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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!

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.

Research Topics

The Center for Genetic Medicine’s faculty members represent 33 departments or programs across three Northwestern University schools and three Feinberg-affiliated healthcare institutions. Faculty use genetics and molecular genetic approaches to understand biological processes for a diverse range of practical and clinical applications.

Select a topic below to learn more and see a list of faculty associated with that type of research. For a full list of Center for Genetic Medicine members, visit our Members section .

Animal Models of Human Disease

Using genetic approaches with model organisms to investigate cellular and physiological processes can lead to improved approaches for detection, prevention and treatment of human diseases.

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Bioinformatics & Statistics

Bioinformatics, a discipline that unites biology, computer science, statistical methods, and information technology, helps researchers understand how genes or parts of genes relate to other genes, and how genes interact to form networks. These studies provide insight to normal cellular functions and how these functions are disturbed by disease. Statistics is central to genetic approaches, providing quantitative support for biological observations, and statistical genetics is heavily used by laboratories performing gene and trait mapping, sequencing and genotyping, epidemiology, population genetics and risk analysis.

Cancer Genetics and Genomics

Cancer begins with genetic changes, or mutations, that disrupt normal regulation of cell proliferation, survival and death. Inherited genetic changes contribute to the most common cancers, like breast and colon cancer, and genetic testing can help identify risks for disease. Tumors also develop additional genetic changes, or somatic mutations, that promote cancer growth and tumor metastases. These genetic changes can be readily defined through DNA and RNA sequencing. Genetic changes within a tumor can be used to develop and guide treatment options.

Cardiovascular Genetics

Cardiovascular disease is one of the leading causes of death in the US, and the risk of cardiovascular disease is highly dependent inherited genetic changes. The most common forms of heart disease including heart failure, arrhythmias, and vascular disease are under heritable genetic changes. We work to identify and understand the functions of genes that affect the risk of developing cardiovascular disease, as well as to understand the function of genes involved in the normal and pathological development of the heart.

Clinical and Therapeutics

Using genetic data identifies pathways for developing new therapies and applying existing therapies. DNA sequencing and epigenetic profiling of tumors helps define the precise defects responsible for cancer progression. We use genetic signals to validate pathways for therapy development. We are using gene editing methods to correct genetic defects. These novel strategies are used to treat patients at Northwestern Memorial Hospital and the Ann & Robert H. Lurie Children's Hospital of Chicago.

Development

The genomic blueprint of a single fertilized egg directs the formation of the entire organism. To understand the cellular processes that allow cells to create organs and whole animals from this blueprint, we use genetic approaches to investigate the development of model organisms and humans. Induced pluripotent stem cells can be readily generated from skin, blood or urine cells and used to mirror human developmental processes. These studies help us define how genes coordinate normal human development and the changes that occur in diseases, with the goal of improving detection, prevention and treatment of human disease.

Epigenetics/Chromatin Structure/Gene Expression

Abnormal gene expression underlies many diseases, including cancer and cardiovascular diseases. We investigate how gene expression is regulated by chromatin structure and other regulators to understand abnormal gene expression in disease, and to learn how to manipulate gene expression for therapeutic purposes.

Gene Editing/Gene Therapy

Gene editing tools like CRISPR/Cas can be used to directly alter the DNA code. This tool is being used to generate cell and animal models of human diseases and disease processes. Gene therapy is being used to treat human disease conditions.

Genetic Counseling

As part of training in genetic counseling, each student completes a thesis project. These projects examine all aspects of genetic counseling ranging from family-based studies to mechanisms of genetic action. With the expansion of genetic testing, genetic counselors are now conducting research on outcomes, cost effectiveness, and quality improvement.

Genetic Determinants of Cellular Biology

Genetic mutations ultimately change the functionality of the cells in which they are found. Mutations in genes encoding nuclear, cytoplasmic and extracellular matrix protein lead to many different human diseases, ranging from neurological and developmental disorders to cancer and heart disease. Using induced pluripotent stem cell and gene-editing technologies, it is now possible to generate and study nearly every human genetic disorder. Having cellular models of disease is necessary to develop new treatments.

Immunology

Many immunological diseases, such as Rheumatoid arthritis, Lupus, scleroderma, and others have a genetic basis. We work to understand how genetic changes and misregulation contribute to immunological diseases, and use genetic approaches to investigate how the immune system functions.

Infectious Disease/Microbiome

The susceptibility and/or pathological consequences of many infectious diseases have a genetic basis. We investigate how human genes interact with infectious diseases, and use genetic approaches to determine the interactions between pathogens and the host. Genetic tools, including deep sequencing, are most commonly used to define the microbiome as it undergoes adaptation and maladaptation to its host environment.

Neuroscience

We work to understand how genes contribute to neurological diseases, and use genetic approaches to investigate how the nervous system functions. Epilepsy, movement disorders, and dementia are heritable and under genetic influence. Neuromuscular diseases including muscular dystrophies and myopathies arise from primary mutations and research in genetic correction is moving into human trials and drug approvals.

Population Genetics/Epidemiology

Genetic data is increasingly available from large human populations and is advancing the population-level understanding of genetic risk. Northwestern participates in All-Of-US, which aims to build a cohort of one million citizens to expand genetic knowledge of human diseases. Race and ancestry have genetic determinants and genetic polymorphisms can help mark disease risks better than other markers of race/ancestry. We use epidemiology and population genetics to investigate the genetic basis of disease, and to assess how genetic diseases affect subgroups within broader populations.

Reproduction

Research is examining how germ cells are specified. We study the broad range of biology required to transmit genetic information from one generation to another, and how to facilitate the process of reproduction when difficulties arise or to avoid passing on mutant genes.

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Research Topics & Ideas

Biotechnology and Genetic Engineering

If you’re just starting out exploring biotechnology-related topics for your dissertation, thesis or research project, you’ve come to the right place. In this post, we’ll help kickstart your research topic ideation process by providing a hearty list of research topics and ideas , including examples from recent studies.

PS – This is just the start…

We know it’s exciting to run through a list of research topics, but please keep in mind that this list is just a starting point . To develop a suitable research topic, you’ll need to identify a clear and convincing research gap , and a viable plan to fill that gap.

If this sounds foreign to you, check out our free research topic webinar that explores how to find and refine a high-quality research topic, from scratch. Alternatively, if you’d like hands-on help, consider our 1-on-1 coaching service .

Biotechnology Research Topic Ideas

Below you’ll find a list of biotech and genetic engineering-related research topics ideas. These are intentionally broad and generic , so keep in mind that you will need to refine them a little. Nevertheless, they should inspire some ideas for your project.

Developing CRISPR-Cas9 gene editing techniques for treating inherited blood disorders.
The use of biotechnology in developing drought-resistant crop varieties.
The role of genetic engineering in enhancing biofuel production efficiency.
Investigating the potential of stem cell therapy in regenerative medicine for spinal cord injuries.
Developing gene therapy approaches for the treatment of rare genetic diseases.
The application of biotechnology in creating biodegradable plastics from plant materials.
The use of gene editing to enhance nutritional content in staple crops.
Investigating the potential of microbiome engineering in treating gastrointestinal diseases.
The role of genetic engineering in vaccine development, with a focus on mRNA vaccines.
Biotechnological approaches to combat antibiotic-resistant bacteria.
Developing genetically engineered organisms for bioremediation of polluted environments.
The use of gene editing to create hypoallergenic food products.
Investigating the role of epigenetics in cancer development and therapy.
The application of biotechnology in developing rapid diagnostic tools for infectious diseases.
Genetic engineering for the production of synthetic spider silk for industrial use.
Biotechnological strategies for improving animal health and productivity in agriculture.
The use of gene editing in creating organ donor animals compatible with human transplantation.
Developing algae-based bioreactors for carbon capture and biofuel production.
The role of biotechnology in enhancing the shelf life and quality of fresh produce.
Investigating the ethics and social implications of human gene editing technologies.
The use of CRISPR technology in creating models for neurodegenerative diseases.
Biotechnological approaches for the production of high-value pharmaceutical compounds.
The application of genetic engineering in developing pest-resistant crops.
Investigating the potential of gene therapy in treating autoimmune diseases.
Developing biotechnological methods for producing environmentally friendly dyes.

Biotech & GE Research Topic Ideas (Continued)

The use of genetic engineering in enhancing the efficiency of photosynthesis in plants.
Biotechnological innovations in creating sustainable aquaculture practices.
The role of biotechnology in developing non-invasive prenatal genetic testing methods.
Genetic engineering for the development of novel enzymes for industrial applications.
Investigating the potential of xenotransplantation in addressing organ donor shortages.
The use of biotechnology in creating personalised cancer vaccines.
Developing gene editing tools for combating invasive species in ecosystems.
Biotechnological strategies for improving the nutritional quality of plant-based proteins.
The application of genetic engineering in enhancing the production of renewable energy sources.
Investigating the role of biotechnology in creating advanced wound care materials.
The use of CRISPR for targeted gene activation in regenerative medicine.
Biotechnological approaches to enhancing the sensory qualities of plant-based meat alternatives.
Genetic engineering for improving the efficiency of water use in agriculture.
The role of biotechnology in developing treatments for rare metabolic disorders.
Investigating the use of gene therapy in age-related macular degeneration.
The application of genetic engineering in developing allergen-free nuts.
Biotechnological innovations in the production of sustainable and eco-friendly textiles.
The use of gene editing in studying and treating sleep disorders.
Developing biotechnological solutions for the management of plastic waste.
The role of genetic engineering in enhancing the production of essential vitamins in crops.
Biotechnological approaches to the treatment of chronic pain conditions.
The use of gene therapy in treating muscular dystrophy.
Investigating the potential of biotechnology in reversing environmental degradation.
The application of genetic engineering in improving the shelf life of vaccines.
Biotechnological strategies for enhancing the efficiency of mineral extraction in mining.

Recent Biotech & GE-Related Studies

While the ideas we’ve presented above are a decent starting point for finding a research topic in biotech, they are fairly generic and non-specific. So, it helps to look at actual studies in the biotech space to see how this all comes together in practice.

Below, we’ve included a selection of recent studies to help refine your thinking. These are actual studies, so they can provide some useful insight as to what a research topic looks like in practice.

Genetic modifications associated with sustainability aspects for sustainable developments (Sharma et al., 2022)
Review On: Impact of Genetic Engineering in Biotic Stresses Resistance Crop Breeding (Abebe & Tafa, 2022)
Biorisk assessment of genetic engineering — lessons learned from teaching interdisciplinary courses on responsible conduct in the life sciences (Himmel et al., 2022)
Genetic Engineering Technologies for Improving Crop Yield and Quality (Ye et al., 2022)
Legal Aspects of Genetically Modified Food Product Safety for Health in Indonesia (Khamdi, 2022)
Innovative Teaching Practice and Exploration of Genetic Engineering Experiment (Jebur, 2022)
Efficient Bacterial Genome Engineering throughout the Central Dogma Using the Dual-Selection Marker tetAOPT (Bayer et al., 2022)
Gene engineering: its positive and negative effects (Makrushina & Klitsenko, 2022)
Advances of genetic engineering in streptococci and enterococci (Kurushima & Tomita, 2022)
Genetic Engineering of Immune Evasive Stem Cell-Derived Islets (Sackett et al., 2022)
Establishment of High-Efficiency Screening System for Gene Deletion in Fusarium venenatum TB01 (Tong et al., 2022)
Prospects of chloroplast metabolic engineering for developing nutrient-dense food crops (Tanwar et al., 2022)
Genetic research: legal and ethical aspects (Rustambekov et al., 2023). Non-transgenic Gene Modulation via Spray Delivery of Nucleic Acid/Peptide Complexes into Plant Nuclei and Chloroplasts (Thagun et al., 2022)
The role of genetic breeding in food security: A review (Sam et al., 2022). Biotechnology: use of available carbon sources on the planet to generate alternatives energy (Junior et al., 2022)
Biotechnology and biodiversity for the sustainable development of our society (Jaime, 2023) Role Of Biotechnology in Agriculture (Shringarpure, 2022)
Plants That Can be Used as Plant-Based Edible Vaccines; Current Situation and Recent Developments (İsmail, 2022)

As you can see, these research topics are a lot more focused than the generic topic ideas we presented earlier. So, in order for you to develop a high-quality research topic, you’ll need to get specific and laser-focused on a specific context with specific variables of interest. In the video below, we explore some other important things you’ll need to consider when crafting your research topic.

Get 1-On-1 Help

If you’re still unsure about how to find a quality research topic, check out our Research Topic Kickstarter service, which is the perfect starting point for developing a unique, well-justified research topic.

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50 ideas to change science: Genetics

6 October 2010

(Image: Hybrid Medical Animation/SPL)

Read more: 50 ideas to change science forever

After the genome, it’s time for the next level: the interactome and phenome. Expect biotech wizardry and a stream of Jurassic Park headlines along the way

The 1000 Genomes Project

A catalogue of human variation

The mapping of the human genome, largely completed 10 years ago, was a remarkable feat. But if genomics is to fulfil its potential, for example in combating disease, we need to know how much DNA sequences vary between individuals.

Within the next few years we should do. The 1000 Genomes Project, a private-public consortium established in 2008, aims to create a detailed map of human genetic variation. Pilot projects involving 885 people were completed in June this year and identified about 16 million DNA variations, half of them not previously identified. That suggests there may be around 60 million such variations to be found.

The full project, analysing the genomes of 2500 people from 27 populations across the world, is now under way. The growing dataset is freely available online at www.1000genomes.org .

