugenics have been recently brought to public attention, resulting in the creation of peculiar public policy.
• 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.
• Genetically Modified Organisms: Position Against Genetically modified organisms are organisms that are created after combining DNAs of different species to come up with a transgenic organism.
• Genetically Modified Organisms and Their Benefits Scientists believe GMOs can feed everyone in the world. This can be achieved if governments embrace the use of this new technology to create genetically modified foods.
• Food Science and Technology of Genetic Modification Genetically modified foods have elicited different reactions all over the world with some countries banning its use while others like the United States allowing its consumption.
• How Much can We Control Our Genetics, at What Point do We Cease to be Human? The branch of biology that deals with variation, heredity, and their transmission in both animals and the plant is called genetics.
• Genetic Engineering: Gene Therapy The purpose of the present study is to discover just what benefits gene therapy might have to offer present and future generations.
• Genetically Modified Foods and Their Impact on Human Health Genetically modified food has become the subject of discussion. There are numerous benefits and risks tied to consumption of genetically modified foods.
• The Potential Benefits of Genetic Engineering Genetic engineering is a new step in the development of the humans’ knowledge about the nature that has a lot of advantages for people in spite of its controversial character.
• Genetic Engineering: Dangers and Opportunities Genetic engineering can be defined as: “An artificial modification of the genetic code of an organism. It changes radically the physical nature of the being in question.

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

This essay topic collection was updated on June 22, 2024 .

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• NSGC Genetic Counseling Literature Repository The NSGC GCLR is a resource to identify articles that: 1) document the value and quality of genetic counseling services and 2) describe clinical and research outcomes relevant to genetic counseling patients. This resource includes peer-reviewed scientific literature and select editorials identified via a structured search protocol, conducted monthly by members of the RQO Committee.
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119 Genetics Research Topics You Must Know About

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

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

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

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

What Is Genetics?

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

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

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

Tips On How To Write A Decent Research Paper On Genetics

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

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

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

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

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

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

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

Good Ideas For Genetics Topics

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

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

Hot Topics In Genetics

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

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

Molecular Genetics Topics

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

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

Human Genetics Research Topics

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

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

Current Topics in Genetics

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

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

Controversial Genetics Topics

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

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

Get Professional Help Online

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

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

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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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• v.23(5); 2020 May 22

Rare Genetic Diseases: Nature's Experiments on Human Development

Chelsea e. lee.

1 Department of Cell Biology, Emory University, Atlanta, GA 30322, USA

Kaela S. Singleton

Melissa wallin, victor faundez.

Rare genetic diseases are the result of a continuous forward genetic screen that nature is conducting on humans. Here, we present epistemological and systems biology arguments highlighting the importance of studying these rare genetic diseases. We contend that the expanding catalog of mutations in ∼4,000 genes, which cause ∼6,500 diseases and their annotated phenotypes, offer a wide landscape for discovering fundamental mechanisms required for human development and involved in common diseases. Rare afflictions disproportionately affect the nervous system in children, but paradoxically, the majority of these disease-causing genes are evolutionarily ancient and ubiquitously expressed in human tissues. We propose that the biased prevalence of childhood rare diseases affecting nervous tissue results from the topological complexity of the protein interaction networks formed by ubiquitous and ancient proteins encoded by childhood disease genes. Finally, we illustrate these principles discussing Menkes disease, an example of the discovery power afforded by rare diseases.

Graphical Abstract

Clinical Genetics; Human Genetics

The term “rare disease” describes a group of diseases whose prevalence is so low that they are considered an unviable market for therapeutics in the absence of appropriate incentives and support and too rare to be fully investigated and appropriately managed by professionals ( Orphanet, 2020 , Waxman, 1983 ). Among this group, there is a subgroup, the rare genetic diseases target of this article, which frequently affect the nervous system with chronic, progressive, and degenerative pathology that disproportionately affects children ( Figure 1 ). Although the name emphasizes that these diseases are infrequent, the reality is that ∼6,000 rare diseases collectively affect an estimated ∼300 million people worldwide ( Nguengang Wakap et al., 2020 ). In this article, we argue that rare genetic diseases offer a vast landscape for discovery of fundamental and novel biological mechanisms. We will exemplify this concept with three Nobel prizes born out of the study of unique mutations in model genetic organisms. We will discuss examples of how rare monogenic defects have impacted our understanding of important biological problems such as ossification. We will finish this article discussing a rare monogenic disorder of copper metabolism, Menkes disease, because it illustrates how the study of a rare genetic affliction can produce pioneer insight into fundamental biology and prevalent diseases, such as Parkinson disease. The genetic tractability of monogenic defects, their penetrance in early life, and the expanding collection of human mutations and curated phenotypes make rare diseases ideal targets of study for discovering evolutionarily conserved biological mechanisms that go awry in common human diseases. The present and expanding sophistication of genome-wide expression analysis tools, such as genealogical and interactome proteomics ( Comstra et al., 2017 , Gokhale et al., 2012 , Gokhale et al., 2019 , Perez-Cornejo et al., 2012 , Zlatic et al., 2018 ), lends itself to comprehensive study of these diseases as a way to deepen our understanding of how a defective protein node participates in the pathogenesis of rare and common diseases.

Principal Features of Rare Genetic Disorders

What Are Rare Diseases?

Rare diseases are defined by their prevalence rather than by unifying pathological or clinical characteristics. In United States, a disease falls in this category if it affects fewer than 200,000 individuals, corresponding to a prevalence of ∼6.6 in 10,000 subjects. This threshold was adopted by law with the passing of the Orphan Product Act of 1983, a law that successfully achieved its goal of accelerating the therapeutic discoveries for treating rare diseases ( Boat, 2015 , Haffner, 2006 , Waxman, 1983 ). Other countries have defined rare diseases similarly, with thresholds set at a prevalence of 3.9/10,000 in Japan or 5/10,000 in European countries ( Boat, 2015 ). These definitions capture between 6,000 and 10,000 rare diseases that collectively afflict millions of individuals in the United States and an estimated ∼260–450 million people worldwide ( Haendel et al., 2020 , Nguengang Wakap et al., 2020 ).

Because rare diseases are defined by their low prevalence, they encompass a broad spectrum of pathologies and pathogenesis mechanisms ( Boat, 2015 , Orphanet, 2020 ). Genetic rare diseases are the focus of our article, accounting for nearly 80% of all rare diseases ( Boat, 2015 , Wright et al., 2018 ). However, rare diseases also include non-genetic rare diseases such as autoimmune disorders and rare cancers as well as maladies caused by infectious or toxic agents ( Orphanet, 2020 ). Some are known to the general population, such as rabies, but others are exceptionally rare. This is the case of Lemierre syndrome, a septic thrombophlebitis of the head and neck caused by Fusobacterium necrophorum , an anaerobic oral commensal ( Han, 2015 ). Arsenic and mercury poisoning can also cause rare diseases, and mesothelioma is a neoplasia caused by asbestos exposure. Finally, there is a miscellaneous category that includes some rare nutritional deficiencies, such as beriberi, and complications of trauma or cancer treatments ( Orphanet, 2020 ).

The unmet medical needs and the plight of affected patients and families are powerful arguments for further study of this wide range of rare diseases, as has been discussed previously ( Klein and Gahl, 2018 , Schieppati et al., 2008 , Wastfelt et al., 2006 ). Here we will focus on biological arguments as justification for the study of rare diseases. Our argument is that rare genetic diseases are a gateway for discovering novel biology with broad impact for common human diseases. We begin to support this contention analyzing three examples where the study of a rare genetic mutation produced biological insight whose fundamental nature was recognized by Nobel awards. We end this article describing the impact of a rare genetic disorder, Menkes disease, in our knowledge of trace metal biology and the intersection of trace metals with common neurodegenerative diseases.

