research topics in genetics

What Is Sickle Cell Disease?

You have around 35 trillion red blood cells moving around your body at all times. Typically they are rounded and flexible. What happens when they aren’t?

Jeffery DelViscio, Fonda Mwangi, Mary Budwick

Solving Inflammatory Bowel Disease’s Mysteries May Lead to New Therapies

Understanding genetics, immunology and the microbiomes of people with inflammatory bowel disease could aid in finding the right treatments for the condition

Heidi Ledford, Nature magazine

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A Freeze-Dried Woolly Mammoth Has Yielded the First Ever Fossilized Chromosomes

For the first time, researchers have reconstructed the 3D structure of ancient genetic material, in this case from a 52,000-year-old mammoth

Saima S. Iqbal

Out of Sight, ‘Dark Fungi’ Run the World from the Shadows

The land, water and air around us are chock-full of DNA from fungi that scientists can’t identify

Cody Cottier

Tiny Fern Has World’s Largest Genome

A small South Pacific fern boasts more than 50 times as many base pairs as the human genome

Max Kozlov, Nature magazine

Stolen Bacterial Genes Helped Whiteflies to Become the Ultimate Pests

Rather than relying on bacteria, whiteflies cut out the middleman and acquired their own genes to process nitrogen

Rohini Subrahmanyam

Revolutionary Genetics Research Shows RNA May Rule Our Genome

Scientists have recently discovered thousands of active RNA molecules that can control the human body

Philip Ball

How Sugar Gliders Got Their Wings

Several marsupial species, including sugar gliders, independently evolved a way to make membranes that allow them to glide through the air

Viviane Callier

Unraveling the Secrets of This Weird Beetle’s 48-Hour Clock

New research examines the molecular machinery behind a beetle’s strange biological cycle

Andrew Chapman

Forensic Genealogy Offers Families the Gift of Closure

The forensic scientist’s toolbox is growing thanks to creative methods that generate reliable leads, analyze evidence, identify suspects and solve cold cases

Nancy La Vigne

Ancient Malaria Genome from Roman Skeleton Hints at Disease’s History

Genetic information from ancient Roman remains is helping to reveal how malaria has moved and evolved alongside people

Tosin Thompson, Nature magazine

Rare Brown Panda Mystery Solved after 40 Years

Chinese researchers have found the gene responsible for the brown-and-white fur of a handful of giant pandas

Xiaoying You, Nature magazine

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Science News

Mitochondria can sneak DNA into the nuclei of brain cells

An analysis of tissue samples from nearly 1,200 older adults found that the more insertions individuals had, the younger they died.

Ancient DNA unveils a previously unknown line of Neandertals

A frog’s story of surviving a fungal pandemic offers hope for other species, more stories in genetics.

Freeze-drying turned a woolly mammoth’s DNA into 3-D ‘chromoglass’

A new technique for probing the 3-D structure of ancient DNA may help scientists learn how extinct animals functioned, not just what they looked like.

The last woolly mammoths offer new clues to why the species went extinct

The last population of woolly mammoths did not go extinct 4,000 years ago from inbreeding, a new analysis shows.

Child sacrifices at famed Maya site were all boys, many closely related

DNA analysis shows victims in one underground chamber at Chichén Itzá included twins, perhaps representing mythological figures.

Horses may have been domesticated twice. Only one attempt stuck

Genetic evidence suggests that the ancestors of domestic horses were bred for mobility about 4,200 years ago.

Scientists are fixing flawed forensics that can lead to wrongful convictions

People have been wrongly jailed for forensic failures. Scientists are working to improve police lineups, fingerprinting and even DNA analysis.

Thomas Cech’s ‘The Catalyst’ spotlights RNA and its superpowers

Nobel Prize-winning biochemist Thomas Cech’s new book is part ode to RNA and part detailed history of the scientists who’ve studied it.

50 years ago, chimeras gave a glimpse of gene editing’s future

Advances in gene editing technology have led to the first successful transplant of a pig kidney into a human.

The largest known genome belongs to a tiny fern

Though 'Tmesipteris oblanceolata' is just 15 centimeters long, its genome dwarfs humans’ by more than 50 times.

Here’s why some pigeons do backflips

Meet the scientist homing in on the genes involved in making parlor roller pigeons do backward somersaults.