Palaeogenetics

DNA blueprints from the past

Until recently, we thought it would be impossible to decode the genetic blueprint of an extinct organism. In May this year, though, an international team published the full genome of a Neanderthal ( Science , vol 328, p 710 ). What changed?

Faster and cheaper DNA sequencing, mainly. Processing thousands or millions of sequences at once has allowed palaeogeneticists to piece together damaged DNA and discard degraded sections. They can also pull out the 5 per cent from a fossil sample that actually belongs to an ancient species, rather than subsequent bacterial contamination, by matching it up with DNA from a related, extant species. In the past five years, this has delivered genomes for several iconic species including a 40,000-year-old cave bear, a mammoth and now a Neanderthal.

What does this tell us? A lot about our own family tree, for a start. The idea that ancient DNA sequences could be used to revive long-extinct beasts à la Jurassic Park is more fanciful, but we should never say never .

Interactomes

Mapping cellular complexity

Proteins and RNAs, the molecules encoded by genes, rarely act in isolation. Some proteins associate with other proteins, either to regulate them or to form larger cellular machines. Others perform specific tasks by binding to particular DNA sequences, or linking themselves tightly to RNA molecules.

Throughout the 20th century, this incredibly dense web of interactions – dubbed the “interactome” in allusion to the genome – remained impenetrable. In the last decade, however, complete genome-sequence information and increasingly powerful bioinformatic tools have allowed us to generate and analyse draft interactome maps both for humans and for other model organisms.

Although still far from complete, these maps are poised to serve as scaffolds for newly sophisticated models of how cells operate. Since many human diseases can be explained by perturbations of molecular interactions within cells, interactomes will drastically change how we think about human health, and how we set about designing drugs and preventive measures to counter illness. Marc Vidal

Marc Vidal is a professor of genetics at Harvard Medical School and director of the Center for Cancer Systems Biology (CCSB) at the Dana-Farber Cancer Institute in Boston

There’s more to life than genomes

If we want truly to understand the living world, the genome won’t do. We need to get to grips with the “phenome”: the sum total of all traits, from genes to behaviour, that make up a living thing.

If you think that sounds tough, you’d be right. Think about your own phenome. There are obvious traits such as eye colour, height and facial features. Then there are more intangible things such as your metabolic rate, personality, susceptibility to Alzheimer’s disease, and trillions of others. All of these came about through the interaction of your genome and your environment, starting from the moment you were conceived.

That complexity perhaps explains why there is as yet no “human phenome project”, though such a thing was first mooted in 2003. But smaller-scale projects such as the Mouse Phenome Database are now springing up. From personalised medicine to our understanding of evolution, science will be the beneficiary.

DNA origami

Life as a template

The stuff of life is sticky: put the right DNA base pairs together and they bond like Velcro. Take long single strands of DNA and throw in some shorter synthesised strands, and the bonds on the short strands can pull the long strands into specific shapes and hold them all together.

This “DNA origami” technique is one of the most promising of many ways to make molecules self-assemble into 3D structures. It has been used to make a bewildering variety of objects, from toothed gears to 3D boxes with a lock-and-key mechanism. Ultimately, the hope is to use such boxes for drug delivery, and to exploit the folding and unfolding of biomolecules to make nanoscale computer components.

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Genetic diseases affect millions of Americans every day, and research is key to improving our ability to diagnose and treat these diseases. At the National Human Genome Research Institute, our researchers are creating foundational tools and methods to expand genomics research, ultimately leading to medical breakthroughs.

The Democratizing Education for Sickle Cell Disease Gene Therapy project utilizes a deliberative stakeholder-engagement approach to develop patient educational materials for sickle cell disease gene therapy.

The goal of our Caregiving Study is to understand how caregivers manage the demands of caring for a loved one with a long-term health condition and how social relationships affect caregivers' ability to cope.

A photo atlas of individuals from diverse populations who are affected by malformation syndromes.

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A manually-curated database of all conditions with known genetic causes, focusing on the utility of genetic/genomic diagnosis and the availability of disease-specific interventions.

A curated database of validated CRISPR targets in zebrafish.

An NHGRI-funded research project that helps you and your family learn how your family health history affects your risk for diseases.

An annotated collection of non-redundant protein sequences, three-dimensional structures, and genomic information for the homeodomain protein family.

Access to preliminary sequence data and related information on Hydractinia, a model system for the study of fundamental biological processes.

Standardized terms used to describe human morphology developed by an international group of clinicians working in the field of dysmorphology.

Access to the annotated Mnemiopsis genomic sequence, the first set of publicly available whole-genome sequencing data from any ctenophore species.

A large, multi-disciplinary research collaboration to examine the effects of genetic susceptibility testing for several common health conditions.

Information for researchers and dog owners interested in finding the genetic basis of morphologic traits, behaviors, or diseases in the domestic dog.

Information for professionals and families caring for or affected by Pallister-Hall Syndrome.

A centralized, comprehensive resource of published scientific data relevant to pigment cell biology.

A database containing confirmed mutations to inherited disorders of the erythrocyte membrane associated with hemolytic anemia.

A Web-based, searchable collection of zebrafish mutations generated by DNA insertion.

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Fall 2021 projects, previous projects.

Biology Research Projects for High School Students: 20 Ideas To Try This Summer

By János Perczel

Co-founder of Polygence, PhD from MIT

16 minute read

Biology and biomedical research are two of the most popular academic disciplines among high schoolers. If you’re someone who’s interested in those fields and you’re looking for research opportunities this summer, you’ve come to the right place! With the study of biology, not only can you gain a better understanding of the natural world, but your research can have practical applications in fields like medicine, agriculture, and environmental science. Whether you’re just starting out in your exploration of biology, have taken a biology class in school, or you’re looking to do some advanced research to submit to your state’s science fair , we have level-appropriate ideas for you!

With a variety of topics like cancer treatment, genetics, neurodegenerative diseases, and marine life, we’ve got you covered. Here is a curated list of 20 different research project ideas to get those creative juices flowing. If you’re hungry for more, head over to our comprehensive Project Ideas database here and browse over 2800 more ideas!

Research YOUR fave areas of Biology and Medicine

Polygence pairs you with an expert mentor in to create a passion project around biology and medicine. Together, you work to create a high quality research project that is uniquely your own. We also offer options to explore multiple topics, or to showcase your final product!

Human Body Project Ideas

Rate of cognitive decline in different elevations.

Oxygen partial pressure decreases with altitude, challenging blood oxygenation which may affect brain function. If you’ve ever felt some altitude sickness, then this is exactly what’s happening. This is because the atmospheric pressure decreases at higher elevations, leading to a decrease in the partial pressures of the gasses in the air, including oxygen. And of course, oxygen is needed for us to function. What is the effect on brain health/ cognition in sudden increased elevation: say, climbing Mount Everest? Does chronic exposure to high elevations increase the likelihood of dementia? In this project, a meta-analysis of published works examining the effects of altitude on cognition would be conducted.

Idea by mentor Alyssa

Building a Blood Vessel

Use online graphics to illustrate how a blood vessel forms. Blood vessels are structures that carry blood and are responsible for transporting nutrients and oxygen throughout the body. There are three main types of blood vessels: arteries, veins, and capillaries. For this project, complete a literature search to understand what is known about blood vessel growth. Then, utilize this information to generate a graphic with no words to demonstrate how the vasculature (network of blood vessels) forms. The goal of this project is to explain science without using text and therefore make it more available to a larger community.

Idea by mentor Natalie

Examining the bacterial profile of various households

As of late, bacterial microbiomes have been a huge and interesting topic in the field of bacteriology as they play an important role in human health. Bacterial microbiomes are communities of bacteria that live on or outside organisms. They’re found in various parts of the human body, and help us to digest food and regulate our immune system. In this project, you will seek to understand how skin microbiomes can differ between different individuals of different households. This project will require making different bacterial media that can be made at home selecting for various microorganisms. If you’re new to preparing bacterial media, check out this resource here!

Idea by mentor Hamilton

Regulation of Circadian Clocks

Sleep is known to be governed by two distinct processes: a circadian clock that aligns sleep and wakefulness to the solar day and the sleep homeostat that encodes for sleep debt as a compensatory mechanism against sleep loss. You’ve most likely heard about circadian rhythm and our body’s internal clock, and circadian regulation of sleep is a fundamental process that allows animals to anticipate sleepiness or wakefulness consistently every day. These mechanisms can be regulated in multiple ways: at the gene, protein, gene, and clock neuronal level. In this project, we will focus on 1) how to efficiently digest primary and review articles to compile and condense information, 2) investigate how circadian clocks are regulated at these different genetic levels, and 3) try to effectively summarize the information we've gathered. We can present this information in a variety of ways, and what the final product looks like is up to you.

Idea by mentor Oscar

The Biology of Aging

Aging is the number one risk factor for a variety of diseases including cancer, neurodegenerative disease, and loss of hearing/sight. We are only now beginning to truly understand the process of aging and have even started to uncover ways that we could stop, or potentially reverse, the effects of aging. What are the hallmarks/signs of aging? How do researchers study 'aging'? How does human lifespan and aging compare to the rest of the animal kingdom? Is it possible to stop or reverse the effects of aging? What advancements are being made related to this? We could explore these questions or brainstorm others you might have about the biology of aging.

Idea by mentor Emily

Animals, Plants, and Nature Project Ideas

How genetically engineered mosquitoes are reducing rates of vector-borne diseases such as zika.

Many countries are already releasing millions of genetically engineered mosquitoes into the wild every week. These mosquitoes have been modified to reduce their ability to transmit disease-causing pathogens like dengue fever, Zika, and malaria, and are sent into the wild to mate with disease-carrying mosquitoes. However, this is still controversial as some people are concerned about the unintended consequences on the environment. What could be the potential pros and cons for this? The project will mainly focus on doing meta analysis of articles and watching informative videos to understand how/why genetically engineered mosquitoes can be used to reduce rates of different diseases. Students will have the chance to use critical thinking and do in-depth research on genetic engineering techniques, how scientists determine breeding rates and number of insects released, and epidemiology of different bloodborne diseases.

Idea by mentor Vanessa

Efficacy of Marine Protected Areas

Marine protected areas (MPAs) are areas of ocean or coastal waters that are set aside for the conservation and sustainable use of marine resources. These areas are established by governments, NGOs, or other organizations, and they can take different forms, from fully protected "no-take" zones to areas with regulated fishing or other activities. Marine protected areas have the potential to guide sustainable resource management and protect biodiversity, but have a host of reasons for why they are not currently effective. Explore reasons for why MPAs may not be effective. Then develop a framework for mapping, modeling, and implementing an effective Marine Protected Area.

Bioinspiration: Do animals hold the answers?

Can the toxins produced by frogs help us fight antibiotic resistant bacteria strains? How can understanding how lizards and newts regrow their limbs help us improve wound treatment? Why do tilapia skins help with burns? Discover the role of animals in the development of modern medicine as well as its potential. Are there any ethical concerns with these developments and findings? If so, what are they and do they matter? Share your findings in a research proposal, article, or presentation.

Idea by mentor Cheyenne

How Climate Change Can Affect Future Distributions of Rare Species

Climate change, such as global warming and longer drought, can threaten the existence of some of the rarest plants on earth. It is important to understand how future suitable habitats will change for these rare species so that we can target our conservation efforts in specific areas. In this project, you will identify a rare species that you like (it can be animals, plants, or fungi!), and gather the data online on its current occurrences. Then you will learn how to perform species distribution modeling to map its current and future suitable habitat areas. To get you started on learning species distribution modeling, check out this Youtube resource here. The changes in the amount or location of future suitable habitats can significantly affect the destiny of a rare species. By doing this project, you will not only learn skills in data analyses but also become the best ambassador for this rare species that you love.

Idea by mentor Yingtong

A Reef’s Best Frenemies

Coral reefs are in global decline. A primary cause of this is "coral bleaching" which results in the white reefs we often see in the news. Coral bleaching is actually the breakdown in the partnership between the coral animal and tiny, symbiotic algae that live within its cells. Corals and algae have a variety of thermal tolerances which are likely decided by genetic and environmental factors. However, despite how important this relationship is, it's currently very poorly understood. This project would review existing literature on the symbiotic partnernship and try to identify factors that predict bleaching and thermal resilience.

Idea by mentor Carly

Dive in to BioMed NOW!

Register to get paired with one of our expert mentors and to get started on exploring your passions today! You have agency in setting up your schedule for this research. Dive in now!

Diseases and Treatments Project Ideas

The understanding of a new and upcoming treatment: immunotherapy.

Immunotherapies have been growing in the past few years as alternative treatments for many types of cancer. These treatments work by boosting the patient's immune system to fight the disease, however it is not always effective. There are many types of immunotherapies with various nuances, but they all work to attack specific cells that are causing the disease. For this project, pick one of a few types of immunotherapy and deeply understand the mechanism of action and what is the current effectiveness against the cancer it treats.

Idea by mentor Hannah

Exploring The Cancer Genome Atlas data

There has been an explosion of publicly available data for cancer. The Cancer Genome Atlas was a research program with the purpose of creating a comprehensive catalog of genomic and molecular information about different types of cancer, with the aim of improving our understanding of the disease and developing new treatments. The dataset has been used to identify new cancer subtypes, develop diagnostic tests, and discover potential targets for new cancer therapies. Explore the implications and impact of The Cancer Genome Atlas data, and why it’s become so important.

Idea by mentor Hersh

Systematic Review and Meta-Analysis of Physiological Benefits of Fasting-induced Autophagy

Autophagy, meaning "self-eating", is a cellular process where damaged or unwanted components are disposed. Autophagy has been linked to various diseased pathologies, including cancer and heart disease. Fasting or specific dietary lifestyles may induce levels of autophagy in the human body. In this project, we will perform and systematic review and meta-analysis of fasting or diet-induced autophagy and its benefits on the body. You will gain skills in 1) searching and reviewing primary literature, 2) computational skills for performing data analysis (R language), and 3) writing your scientific findings.