Why Study Rare Genetic Diseases, an Epistemological Perspective

There are contrasting views about the value of a rare event in biology and medicine. On one side for a biologist, a rare mutation and its phenotype are windows into mechanisms governing otherwise inscrutable complex biological processes. This vision motivates biologists to study connections between mutation and phenotype. We often perform these studies in model organisms with identical genomes, or isogenic, such as Saccharomyces cerevisiae , Drosophila melanogaster , or Mus musculus . Forward genetic screens seeking mutants in cell secretion, cell cycle, or circadian rhythms are good examples of how just one or few mutants can open doors to progressively unravel the intricacies of these biological processes. For example, the first cdc genes required for cell-cycle progression were identified in the Baker's yeast Saccharomyces cerevisiae and the fission yeast Schizosaccharomyces pombe ( Hartwell, 1974 , Hartwell et al., 1970 , Nurse, 1975 ). The sec genes required for protein secretion were identified in the Baker's yeast ( Novick et al., 1980 , Novick et al., 1981 ). The first circadian rhythm gene, period, was discovered in the fly ( Bargiello et al., 1984 , Konopka and Benzer, 1971 , Young, 2018 ). The common thread linking these apparently disparate stories is that a single and rare genetic mutation was sufficient and necessary to begin disentangling these complex biological processes. The knowledge gained in these studies in non-human organisms guided the understanding of disease mechanisms in later discovered rare diseases caused by mutation in human orthologues of these genes ( Russo et al., 2013 ). We document this idea in Table 1 , listing the first 23 secretory sec genes and their human orthologues with some of the rare diseases so far identified. These stories of cell cycle, secretion, or circadian rhythms all culminated in Nobel Prizes in 2001, 2013, and 2017, respectively. These stories have spurred considerable research into human diseases ranging from diabetes mellitus to cancer, and these studies span from mechanisms governing insulin secretion by pancreatic beta cells to cell-cycle progression in cancer cells founded on knowledge obtained from these isogenic model genetic organisms ( Gerber and Sudhof, 2002 , Hartwell and Kastan, 1994 ). These examples underscore the power of the systematic study of a rare genetic mutation for our understanding of universal biological processes with relevance for prevalent human disease.

List of the 23 Sec Genes, Human Orthologues, and Paralogues plus Rare Diseases

An alternate view is that the study of natural rare mutations in humans may be a risky choice. Arguments in favor of this view center around three chief arguments. First is the fact that humans are not genetically homogeneous. However, genomic efforts to understand the impact of mouse genetic diversity on phenotypic outcomes will help us to assess the impact of the genetic heterogeneity inherent to the study of human genetic diseases ( Srivastava et al., 2017 ). Second, human mutations can be exceedingly rare, thus preventing a large casuistic for study. Third, some human mutation-associated phenotypes are not systematically annotated or quantitative. Despite these caveats, rare mutations in human models represent an opportunity much like the cdc , sec , or period genes and their mutations. Rare human genetic diseases can be seen as the results of the forward genetic screen that nature has been continuously running on us since the emergence of our species. These mutations and their phenotypes tell us incontrovertibly that these genes matter for a process yet to be discovered. The risk versus reward dilemma in the study of rare human diseases is articulated elegantly by Carl Zimmer in an article describing the rare disease fibrodysplasia ossificans progressiva ( Zimmer, 2013 ). The prevalence of this disease is 1 in 2 million, a fact that could easily become a deterrent for study. Yet the penetrant and severe phenotype and therefore the mechanisms underneath the phenotype were hard to ignore for the pioneers studying this ultra-rare disease. Fibrodysplasia ossificans progressiva results in heterotopic ossification of muscle and connective tissue, a phenotype caused by dominant mutations in the gene ACVR1, encoding the activin A receptor 1 (OMIM 135100 ). ACVR1 is a widely expressed and evolutionarily recent gene appearing in mammals. The ACVR1 activity is required for controlling growth and development of bones and muscles, including endochondral ossification ( Kaplan et al., 2012 ). The ACVR1 disease-causing mutations increase signal transduction through the bone morphogenetic protein signal transduction pathway whose ligands bind to ACVR1. This biological insight offered by the discovery of ACVR1 mutations in humans precedes information obtained from model genetic organisms ( Kaplan et al., 2012 , Shore et al., 2006 ).

Thus, if a mutation causes a strong and penetrant phenotype, the low prevalence of a rare genetic mutation in model genetic organisms or humans should not be a deterrent for their consideration. The frequency of a genetic defect neither foresees the significance of the biological process gone awry nor does it predict the potential for impacting human biology and health. We will discuss this point later using Menkes disease as an example. The pursuit for understanding human mutations with robust and penetrant phenotypes is a demonstrated path for unraveling universal biological principles much like forward genetic screens performed in isogeneic genetic organisms. This idea is not new. It was first formulated by William Harvey in 1657 in a response to John Vlackveld of Harlem, a Dutch physician who was asking Harvey's advice concerning a unique clinical case:

Harvey replied: “It is even so-Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path; nor is there any better way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of Nature by careful investigation of cases of rarer forms of disease. For it has been found, in almost all things, that what they contain of useful or applicable is hardly perceived unless we are deprived of them, or they become deranged in some way.”

Harvey's vision was first enunciated in the context of genetic diseases by Archibald Garrod, the father of Medical Genetics in 1928 ( Garrod, 1928 ). Garrod also paraphrased this concept stating:

“The study of nature's experiments is of special value; and many lessons which rare maladies can teach could hardly be learned in other ways.”

In the next sections, we attempt to provide some answers to these questions posed then and now: What lessons can be learned from diseases as individual entities, and what can we learn from their collective study?

Learning from Rare Genetic Diseases through Systems Biology

It is estimated that 6,172 clinically distinct diseases are genetic in nature according to Orphanet , an online database of rare diseases that includes genetic and non-genetic diseases defined according to the European prevalence threshold ( Cutillo et al., 2017 ). As of early 2020, the Online Mendelian Inheritance in Man resource, OMIM, lists 6,594 diseases with known molecular genetic defect, which collectively encompass 4,225 genes ( https://www.omim.org/statistics/geneMap ). This figure is increasing at a rate of ∼50–60 new genetic diseases per year in the Orphanet and OMIM databases ( Boycott et al., 2017 ). Initiatives such as the NIH Undiagnosed Diseases Program and Network and The International Rare Diseases Research Consortium are accelerating the rate of discovery of novel genetic diseases ( Gahl et al., 2016 , Kuehn, 2011 ). Thus, it is conceivable that with time, we may identify sufficient genetic defects in humans so we can come close to the desired goal of all geneticists, a saturation mutagenesis screen to hit all genes and to find phenotypes of every individual gene.

To extract information out of these ∼6,000 rare genetic diseases, we analyzed genetic diseases listed in OMIM using disease descriptors from the Human Phenotype Ontology Database (HPO). The March 2020 release of the HPO offered us ∼156,000 annotations to rare diseases using a palette of over 13,000 ontological descriptors ( Kohler et al., 2017 ). Of the 6,594 OMIM disease entries, 45% correspond to autosomal recessive diseases (HP:0000007), 32% fall into autosomal dominant disease category (HP:0000006), and 10% are diseases linked to the X and Y chromosomes (HP:0010985) ( Figure 2 A).

Quantitative Descriptors of Rare Genetic Disorders Curated by OMIM and Annotated by HPO

We used the HPO annotated descriptors for all curated genetic disorders to assess global descriptors of disease.