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Genetics articles related to neuroscience research will be listed here.

Chemical Exposure May Lead to Early Puberty in Girls

Gene Therapy Offers Hope for Glaucoma and AMD

Study Sheds Light on Stem Cell Aging Process

Neurodevelopmental Disruptions Behind Schizophrenia Cognitive Deficits

Gene Therapy Restores Vision

RNA Therapy Improves Memory and Reduces Anxiety

Critical Longevity Gene Discovered

Schizophrenia Linked to Disrupted Synaptic Plasticity

“Forever Chemicals” May Disrupt Brain Development

How Astrocytes Can Become Nerve Cells

Study Links Gene Variations to Brain Changes in Essential Tremor

Increase in Protein Linked to Salt Intake Implicated in Multiple Sclerosis

Manipulating Brain Waves During Sleep With Sound

AI Conversations Help Conspiracy Theorists Change Their Views

High Doses of ADHD Meds Linked to Increased Psychosis Risk

Key Neurons Found to Predict Memory of People and Places

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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.

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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Stanford Online

Advanced topics in genetics and genomics program.

Stanford School of Medicine , Stanford Center for Health Education

All-Access Plan: $3,475 USD Interest-free payment options Per course $695 USD

30-35 hours

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Technologies like CRISPR and stem cell therapies, and research such as those in the fields of epigenetics and biotechnology, are changing how we understand and develop solutions for medicine, biology, and agriculture. The fields of genetics and genomics are constantly evolving from personalized treatment plans based on your genes, lifestyle, and environment to manipulating DNA and editing genetic code. The Advanced Topics in Genetics and Genomics track allows you to dive deeper into the topics you care about and provides you with up-to-date information on cutting-edge research and technologies in the health and medicine industries today.

This is the second Certificate Program in our two-part Genetics and Genomics series. Learn how research on genes and genomes is being applied to innovate the health and medicine industries. Need to brush up on the fundamentals? Check out the Foundations in Genetics and Genomics Program .

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Principles and Practices of Gene Therapy

Understanding Cancer at the Genetic Level

Genetic Engineering and Biotechnology

Stem Cell Therapeutics

Personal Genomics and Your Health

New Frontiers in Cancer Genomics

Epigenetics and Microbiomics in Precision Health

Biology and Applications of the CRISPR/Cas System

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$695 per course, 60 days to complete.

View and complete course materials, video lectures, assignments and exams, at your own pace. You also get 60 days of email access to your Stanford teaching assistant.

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Gain access to all 8 courses for one year with the All-Access Plan, and complete a minimum of 5 to earn a certificate. View and complete course materials, video lectures, assignments, and exams, at your own pace. You also get 365 days of email access to your Stanford teaching assistant.

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Enroll as a group or team and learn together. We can advise you on the best group options to meet your organization’s training and development goals and provide you with the support needed to streamline the process. Participating together, your group will develop a shared knowledge, language, and mindset to tackle the challenges ahead.

What You'll Earn

You’ll earn a Stanford Certificate of Achievement in Advanced Topics in Genetics and Genomics when you successfully complete a minimum of 5 courses out of 8 in this program.

This Stanford Certificate of Achievement represents a minimum of 50-90 hours of Stanford coursework, including learning outcomes assessment(s) (such as a project or capstone submission, final essays, presentations, a proctored exam, or other requirement), and other relevant criteria established by the School of Engineering.

Because your credential will be delivered as a digital certificate verified on the blockchain, you’ll be able to share your accomplishments with your network on your LinkedIn profile or other social platforms, verify your credentials to employers, and communicate the scope of your acquired expertise.

Academic Director

Michael Snyder

Stanford W. Ascherman Professor of Genetics

• School of Medicine

Michael Snyder is the Stanford Ascherman Professor and Chair of Genetics and the Director of the Center of Genomics and Personalized Medicine. Dr. Snyder received his Ph.D. training at the California Institute of Technology and carried out postdoctoral training at Stanford University.