Idea by mentor Jose

The Amyloid Hypothesis: Sifting through the controversy

For many years, scientists have thought that amyloid beta was the protein responsible for a patient developing Alzheimer's Disease symptoms. This "Amyloid Hypothesis" is now being questioned in light of current clinical data. Recently, drugs have been developed that reduce amyloid beta in patients. Surprisingly, the drugs worked in reducing amyloid beta, but it did not result in the slowing of disease pathology. Does this mean that the amyloid hypothesis is incorrect? Is amyloid beta less important in the progression of disease then what we once thought? This research project aims to explore the issues with the amyloid hypothesis and to assess where we stand in our understanding of amyloid beta's contribution to Alzheimer’s.

Idea by mentor Patrick

How do vaccines work?

During the COVID pandemic, vaccines have been all over the news! But how do they actually work? What’s the science behind them? Through this project, you will explore how vaccines work and the history of science behind vaccine development. While the final product of the projectwill be up to you, the ultimate goal of this project is for you to be a true public health advocate for vaccines and to be able to communicate why vaccines are so important in a way that the general public can understand.

Idea by mentor Helen

Sleep Disruption Profiles in Various Mouse Models of Alzheimer’s

Alzheimer's disease (AD) has been studied for decades but we are no closer to understanding the mechanisms of the disease. Because of the vast number of researchers studying AD, there are numerous models used to study the disease. All these models have different sleep profiles, phenotypes, disease onsets, sex differences etc. Therefore, in this project we will compile a document based on extensive literature review about the various models there are. We will focus on sleep profiles in these animals with an emphasis on male and female differences. This information is valuable because it is important to know which model is best to use to answer your scientific questions and there is a lot of criticism (by other scientists) that can be brought on by the model chosen so you need to be able to justify your choice. This project will also introduce you to the world of AD research and some of the gaps in knowledge in the field.

Idea by mentor Shenee

Rethinking The Treatment Of Neurodegenerative Diseases

Neurodegenerative diseases affect millions of people worldwide. They are conditions that affect the nervous system, particularly the brain and spinal cord, and examples include Alzheimer’s and Parkinson’s. While billions of dollars have been spent trying to find treatments for the disease, very few drugs and therapies have had a meaningful impact on slowing down disease progression. This is often because by the time someone is diagnosed with a disease, it has progressed too far for a treatment to have a substantial effect. Some recent approaches to treatment have turned to looking for early indications of the disease (termed "biomarkers") that can occur before the onset of symptoms. By diagnosing disease and beginning treatment before symptoms arise, these treatments could have a more profound effect in slowing down the progression of disease. Students could review the recent progress being made on identifying biomarkers for neurodegenerative diseases, and either write a paper or even record a podcast on their findings!

Idea by mentor David

Genetics Project Ideas

Height and genetics: nature or nurture.

How much do your genes determine your height? How much do nutrition and environmental factors play a role? What gene variants are implicated in height differences and what is the role of epigenetics? Epigenetics is the study of heritable changes in gene expression or cellular phenotype that occur without changes to the underlying DNA sequence. These changes can be influenced by diet and lifestyle. We will access and analyze an open dataset on twins to estimate the correlation between monozygotic twins (who have the exact same DNA) and height. You will learn to use R to open a dataset, analyze data with statistical methods such the student’s t-test, and display your data as graphs and charts. Finally, you will learn how to make a research presentation on height and genetics, describe the research methods, and present the data in a compelling and thorough way.

Idea by mentor Adeoluwa

The World of Personalized Medicine

Similar to our fingerprints, our genetic code is also unique to each individual person. Our genetic code is what determines our hair color, height, eye color, skin tone...just about everything! For those that develop diseases such as cancer, their genetic code found inside the malignant cells that comprise a tumor may also be unique to them or to certain groups of people with similar mutations (the drivers of disease). So why is it that we treat each person the same way even though the genetic drivers of that disease may be disparate? The world of Personalized Medicine is new and exciting and looks to circumvent this problem. Personalized Medicine (also known as precision medicine) uses the genetic code of a patients disease to guide treatment options that prove to be highly efficacious. Together, lets write a review on a disease of your choice that could benefit from Personalized Medicine based on current literature and research.

Idea by mentor Somer

General Biology Project Ideas

Teach a biology concept two ways: to your fellow students and to the general public.

One of the best ways to learn is to teach. Choose a biological concept that interests you and prepare a lesson and or demo on it. The format should be a video recording of yourself teaching (a la Khan Academy or a Zoom class), but the other details are up to you. Consider incorporating a demonstration (e.g. how can you use items from your kitchen to illustrate properties of mixtures?) or animation (e.g. to illustrate molecular motion). Also consider how you will check that your students understand the concept(s) and/or skill(s) you have taught them. Prepare and record two versions of your lesson: one intended for your peers and one for the general public. How will the versions differ to reflect these different audiences? You will learn what it's like to teach, gain a much greater understanding of your chosen concept(s)/skill(s), and learn how to communicate science to different audiences.

Idea by mentor Alexa

Once you’ve picked a project idea, check out some of our resources to help you progress with your project! Whether you’re stuck on how to cite sources , how to come up with a great thesis statement , or how to showcase your work once it’s finished , we’ve created blog posts to help you out. If you’re interested in doing one of the biology research projects with the help of an amazing mentor at Polygence, apply now ! If you would like some help with coming up with your own idea, book a complimentary consultation call with our admissions team here ! For more biology and science research information, check out our comprehensive list of research opportunities for high school students .

Feeling Inspired?

Interested in doing an exciting research project? Click below to get matched with one of our expert mentors!

Undergraduate Summer Research Programs

The Genetics Department partners with the Stanford Summer Research Program (SSRP) to bring undergraduate students to campus every summer for a research-intensive residential program.

The Genomics SSRP scholars are offered a fully-funded 8-week summer research program, where they work in laboratories affiliated with the Genetics department and receive training in a wide variety of research techniques. In turn, scholars become a part of both the SSRP cohort and our broader Stanford Genetics community. Beyond research experience, this summer program helps prepare its scholars for applying to PhD programs by addressing the career, academic, and personal needs of each student.

The Genomics SSRP program especially encourages applications from students who come from low income families, those who are first generation college students, and others whose backgrounds and experiences would bring diverse perspectives (broadly defined) to the field of Genomics.

Program activities conducted with SSRP

The goal of this program is to provide talented undergraduates in STEM a valuable research opportunity in genomics to help prepare them to apply to PhD programs, regardless of previous research experience. We achieve this through the following steps:

8 weeks of full-time research in conjunction with a faculty mentor and a primary lab mentor (e.g. current PhD student, postdoctoral fellow, and/or staff scientist)

Peer mentorship by current graduate students, including social events.

Workshops on networking, career development, and the PhD or MD/PhD admissions process.  

A final oral and poster presentation of scholars’ research to the Stanford Biosciences community sponsored by SSRP.

How to Apply

Interested students should submit their application through the Stanford Summer Research Program (SSRP) application portal and clearly express their interest in participating in Genomics research. Genomics-specific scholars are selected during the general SSRP review process.

Applications open in November and are due in February each year. See SSRP Criteria and Application Requirements for more information, as well as the SSRP Frequently Asked Questions page.

2019 cohort of Stanford Summer Research Program scholars.

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Recent developments in genetic/genomic medicine

Rachel h. horton.

Clinical Ethics and Law, Faculty of Medicine, University of Southampton, Southampton, United Kingdom

Anneke M. Lucassen

Advances in genetic technology are having a major impact in the clinic, and mean that many perceptions of the role and scope of genetic testing are having to change. Genomic testing brings with it a greater opportunity for diagnosis, or predictions of future diagnoses, but also an increased chance of uncertain or unexpected findings, many of which may have impacts for multiple members of a person’s family. In the past, genetic testing was rarely able to provide rapid results, but the increasing speed and availability of genomic testing is changing this, meaning that genomic information is increasingly influencing decisions around patient care in the acute inpatient setting. The landscape of treatment options for genetic conditions is shifting, which has evolving implications for clinical discussions around previously untreatable disorders. Furthermore, the point of access to testing is changing with increasing provision direct to the consumer outside the formal healthcare setting. This review outlines the ways in which genetic medicine is developing in light of technological advances.

Introduction

The past two decades have seen major shifts in our technical ability to sequence genetic information at scale. Historically, genetic testing tended to consist of either highly detailed molecular testing of nominated single genes, or broad genome-wide dosage screening at low resolution, for example karyotyping [ 1 , 2 ]. Genome sequencing was too slow and too expensive to be used in clinical contexts: for example the Human Genome Project, which was 99% complete in 2004, cost three billion dollars and took 13 years to sequence [ 3 ].

More recently, advances in sequencing technology have made it possible to undertake broad genetic testing on an individual patient basis within a clinically useful timeframe, via exome and genome sequencing. Exome tests sequence the entire protein-coding region of the genome, representing less than 2% of the genome but containing approximately 85% of known disease-causing variants [ 4 ]; genome sequencing encompasses the exome but also sequences all the non-protein-coding DNA. Initially implementation of such tests was via clinical research studies such as the Deciphering Developmental Disorders project [ 5 ], but more recently exome sequencing has been utilised as a clinical diagnostic test [ 6 ]. Genome sequencing is also due to transition to being available as a standard NHS test in June 2019, having previously only been available via initiatives such as the 100,000 Genomes Project [ 7 ].

Sequencing technology has improved in depth as well as breadth, and this has been of importance in better understanding cancer. The ability to sequence cancer genomes has led to rapid identification of driver mutations and has helped to work out the complex relationships between different cancer subclones over space and time, demonstrating the enormous heterogeneity of cancers and the difficulty of successfully treating them [ 8 ]. As sequencing techniques have advanced to the level where tiny amounts of tumour or individual cells can be sequenced, it has been possible to identify previously unknown mutational mechanisms, such as chromothripsis 1 [ 9 ] and kataegis 2 [ 10 ].

However, our ability to generate genomic data has substantially outstripped our ability to interpret its significance for an individual, and while improvements in genomic technology are in many cases driving improvements in healthcare, we are also encountering new problems as genomic testing shifts into the clinical setting. The Global Alliance for Genomics and Health (GA4GH) predicts that by 2025, over 60 million people will have had their genome sequenced in a healthcare context [ 11 ], but pathways for managing the output from genome sequencing are still in their infancy. The detailed but unfocused approach of genomic tests gives opportunities to answer questions that go beyond the problems that led to a patient having a test. However, deciding which of the multitude of possible outputs from genomic tests should be considered a ‘result’ at any given time is very challenging, not least because the links between many genetic variants and diseases are often unproven or poorly understood [ 12 ]. Multidisciplinary input and collaboration are increasingly key to interpreting the significance of genomic results. This review discusses the developments in practice that are evolving as a result of increasing use of genomic technologies.

New disease gene discovery and changing concepts of diagnosis

Exome and genome sequencing are powerful diagnostic tools – for example the Deciphering Developmental Disorders project, which recruited patients with severe undiagnosed disorders (who had generally already had any currently available diagnostic genetic testing), achieved a 40% diagnosis rate via trio exome sequencing for the first 1133 family trios in the study [ 13 ]. The search for a diagnosis has often been described as a journey [ 14 ], with parents of children with rare genetic disorders anticipating that a diagnosis may guide treatment, prognosis, acceptance and social support [ 15 ]. However, identification of new rare disease genes may be changing the impact of receiving a diagnosis, and in many cases very little is known about the long-term effects of newly identified genetic conditions.

Historically when making a genetic diagnosis, it has usually been possible to give families some information regarding prognosis, and to provide some parameters as to what to expect for the future, based on previous experience of what has happened for other children affected by the same condition. Now, while in some situations due to strong phenotypic match it is possible to be confident that a child’s rare disease has been caused by pathogenic variants in a recently described rare disease gene, often this provides little information about a child’s future.

We are increasingly in the position of learning about the effects of possible disease-causing variation(s) in a gene through meeting the patients in whom such genetic changes have been discovered. Often these changes will be in a gene newly thought to be linked to developmental disorders and there will be little, if any, published literature to draw on. We then have to speculate whether the genetic change detected is the cause of our patient’s health problems, and whether any additional difficulties that have happened for our patient that have not yet been noted in other patients with changes in the same gene are an extension of the phenotype of the newly described disease gene, or coincidental. In situations like this, we are often unable to give people information about what a new diagnosis might mean for them or their child in the longer term.

This has led to patient support and awareness groups taking on an increasingly important role [ 16 ], as families gather to share their lived experience of newly diagnosed rare genetic conditions, in turn informing clinical services. For example, the charity Unique works with families and professionals to develop specialist information relating to many rare and newly described genetic conditions, and to gather information about their long-term effects, increasing awareness and understanding of what it is like to live with rare genetic conditions. The rapidity with which such information can be gathered is also exemplified by the work of the PURA Syndrome Foundation: in 2014 the first patients with a rare condition called PURA syndrome were described in the medical literature [ 17 ]. Shortly afterwards the PURA Syndrome Foundation was established which has catalysed links between families, clinicians and researchers, greatly improving the speed and quality of research into the condition [ 18 ].