(A) Describes all diseases and associated genes according to Mode of inheritance HP:0000005 .

(B) Presents the distribution of diseases according to the age group in which disease manifestations appear: Onset HP:0003674 .

(C) Diseases were classified according to annotated clinical phenotypes.

(D) Graph presents the distribution of disease according to the organ/tissue/system affected. Phenotypic abnormality HP:0000118 .

(E–H) Venn diagrams present overlaps between different HPO terms listed in A–D. All bold numbers indicate overlaps of diseases with HPO terms associated to childhood converging on nervous system and behavioral HPO terms. (E and F) present data for recessive disorders. (G and H) depict data for dominant disorders. (A-D) Y axis represent % of curated OMIM diseases and Y1 axis shows the number of genes associated to the HPO terms (red symbols).

Analysis of the age of onset in rare diseases (HP:0003674) reveals the remarkable observation that 55% of all diseases are of pediatric origin (HP:0410280, Figure 2 B), an onset category defined as diseases that manifest before the age of 16 years, but excluding neonatal or congenital onset. However, if we pool together pediatric, congenital, and neonatal diseases (referred here as childhood diseases); a staggering 83% of all rare diseases affect the child ( Figure 2 B). The picture is similar if we consider other ontological terms that capture diverse phenotypic manifestations in all rare diseases. The two top ontological terms encompassing 40% of all rare genetic diseases are by definition ascribed to children. These include global developmental delay and intellectual disability (HP:0001263 and HP:0001249, Figures 2 E–2H), which describe delays in achieving motor or mental milestones before puberty. Similarly, analysis of all rare genetic diseases by the organ these diseases affect indicate that, irrespective of age, close to 70% of these diseases produce abnormalities of the nervous system (HP:0000707, Figure 2 D). Our findings are in rapport with a recently reported study ( Sanders et al., 2019 ). The compromise of the nervous system is even more pronounced in childhood diseases where 89.6% of childhood diseases compromise the nervous system or behavior irrespective of whether these diseases are dominant or recessive ( Figures 2 E–2H, bold numbers). These findings show that rare diseases preferentially affect human development and in particular the development of the nervous system.

Unifying Principles of Rare Genetic Diseases, a Systems Biology Perspective

The above findings beg the question of why the most prevalent phenotypes among rare diseases are abnormalities of the nervous system that disproportionally affect the child. We used systems biology analyses of genes affected in diseases of the childhood and compared them with genes associated to diseases of the adult. We chose childhood and adult categories because these disease onset descriptors are annotated in the HPO database (see legend to Figure 3 and HP:0003674). We discriminated among the following hypotheses that could account for this phenotypic bias toward the child nervous system:

• 1) Genes associated with childhood diseases appeared in evolution together with the emergence of nervous systems in metazoans.
• 2) Childhood disease genes are preferentially enriched in the developing brain.
• 3) Childhood disease genes are preferentially expressed in neurons or glia and their subcellular compartments, such as the synapse.
• 4) Childhood disease genes code for proteins that form nodes of high interconnectivity in protein interaction networks.

Most Rare Disease Genes are Evolutionarily Ancient

We use the lists of genes associated with childhood diseases (pooled HP:0410280 , HP:0030674 , HP:0003577 , and HP:0003623 ) and adult genetic diseases ( HP:0003581 ) and analyzed them with the CLIME engine to determine the presence of orthologues and paralogues across species ( Li et al., 2014 ). The presence of paralogues or orthologues is marked by blue cells in the heatmap.

This latter idea is founded on the observation that highly connected nodes tend to enrich gene products in which mutations produce lethality or impair housekeeping functions, suggesting that these genes are physiologically indispensable ( Jeong et al., 2001 , Lin et al., 2009 , Rodrigues and Costa Lda, 2009 , Yang et al., 2014 , Yang et al., 2016 ).

Are rare diseases genes associated with childhood or adult genetic diseases a recent or ancient evolutionary occurrence? We used the CLIME engine to analyze the evolution of childhood or adult disease genes ( Li et al., 2014 )( Figure 3 ). Sixty percent of all childhood and adult genes possess orthologues in organisms that lack nervous systems including unicellular plants ( Chlamydomonas reinhardtii ) or unicellular fungi ( Saccharomyces cerevisiae ). However, just 5% of these childhood and adult genes appeared together with the emergence of metazoans with complex nervous systems, such as Drosophila melanogaster . This enrichment in ancestral genes among rare genetic disorders likely explains the exceedingly low prevalence of these diseases due to early embryonic lethality. In fact, it is estimated that between 50% and 70% of all early miscarriages are associated with aneuploidies and with 66 monogenic defects annotated in the HPO database ( HP:0005268 ) ( Hyde and Schust, 2015 , Soler et al., 2017 , van den Berg et al., 2012 ). These miscarriage-associated genes are enriched in constituents of the axoneme, an ancient organelle present since the emergence of unicellular plants (GO:0005858, p= 7.603 × 10 −12 )( Carvalho-Santos et al., 2011 ). In agreement with these evolutionary findings, we observed that the expression of childhood rare disease genes is not significantly enriched in the brain or any brain regions across development ( Figures 4 A–4C). Moreover, organelle-based ontologies could not distinguish childhood and adult diseases ( Figure 4 D). In fact, there is a balanced representation of organelles present in all cell types such as mitochondria, peroxisome, or vacuole. These ubiquitous organelles are similarly represented as compared with neuronal subcompartments ( Figure 4 D). Childhood diseases genes were overrepresented in all these cellular compartment annotations as compared with genes contributed by adult diseases ( Figure 4 E). The only exception was the cellular compartment, I-band, a muscle sarcomere structure (GO:0031674, Figure 4 D, gray color), where both childhood and adult disease genes were annotated in a 1 to 1 ratio. Genes from childhood and adult diseases were annotated to neuronal compartment terms, such as synapse, in a 4 to 1 ratio (GO:0045202). However, the rare disease gene ratio is even more pronounced with a 1 to 0 and 5.4 to 1 ratio between childhood and adult disease genes for genes that are annotated to the peroxisome (GO:0044439) or mitochondria, respectively (GO:0005739). Genetic defects in these last two ubiquitous cellular organelles have long been recognized as severely affecting the nervous system of the child even though these organelles are present in all eukaryotes and metazoan tissues ( Gorman et al., 2016 , Koumandou et al., 2013 , Waterham et al., 2016 ). These analyses allow us to draw two general conclusions. First, genes necessary for fundamental cellular processes are likely required throughout the lifespan of the organism, thus providing an explanation to the early life appearance of rare genetic disease phenotypes. Second, our evolutionary, tissue, or subcellular compartment criteria neither explain the preponderance of neurological and behavioral phenotypes in all genetic diseases combined nor in genetic diseases of the childhood.

Rare Disease Gene Ontologies and Protein-Protein Interaction Topologies

(A–C) We used the childhood and adult gene HPO lists to explore tissue expression in human tissues using the ARCHS4 transcript database (A), the Human Proteome Map Database (B), or de human brain developmental mRNA expression database CSEA (C) ( Kim et al., 2014 , Lachmann et al., 2018 , Wells et al., 2015 ). A and B present top ranked tissues where gene lists are expressed. Note that only adult disease mRNAs are significantly enriched in categories describing striated muscle. Childhood diseases genes do not enrich nervous tissue or any other tissue ontologies. Figures A–C show Fisher's exact p values, followed by the Benjamini-Hochberg correction.