He is a leader in the field of functional genomics and proteomics, and one of the major participants of the ENCODE project. His laboratory study was the first to perform a large-scale functional genomics project in any organism, and has launched many technologies in genomics and proteomics. These including the development of proteome chips, high resolution tiling arrays for the entire human genome, methods for global mapping of transcription factor binding sites (ChIP-chip now replaced by ChIP-seq), paired end sequencing for mapping of structural variation in eukaryotes, de novo genome sequencing of genomes using high throughput technologies and RNA-Seq. These technologies have been used for characterizing genomes, proteomes and regulatory networks. Seminal findings from the Snyder laboratory include the discovery that much more of the human genome is transcribed and contains regulatory information than was previously appreciated, and a high diversity of transcription factor binding occurs both between and within species.

He has also combined different state-of–the-art “omics” technologies to perform the first longitudinal detailed integrative personal omics profile (iPOP) of person and used this to assess disease risk and monitor disease states for personalized medicine. He is a cofounder of several biotechnology companies, including Protometrix (now part of Life Tehcnologies), Affomix (now part of Illumina), Excelix, and Personalis, and he presently serves on the board of a number of companies

Teaching Team

Russ Altman

Kenneth Fong Professor

Bioengineering

Russ Biagio Altman is the Kenneth Fong Professor of Bioengineering, Genetics, Medicine, Biomedical Data Science and (by courtesy) Computer Science) and past chairman of the Bioengineering Department at Stanford University. His primary research interests are in the application of computing and informatics technologies to problems relevant to medicine. He is particularly interested in methods for understanding drug action at molecular, cellular, organism and population levels. His lab studies how human genetic variation impacts drug response (e.g., http://www.pharmgkb.org/). Other work focuses on the analysis of biological molecules to understand the actions, interactions and adverse events of drugs (e.g., http://feature.stanford.edu/). He helps lead an FDA-supported Center of Excellence in Regulatory Science & Innovation.

Dr. Altman holds an AB from Harvard College, and an MD from Stanford Medical School, and a PhD in Medical Information Sciences from Stanford. He received the U.S. Presidential Early Career Award for Scientists and Engineers and a National Science Foundation CAREER Award. He is a fellow of the American College of Physicians (ACP), the American College of Medical Informatics (ACMI), the American Institute of Medical and Biological Engineering (AIMBE), and the American Association for the Advancement of Science (AAAS). He is a member of the National Academy of Medicine (formerly the Institute of Medicine, IOM). He is a past-president, founding board member, and a fellow of the International Society for Computational Biology (ISCB), and a past-president of the American Society for Clinical Pharmacology & Therapeutics (ASCPT). He has chaired the Science Board advising the FDA commissioner, served on the NIH Director’s Advisory Committee, and co-chaired the IOM Drug Forum. He is an organizer of the annual Pacific Symposium on Biocomputing, and a founder of Personalis, Inc. Dr. Altman is board certified in Internal Medicine and in Clinical Informatics. He received the Stanford Medical School graduate teaching award in 2000 and mentorship award in 2014.

Ximena Ares

Licensing Associate

Stanford University

Ximena Ares is a Licensing Associate at the Stanford Office of Technology Licensing (OTL). Dr. Ares received her Ph.D training in Molecular Biology in Buenos Aires, Argentina and completed her postdoctoral training at the University of California, San Francisco in Human Genetics. Later, she was a scientist at Geron Corporation and a Research Fellow at the Molecular Sciences Institute in Berkeley, California. She joined Stanford OTL in 2004, where she manages a portfolio of about 250 life sciences inventions, makes decisions about their intellectual property protection and negotiates license agreements and other contracts.