The agnostic approach of exome and genome sequencing is also challenging our previous concepts of existing genetic diagnoses, when apparently pathogenic variants are found in well-described disease genes but the patient’s clinical picture falls outside the boundaries of what we would conventionally expect for a patient affected by that particular genetic condition. For example, loss-of-function variants in SOX2 are known to cause anophthalmia and microphthalmia in addition to other phenotypes such as developmental delay and structural brain anomalies. Eye abnormalities were thought to be a key feature of SOX2 -related disorders, and so SOX2 would only be requested as a genetic test in patients who had absent or small eyes. Recently, via ‘genotype-first’ approaches, loss-of-function SOX2 variants have been found in people with developmental delay but without anophthalmia or microphthalmia, broadening the phenotypic spectrum associated with this gene [ 19 ]. Case Study 1 shows a further example where exome testing has extended previous perceptions of the clinical scope of a genetic condition.

Case Study 1

Redefining our understanding of genetic conditions (fictional case based on eggens et al. [ 20 ]).

An 8-year-old girl was referred to clinical genetics in order to investigate her progressive weakness. She had been floppy as a baby and from the age of 5 years had developed worsening limb weakness with frequent unusual movements, and difficulty in swallowing. Serial brain scans had shown progressive cerebellar atrophy.

Exome testing found that she was homozygous for a variant predicted to disrupt the function of EXOSC3 , a gene associated with pontocerebellar hypoplasia. This diagnosis had never been thought of as she did not have one of the defining characteristics: pontine hypoplasia. Her clinical picture also seemed atypical for this condition – most children with pontocerebellar hypoplasia do not survive infancy.

However, recent research has shown genotype–phenotype correlations in EXOSC3 -mediated pontocerebellar hypoplasia – patients homozygous for p.D132A variants (like this patient had) tend to have a milder clinical course and preservation of the pons. This genetic explanation fitted well in retrospect, but would not have been considered in advance of the exome test.

Key messages

Many well-recognised genetic conditions may have a wider spectrum of effects than previously thought.
Patients with genetic conditions identified via genomic tests may not conform to the pattern we expect based on experience of patients with the same condition identified via single gene testing. It can be very difficult to be sure whether this reflects an incorrect diagnosis, or a wider disease spectrum than previously recognised.

In many cases, our understanding of why the same genetic condition may be expressed so differently among different people is at an early stage, and this often makes genetic counselling very challenging, particularly in the prenatal setting. For some genetic conditions, it is becoming possible to provide more personalised risk estimates, based on combining knowledge of a person’s genetic diagnosis, with analysis of other factors that may influence their risk. Personalisation of risk in this way has generally been crude and reliant on clinically obvious characteristics: for example, men with pathogenic BRCA variants have a lower risk of developing breast cancer than women with pathogenic BRCA variants. More recently, genetic testing is being developed to complement ‘key’ genetic test results to provide an increasingly refined personal risk. For example, use of a polygenic risk score using breast cancer and ovarian cancer susceptibility SNPs identified via population GWAS showed large differences in absolute cancer risks between women with pathogenic BRCA variants with higher compared with lower polygenic risk score values [ 21 ]. This has yet to translate into routine clinical practice, but has the potential to help women with pathogenic BRCA variants make more informed decisions about how and when to manage their cancer risk.

The downsides of improved sensitivity: increased uncertainty in what tests mean

The prior probability of any one variant identified via genome sequencing being causative for a patient’s rare disease is extremely low. Attempts to catalogue human genetic variation, for example via the 1000 Genomes Project, show that a typical human genome differs from the reference human genome at 4.1–5 million sites [ 22 ]. Most of these variations will be entirely benign, some may subtly impact on risk of various common diseases, and a very small number will have the potential to cause serious disease either in an individual, or in their children (potentially in combination with variants inherited from their partner).

Genome sequencing identifies the majority of these variants, which then need careful filtering to produce a meaningful output. This has required a significant change in mindset from an era when most variants were identified in the context of carefully chosen single gene sequencing, and so had a much higher prior probability of being causative. There is an increasing shift towards a view that variants should be ‘innocent until proven guilty’ [ 23 ], but there is a lack of consensus regarding how to translate this principle into clinical practice.

There is also considerable discrepancy in how different genetics laboratories interpret the same variants. International guidelines for variant interpretation are helpful but insufficient to remove a great deal of noise when attempting to assign significance to particular findings [ 24 ]. This was illustrated in a recent study comparing variant classification among nine genetic laboratories: although they all used the same guidelines, only 34% of variants were given the same classification by all laboratories, and 22% of variants were classified so differently that different medical interventions would be recommended [ 25 ]. At a lower resolution level, even being sure of the relationship between genes and diseases is often difficult. For example, curation of the 21 genes routinely available on Brugada syndrome gene panels using the ClinGen gene curation scoring matrix found that only one of these genes was definitively linked to Brugada syndrome [ 26 ]. Our improving knowledge of variant interpretation leaves us with a difficult legacy, with many patients having been diagnosed incorrectly with genetic conditions. The effects of this can be far-reaching and difficult to undo, as illustrated by Case Study 2 .

Case Study 2

The legacy of incorrect diagnosis (case reported by ackerman et al. [ 27 ]).

A teenage boy died suddenly and genetic testing was then undertaken for his brother, resulting in the finding of a rare variant in KCNQ1 . On the basis of this test, the living brother was diagnosed with long QT syndrome, and the teenage boy’s sudden death was attributed to long QT syndrome. The living brother had an implantable cardioverter defibrillator inserted, and via cascade genetic testing over 24 relatives were diagnosed as having long QT syndrome, despite having normal QT intervals on ECG.

However, subsequent examination of post-mortem samples found that the boy who died had cardiac features inconsistent with long QT syndrome, did not have the KCNQ1 variant found in the wider family, and instead had a clearly disease-causing de novo variant in DES , a gene linked to cardiomyopathy.

It is very important to consider whether the clinical picture fits when evaluating variant significance: genetic variants will usually only predict disease well if found in the context of a medical or family history of the relevant disease.
Incorrect (or inappropriately deterministic) genetic test interpretation can affect the clinical care of a whole family, not just the person being tested.

Although this suggests that we need to be very cautious in making firm genetic diagnoses, it is difficult to know where the threshold should lie for communicating genetic variation of uncertain significance. There is some evidence that people find receiving a variant of uncertain significance surprising and disturbing, and some people misinterpret it as being definitely pathogenic or definitely benign [ 28 ]. However, there is also evidence that many people have a strong desire to receive a broad range of results from genetic testing, including uncertain results, and are uncomfortable with the idea that decisions about non-disclosure might be made without involving them [ 29 ].

The fear is that disclosure of uncertain variants will lead to over-diagnosis and over-management, with variants inappropriately being treated as if pathogenic. Excessive and inappropriate interventions (not to mention anxiety and distress) might then cascade through families, going against one of the fundamental principles of medicine to ‘first do no harm’. However, we also fear missing something or being accused of ‘hiding information’. The result is that we tend to end up in purgatory, documenting uncertain variants on lab reports (though sometimes not) and having lengthy conservations with patients about them (though sometimes not), then tacking on a caveat that ‘maybe this means nothing’. This nominally shifts the responsibility to the next person in the chain but feels unsatisfactory for all concerned.

Uncertainty when to stop looking and what to communicate

Another issue arising from improved sensitivity is the ability to find genetic variants that are unrelated to the clinical problem that a patient presents with, but that may be relevant for their health in other ways. This may be viewed as positive or negative, but working out how to handle this information raises difficult questions. In 2013, the American College of Medical Genetics and Genomics (ACMG) suggested that laboratories should automatically seek and report pathogenic variants in 56 genes associated with ‘medically actionable’ conditions when performing clinical sequencing [ 30 ]. The main rationale was the potential to benefit patients and families by diagnosing disorders where preventative measures and/or treatments were available, with the aim of improving health. However, these recommendations proved controversial. The main debate at the time centred around whether patients should have a right to choose not to know such information [ 31 ]. Subsequent questions about the role of clinicians in offering additional findings, what constitutes a ‘medically actionable’ finding, and what is the predictive value of such findings in the absence of a phenotype or family history of the relevant disorder, are yet to be fully addressed.

Analysis of data from the 1000 Genomes cohort demonstrated that approximately 1% of ‘healthy’ people will have a ‘medically actionable’ finding in one of the 56 genes [ 32 ]. However, what this might mean on an individual basis is often unclear. Most of our knowledge regarding the effects of variation in any given gene has been gathered by observing people who have been identified as having variants in the gene because they were tested as they had a personal history or family history of disease, biasing the sample from which our conclusions are drawn. It is less clear what it might mean to find, for example, an apparently pathogenic variant in a gene linked to cardiomyopathy in a person with no personal or family history of heart problems. This has important implications for ‘cascade screening’, where relatives of a patient affected by a condition with a known genetic cause are offered testing to see whether they have the disease-causing genetic variant that was found in their clinically affected family member (meaning that they may also be at risk of developing the disease). To what extent should testing and subsequent screening be offered in a family based on an incidental finding of a genetic variant thought to be predictive of a particular condition, if there is no clinical evidence that anyone in the family, including the person in whom the genetic variant in question was first identified, is actually affected by it?

Broad genomic testing also has the potential to detect carrier status for recessive and X-linked conditions. From population studies, we know that being a carrier for a genetic condition is very common. For example, a gene panel testing carrier status for 108 recessive disorders in 23453 people found that 24% were carriers for at least one of the 108 disorders, and 5.2% were carriers for multiple disorders [ 33 ]. On a disorder-by-disorder status, being a carrier for a genetic condition is very rare (with notable exceptions such as haemochromatosis and cystic fibrosis), but when considered collectively, it is ‘normal’ to be a carrier for a genetic condition. For most people, being a carrier will have no impact on their life at all. However, if their partner happens to be a carrier for the same condition then the implications could be very profound, as each of their children would have a one in four chance of being affected by the genetic condition. This is particularly relevant for couples who are known to be biologically related [ 34 ], and couples with common ancestry, as they will have a higher chance of both being carriers for the same recessive condition. Carrier screening for various autosomal recessive diseases has been available in some instances for many years, for example screening for carrier status for Tay–Sachs disease for people of Ashkenazi Jewish ancestry has been offered since the 1970s [ 35 , 36 ]. More recently, advances in technology have led to development of expanded carrier screening tests, which check carrier status for multiple diseases simultaneously and are often less targeted towards particular genetic populations [ 37 ].

The increased scope of carrier screening, combined with the recognition that it is very common to be a carrier for one or more recessive genetic conditions, has led to an increasing move to consider carrier results for recessive genetic conditions on a couple basis, where carrier status is only communicated if it would be relevant in the context of a particular relationship (i.e. if both people in a couple are carriers for the same condition) [ 38 ]. This avoids pathologising the status of ‘being a carrier’, recognising that most of us are carriers for some genetic conditions, and conserves resources for genetics services by not flooding the system with large volumes of individual carrier results, most of which will be meaningless in the context of that individual’s life. Objections to this approach are that by not communicating individual carrier results, a person would not know this information for future relationships, and their family could not access cascade screening to see whether they are also carriers. However, these objections could be obviated by widespread adoption of couple carrier testing – a person (or their close relatives) could find out their carrier status if relevant when they next had a couple carrier test in the context of their new relationship. In some ways, this could be seen as comparable with management of infectious disease – lots of healthy people carry MRSA, but very few die of MRSA infection. People are therefore screened at times when they might be especially vulnerable to becoming unwell from MRSA, or when they might pass it on to others at risk, for example when admitted to hospital, rather than being tested at random points when they are generally well.

The expanding remit and availability of genetic technology

‘acute genetics’.

For many years, clinical genetics input has at times influenced acute care, for example in diagnosing trisomies in the neonatal period, or informing the care of babies born with ambiguous genitalia. However in many circumstances, the key contribution of clinical genetics was in providing a post hoc explanation for serious medical problems, rather than in influencing treatment decisions on a real-time basis. This is changing as the availability of exome and genome sequencing increases, as shown by Case Study 3 . A recent study in a neonatal intensive care unit in Texas studied outcomes for 278 infants who were referred for clinical exome sequencing, and found that 36.7% received a genetic diagnosis, and medical management was affected for 52% of infants with diagnoses [ 39 ]. There is increasing evidence that this approach is cost-effective: for example, a prospective study of exome sequencing for infants with suspected monogenic disorders found that standard care achieved an average cost per diagnosis of AU$ 27050, compared with AU$ 5047 for early singleton exome sequencing [ 40 ]. Similarly, ‘real-time’ genetic and genomic testing is making an impact in cancer treatment, where in many cases testing is available to help guide treatment choices by identifying actionable genetic variants in tumours that may respond to specific therapies [ 41 , 42 ].

Case Study 3

Insights from exome testing transforming a clinical course (case from wessex genomic medicine centre [ 43 ]).

A young woman was referred for exome testing having spent months in a coma. From childhood she had experienced sensory problems, and as a young adult she had gone on to develop seizures which deteriorated into status epilepticus, necessitating ventilation on intensive care.

After 3 years during which all other avenues had been explored, analysis of her exome was proposed. An unexpected diagnosis of pyridoxine-dependent epilepsy was found; this had not previously been considered as classically it causes seizures in the first few months of life. She began treatment with pyridoxine (vitamin B 6 ). From that point on she had no further seizures and her clinical situation transformed. Over a 6-month period she was weaned off all of her anti-epileptic drugs, and was able to return to a normal life.

Key message

Exome or genome tests have the potential to make an enormous difference to clinical care and to people’s lives.