(D and E) Gene lists for childhood and adult diseases were combined and analyzed using the Cytoscape ClueGo plugin for cellular compartment ontologies (GO:CC) ( Bindea et al., 2009 ). Color in D depicts GO CC terms. Color in E represents the percentage of genes that belong to childhood diseases in the CC term depicted in (D). Note that only one term is equally represented by childhood and adult genes: the I- band belonging to striated muscle. All ontologies are significant with a corrected p value <0.05. Size of circle is proportional to the significance of the term.

(F–H) Protein-protein interaction network data for the childhood (F) and adult disease gene lists (G) were obtained from Genemania ( Franz et al., 2018 ). Networks were built and their topologies analyzed with Cytoscape and the NetworkAnalyzer plugin ( Doncheva et al., 2012 , Shannon et al., 2003 ). H presents centrality parameters for the childhood (blue symbols) and adult disease genes (purple symbols).

In seeking answers to the disproportionate effects of rare genetic disease on the nervous system among diseases of the childhood ( Sanders et al., 2019 ), we asked if protein-protein interaction networks constructed with childhood gene products differed in complexity from networks assembled with genes causative of rare diseases of the adult. We used experimentally defined protein-protein interaction networks and integrated them with predicted protein-protein interaction networks generated by yeast two-hybrid analyses. These interaction networks have been curated, maintained, and updated in the Genemania web engine ( Franz et al., 2018 ) ( Figures 4 F and 4G). The network generated with childhood disease genes has higher network heterogeneity index than the adult network (1.476 versus 0.818), indicating that the childhood disease gene network contains more “hub” protein nodes than the adult network. Furthermore, the childhood disease gene network possesses protein nodes of a higher connectivity to other nodes within the network, as revealed by the average number of neighbors, 4.5 neighbors per node in the childhood disease network versus 3.4 for adult disease network proteins nodes. These global network parameters indicate that the childhood disease protein-protein interaction network is more complex and its nodes are of higher connectivity than those in the adult network.

We further determined the extent of childhood and adult network complexity asking how each protein connected to the rest of protein nodes using centrality parameters ( Figure 4 H). We described each protein node with betweenness and closeness centrality scores. Betweenness centrality of a protein node quantifies the amount of control that this node exerts over the interactions of other nodes within the network. Closeness centrality is a measure of how close a node is to other nodes, an indication of how quickly information spreads from a given node to other reachable nodes in the network ( Doncheva et al., 2012 , Dong and Horvath, 2007 , Freeman, 1979 , Yoon et al., 2006 ). Childhood disease protein nodes displayed higher centrality indexes as compared with adult disease protein nodes. This demonstrates that childhood disease proteins are biased toward more complex interactions than adult disease proteins. This begs the question, how are the complexity of the childhood disease networks and the preponderance of neurological phenotypes related to each other? One view is that genes expressed in the brain are engaged in networks as nodes of higher connectivity. However, present data argue against this hypothesis, as brain protein-protein interactions are comparable in connectivity to other tissues ( Barshir et al., 2014 ). Rather it seems that widely expressed proteins mutated in genetic diseases are more likely to engage with other proteins involved in tissue-specific protein-protein interactions ( Barshir et al., 2014 ). This observation is in line with recent findings demonstrating that tissue-specific proteins bridge conserved protein complexes present in most tissues ( Bossi and Lehner, 2009 , Huttlin et al., 2020 , Luck et al., 2019 ). The brain is the most diversified proteome of all organs and the human organ with the second most tissue-enriched/specifically expressed proteins ( Fagerberg et al., 2014 , Sharma et al., 2015 , Sjostedt et al., 2015 , Uhlen et al., 2015 ). Thus, we propose that the prevalence of childhood diseases affecting nervous tissue is the product of the topological complexity of the networks formed by ubiquitous proteins encoded by childhood disease genes plus the abundance of brain-enriched/specific protein. We speculate that brain-enriched/specific proteins would propagate the consequences of genetic defects in a conserved protein complex into other conserved and ubiquitous complexes, thus amplifying the emergence of phenotypes in the brain.

We conclude that investigating rare genetic diseases is in fact a way to study the function of the most evolutionarily conserved genes and cellular mechanisms. Once again, similar to the case with Harvey and Garrod illustrate, this is not a new idea. It has long been recognized that ascertainment of monogenic genetic diseases by rare and early onset cases is a tool to study common yet genetically complex diseases. This is the case of Alzheimer, schizophrenia, or type II diabetes where pedigrees of families with early age onset of disease have been instructive of the mechanisms of common complex diseases that are frequently polygenic and influenced by environmental factors ( Fajans et al., 2001 , Murrell et al., 1991 , Rapoport et al., 2012 ).

Learning about Common Human Diseases from a Rare Genetic Disease

Menkes disease exemplifies central features of most rare genetic diseases. Menkes is a childhood multisystemic disease that severely affects the nervous system (OMIM 309400 ). As other examples discussed earlier, the study of Menkes disease has opened the door to fundamental concepts about the molecular biology and physiology of trace metals. Even after 58 years of studying this disease, there are still Menkes-inspired novel biological insights. Recently, we produced evidence of genetic and molecular interactions between the Menkes disease gene, ATP7A, and common diseases such as Parkinson disease ( Comstra et al., 2017 , Hartwig et al., 2019 , Zlatic et al., 2018 ).

The story of Menkes disease began in New York in 1962 with a family of English-Irish descent. Dr John H. Menkes described the first five patients belonging to this family. His patients were affected by an X-linked recessive disease characterized by failure to thrive, abnormal hair and skin, intellectual disability, as well as cerebral and cerebellar neurodegeneration. Severe neurologic symptoms appeared 1–2 months after birth and progressed rapidly to death ( Menkes, 1988 , Menkes et al., 1962 ). The next chapter began in 1972, when David Danks et al. demonstrated low levels of serum copper and ceruloplasmin in seven patients with Australian Menkes disease, leading to Danks' seminal proposition that Menkes disease is a disease of copper absorption ( Danks et al., 1972 ). This hypothesis was definitively tested with an enterocyte-specific knock-out of the murine Atp7a gene that fully recapitulates Menkes disease ( Wang et al., 2012 ). Notably, human-research-founded hypotheses preceded the identification of the metabolic defect in mice that carry Atp7a mutations by decades with the study of the mottled series of mice ( Grimes et al., 1997 , Hunt, 1974 ). It took 21 years after the disease's first description for three groups to independently clone the candidate gene of Menkes disease, ATP7A, a finding that spurred our understanding of copper biology ( Chelly et al., 1993 , Mercer et al., 1993 , Vulpe et al., 1993 ). Even before the identification of the gene mutated in Menkes disease, Danks presciently concluded that the study of this rare disease would lead to “ many new lines of research on copper metabolism and trace metal deficiency. ” This statement abides by the spirit of Harvey and Garrod dictum about the conceptual gains of studying Nature's defects that fall " apart from the beaten path" ( Danks et al., 1972 ).