Euan Ashley

Roger and Joelle Burnell Professor

Born and raised in Scotland, Euan Angus Ashley graduated with 1st class Honors in Physiology and Medicine from the University of Glasgow. He completed medical residency and a PhD in molecular cardiology at the University of Oxford before moving to Stanford University where he trained in cardiology and advanced heart failure joining the faculty in 2006. His group is focused on the application of genomics to medicine. In 2010, he led the team that carried out the first clinical interpretation of a human genome. The paper published in the Lancet was the focus of over 300 news stories, became one of the most cited articles in clinical medicine that year, and was featured in the Genome Exhibition at the Smithsonian in DC. The team extended the approach in 2011 to a family of four and now routinely apply genome sequencing to the diagnosis of patients at Stanford hospital where Dr Ashley directs the Clinical Genome Service and the Center for Inherited Cardiovascular Disease. In 2013, Dr Ashley was recognized by the White House Office of Science and Technology Policy for his contributions to Personalized Medicine. In 2014, Dr Ashley became co-chair of the steering committee for the NIH Undiagnosed Diseases Network. Dr Ashley is a recipient of the National Innovation Award from the American Heart Association (AHA) and a National Institutes of Health (NIH) Director’s New Innovator Award. He is a member of the AHA Council on Functional Genomics, and the Institute of Medicine (IOM) of the National Academy of Sciences Roundtable on Translating Genomic-Based Research for Health. He is a peer reviewer for the NIH and the AHA as well as journals including Nature, the New England Journal of Medicine, the Lancet and the Journal of Clinical Investigation. He is co-founder of Personalis Inc, a genome scale genetic diagnostics company. Father to three young Americans, in his ‘spare’ time, he tries to understand American football, plays the saxophone, and conducts research on the health benefits of single malt Scotch whisky.

Laura Attardi

Catharine and Howard Avery Professor

Academic Appointments

• Professor, Radiation Oncology - Radiation and Cancer Biology
• Professor, Genetics
• Member, Bio-X
• Member, Child Health Research Institute
• Member, Stanford Cancer Institute

Israeli Society of Gene and Cell Therapy

Administrative Appointments

Founder of LogicBio Therapeutics, a gene therapy company (2014) Member of the American Society of Gene and Cell therapy (2011)

Honors & Awards

Presidential symposium lecturer at the annual meeting of the American Society for Gene and Cell Therapy (ASGCT) (2014) Recipient of the Child Health Research Institute (CHRI) fellowship (2013) 1st place- Stanford Genetics Department “Big Idea” Contest (2012)

Professional Education

MSc, Tel Aviv University, Tel Aviv, Israel, Genetics (2006) PhD, Tel Aviv University, Tel Aviv, Israel, Genetics (2011) Postdoctoral fellow, Stanford University (2011)

Michael Bassik

Associate Professor, Genetics

Chris Bjornson

Senior Scientific Researcher

Chris Bjornson holds a Ph.D. from the University of Washington and has served as a Research Associate for Calos Lab, Stanford University.

Senior Scientist, Population Genetics

Katarzyna ("Kasia") Bryc is a Senior Scientist of Population Geneticist at 23andMe. Dr. Bryc has developed statistical models that leverage genetic data to learn about ancient human history and migrations, recent population admixture and other forces shaping the human genome. Her prior research illuminated the genetic population structure of Africans, and the complex admixture of African Americans and Hispanic/Latino populations. Dr. Bryc received a B.A. from Stanford University, and her M.S. and Ph.D. in Biometry at Cornell under Dr. Carlos Bustamante. Prior to joining 23andMe, she was a NIH Ruth L. Kirschstein National Research Fellow at Harvard Medical School with Dr. David Reich, where she developed statistical methods to infer genetic diversity from sequence data.

Michele Calos

Professor, Genetics (Emerita)

Professor, Genetics

Member, Bio-X

Member, Child Health Research Institute

Chair, School of Medicine Appointments and Promotions Committee (2008 - 2010)

• Searle Scholar Award, Searle Family Foundation (1986)
• Graduate Fellowship, National Science Foundation (1979)
• B.A., M.A., Oxford University, Zoology
• Ph.D., Harvard University, Biochemistry & Molecular Biology
• Postdoc., University of Geneva, Biologie Moleculaire

Community and International Work

• Member, Board of Directors, American Society of Gene and Cell Therapy
• Advisory Committee, United States Food and Drug Administration, Bethesda, Maryland

Jan Carette

Associate Professor, Microbiology and Immunology

Mildred Cho

Professor, Pediatrics and Medicine

Emily Crane

Senior Principle Scientific Researcher

Dr. Emily Crane grew up in Palo Alto, California.  She left the sunshine state to earn her B.A. in Biology from Carleton College in Northfield, Minnesota.  She returned to California in 2005, where she enrolled in graduate school at UC Berkeley and began training as a geneticist with Dr. Barbara Meyer. She studied the connection between gene expression regulation and chromosome structure, earning a Ph.D. in Molecular and Cell Biology in 2011.  While pursuing her doctorate she was able to first pair research with teaching as a Graduate Student Instructor for both lab and lecture courses. She is currently a NIH IRACDA postdoctoral fellow at Stanford University, which allows her to do research while also teaching as a visiting professor at San Jose State University.  At Stanford she works in Dr. Jin Li’s lab, where she is currently setting up a screening system to look for regulators of RNA editing. Dysregulation of RNA editing has been linked to neurological diseases and cancers, and its complete loss is lethal.  Emily is passionate about the rapidly expanding field of personal genomics, which will soon be an indispensable resource for improving patient health.