Pharmacogenomics

As well as guiding treatment choice, genetic testing will increasingly influence what doses are prescribed, and whether medications are considered unsuitable in view of a high risk of an adverse reaction. Around the time that the Human Genome Project was completed, there was considerable excitement about the possibility of genetic testing guiding use of medication in the clinic [ 44 , 45 ]. The potential of genotype-driven drug dosing has for the most part yet to be realised, in part because the interaction of the genetic factors involved is sometimes complex, and in part because environmental factors may also have a significant impact on how a person responds to a drug. For example, genotype-driven prescription of warfarin, which has notoriously wide inter-individual variation in dosage requirements, largely remains in the realm of research [ 46 ].

However, for some drugs, pharmacogenomics has already had a significant impact in reducing morbidity and mortality. For example, when the antiretroviral drug abacavir was first introduced, approximately 5% of the people treated developed an idiosyncratic hypersensitivity reaction that could be life-threatening on repeated exposure to the drug [ 47 , 48 ]. Research established that immunologically confirmed hypersensitivity reactions to abacavir only occurred in people with the HLA-B*5701 allele, and a clinical trial went on to show that pre-screening patients to check that they did not have HLA-B*5701 prior to starting the drug led to no confirmed hypersensitivity reactions in the pre-screened arm, while 2.4% of the unscreened patients had reactions [ 49 ]. Patients are now screened for HLA-B*5701 as standard before starting abacavir treatment [ 50 ]. Similar screening is likely to become more widespread as we learn more about genetic risk factors for adverse drug reactions. For example, there are increasing suggestions that the mitochondrial variant m.1555A>G should be checked in patients with cystic fibrosis in order to guide antibiotic treatment choices, in view of the evidence that people with this variant may develop hearing loss when exposed to aminoglycosides [ 51 ].

Evolving options in prenatal genetics

Genetic testing is also being used more extensively in the prenatal setting, in part because of developments in non-invasive prenatal testing and diagnosis, which allow genetic screening or testing of a developing pregnancy by doing a blood test for the mother [ 52 ]. This removes the risk of miscarriage associated with conventional prenatal tests (chorionic villus sampling or amniocentesis). While this is in some ways a stride forward, it raises various ethical issues, as the technical test safety may lead to such testing becoming viewed as routine. This raises the concern that couples will give less careful consideration as to whether they really want to know the results before having such tests, and that women may feel that there is an expectation that they should have testing. The worry is that this could potentially lead to people feeling under pressure to terminate pregnancies in response to genetic test results (including in situations where the clinical implications of the results may be far from clear) [ 53 ].

Widening access to genetic testing within healthcare

The expanding options for genetic testing and the escalating expectation for quick results to drive clinical management mean that testing provision is increasingly being pushed out of highly specialised genetics centres into mainstream medicine. For example, many women with ovarian cancer will now be offered BRCA testing via their oncology team, and only referred to genetics if needed based on the test results [ 54 ]. Genetics appointments now frequently focus on interpretation of tests already done, working out if the test outcome seems to match the clinical problem, and arranging testing and surveillance for family members.

The rise of direct-to-consumer genetic testing

As clinical services have increasingly grown to expect and demand genetic answers for patients with complex health problems, on a broader societal level the hunger for genetic information also seems to be increasing. However this is occurring in the context of a public discourse about personalised/precision medicine and genetics that tend to enthusiastically promote it in a very optimistic light, rarely dwelling on potential concerns and limitations, and therefore potentially sculpting inappropriate expectations from technology that is still being developed [ 55 ].

Direct-to-consumer tests currently sit outside much of the regulation that governs clinical genetic testing, but claim to provide insight into issues as diverse as ancestry, nutrition, athletic ability, and child talent [ 56 ]. Many testing providers also claim to help provide insight on health, though the information provided by many direct-to-consumer companies is far from comprehensive. For example, a recent analysis of 15 direct-to-consumer genetic testing companies advertising to U.K. consumers found that none of them complied with all the U.K. Human Genetics Commission principles for good practice regarding consumer information [ 57 ]. There are also examples that might make us reflect sceptically on the value of these tests – for example a case where a family sent a sample from their dog to a direct-to-consumer testing company designed to provide insights on people’s genetic ‘superpowers’ and received a report which did not mention that the sample was not human but conjectured that the client would be talented at basketball [ 58 ].

‘DIY genetics’ has also risen in popularity, with people asking for raw data from direct-to-consumer companies then processing this themselves via third-party interpretation services, as discussed in Case Study 4 . Approximately 40% of genetic changes in direct-to-consumer test raw data sent for clinical confirmation are false positives [ 59 ], but this is often not appreciated by customers or the doctors they may subsequently visit, leading to anxiety and often inappropriate medical interventions [ 60 ]. However, clearly many people see a value in receiving genetic information and are prepared to pay for this. This marks a shift from genetic testing in order to explain health problems or for people at high risk of developing specific genetic conditions, to testing of healthy people with the rationale of facilitating life planning. This idea has been taken to the extreme with initiatives such as the BabySeq project, exploring the medical, behavioural and economic impacts of integrating genome sequencing into the care of healthy newborns [ 61 ].

Case Study 4

Grime on the crystal ball (fictional case based on moscarello et al. [ 60 ]).

A healthy medical student was given a direct-to-consumer genetic test for Christmas, and explored the raw data from this test using an online interpretation programme, finding a variant in MYBPC3 that was predicted to cause hypertrophic cardiomyopathy. He was understandably worried by this result, taking time off university as he came to terms with it, and giving up running, which he used to really enjoy.

He was seen in a hypertrophic cardiomyopathy clinic and had an expert cardiology assessment including ECG, echocardiogram and review of his family history. He was found to have no clinical evidence of hypertrophic cardiomyopathy, and further genetic testing showed that he did not actually have the disease-causing MYBPC3 variant that the online interpretation programme had identified. However, he continued to feel anxious about his risk of heart problems and decided to give up running permanently.

Information provided from direct-to-consumer testing may be unreliable, especially where online interpretation programmes are used to further explore the raw data from the test: the level of quality control may be very different from that of accredited genetic laboratories, increasing the likelihood of false positives, false negatives and sample mix-up.
Many direct-to-consumer genetic tests involve no meaningful pre-test counselling – people are often totally unprepared for the information that might come out of such testing (and are unaware that it might be wrong).

Genetic information as family information

The familial nature of genetic information has always generated discussion as to how to respect the confidentiality of individual patients while ensuring that their close relatives have access to information that may be relevant for their own health and life choices. Clinical guidance in this area has increasingly taken the stance that genetic information should be confidential to families, not individuals (though the personal consequences of having a genetic change for a given individual should be confidential to them alone) [ 62 ].

The consequences of this shift are still being navigated in the clinical setting – research indicates that patients often see genetic information as belonging to their family rather than exclusively to them [ 63 ], but healthcare professionals are often reticent about taking a familial approach to the confidentiality of genetic information in practice, worrying that this stance could disrupt family dynamics or erode patient trust in the health service [ 64 ]. A recent BMJ poll which asked, ‘Are there situations when sharing a patient’s genetic information with relatives without consent is acceptable?’ demonstrated the current split in opinion, with 51% of respondents answering ‘yes’ and 49% ‘no’ [ 65 ]. The personal versus familial nature of genetic information is currently being tested in the courts via the ABC case, which centres around non-disclosure of genetic risk to the daughter of a patient with Huntington’s disease [ 66 ].

Treatment for genetic disorders

One of the most exciting recent developments in genetics and genomics is the prospect of treatment for an increasing number of genetic conditions. However this topic has to be treated with caution as the practical reality for many patients and families is that though promising research is ongoing, meaningful treatment is not possible in many cases. Even in situations where evidence-based treatments have been developed, the expense of many of these therapies risks making them inaccessible.

Many different approaches have been taken to try to treat genetic conditions. Gene therapy, which involves delivering functional genetic code, is one approach but its success has been widely variable, often due to difficulty in developing vectors that can deliver genetic material into affected tissues at sufficiently high levels without being destroyed by the immune system. In certain situations this approach can be highly effective, for example promising results have been achieved in various eye conditions, likely because eyes are small and easily accessible, and have a privileged relationship with the immune system [ 67 ]. In cases aiming to deliver gene therapy to a wider area, such as the lungs or the muscles, treatment attempts have generally proved more challenging [ 68 , 69 ].

Other approaches include use of small molecules to modify various steps in the pathway from gene to functional product. For example, Eteplirsen aims to treat Duchenne muscular dystrophy in certain patients by influencing splicing machinery to skip exon 51 from mature DMD mRNA, restoring a more functional reading frame so that a shortened version of dystrophin can be successfully translated [ 70 ]. Ivacaftor potentiates the action of CFTR channels in some patients with cystic fibrosis (G551D pathogenic variant) [ 71 ]. Enzyme replacement therapy is being trialled to treat children with mucopolysaccharidoses, for example idursulphase infusions in mucopolysaccharidosis type 2 [ 72 ].

While lots of these therapies are very exciting and show demonstrable changes at the molecular level in clinical trials, these cellular changes do not always clearly translate into improvements in clinically relevant outcomes. The therapies are also often hugely expensive, which raises very difficult ethical questions regarding whether limited resources should be spent on such treatments where there is often only limited proof of clinical efficacy.

However the increasing possibility of future treatments for genetic conditions is influencing clinical decisions around the care of very ill children. For example, recently nusinersen has shown promise as a treatment for some children with spinal muscular atrophy, but this may begin to raise new questions about whether interventions such as intubation and tracheostomy should be offered to infants with severe spinal muscular atrophy, where previously these would have been considered medically inappropriate [ 73 ]. This has consequences for the clinical conversations happening when these diagnoses are made. In the past, breaking news of such a diagnosis might flow naturally into discussions around palliation. The possibility of treatment now creates new options to consider, but also new challenges in considering with parents how best to care for their child [ 74 ]. The clinical impact and accessibility of emerging treatments is often very uncertain, but parents may prefer to explore even extremely long-shot treatments over accepting a palliative care pathway route, and may expect or seek crowd funding for experimental treatments for which there is as yet very little, if any, evidence of benefit.

Improving genetic technology has also had a significant impact on fertility services, ranging from pre-implantation genetic diagnosis to mitochondrial donation, offering new options for families affected by genetic conditions [ 75 , 76 ]. Increasing technological capability is set to extend the theoretically possible range of options – for example last year a group in China used the CRISPR/Cas9 system to correct pathogenic variants in the HBB and G6PD genes in human zygotes [ 77 ], though the efficiency and accuracy of the correction procedure was variable. This emerging possibility raises significant ethical issues which need debate. A recent report of the Nuffield Council on Bioethics on genome editing in the context of human reproduction suggested that there may be certain contexts in which this may be ethically acceptable, provided that such interventions were intended to secure the welfare of a person who may be born as a result, and that any such interventions would uphold principles of social justice and solidarity [ 78 ].

Conclusions

Insights from genomic technology have great potential to improve health, but we are currently going through a teething process in learning how to respond to the nebulous information that genomic tests can provide in the clinical setting. In part, this learning process is being driven by patients and families, with patient support groups coming to the fore in an era where we can now make extremely rare diagnoses that link different families across the world, but often have very little information on what this might mean for the future. Our current response to the outcomes from genomic tests is often reactive and ad hoc, partly because we are still learning how to interpret genomic variation and are often unable to gain a consensus on whether genetic variants are clinically significant or not. This situation is exacerbated by the different routes in which genomic information is now accessible – rapid tests to establish diagnosis or plan treatment for patients are now a reality in the real-life clinical setting, but healthy people also have increasing access to commercial tests that claim to provide genetic information to improve health and life planning. This raises particular challenges in the context of a public discourse about genomics that tends to present it as far more predictive and certain than it actually is. Some of the most exciting recent developments in genomic medicine relate to potential future treatments and reproductive options for people and families affected by rare genetic conditions. However hurdles relating to treatment efficacy and optimal timing of treatment, mean that we need to keep these advances in perspective and consider how to research potential treatments responsibly, avoiding creating hype that undermines the ability of families to make a balanced decision whether or not to participate in this research. It is also important to consider financial sustainability, avoiding situations where useful new treatments are developed that remain inaccessible to the patients who need them on account of their cost. To summarise, the introduction of genomic testing is having a big impact on patient care, but raises various issues that need further study and debate in order to help us maximise the potential benefits of genomic medicine while minimising the possible harms.

Acknowledgments

We thank the patient in Case Study 3 for her help with the Case Study box and for sharing her story.

Abbreviations

1 Complex chromosome rearrangements, thought to occur due to single catastrophic events where chromosomes ‘shatter’ and are repaired by error-prone mechanisms.

2 Clusters of localised mutations.

This work was supported by funding from a Wellcome Trust collaborative award [grant number 208053/Z/17/Z (to A.L.)].

Competing interests

The authors declare that there are no competing interests associated with the manuscript.

Biology Research Projects for High School Students

Indigo Research Team

Biology Project Ideas for High School Students

Are you looking for biology-related topics for your high school research project? If yes, then you have come to the right place.

We do understand that finding the right topic for research that connects with you can be challenging. This is particularly true for the field of biology since it is very diverse. A good biology project needs to have enough scientific research backing it so that it helps support or disprove your hypothesis.

This article is all about easy and interesting research projects designed just for keen high school students. We'll explore topics in the domain of the human body, ecosystems, diseases and their treatments, and more.

Biology Project Ideas For High Schoolers

Here's a carefully curated compilation of cool biology topics to inspire and kick-start your creativity. We have broken the list into categories so that it's easier for you to navigate projects that fall into your interest.

Human Body Project Ideas

The human body is said to be the most complicated biological machine, which opens room for good research topics . Let's check out some exciting project ideas about the human body.