Presently, we know that genetic defects affecting the copper-transporter P-ATPase, ATP7A, cause three X-linked recessive rare diseases: occipital horn syndrome (OMIM 304150 ), spinal muscular atrophy, distal, X-linked 3 (SMAX3, OMIM 300489 ), and Menkes disease (OMIM 309400 ) ( Kaler, 2011 ). Approximately 380 different mutations affecting ATP7A gene have been described so far in the Human Gene Mutation Database ( Moller et al., 2009 , Tumer, 2013 ). Milder missense mutations in ATP7A generate occipital horn syndrome, which is characterized by ataxia, dysarthria, moderate hypotonia, and intellectual disability in addition to systemic phenotypes ( Das et al., 1995 , Kaler et al., 1994 ), and SMAX3, where spinomuscular atrophy occurs independently of cognitive defects ( Kennerson et al., 2010 , Takata et al., 2004 ). More severe loss-of-function mutations result in Menkes disease proper, a multisystemic metabolic disease affecting copper homeostasis. Menkes is a rare affliction with an incidence of 1/140,000 to 1/300,000 ( Gu et al., 2005 , Kaler, 2011 ). Menkes manifests soon after birth with hypotonia, focal and generalized seizures, impaired cognitive development, and brain atrophy. Systemically, Menkes disease affects hair with multiple defects including pili torti (twisted hairs), monilethrix (beaded hairs), and thickened or weak nodes that cause hair fragility (trichorrhexis nodosa). In addition, hair and skin are hypopigmented. There is laxity of the skin ( cutis laxa ) and joints, osteoporosis, bladder diverticula, aneurysms, and vascular tortuosity in brain arteries ( Kaler, 2011 , Lutsenko et al., 2007 , Manara et al., 2017 , Polishchuk and Lutsenko, 2013 ).

Menkes disease clinical features have been traditionally attributed to defects in diverse cuproenzymes that traverse the secretory pathway and remain as inactive apoenzymes in the disease state ( Kaler, 2011 , Lutsenko et al., 2007 , Polishchuk and Lutsenko, 2013 ) ( Table 2 ). This defect in loading copper into apoenzymes results from a defect in copper transport into the Golgi lumen as ATP7A normally is a resident transporter of the Golgi apparatus ( Petris et al., 1996 ). The cutis laxa, bone, bladder, and vascular phenotypes are attributed to the defective activity of enzymes required for the modification of collagen fibers and elastin such as lysyl oxidase (LOX). Hypopigmentation is due to defective tyrosinase activity and hair defects to impaired sulfhydryl oxidase activity ( Harris, 2013 , Tumer and Moller, 2010 , Zlatic et al., 2015 ). The success of this enzymatic model explaining systemic phenotypes in Menkes disease has been extended to the neurological symptoms in Menkes disease ( Zlatic et al., 2015 ). It has been proposed that defective enzymatic activities of cytochrome c oxidase, dopamine β-monooxygenase, and peptidyl-α−amidating monooxygenase are responsible for the nervous system defects in Menkes disease ( Menkes, 1988 , Zlatic et al., 2015 ). These enzymes play major roles in mitochondrial respiration, neurotransmitter, and neuropeptide biosynthesis respectively. We termed this enzymatic model of neurological phenotypes the oligoenzymatic hypothesis, which we consider insufficient to explain Menkes neuropathology ( Kaler, 2011 , Menkes, 1999 , Zlatic et al., 2015 ). In fact, the interactome of the Menkes ATPase ATP7A and the proteome of ATP7A null cells are enriched in gene products involved in neurodegenerative and neurodevelopmental diseases, suggesting a larger complexity to the pathogenesis mechanisms in Menkes neurological disease ( Comstra et al., 2017 , Hartwig et al., 2019 , Zlatic et al., 2018 ).

Copper-Dependent Enzymes and Phenotypes Associated in Menkes Disease

Adapted from ( Harris, 2013 , Tumer and Moller, 2010 , Zlatic et al., 2015 ).

Despite the fact that Menkes disease is a rare genetic disease, we believe Menkes continues to be a tool to uncover novel and fundamental knowledge regarding mechanisms underlying metal-dependent neurodegeneration in common diseases. Copper imbalances exacerbate the magnitude and progression of neurodegenerative diseases ( Davies et al., 2014 , Davies et al., 2016 , Dusek et al., 2015 , Lorincz, 2010 ), with even minimal exposure to copper at dietary levels sufficient to trigger neuropathology and cognitive decline ( Sparks and Schreurs, 2003 ). Menkes is also a model to identify mechanisms shared with neurodegenerative and neurodevelopmental diseases where environmental exposures, such as redox active metals, are powerful risk factors. For example, copper content alterations are often found in neurodegenerative diseases such as in Parkinson and Parkinsonism ( Davies et al., 2014 , Davies et al., 2016 , Dusek et al., 2015 , Genoud et al., 2019 , Lorincz, 2010 ). Thus, as is the case in other rare diseases, the study of Menkes disease has the potential to intersect with and reveal new mechanisms associated with prevalent diseases.

Conclusions

The lessons that rare genetic diseases teach us continue to affirm the dictums of Harvey and Garrod: We can do “ discovery of the usual law of Nature by careful investigation of cases of rarer forms of disease ”. Rare genetic diseases disproportionately affect the nervous system of children with devastating effects. Paradoxically, the majority of the disease-causing genes affecting the child belong to genes present from the last common eukaryote and ubiquitously expressed in human tissues. Thus, whether we study a mutation in a yeast, fly, or a human, we argue we are in essence studying the same principles across the radiating richness given to us by evolution.

The concept of rare diseases focuses on a seemingly low percentage of people affected by a single affliction. Collectively, however, these rare diseases affect nearly 4% of the people during their lifetime. We predict that the numbers of patients with rare disease will dramatically increase in the new era of the truly rare disease: the disease of one-and-only-one individual. This concept is intrinsic to the idea of personalized medicine ( Collins and Varmus, 2015 ). If personalized medicine delivers on its promises, the future of medicine is bound for the study and treatment of the rarest of all diseases, the disease of the “I” rather than the “us.” The principles that we have articulated for rare diseases here will be equally applicable for personalized medicine. The richest horizon for biological exploration may be just around the corner, where the information of every human genome will be tied to the individual's normal or pathological traits.

Acknowledgments

This work was supported by grants from the National Institutes of Health 1RF1AG060285, the Rett Syndrome Research Trust, and the Loulou Foundation to V.F. We are grateful to the patients affected by Menkes disease, 22q11.2 microdeletion syndrome, Rett syndrome and CDKL5-deficiency syndrome and their families who continually inspire our work. We are indebted to the Faundez lab members for their comments.

Author Contributions

C.E.L., Writing—Review & Editing and Conceptualization.

K.S.S., Writing—Review & Editing.

M.W., Writing—Review & Editing and Visualization.

V.F., Writing—Original Draft, Conceptualization, Investigation, Visualization, Funding Acquisition.