Christina Curtis

Professor, Genetics and Biomedical Data Science

The Curtis laboratory couples innovative experimental approaches, high-throughput omic technologies, statistical inference and computational modeling to interrogate the evolutionary dynamics of tumor progression and therapeutic resistance. To this end, Dr. Curtis and her team have developed an integrated experimental and computational framework to measure clinically relevant patient-specific parameters and to measure clonal dynamics. Her research also aims to develop a systematic interpretation of genotype/phenotype associations in cancer by leveraging state-of-the-art technologies and robust data integration techniques. For example, using integrative statistical approaches to mine multiple data types she lead a seminal study that redefined the molecular map of breast cancer, revealing novel subgroups with distinct clinical outcomes and subtype-specific drivers.

Barbara Dunn

Final Foods Inc.

Barbara Dunn is a Senior Biocuration Research Scientist in the Department of Genetics at Stanford University, currently working with the Saccharomyces Genome Database in the laboratory of Dr. J. Michael Cherry. She received her A.B. in Botany at Berkeley, and her Ph.D. in Biological Chemistry at Harvard University, where she studied yeast telomeres in the laboratory of Dr. Jack Szostak. Her recent research has focused on using whole-genome DNA and RNA sequencing, ChIP-Seq, array-CGH, and other “omics” methods to broadly explore evolution in yeast, and particularly the genome structures and genome evolution of industrial yeasts (lager, ale, wine, ethanol, bread).

Dianna Fisk

Senior Scientific Curator

Dianna received her B.S. in Biology from Marquette University and her Ph.D. in Molecular Biology, Cell Biology and Genetics from the University of Oregon, where she studied how nuclear and chromosomal gene expression are coordinately regulated, in the laboratory of Dr. Alice Barkan. She then went on to work as a Scientific Curator under Dr. David Botstein and Dr. J. Michael Cherry, at the Saccharomyces Genome Database (SGD). After 13 years of analyzing, assembling and organizing the vast amounts of detailed biochemical and genetic data available on yeast, she switched to interpretation of human genomics data and is now the Senior Biocurator at the Stanford Clinical Genomics Service.

Professor, Medicine and Genetics

Dr. Ford is a medical oncologist and geneticist at Stanford, devoted to studying the genetic basis of breast and GI cancer development, treatment and prevention. Dr. Ford graduated in 1984 Magna Cum Laude (Biology) from Yale University where he later received his M.D. degree from the School of Medicine in 1989. He was a internal medicine resident (1989-91), Clinical Fellow in Medical Oncology (1991-94), Research Fellow of Biological Sciences (1993-97) at Stanford, and joined the faculty in 1998. He is currently Associate Professor of Medicine (Oncology) and Genetics, and Director of the Stanford Cancer Genetics Clinic, at the Stanford University Medical Center. Dr. Ford’s research goals are to understand the role of genetic changes in cancer genes in the risk and development of common cancers. He studies the role of the p53 and BRCA1 tumor suppressor genes in DNA repair, and uses techniques for high-throughput genomic analyses of cancer to identify molecular signatures for targeted therapies. Recently, his team has identified a novel class of drugs that target DNA repair defective breast cancers, and have opened clinical trials at Stanford and nationally using these “PARP inhibitors” for the treatment of women with “triple-negative” breast cancer. Dr. Ford’s clinical interests include the diagnosis and treatment of patients with a hereditary pre-disposition to cancer. He runs the Stanford Cancer Genetics Clinic, that sees patients for genetic counseling and testing of hereditary cancer syndromes, and enters patients on clinical research protocols for prevention and early diagnosis of cancer in high-risk individuals.