1. Exploring the Rate of Cognitive Decline at Different Elevations

At higher altitudes, there's a reduction in oxygen partial pressure, impacting blood oxygenation and potentially influencing brain function. If you've ever experienced altitude sickness, you've felt the effects of this phenomenon. The decrease in atmospheric pressure at elevated altitudes results in lower partial pressures of gases, including vital oxygen necessary for our bodily functions.

This project can investigate the impact of sudden increased elevation, such as climbing Denali, on brain health and cognition. Additionally, you can also explore whether continuous exposure to high elevations might contribute to an increased risk of dementia. This biology research project can also analyze published studies examining the correlation between altitude and cognitive brain functions. ‍

2. Making a Visual Guide for Blood Vessel Formation

Create an illustration using online images to showcase the process of blood vessel development. In this project, you can search existing research to understand the current knowledge about how blood vessels form and grow. Then, you can use this gathered information to design a graphic explaining how the network of blood vessels, known as vasculature, takes shape.

This is one of the most interesting human biology project ideas that aims to convey scientific concepts visually, making the information more accessible to a broader audience. ‍

3. Exploring Bacterial Communities in Different Homes

If you’re looking for immune system project ideas, this might be it for you. Bacterial microbiomes are groups of bacteria living on or around living things. These communities of tiny cells are essential for our health, helping with digestion and keeping our immune system in check. The microorganisms in our body outnumber our own cells by approximately 10:1. This project mainly focuses on figuring out how the bacteria on our skin differ between people from different households. To execute this biology project, you can create various bacterial media at home and select other microorganisms.

Note: While conducting research, avoid abrasions, needle sticks, or cuts to avoid getting bacterial infections. Wearing safety goggles, a face mask, or a face shield can help keep you safe. It is also important after the experiments to wash your hands with soap and water and disinfect surfaces that may have been in contact with the bacteria. At the end of your experiment, fully sterilize everything before disposal.

4. Understanding the Control of Biological Clocks

Next up in the human biology project ideas is understanding how biological clocks work. Sleep is managed by two main processes: the circadian clock, which aligns sleep patterns with the day-night cycle, and sleep homeostasis, which tracks sleep debt as a way to recover from sleep loss.

You've probably heard about the circadian rhythm, our body's internal clock. Circadian sleep regulation is crucial for animals to predict when they should be awake or sleepy each day. These processes can be controlled at different levels, such as genes, proteins, and neurons in the clock.

This biology research topic can focus on exploring the regulation of circadian clocks at various genetic levels. This project will help you develop important scientific skills in two areas: the first one is learning how to read and summarize information from scientific articles efficiently, and the second is finding effective ways to present the gathered information. ‍

5. Exploring the Science of Getting Older

Exploring the science of getting older is one of the most groundbreaking human biology research topics. Growing older is the main factor that increases the risk of various diseases like cancer, neurodegenerative conditions, and sensory impairments. Recently, researchers began to unravel the mysteries of ageing and discover ways to slow down or potentially reverse its effects.

What are the signs of ageing? How do scientists study the process of getting older? How do human lifespan and ageing compare to other animals? Can we actually put a halt to or undo the impacts of ageing? What progress has been made in this area? You can delve into these topics for biology projects or brainstorm other inquiries about the biology of ageing.

Animals, Plants, and Nature Project Ideas

Next up, we’ll discuss the biology research projects related to animals, plants, and nature. These environments are very close to human and they are definitely very interesting to explore.

1. Examining the Impact of Genetically Modified Mosquitoes on Disease Rates

In some areas, like the island of Príncipe, many genetically modified mosquitoes are set free every week. These mosquitoes are modified so they can't easily spread diseases like dengue fever, Zika, and malaria. They're released into nature to mix with regular mosquitoes that carry diseases. But only some agree on whether this is a good idea, as there could be unexpected environmental effects.

You can conduct research on what could be the good and not-so-good things about this. This biology project is about researching articles and videos to understand how and why scientists use these mosquitoes to reduce diseases and to understand exactly how this works. You may even want to explore exactly how scientists create these genetically modified mosquitoes.

‍ 2. Effectiveness of Ocean-Protected Zones

Ocean-protected zones, known as Marine Protected Areas (MPAs), are specific parts of the sea or coastal waters set aside to conserve marine resources sustainably. Governments, NGOs, or other groups create these areas, and they can vary from entirely off-limits "no-take" zones to zones with controlled fishing or other activities. While MPAs can help manage resources wisely and safeguard biodiversity, there are various reasons why they might need to be revised.

For your marine biology project ideas, investigate the factors that could make MPAs less effective. Then, devise an alternative plan for creating, modeling, and implementing an efficient Marine Protected Area.

For an insightful example of student-led research in this area, explore this project on Applications of Australian Native Aquatic Plants in Purifying Wastewater Sources at Indigo Research . ‍

3. Learning from Nature: Can Animals Provide Solutions?

Exploring the wisdom of the natural world, you can delve into the intriguing question: Can animals offer us innovative solutions to complex problems? How can studying how lizards and newts regrow their limbs help us make wound treatments better or even help someone who is paralyzed from injury to their spinal cord? Why is tilapia skin useful for burns? Explore these new topics in biology on how animals contribute to shaping modern medicine and its future possibilities.

Also, consider if there are any ethical worries tied to these discoveries and developments. If there are, what are they, and should we be concerned? ‍

4. Understanding the Impact of Climate Change on the Habitats of Rare Species

Climate change, marked by factors like global warming and prolonged drought, threatens some of the rarest plants and animals on our planet. It is crucial to figure out how the future living spaces for these rare species might change so we can focus our efforts on preserving specific areas.

In this project, you can choose a rare species you're interested in and gather online data about where it currently exists. This is a great idea for a biology research project if you’re interested in the environment, ecology or rare plant and animal species, in which you can find out how to use species distribution modeling to map where it lives now and where it might thrive.

5. Complex Relationships in Coral Reefs

Coral reefs worldwide are struggling, and one big reason is "coral bleaching," making the reefs look white, as you might have seen in the news. Coral bleaching happens when the teamwork between the coral animals and the tiny, helpful algae inside them breaks down. These coral and algae buddies can handle different temperatures, but we don't really know why.

This biological project can be about reading what scientists have researched about this teamwork and determining what factors can tell us when corals might turn white and how well they can handle temperature changes.

Genetic Project Ideas

If you want to base your project on genetics, we have a few ideas you can look at.

Genetics projects ideas for high school students

1. Understanding the Relationship between Genetics and Height

Epigenetics studies how heritable cellular phenotype or gene expression changes occur without altering the DNA sequence. Such changes are affected by lifestyle and diet. In these biochemical projects, you can analyze the open dataset on identical (or monozygotic) twins to find what biological features are shared between monozygotic twins and which are not. The latter might be affected by non-genetic factors that control these features

You will learn how to use the R tool to look at and analyze data, and use statistical tools to identify significant differences between groups, and, in the end, showcase your research with graphics to communicate it effectively to the audience.

2. Exploring personalized medication

Just like fingerprints, each of us has a unique genetic code that determines things in our body, like our hair color, height, and eye color. Even diseases like cancer have their own unique codes inside the malignant cells that define important features of the a tumor.

For decades, everyone with a specific cancer has been treated the same way with surgery, chemo- or radiotherapy, even if their malignant cells are different. That's where one of the most interesting biology topics for research, personalized medication, comes in.

It's a new and exciting way to treat diseases. Personalized medicine aims to use the disease's genetic code to customize the treatment to that particular individual. This domain of biology has a lot of published research and a lot of room for new research as well.

One thing you can do for your biology project subject is to pick one disease whose treatment can really benefit from personalized medication and write a research paper on it based on the work of reputable researchers.

3. The genetics of neurodevelopmental disorders

Many neurodevelopmental or psychiatric disorders like autism spectrum disorder or schizophrenia have a strong genetic basis. What genes are involved? What proteins do they produce and what are their functions? How do these genetic changes affect brain development and function? Can this knowledge help scientists develop new drugs to treat conditions like schizophrenia that is still being treated with the same drugs as 50 years ago?

This project will allow you to read exciting research that has been published over the last few years, and learn about genetics and neuroscience, two of the most exciting areas of biology and medicine. You will develop skills in scientific research and ways to present complex ideas to an audience.

Projects based on exciting biological topics allow students to explore the science of living things and get hands-on experience with everything they learned in high school. From investigating altitude's impact on cognition in human beings to exploring genetically engineered mosquitoes, these projects help in understanding biology.

Students develop critical thinking and research skills in each biology project, apply classroom knowledge, and communicate findings effectively. These projects provide students the freedom to explore individual interests and pave the way for future scientific endeavors.

If you're interested in conducting biology research, consider finding a mentor who can guide you through your innovative biology project ideas. At Indigo Research, you can start your research at any time of the year, building on the knowledge and skills you've acquired from your internships or academic coursework.

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There are many hurdles to clear before a research discovery becomes a life-changing treatment for patients. That’s especially true when the treatments being developed represent an entirely new class of medicines. But overcoming those obstacles can revolutionize our ability to treat diseases.

Few companies exemplify that process better than Alnylam Pharmaceuticals. Alnylam was founded by a group of MIT-affiliated researchers who believed in the promise of a technology — RNA interference, or RNAi.

The researchers had done foundational work to understand how RNAi, which is a naturally occurring process, works to silence genes through the degradation of messenger RNA. But it was their decision to found Alnylam in 2002 that attracted the funding and expertise necessary to turn their discoveries into a new class of medicines. Since that decision, Alnylam has made remarkable progress taking RNAi from an interesting scientific discovery to an impactful new treatment pathway.

Today Alnylam has five medicines approved by the U.S. Food and Drug Administration (one Alnylam-discovered RNAi therapeutic is licensed to Novartis) and a rapidly expanding clinical pipeline. The company’s approved medicines are for debilitating, sometimes fatal conditions that many patients have grappled with for decades with few other options.

The company estimates its treatments helped more than 5,000 patients in 2023 alone. Behind that number are patient stories that illustrate how Alnylam has changed lives. A mother of three says Alnylam’s treatments helped her take back control of her life after being bed-ridden with attacks associated with the rare genetic disease acute intermittent porphyria (AIP). Another patient reported that one of the company’s treatments helped her attend her daughter’s wedding. A third patient, who had left college due to frequent AIP attacks, was able to return to school.

These days Alnylam is not the only company developing RNAi-based medicines. But it is still a pioneer in the field, and the company’s founders — MIT Institute Professor Phil Sharp, Professor David Bartel, Professor Emeritus Paul Schimmel, and former MIT postdocs Thomas Tuschl and Phillip Zamore — see Alnylam as a champion for the field more broadly.

“Alnylam has published more than 250 scientific papers over 20 years,” says Sharp, who currently serves as chair of Alnylam’s scientific advisory board. “Not only did we do the science, not only did we translate it to benefit patients, but we also described every step. We established this as a modality to treat patients, and I’m very proud of that record.”

Pioneering RNAi development

MIT’s involvement in RNAi dates back to its discovery. Before Andrew Fire PhD ’83 shared a Nobel Prize for the discovery of RNAi in 1998, he worked on understanding how DNA was transcribed into RNA, as a graduate student in Sharp’s lab.

After leaving MIT, Fire and collaborators showed that double-stranded RNA could be used to silence specific genes in worms. But the biochemical mechanisms that allowed double-stranded RNA to work were unknown until MIT professors Sharp, Bartel, and Ruth Lehmann, along with Zamore and Tuschl, published foundational papers explaining the process. The researchers developed a system for studying RNAi and showed how RNAi can be controlled using different genetic sequences. Soon after Tuschl left MIT, he showed that a similar process could also be used to silence specific genes in human cells, opening up a new frontier in studying genes and ultimately treating diseases.

“Tom showed you could synthesize these small RNAs, transfect them into cells, and get a very specific knockdown of the gene that corresponded to that the small RNAs,” Bartel explains. “That discovery transformed biological research. The ability to specifically knockdown a mammalian gene was huge. You could suddenly study the function of any gene you were interested in by knocking it down and seeing what happens. … The research community immediately started using that approach to study the function of their favorite genes in mammalian cells.”

Beyond illuminating gene function, another application came to mind.

“Because almost all diseases are related to genes, could we take these small RNAs and silence genes to treat patients?” Sharp remembers wondering.

To answer the question, the researchers founded Alnylam in 2002. (They recruited Schimmel, a biotech veteran, around the same time.) But there was a lot of work to be done before the technology could be tried in patients. The main challenge was getting RNAi into the cytoplasm of the patients’ cells.

“Through work in Dave Bartel and Phil Sharp's lab, among others, it became evident that to make RNAi into therapies, there were three problems to solve: delivery, delivery, and delivery,” says Alnylam Chief Scientific Officer Kevin Fitzgerald, who has been with the company since 2005.

Early on, Alnylam collaborated with MIT drug delivery expert and Institute Professor Bob Langer. Eventually, Alnylam developed the first lipid nanoparticles (LNPs) that could be used to encase RNA and deliver it into patient cells. LNPs were later used in the mRNA vaccines for Covid-19.

“Alnylam has invested over 20 years and more than $4 billion in RNAi to develop these new therapeutics,” Sharp says. “That is the means by which innovations can be translated to the benefit of society.”

From scientific breakthrough to patient bedside

Alnylam received its first FDA approval in 2018 for treatment of the polyneuropathy of hereditary transthyretin-mediated amyloidosis, a rare and fatal disease. It doubled as the first RNAi therapeutic to reach the market and the first drug approved to treat that condition in the United States.

“What I keep in mind is, at the end of the day for certain patients, two months is everything,” Fitzgerald says. “The diseases that we’re trying to treat progress month by month, day by day, and patients can get to a point where nothing is helping them. If you can move their disease by a stage, that’s huge.”