• Bargiello T.A., Jackson F.R., Young M.W. Restoration of circadian behavioural rhythms by gene transfer in Drosophila. Nature. 1984; 312 :752–754. [ PubMed ] [ Google Scholar ]
• Barshir R., Shwartz O., Smoly I.Y., Yeger-Lotem E. Comparative analysis of human tissue interactomes reveals factors leading to tissue-specific manifestation of hereditary diseases. PLoS Comput. Biol. 2014; 10 :e1003632. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Bindea G., Mlecnik B., Hackl H., Charoentong P., Tosolini M., Kirilovsky A., Fridman W.H., Pages F., Trajanoski Z., Galon J. ClueGO: a Cytoscape plug-in to decipher functionally grouped gene ontology and pathway annotation networks. Bioinformatics. 2009; 25 :1091–1093. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Boat T.F. Natl Academies Press; 2015. RARE DISEASES and ORPHAN PRODUCTS Accelerating Research and Development Summary. [ PubMed ] [ Google Scholar ]
• Bossi A., Lehner B. Tissue specificity and the human protein interaction network. Mol. Syst. Biol. 2009; 5 :260. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Boycott K.M., Rath A., Chong J.X., Hartley T., Alkuraya F.S., Baynam G., Brookes A.J., Brudno M., Carracedo A., den Dunnen J.T. International cooperation to enable the diagnosis of all rare genetic diseases. Am. J. Hum.Genet. 2017; 100 :695–705. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Carvalho-Santos Z., Azimzadeh J., Pereira-Leal J.B., Bettencourt-Dias M. Evolution: tracing the origins of centrioles, cilia, and flagella. J. Cell Biol. 2011; 194 :165–175. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Chelly J., Tumer Z., Tonnesen T., Petterson A., Ishikawa-Brush Y., Tommerup N., Horn N., Monaco A.P. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat. Genet. 1993; 3 :14–19. [ PubMed ] [ Google Scholar ]
• Collins F.S., Varmus H. A new initiative on precision medicine. N. Engl. J. Med. 2015; 372 :793–795. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Comstra H.S., McArthy J., Rudin-Rush S., Hartwig C., Gokhale A., Zlatic S.A., Blackburn J.B., Werner E., Petris M., D’Souza P. The interactome of the copper transporter ATP7A belongs to a network of neurodevelopmental and neurodegeneration factors. Elife. 2017; 6 :e24722. doi: 10.7554/eLife.24722. [ PMC free article ] [ PubMed ] [ CrossRef ] [ Google Scholar ]
• Cutillo C.M., Austin C.P., Groft S.C. A global approach to rare diseases research and orphan products development: the international rare diseases research Consortium (IRDiRC) Adv. Exp. Med. Biol. 2017; 1031 :349–369. [ PubMed ] [ Google Scholar ]
• Danks D.M., Campbell P.E., Stevens B.J., Mayne V., Cartwright E. Menkes's kinky hair syndrome.An inherited defect in copper absorption with widespread effects. Pediatrics. 1972; 50 :188–201. [ PubMed ] [ Google Scholar ]
• Das S., Levinson B., Vulpe C., Whitney S., Gitschier J., Packman S. Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. Am. J. Hum. Genet. 1995; 56 :570–576. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Davies K.M., Bohic S., Carmona A., Ortega R., Cottam V., Hare D.J., Finberg J.P., Reyes S., Halliday G.M., Mercer J.F. Copper pathology in vulnerable brain regions in Parkinson's disease. Neurobiol. Aging. 2014; 35 :858–866. [ PubMed ] [ Google Scholar ]
• Davies K.M., Mercer J.F., Chen N., Double K.L. Copper dyshomoeostasis in Parkinson's disease: implications for pathogenesis and indications for novel therapeutics. Clin. Sci. (Lond.) 2016; 130 :565–574. [ PubMed ] [ Google Scholar ]
• Doncheva N.T., Assenov Y., Domingues F.S., Albrecht M. Topological analysis and interactive visualization of biological networks and protein structures. Nat. Protoc. 2012; 7 :670–685. [ PubMed ] [ Google Scholar ]
• Dong J., Horvath S. Understanding network concepts in modules. BMC Syst. Biol. 2007; 1 :24. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Dusek P., Roos P.M., Litwin T., Schneider S.A., Flaten T.P., Aaseth J. The neurotoxicity of iron, copper and manganese in Parkinson's and Wilson's diseases. J. Trace Elem. Med. Biol. 2015; 31 :193–203. [ PubMed ] [ Google Scholar ]
• Fagerberg L., Hallstrom B.M., Oksvold P., Kampf C., Djureinovic D., Odeberg J., Habuka M., Tahmasebpoor S., Danielsson A., Edlund K. Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. Mol. Cell Proteomics. 2014; 13 :397–406. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Fajans S.S., Bell G.I., Polonsky K.S. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N. Engl. J. Med. 2001; 345 :971–980. [ PubMed ] [ Google Scholar ]
• Franz M., Rodriguez H., Lopes C., Zuberi K., Montojo J., Bader G.D., Morris Q. GeneMANIA update 2018. Nucleic Acids Res. 2018; 46 :W60–W64. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Freeman L.C. Centrality in social networks: conceptual clarification. Soc. Netw. 1979; 1 :215–239. [ Google Scholar ]
• Gahl W.A., Mulvihill J.J., Toro C., Markello T.C., Wise A.L., Ramoni R.B., Adams D.R., Tifft C.J., Udn The NIH undiagnosed diseases Program and network: applications to modern medicine. Mol. Genet. Metab. 2016; 117 :393–400. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Garrod A. The lessons of rare maladies. Lancet. 1928; 211 :1055–1061. [ Google Scholar ]
• Genoud S., Senior A.M., Hare D.J., Double K.L. Meta-analysis of copper and iron in Parkinson's disease brain and biofluids. Move.Disord. 2019; 35 :662–671. [ PubMed ] [ Google Scholar ]
• Gerber S.H., Sudhof T.C. Molecular determinants of regulated exocytosis. Diabetes. 2002; 51 :S3–S11. [ PubMed ] [ Google Scholar ]
• Gokhale A., Hartwig C., Freeman A.A.H., Bassell J.L., Zlatic S.A., Sapp Savas C., Vadlamudi T., Abudulai F., Pham T.T., Crocker A. Systems analysis of the 22q11.2 microdeletion syndrome converges on a mitochondrial interactome necessary for synapse function and behavior. J. Neurosci. 2019; 39 :3561–3581. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Gokhale A., Larimore J., Werner E., So L., Moreno-De-Luca A., Lese-Martin C., Lupashin V.V., Smith Y., Faundez V. Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles complex 1. J. Neurosci. 2012; 32 :3697–3711. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Gorman G.S., Chinnery P.F., DiMauro S., Hirano M., Koga Y., McFarland R., Suomalainen A., Thorburn D.R., Zeviani M., Turnbull D.M. Mitochondrial diseases. Nat. Rev. Dis. Primers. 2016; 2 :16080. [ PubMed ] [ Google Scholar ]
• Grimes A., Hearn C.J., Lockhart P., Newgreen D.F., Mercer J.F. Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease. Hum. Mol. Genet. 1997; 6 :1037–1042. [ PubMed ] [ Google Scholar ]
• Gu Y.H., Kodama H., Shiga K., Nakata S., Yanagawa Y., Ozawa H. A survey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis. J. Inherit. Metab. Dis. 2005; 28 :473–478. [ PubMed ] [ Google Scholar ]
• Haendel M., Vasilevsky N., Unni D., Bologa C., Harris N., Rehm H., Hamosh A., Baynam G., Groza T., McMurry J. How many rare diseases are there? Nat. Rev. Drug Discov. 2020; 19 :77–78. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Haffner M.E. Adopting orphan drugs--two dozen years of treating rare diseases. N. Engl. J. Med. 2006; 354 :445–447. [ PubMed ] [ Google Scholar ]
• Han Y.W. Fusobacterium nucleatum: a commensal-turned pathogen. Curr. Opin. Microbiol. 2015; 23 :141–147. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Harris E.D. Copper, biological functions. In: Kretsinger R.H., Uversky V.N., Permyakov E.A., editors. Encyclopedia of Metalloproteins. Springer New York; 2013. pp. 718–723. [ Google Scholar ]