Since that first treatment, Alnylam has updated its RNAi delivery system — including by conjugating small interfering RNAs to molecules that help them gain entry to cells — and earned approvals to treat other rare genetic diseases along with high cholesterol (the treatment licensed to Novartis). All of those treatments primarily work by silencing genes that encode for the production of proteins in the liver, which has proven to be the easiest place to deliver RNAi molecules. But Alnylam’s team is confident they can deliver RNAi to other areas of the body, which would unlock a new world of treatment possibilities. The company has reported promising early results in the central nervous system and says a phase one study last year was the first RNAi therapeutic to demonstrate gene silencing in the human brain.

“There’s a lot of work being done at Alnylam and other companies to deliver these RNAis to other tissues: muscles, immune cells, lung cells, etc.,” Sharp says. “But to me the most interesting application is delivery to the brain. We think we have a therapeutic modality that can very specifically control the activity of certain genes in the nervous system. I think that’s extraordinarily important, for diseases from Alzheimer’s to schizophrenia and depression.”

The central nervous system work is particularly significant for Fitzgerald, who watched his father struggle with Parkinson’s.

“Our goal is to be in every organ in the human body, and then combinations of organs, and then combinations of targets within individual organs, and then combinations of targets within multi-organs,” Fitzgerald says. “We’re really at the very beginning of what this technology is going do for human health.”

It’s an exciting time for the RNAi scientific community, including many who continue to study it at MIT. Still, Alnylam will need to continue executing in its drug development efforts to deliver on that promise and help an expanding pool of patients.

“I think this is a real frontier,” Sharp says. “There’s major therapeutic need, and I think this technology could have a huge impact. But we have to prove it. That’s why Alnylam exists: to pursue new science that unlocks new possibilities and discover if they can be made to work. That, of course, also why MIT is here: to improve lives.”

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Research Briefing
Published: 20 May 2024

Genetic ancestry contributes to gene expression in the brain

Nature Neuroscience ( 2024 ) Cite this article

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Computational biology and bioinformatics
Gene expression

By using genetic admixture in the multi-omic analysis of postmortem brains from Black Americans, we show that genetic ancestry influences gene expression in the brain. Notably, we find enrichment of ancestry-associated genes for immune response and vascular function, but not neuronal function. Our findings have potential implications for stroke, Parkinson’s disease and Alzheimer’s disease.

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Bailey, Z. D. et al. Structural racism and health inequities in the USA: evidence and interventions. Lancet 389 , 1453–1463 (2017). A Review article that discusses structural racism in the USA and approaches toward advancing health equity.

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Mishra, A. et al. Stroke genetics informs drug discovery and risk prediction across ancestries. Nature 611 , 115–123 (2022). This paper reports an integrative, cross-ancestry polygenic score that predicts ischaemic stroke across genetic ancestries.

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Bellenguez, C. et al. New insights into the genetic etiology of Alzheimer’s disease and related dementias. Nat. Genet. 54 , 412–436 (2022). This paper reports new risk loci for Alzheimer’s disease and related dementias and generates a genetic risk score associated with their risk (or that of cognitive impairment progression) in the future.

Bentley, A. R. et al. Evaluating the promise of inclusion of African ancestry populations in genomics. NPJ Genom. Med. 5 , 5 (2020). A Review article that highlights including diverse individuals in genomic research in the context of individuals of African ancestry.

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Tishkoff, S. A. et al. The genetic structure and history of Africans and African Americans. Science 324 , 1035–1044 (2009). This paper reports extensive genetic diversity across Africa and the general level of admixture for African Americans.

Weinberger, D. R., Dzirasa, K. & Crumpton-Young, L. L. Missing in action: African ancestry brain research. Neuron 107 , 407–411 (2020). This paper presents the African Ancestry Neuroscience Research Initiative, which explores how genetic ancestry influences gene expression in the brain.

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This is a summary of: Benjamin, K. J. M. et al. Analysis of gene expression in the postmortem brain of neurotypical Black Americans reveals contributions of genetic ancestry. Nat. Neurosci . https://doi.org/10.1038/s41593-024-01636-0 (2024).

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Genetic Insights Project helps Nebraskans take charge of their health

Advancements in genetic research have paved the way for personalized medicine, and the Nebraska Medicine Genetic Insights Project is leading the charge.

This community health research initiative aims to provide participants with insightful genetic information that may significantly improve their care by detecting health risks early, preferably before disease onset. The project seeks to identify inherited conditions, such as:

• Hereditary breast and ovarian cancer syndrome.

• Lynch syndrome, which is associated with an increased risk of colorectal, ovarian and uterine cancers.

• Familial hypercholesterolemia, or a hereditary cause of very high cholesterol.

The statistics are sobering: 1 in 75 individuals is at increased genetic risk for at least one of these three serious genetic conditions. The Genetic Insights Project offers participants the opportunity to undergo a single blood draw, which will be used for this comprehensive genetic screening. The resulting information can potentially improve outcomes through early intervention and personalized care.

“It’s important to find out if you are at risk,” says Douglas Stoller, MD, PhD , an advanced heart failure and heart transplant cardiologist and the trial’s principal investigator. “It is very impactful information that can inform how you manage your care going forward.”

A large-scale endeavor

The Genetic Insights Project aims to enroll 100,000 participants over the next four years, making it the largest population health program in Nebraska. This will help to better understand how DNA may affect health for the entire community, which we hope will lead to protecting more people from inherited diseases for years to come.

To achieve this goal, the Genetic Insights Project has partnered with Helix. The nationally renowned organization specializes in population health and genomics. Our partnership with Helix, including offering clinical genetic testing, allows for future clinical testing to be conducted without the need for a new sample. This means patients may have the opportunity to learn about their health throughout their lifetime through a simpler testing process.

“After patients have undergone genetic sequencing, when we are studying treatments in the future, we can just search for past participants who would benefit from the potential new therapy and reach out to those patients to see if they are interested in participating in new studies,” Dr. Stoller says.

News you can use

While some may fear receiving “bad news” from a genetic test, learning more about their inherited conditions and risks can be empowering. It allows for early intervention, precision care and the opportunity to be among the first to benefit from future treatments.

“This information will let people make proactive decisions about their own health,” says Kyle Skiermont, PharmD, senior vice president of operations. “This will potentially delay, reduce or even prevent these things from happening later in life. We’ll also be able to better understand and treat conditions affecting the entire population of the state.”

May 2024 Advancing Health magazine

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The Strengthening Public Health Laboratories: Newborn Screening and Genetics – Hemoglobinopathies Project aims to prevent and lower complications of blood disorders such as sickle cell disease (SCD) and thalassemia by providing tools and technical assistance.

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In 2013, the Association of Public Health Laboratories' (APHL) Newborn Screening and Genetics in Public Health Program and the Centers for Disease Control and Prevention's (CDC) Division of Blood Disorders and Public Health Genomics (DBDPHG) began working together on the Strengthening Public Health Laboratories: Newborn Screening and Genetics – Hemoglobinopathies Project to help prevent and lower complications related to hemoglobinopathies such as sickle cell disease (SCD) and thalassemia . 'Hemoglobinopathies' is the medical term for a group of blood disorders and diseases affecting red blood cells.

The project provides public health technical assistance with screening (a test to look for a disease before it is noticeable) activities, including needs assessments for laboratories, as well as education for patients, caregivers, and healthcare workers on hemoglobinopathy screening programs.

Why is hemoglobinopathy screening important?

Hemoglobinopathy screening programs, including newborn screening (NBS) , identify which individuals have SCD or thalassemia. These conditions can influence an individual's long-term health or survival. Correctly screening for SCD and thalassemia is important to help individuals and their families get connected to healthcare services, treatment, and support groups to help manage the condition and improve long-term health.

What do NBS programs need for effective screening?

Hemoglobinopathy screening programs can differ by location and available resources. However, it is important that all NBS programs

Have access to information about the conditions for which they screen.
Use the correct technologies to perform screenings.
Appropriately report screening results to healthcare providers and families.
Understand the impact that these conditions have on individuals identified through NBS.

How is this project making a difference?

Through this project, the APHL Hemoglobinopathy Laboratory Workgroup was established. The workgroup consists of hemoglobinopathy screening experts from NBS programs throughout the United States, as well as partners from the CDC's Newborn Screening and Molecular Biology Branch of the National Center for Environmental Health and DBDPHG.

The workgroup has three strategies to improve hemoglobinopathy screening:

Building and enhancing the ability of NBS programs to better screen and report hemoglobinopathies
Identifying training needs around screening and diagnosis of hemoglobinopathies
Providing training opportunities to laboratory staff and leadership

Sickle Cell Disease and Thalassemia Programs

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What Is a Genetic Counselor? Skills, Salary, and More

Genetic counselors assess the risk of genetic disorders for people and families. Learn what a genetic counseling job involves and steps to entering this impactful health care career.

[Featured Image]: A male genetic counselor, wearing a blue shirt and glasses, is consulting with a female patient with blonde hair.

Genetic counselors are experts in medical genetics that support families and individuals looking to undertake genetic testing to assess the risks of developing certain inherited disorders, given their family history. Genetic counseling is a growing field, and innovative technologies continue to give genetic counselors new ways to analyze genetic data and help people. In this article, you'll learn more about genetic counselors, including what they do, how much they earn, and different specializations in the field. You'll also learn the steps you'll need to take to join the profession and explore cost effective, online courses that can help you get started today.

What is a genetic counselor?

A genetic counselor advises people on genetic conditions that might affect them or their relatives through an assessment of their family history. These conditions may include chromosomal disorders such as Down syndrome and fragile X syndrome, multifactorial disorders like cancer and diabetes, or monogenic disorders including cystic fibrosis and sickle cell disease.

Genetic counselors work closely with patients to educate them on types of hereditary conditions following their assessment, discussing whether they need genetic testing and the various options available, including any ethical considerations. People enter genetic counseling for many reasons, such as when they are pregnant or thinking of starting a family and want to know the risks of their child developing a specific genetic condition, or when managing their own health or that of a family member.

What does a genetic counselor do?

Genetic counselors work with various people concerned with genetic predispositions at all stages of life. This may include prenatal screening to determine whether a baby is likely to be born with a hereditary disease or condition, working with adults to assess whether they are likely to develop genetic diseases following the onset of certain symptoms.

They also provide counseling and support following testing, helping people adapt to the implications of results on their physical, mental, and familial well-being.

Typically, as a genetic counselor, you will do the following:

Interview patients to understand their medical and family history

Assess whether patients are at risk from genetic disorders using the information on family history

Discuss testing options with patients, including risks, social and ethical considerations, and benefits

Support patients and their families with counseling and education following results and before testing

Refer patients to necessary medical professionals

Perform prenatal genetic screening and pregnancy counseling

Support couples through premarital genetic screening and help families care for affected children

Provide counseling in cases of exposure to teratogenic drugs

Generally, genetic counselors work in hospitals or clinics but can also work in laboratories, clinical settings, and private practices.

Genetic counselor salary

The median salary for genetic counselors in the US is $80,150 as of May 2021, according to the US Bureau of Labor Statistics (BLS) [ 1 ]. Genetic counselor salaries generally range from $49,120 to $121,070. Salaries vary according to experience, location, type of employer, and industry.

Salary range in different industries

Typically, the amount you can expect to earn as a genetic counselor will vary based on the industry in which you work. According to the US BLS, here are the highest paying industries for genetic counselors in the United States [ 1 ]:

Medical and diagnostic laboratories: $95,870

Private and state hospitals: $79,810

Physician offices: $79,360

Education institutions such as colleges and universities: $79,100

Job outlook and related roles

US News Best Jobs of 2022 ranks genetic counseling eleventh for health care support roles [ 2 ]. The BLS, meanwhile, expects employment opportunities to grow 18 percent between 2021 and 2031, adding approximately 300 new job each year throughout the decade [ 3 ].

Career progression is positive, with plenty of options for specializing in a particular area, such as oncology and prenatal. There are also some niche specializations, such as psychiatric genetic counselors and chromosomal disorders counselors, as well as the opportunity to move into more senior positions with management responsibility.

Genetic counseling specializations

Genetic counselors can practice generally, or they may choose to specialize in a single area that relates to a type of condition or group of conditions. As a genetic counselor, you can also specialize in working with a particular population, such as children.

Cardiology

Genetic counselors specializing in cardiology work with people to establish a genetic risk for cardiovascular diseases, such as sudden death syndrome, hypercholesterolemia, and cardiomyopathy. In this specialization, you might collect information on family history, make recommendations for screening when necessary, and support patients through genetic testing, diagnosis, and options available.

A specialization in neurology means that a genetic counselor is qualified to establish a genetic link for neurological diseases such as Alzheimer's, dementia, and epilepsy. In this specialization, you might work with patients to decide whether they want to undergo testing, helping them understand the implications of doing so, and support them through the process after they've received their results.

Oncology specialists look for inherited risks of all types of cancer. By specializing in oncology, you would support patients and help them understand the risks of having children and passing on heredity cancer genes. You would also have the opportunity to offer cancer screening and discuss treatment options and risk reduction strategies.

Genetic counselors specializing in pediatrics work with families of children diagnosed with, or at risk of developing, an inherited condition. You would work hands-on to advise families on their medical options and offer emotional support.

Preconception

Preconception genetic counselors work with couples looking to conceive to assess any genetic predispositions they may have and support a low-risk pregnancy by offering advice and guidance on lifestyle and health.

Genetic counselors specializing in prenatal offer screening to expectant parents to determine the risks of their baby having genetic disorders. This can be a standard part of pregnancy care for patients considered at high-risk — generally those over 35 years of age.

Steps to becoming a genetic counselor

Genetic counselors are highly qualified and undertake many years of education and training to do their job effectively, which generally takes a minimum of six years. Here's what you can expect to do to join the profession:

1. Complete a bachelor’s degree.

The first step to becoming a genetic counselor is to earn a bachelor’s degree, ideally in a relevant subject such as biology or social sciences. However, the subject isn’t always a prerequisite for the next step, so long as you have a bachelor's degree. This step typically takes four years.

Read more: Bachelor of Science (BS) Degree: What It Is and How to Earn One

2. Earn a master’s degree in genetic counseling.

After earning a bachelor’s degree, the next step is enrolling in a master’s in genetic counseling degree program. Programs must be accredited by the Accreditation Council for Genetic Counseling (ABGC). Your master's degree program usually takes two years to complete.

The course covers areas such as molecular genetics, research methods, and ethics, as well as clinical experience on rotation, to cover various areas in the field. You must also undertake a research project or thesis.

3. Pass the board certification test from the ABGC.

Genetic counselors must gain certification to practice by passing a certification exam accredited by the ABGC. You must keep your certification up to date with ongoing professional development activities.

4. Apply for state licensure if required .

Many states require certified genetic counselors to apply for a license to practice. Licensing requirements vary, so check the requirements of the state in which you wish to work in order to establish whether you need a license.

5. Develop relevant skills.

As a genetic counselor, you'll use technical skills, like knowledge of research methods and lab techniques, alongside people skills that are vital to working with patients and other medical professionals. These people skills include:

Interpersonal skills: To simplify complex medical information for patients and caregivers to understand

Compassion: When dealing with people who have found out worrying or upsetting information about their health or that of someone with whom they are close

Critical thinking: To work out how best to present information to patients and how best to analyze risks

Decision making: Essential skill when considering how best to share knowledge with patients and their families.

If a career as a genetic counselor sounds interesting to you, then you might consider taking a cost-effective, online course to better familiarize yourself with the field. Duke University's An Introduction to Genetics and Evolution gives course takers a basic overview of some of the primary principles behind fundamental areas of biology and prepares them for more advanced coursework in the field.

How long does it take to become a genetic counselor? ‎

To become a genetic counselor, you must complete a bachelor’s degree, which typically takes four years, and a master’s degree that often takes a further two years. Following this, you must complete a certification exam and, in many cases, obtain a license to practice.

Therefore, it takes at least six years to complete all necessary education, and the timeline for certification, obtaining a license, and gaining a position will vary. ‎

Can I get a job in genetic counseling straight after completing a bachelor's degree? ‎

No. Following a bachelor’s degree, you must take a master’s degree accredited by ACGC, and then gain certification through an exam. You may also need a license depending on the state in which you plan on working in. ‎

Is genetic counseling a competitive field to get into? ‎

The US Bureau of Labor Statistics expects careers in the field of genetic counseling to grow by 18 percent between 2021 and 2031 3 . However, because it is a relatively small field, this still amount to only about 300 new job openings each year, so there will likely be competition for good positions. ‎

Article sources

US Bureau of Labor Statistics. “ Genetic Counselors , https://www.bls.gov/ooh/healthcare/genetic-counselors.htm#tab-5.” Accessed December 2, 2022.

US News. “ Best Health Care Support Jobs , https://money.usnews.com/careers/best-jobs/rankings/best-health-care-support-jobs.” Accessed December 2, 2022.

US Bureau of Labor Statistics. “ Genetic Counselors , https://www.bls.gov/ooh/healthcare/genetic-counselors.htm#tab-6.” Accessed December 2, 2022.

Keep reading

Coursera staff.

Editorial Team

Coursera’s editorial team is comprised of highly experienced professional editors, writers, and fact...

This content has been made available for informational purposes only. Learners are advised to conduct additional research to ensure that courses and other credentials pursued meet their personal, professional, and financial goals.

Tracking the cellular and genetic roots of neuropsychiatric disease

Anew analysis has revealed detailed information about genetic variation in brain cells that could open new avenues for the targeted treatment of diseases such as schizophrenia and Alzheimer's disease.

The findings, reported May 23 in Science , were the result of a multi-institutional collaboration known as PsychENCODE, founded in 2015 by the National Institutes of Health, which seeks new understandings of genomic influences on neuropsychiatric disease. The study was published alongside related studies in Science, Science Advances, and Science Translational Medicine.

Previous research has established a strong link between a person's genetics and their likelihood of developing neuropsychiatric disease, says Mark Gerstein, the Albert L. Williams Professor of Biomedical Informatics at Yale School of Medicine and senior author of the new study.

" The correlations between genetics and your susceptibility to disease are much higher for brain diseases than for cancer or heart disease," said Gerstein. "If your parents have schizophrenia, you're much more likely to get it than you are to get heart disease if your parents have the disease. There is a very large heritability for these brain-related conditions."

What's less clear, however, is how this genetic variation leads to disease.

"We want to understand the mechanism," said Gerstein. "What is that gene variant doing in the brain?"

For the new study, researchers set out to better understand the genetic variation across individual cell types in the brain. To do so, they performed several types of single-cell experiments on more than 2.8 million cells taken from the brains of 388 people, including healthy individuals and others with schizophrenia, bipolar disorder, autism spectrum disorder, post-traumatic stress disorder, and Alzheimer's disease.

From that pool of cells, the researchers identified 28 different cell types. Then they examined gene expression and regulation within those cell types.

In one analysis, the researchers were able to link gene expression to variants in "upstream" regulatory regions, bits of genetic code situated before the gene in question that can increase or decrease the gene's expression.

"That's useful because if you have a variant of interest, you can now link it to a gene," said Gerstein. "And that's really powerful because it helps you interpret the variants. It helps you understand what effect they're having in the brain. And because we looked across cell types, our data also allow you to connect that variant to an individual cell type of action."

The researchers also assessed how particular genes, such as those associated with neurotransmitters, varied across individuals and cell types, finding variability was usually higher across cell types than across individuals. This pattern was even stronger for genes that code for proteins targeted for drug treatment.

"And that's generally good for a drug," Gerstein said. "It means that those drugs are homing in on particular cell types and not affecting your whole brain or body. It also means those drugs are more likely to be unaffected by genetic variants and work in many people."

Using the data generated by the analysis, the researchers were able to map out within-cell type genetic regulatory networks and between-cell communication networks, and then plug those networks into a machine learning model. Then, using an individual's genetic information, the model could predict whether they had a brain disease.

"Because these networks were hard coded in the model, when the model made a prediction we could see which parts of the network contributed to it," said Gerstein. "So we could identify which genes and cell types were important for that prediction. And that can suggest candidate drug targets."

In one example, the model predicted an individual with a particular genetic variant might have bipolar disorder, and the researchers could see that prediction was based on two genes in three cell types. In another, the researchers identified six genes in six cell types that contributed to a schizophrenia prediction.

The model also worked in the opposite direction. The researchers could introduce a genetic perturbation and see how that might affect the network and an individual's health. This, Gerstein says, is useful for drug design or previewing how well drugs or drug combinations might fare as treatments.

Together, the findings could help facilitate precision-medicine approaches for neuropsychiatric disease, said the researchers.

To further this work, the consortium has made its results and model available to other researchers.

"Our vision is that researchers interested in a particular gene or variant can use our resources to better understand what it's doing in the brain or to perhaps identify new candidate drug targets to investigate more," said Gerstein.

Personalized Medicine
Diseases and Conditions
Sickle Cell Anemia
Brain Tumor
Disorders and Syndromes
Huntington's Disease
Brain Injury
Alzheimer's
Alzheimer's disease
Heritability
Dementia with Lewy bodies
Excitotoxicity and cell damage
Embryonic stem cell
Dopamine hypothesis of schizophrenia
Gene therapy

Story Source:

Materials provided by Yale University . Original written by Mallory Locklear. Note: Content may be edited for style and length.

Journal Reference :

Prashant S. Emani, Jason J. Liu, Declan Clarke, Matthew Jensen, Jonathan Warrell, Chirag Gupta, Ran Meng, Che Yu Lee, Siwei Xu, Cagatay Dursun, Shaoke Lou, Yuhang Chen, Zhiyuan Chu, Timur Galeev, Ahyeon Hwang, Yunyang Li, Pengyu Ni, Xiao Zhou, Trygve E. Bakken, Jaroslav Bendl, Lucy Bicks, Tanima Chatterjee, Lijun Cheng, Yuyan Cheng, Yi Dai, Ziheng Duan, Mary Flaherty, John F. Fullard, Michael Gancz, Diego Garrido-Martín, Sophia Gaynor-Gillett, Jennifer Grundman, Natalie Hawken, Ella Henry, Gabriel E. Hoffman, Ao Huang, Yunzhe Jiang, Ting Jin, Nikolas L. Jorstad, Riki Kawaguchi, Saniya Khullar, Jianyin Liu, Junhao Liu, Shuang Liu, Shaojie Ma, Michael Margolis, Samantha Mazariegos, Jill Moore, Jennifer R. Moran, Eric Nguyen, Nishigandha Phalke, Milos Pjanic, Henry Pratt, Diana Quintero, Ananya S. Rajagopalan, Tiernon R. Riesenmy, Nicole Shedd, Manman Shi, Megan Spector, Rosemarie Terwilliger, Kyle J. Travaglini, Brie Wamsley, Gaoyuan Wang, Yan Xia, Shaohua Xiao, Andrew C. Yang, Suchen Zheng, Michael J. Gandal, Donghoon Lee, Ed S. Lein, Panos Roussos, Nenad Sestan, Zhiping Weng, Kevin P. White, Hyejung Won, Matthew J. Girgenti, Jing Zhang, Daifeng Wang, Daniel Geschwind, Mark Gerstein, Schahram Akbarian, Alexej Abyzov, Nadav Ahituv, Dhivya Arasappan, Jose Juan Almagro Armenteros, Brian J. Beliveau, Sabina Berretta, Rahul A. Bharadwaj, Arjun Bhattacharya, Kristen Brennand, Davide Capauto, Frances A. Champagne, Chris Chatzinakos, H. Isaac Chen, Lijun Cheng, Andrew Chess, Jo-fan Chien, Ashley Clement, Leonardo Collado-Torres, Gregory M. Cooper, Gregory E. Crawford, Rujia Dai, Nikolaos P. Daskalakis, Jose Davila-Velderrain, Amy Deep-Soboslay, Chengyu Deng, Christopher P. DiPietro, Stella Dracheva, Shiron Drusinsky, Duc Duong, Nicholas J. Eagles, Jonathan Edelstein, Kiki Galani, Kiran Girdhar, Fernando S. Goes, William Greenleaf, Hanmin Guo, Qiuyu Guo, Yoav Hadas, Joachim Hallmayer, Xikun Han, Vahram Haroutunian, Chuan He, Stephanie C. Hicks, Marcus Ho, Li-Lun Ho, Yiling Huang, Louise A. Huuki-Myers, Thomas M. Hyde, Artemis Iatrou, Fumitaka Inoue, Aarti Jajoo, Lihua Jiang, Peng Jin, Connor Jops, Alexandre Jourdon, Manolis Kellis, Joel E. Kleinman, Steven P. Kleopoulos, Alex Kozlenkov, Arnold Kriegstein, Anshul Kundaje, Soumya Kundu, Junhao Li, Mingfeng Li, Xiao Lin, Shuang Liu, Chunyu Liu, Jacob M. Loupe, Dan Lu, Liang Ma, Jessica Mariani, Keri Martinowich, Kristen R. Maynard, Richard M. Myers, Courtney Micallef, Tatiana Mikhailova, Guo-li Ming, Shahin Mohammadi, Emma Monte, Kelsey S. Montgomery, Eran A. Mukamel, Angus C. Nairn, Charles B. Nemeroff, Scott Norton, Tomasz Nowakowski, Larsson Omberg, Stephanie C. Page, Saejeong Park, Ashok Patowary, Reenal Pattni, Geo Pertea, Mette A. Peters, Dalila Pinto, Sirisha Pochareddy, Katherine S. Pollard, Alex Pollen, Pawel F. Przytycki, Carolin Purmann, Zhaohui S. Qin, Ping-Ping Qu, Towfique Raj, Sarah Reach, Thomas Reimonn, Kerry J. Ressler, Deanna Ross, Joel Rozowsky, Misir Ruth, W. Brad Ruzicka, Stephan J. Sanders, Juliane M. Schneider, Soraya Scuderi, Robert Sebra, Nicholas Seyfried, Zhiping Shao, Annie W. Shieh, Joo Heon Shin, Mario Skarica, Clara Snijders, Hongjun Song, Matthew W. State, Jason Stein, Marilyn Steyert, Sivan Subburaju, Thomas Sudhof, Michael Snyder, Ran Tao, Karen Therrien, Li-Huei Tsai, Alexander E. Urban, Flora M. Vaccarino, Harm van Bakel, Daniel Vo, Georgios Voloudakis, Tao Wang, Sidney H. Wang, Yifan Wang, Yu Wei, Annika K. Weimer, Daniel R. Weinberger, Cindy Wen, Sean Whalen, A. Jeremy Willsey, Wing Wong, Hao Wu, Feinan Wu, Stefan Wuchty, Dennis Wylie, Chloe X. Yap, Biao Zeng, Pan Zhang, Chunling Zhang, Bin Zhang, Yanqiong Zhang, Ryan Ziffra, Zane R. Zeier, Trisha M. Zintel. Single-cell genomics and regulatory networks for 388 human brains . Science , 2024; 384 (6698) DOI: 10.1126/science.adi5199

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