• Hartwell L.H. Saccharomyces cerevisiae cell cycle. Bacteriol. Rev. 1974; 38 :164–198. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Hartwell L.H., Culotti J., Reid B. Genetic control of the cell-division cycle in yeast. I. Detection of mutants. Proc. Natl. Acad. Sci. U S A. 1970; 66 :352–359. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Hartwell L.H., Kastan M.B. Cell cycle control and cancer. Science. 1994; 266 :1821–1828. [ PubMed ] [ Google Scholar ]
• Hartwig C., Zlatic S.A., Wallin M., Vrailas-Mortimer A., Fahrni C.J., Faundez V. Trafficking mechanisms of P-type ATPase copper transporters. Curr. Opin. Cell Biol. 2019; 59 :24–33. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Hunt D.M. Primary defect in copper transport underlies mottled mutants in the mouse. Nature. 1974; 249 :852–854. [ PubMed ] [ Google Scholar ]
• Huttlin E.L., Bruckner R.J., Navarrete-Perea J., Cannon J.R., Baltier K., Gebreab F., Gygi M.P., Thornock A., Zarraga G., Tam S. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. bioRxiv. 2020 doi: 10.1101/2020.01.19.905109. [ PMC free article ] [ PubMed ] [ CrossRef ] [ Google Scholar ]
• Hyde K.J., Schust D.J. Genetic considerations in recurrent pregnancy loss. Cold Spring Harb. Perspect..Med. 2015; 5 :a023119. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Jeong H., Mason S.P., Barabasi A.L., Oltvai Z.N. Lethality and centrality in protein networks. Nature. 2001; 411 :41–42. [ PubMed ] [ Google Scholar ]
• Kaler S.G. ATP7A-related copper transport diseases-emerging concepts and future trends. Nat. Rev. Neurol. 2011; 7 :15–29. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Kaler S.G., Gallo L.K., Proud V.K., Percy A.K., Mark Y., Segal N.A., Goldstein D.S., Holmes C.S., Gahl W.A. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat. Genet. 1994; 8 :195–202. [ PubMed ] [ Google Scholar ]
• Kaplan F.S., Chakkalakal S.A., Shore E.M. Fibrodysplasia ossificans progressiva: mechanisms and models of skeletal metamorphosis. Dis. Model. Mech. 2012; 5 :756–762. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Kennerson M.L., Nicholson G.A., Kaler S.G., Kowalski B., Mercer J.F., Tang J., Llanos R.M., Chu S., Takata R.I., Speck-Martins C.E. Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am. J. Hum. Genet. 2010; 86 :343–352. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Kim M.S., Pinto S.M., Getnet D., Nirujogi R.S., Manda S.S., Chaerkady R., Madugundu A.K., Kelkar D.S., Isserlin R., Jain S. A draft map of the human proteome. Nature. 2014; 509 :575–581. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Klein C., Gahl W.A. Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments. EMBO Mol. Med. 2018; 10 :1–3. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Kohler S., Vasilevsky N.A., Engelstad M., Foster E., McMurry J., Ayme S., Baynam G., Bello S.M., Boerkoel C.F., Boycott K.M. The human phenotype ontology in 2017. Nucleic Acids Res. 2017; 45 :D865–D876. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Konopka R.J., Benzer S. Clock mutants of Drosophila melanogaster. Proc. Natl. Acad. Sci. U S A. 1971; 68 :2112–2116. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Koumandou V.L., Wickstead B., Ginger M.L., van der Giezen M., Dacks J.B., Field M.C. Molecular paleontology and complexity in the last eukaryotic common ancestor. Crit. Rev. Biochem. Mol. Biol. 2013; 48 :373–396. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Kuehn B.M. NIH's Undiagnosed Diseases Program reports on successes, challenges. JAMA. 2011; 306 :2657–2658. [ PubMed ] [ Google Scholar ]
• Lachmann A., Torre D., Keenan A.B., Jagodnik K.M., Lee H.J., Wang L., Silverstein M.C., Ma'ayan A. Massive mining of publicly available RNA-seq data from human and mouse. Nat. Commun. 2018; 9 :1366. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Li Y., Calvo S.E., Gutman R., Liu J.S., Mootha V.K. Expansion of biological pathways based on evolutionary inference. Cell. 2014; 158 :213–225. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Lin W.H., Liu W.C., Hwang M.J. Topological and organizational properties of the products of house-keeping and tissue-specific genes in protein-protein interaction networks. BMC Syst. Biol. 2009; 3 :32. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Lorincz M.T. Neurologic Wilson's disease. Ann. N. Y. Acad. Sci. 2010; 1184 :173–187. [ PubMed ] [ Google Scholar ]
• Luck K., Kim D.-K., Lambourne L., Spirohn K., Begg B.E., Bian W., Brignall R., Cafarelli T., Campos-Laborie F.J., Charloteaux B. A reference map of the human protein interactome. bioRxiv. 2019 doi: 10.1101/605451. [ PMC free article ] [ PubMed ] [ CrossRef ] [ Google Scholar ]
• Lutsenko S., Barnes N.L., Bartee M.Y., Dmitriev O.Y. Function and regulation of human copper-transporting ATPases. Physiol. Rev. 2007; 87 :1011–1046. [ PubMed ] [ Google Scholar ]
• Manara R., D'Agata L., Rocco M.C., Cusmai R., Freri E., Pinelli L., Darra F., Procopio E., Mardari R., Zanus C. Neuroimaging changes in Menkes disease, Part 1. AJNR Am. J. Neuroradiol. 2017; 38 :1850–1857. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Menkes J.H. Kinky hair disease: twenty five years later. Brain Dev. 1988; 10 :77–79. [ PubMed ] [ Google Scholar ]
• Menkes J.H. Menkes disease and Wilson disease: two sides of the same copper coin. Part I: Menkes disease. Eur. J. Paediatric Neurol. 1999; 3 :147–158. [ PubMed ] [ Google Scholar ]
• Menkes J.H., Alter M., Steigleder G.K., Weakley D.R., Sung J.H. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics. 1962; 29 :764–779. [ PubMed ] [ Google Scholar ]
• Mercer J.F., Livingston J., Hall B., Paynter J.A., Begy C., Chandrasekharappa S., Lockhart P., Grimes A., Bhave M., Siemieniak D. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nat. Genet. 1993; 3 :20–25. [ PubMed ] [ Google Scholar ]
• Moller L.B., Mogensen M., Horn N. Molecular diagnosis of Menkes disease: genotype-phenotype correlation. Biochimie. 2009; 91 :1273–1277. [ PubMed ] [ Google Scholar ]
• Murrell J., Farlow M., Ghetti B., Benson M.D. A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. Science. 1991; 254 :97–99. [ PubMed ] [ Google Scholar ]
• Nguengang Wakap S., Lambert D.M., Olry A., Rodwell C., Gueydan C., Lanneau V., Murphy D., Le Cam Y., Rath A. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur. J. Hum. Genet. 2020; 28 :165–173. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Novick P., Ferro S., Schekman R. Order of events in the yeast secretory pathway. Cell. 1981; 25 :461–469. [ PubMed ] [ Google Scholar ]
• Novick P., Field C., Schekman R. Identification of 23 complementation groups required for post-translational events in the yeast secretory pathway. Cell. 1980; 21 :205–215. [ PubMed ] [ Google Scholar ]
• Nurse P. Genetic control of cell size at cell division in yeast. Nature. 1975; 256 :547–551. [ PubMed ] [ Google Scholar ]
• Orphanet . Orphadata; 2020. Orphadata. http://www.orphadata.org/cgi-bin/index.php [ Google Scholar ]
• Perez-Cornejo P., Gokhale A., Duran C., Cui Y., Xiao Q., Hartzell H.C., Faundez V. Anoctamin 1 (Tmem16A) Ca2+-activated chloride channel stoichiometrically interacts with an ezrin-radixin-moesin network. Proc. Natl. Acad. Sci. U S A. 2012; 109 :10376–10381. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Petris M.J., Mercer J.F., Culvenor J.G., Lockhart P., Gleeson P.A., Camakaris J. Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking. EMBO J. 1996; 15 :6084–6095. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Polishchuk R., Lutsenko S. Golgi in copper homeostasis: a view from the membrane trafficking field. Histochem. Cell Biol. 2013; 140 :285–295. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Rapoport J.L., Giedd J.N., Gogtay N. Neurodevelopmental model of schizophrenia: update 2012. Mol. Psychiatry. 2012; 17 :1228–1238. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Rodrigues F.A., Costa Lda F. Protein lethality investigated in terms of long range dynamical interactions. Mol. Biosyst. 2009; 5 :385–390. [ PubMed ] [ Google Scholar ]
• Russo R., Esposito M.R., Iolascon A. Inherited hematological disorders due to defects in coat protein (COP)II complex. Am. J. Hematol. 2013; 88 :135–140. [ PubMed ] [ Google Scholar ]
• Sanders S.J., Sahin M., Hostyk J., Thurm A., Jacquemont S., Avillach P., Douard E., Martin C.L., Modi M.E., Moreno-De-Luca A. A framework for the investigation of rare genetic disorders in neuropsychiatry. Nat. Med. 2019; 25 :1477–1487. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Schieppati A., Henter J.I., Daina E., Aperia A. Why rare diseases are an important medical and social issue. Lancet. 2008; 371 :2039–2041. [ PubMed ] [ Google Scholar ]
• Shannon P., Markiel A., Ozier O., Baliga N.S., Wang J.T., Ramage D., Amin N., Schwikowski B., Ideker T. Cytoscape: a software environment for integrated models of biomolecular interaction networks. Genome Res. 2003; 13 :2498–2504. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Sharma K., Schmitt S., Bergner C.G., Tyanova S., Kannaiyan N., Manrique-Hoyos N., Kongi K., Cantuti L., Hanisch U.K., Philips M.A. Cell type- and brain region-resolved mouse brain proteome. Nat. Neurosci. 2015; 18 :1819–1831. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Shore E.M., Xu M., Feldman G.J., Fenstermacher D.A., Cho T.J., Choi I.H., Connor J.M., Delai P., Glaser D.L., LeMerrer M. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat. Genet. 2006; 38 :525–527. [ PubMed ] [ Google Scholar ]
• Sjostedt E., Fagerberg L., Hallstrom B.M., Haggmark A., Mitsios N., Nilsson P., Ponten F., Hokfelt T., Uhlen M., Mulder J. Defining the human brain proteome using transcriptomics and antibody-based profiling with a focus on the cerebral cortex. PLoS One. 2015; 10 :e0130028. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Soler A., Morales C., Mademont-Soler I., Margarit E., Borrell A., Borobio V., Munoz M., Sanchez A. Overview of chromosome abnormalities in first Trimester miscarriages: aseries of 1,011 Consecutive Chorionic Villi Sample Karyotypes. Cytogenet. Genome Res. 2017; 152 :81–89. [ PubMed ] [ Google Scholar ]
• Sparks D.L., Schreurs B.G. Trace amounts of copper in water induce beta-amyloid plaques and learning deficits in a rabbit model of Alzheimer's disease. Proc. Natl. Acad. Sci.U S A. 2003; 100 :11065–11069. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Srivastava A., Morgan A.P., Najarian M.L., Sarsani V.K., Sigmon J.S., Shorter J.R., Kashfeen A., McMullan R.C., Williams L.H., Giusti-Rodriguez P. Genomes of the mouse collaborative cross. Genetics. 2017; 206 :537–556. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Takata R.I., Speck Martins C.E., Passosbueno M.R., Abe K.T., Nishimura A.L., Da Silva M.D., Monteiro A., Jr., Lima M.I., Kok F., Zatz M. A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21. J. Med. Genet. 2004; 41 :224–229. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Tumer Z. An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome. Hum. Mutat. 2013; 34 :417–429. [ PubMed ] [ Google Scholar ]
• Tumer Z., Moller L.B. Menkes disease. Eur. J. Hum. Genet. 2010; 18 :511–518. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Uhlen M., Fagerberg L., Hallstrom B.M., Lindskog C., Oksvold P., Mardinoglu A., Sivertsson A., Kampf C., Sjostedt E., Asplund A. Proteomics.Tissue-based map of the human proteome. Science. 2015; 347 :1260419. [ PubMed ] [ Google Scholar ]
• van den Berg M.M., van Maarle M.C., van Wely M., Goddijn M. Genetics of early miscarriage. Biochim. Biophys. Acta. 2012; 1822 :1951–1959. [ PubMed ] [ Google Scholar ]
• Vulpe C., Levinson B., Whitney S., Packman S., Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat. Genet. 1993; 3 :7–13. [ PubMed ] [ Google Scholar ]
• Wang Y., Zhu S., Hodgkinson V., Prohaska J.R., Weisman G.A., Gitlin J.D., Petris M.J. Maternofetal and neonatal copper requirements revealed by enterocyte-specific deletion of the Menkes disease protein. Am. J. Physiol. Gastrointest. Liver Physiol. 2012; 303 :G1236–G1244. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Wastfelt M., Fadeel B., Henter J.I. A journey of hope: lessons learned from studies on rare diseases and orphan drugs. J. Intern. Med. 2006; 260 :1–10. [ PubMed ] [ Google Scholar ]
• Waterham H.R., Ferdinandusse S., Wanders R.J. Human disorders of peroxisome metabolism and biogenesis. Biochim. Biophys. Acta. 2016; 1863 :922–933. [ PubMed ] [ Google Scholar ]
• Waxman H. US Food and Drug Administration; 1983. Orphan Drug Act of 1983. Pub L. No. 97–414, 96 Stat. 2049. [ Google Scholar ]
• Wells A., Kopp N., Xu X., O'Brien D.R., Yang W., Nehorai A., Adair-Kirk T.L., Kopan R., Dougherty J.D. The anatomical distribution of genetic associations. Nucleic Acids Res. 2015; 43 :10804–10820. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Wright C.F., FitzPatrick D.R., Firth H.V. Paediatric genomics: diagnosing rare disease in children. Nat. Rev. Genet. 2018; 19 :253–268. [ PubMed ] [ Google Scholar ]
• Yang L., Wang J., Wang H., Lv Y., Zuo Y., Li X., Jiang W. Analysis and identification of essential genes in humans using topological properties and biological information. Gene. 2014; 551 :138–151. [ PubMed ] [ Google Scholar ]
• Yang L., Wang S., Zhou M., Chen X., Zuo Y., Sun D., Lv Y. Comparative analysis of housekeeping and tissue-selective genes in human based on network topologies and biological properties. Mol. Genet. Genomics. 2016; 291 :1227–1241. [ PubMed ] [ Google Scholar ]
• Yoon J., Blumer A., Lee K. An algorithm for modularity analysis of directed and weighted biological networks based on edge-betweenness centrality. Bioinformatics. 2006; 22 :3106–3108. [ PubMed ] [ Google Scholar ]
• Young M.W. Time travels: a 40-year journey from drosophila's clock mutants to human circadian disorders (Nobel Lecture) Angew. Chem. Int. Ed. 2018; 57 :11532–11539. [ PubMed ] [ Google Scholar ]
• Zimmer C. The Atlantic; 2013. The Girl Who Turned to Bone. [ Google Scholar ]
• Zlatic S., Comstra H.S., Gokhale A., Petris M.J., Faundez V. Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease. Neurobiol. Dis. 2015; 81 :154–161. [ PMC free article ] [ PubMed ] [ Google Scholar ]
• Zlatic S.A., Vrailas-Mortimer A., Gokhale A., Carey L.J., Scott E., Burch R., McCall M.M., Rudin-Rush S., Davis J.B., Hartwig C. Rare disease mechanisms identified by genealogical proteomics of copper homeostasis mutant pedigrees. Cell Syst. 2018; 6 :368–380.e6. [ PMC free article ] [ PubMed ] [ Google Scholar ]

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