Julie Granka

Principal Scientist, Statistical Genetics

Julie Granka is a biologist and a statistician with expertise in genetics and evolution who currently serves as the Director of Personalized Genomics at Ancestry.com. Dr. Granka has experience developing and applying advanced computational tools to genetic data to understand population history and evolution. During fieldwork in South Africa, she collected and analyzed DNA samples from an African hunter-gatherer population to uncover the genetic basis of human height and skin pigmentation. Dr. Granka has also analyzed numerous other African populations to identify regions of the human genome where positive natural selection has occurred in recent history. In addition, she has studied the genetics of other organisms, including M. tuberculosis, the organism that causes tuberculosis. Dr. Granka received a B.S. in Biometry and Statistics from Cornell University where she worked with Dr. Carlos Bustamante. Afterwards, she received an M.S. in Statistics and a Ph.D. in Biology with Dr. Marcus Feldman at Stanford University.

Hank Greely

Deane F. and Kate Edelman Johnson Professor of Law

• Stanford Law School

Henry T. "Hank" Greely is the Deane F. and Kate Edelman Johnson Professor of Law and Professor, by courtesy, of Genetics at Stanford University. He specializes in ethical, legal, and social issues arising from advances in the biosciences, particularly from genetics, neuroscience, and human stem cell research. He chairs the California Advisory Committee on Human Stem Cell Research and the steering committee of the Stanford University Center for Biomedical Ethics, and directs the Stanford Center for Law and the Biosciences and the Stanford Program in Neuroscience and Society. He serves as a member of the NAS Committee on Science, Technology, and Law; the NIGMS Advisory Council, the Institute of Medicine’s Neuroscience Forum, and the NIH Multi-Center Working Group on the BRAIN Initiative. Professor Greely graduated from Stanford in 1974 and from Yale Law School in 1977. He served as a law clerk for Judge John Minor Wisdom on the United States Court of Appeals for the Fifth Circuit and for Justice Potter Stewart of the United States Supreme Court. He began teaching at Stanford in 1985.

Arthur Grossman

Professor (by courtesy), Biology

Arthur Grossman has been a Staff Scientist at The Carnegie Institution for Science, Department of Plant Biology since 1982, and holds a courtesy appointment as Professor in the Department of Biology at Stanford University. He has performed research across fields ranging from plant biology, microbiology, marine biology, ecology, genomics, engineering and photosynthesis and initiated large scale algal genomics by leading the Chlamydomonas genome project (sequencing of the genome coupled to transcriptomics). During his tenure at Carnegie, he mentored more than fifteen PhD students and approximately 40 post-doctoral fellows (many of whom have become very successful independent scientists at both major universities and in industry). In 2002 he received the Darbaker Prize (Botanical Society of America) for work on microalgae and in 2009 received the Gilbert Morgan Smith Medal (National Academy of Sciences) for the quality of his publications on marine and freshwater algae. In 2015 he was Vice Chair of the Gordon Research Conference on Photosynthesis and in 2017 was Chair of that same conference (Photosynthetic plasticity: From the environment to synthetic systems). He also gave the Arnon endowed lecture on photosynthesis in Berkeley in March of 2017, has given numerous plenary lectures and received a number of fellowships throughout his career, including the Visiting Scientist Fellowship - Department of Life and Environmental Sciences (DiSVA), Università Politecnica delle Marche (UNIVPM) (Italy, 2014), the Lady Davis Fellowship (Israel, 2011) and most recently the Chaire Edmond de Rothschild (to work IBPC in Paris in 2017-2018). He has been Co-Editor in Chief of Journal of Phycology and has served on the editorial boards of many well-respected biological journals including the Annual Review of Genetics, Plant Physiology, Eukaryotic Cell, Journal of Biological Chemistry, Molecular Plant, and Current Genetics. He has also reviewed innumerable papers and grants, served on many scientific panels that has evaluated various programs for granting agencies [NSF, CNRS, Marden program (New Zealand)] and private companies. He has also served on scientific advisory boards for both nonprofit and for profit companies including Phoenix Bioinformatics, Excelixis, Martex, Solazyme/TerraVia, Checkerspot and Phycoil.

Bethann Hromatka

Senior Director, Medical Affairs

Puma Biotechnology, Inc.

Natalie Jaeger

Senior Scientist

DKFZ German Cancer Research Center

Natalie is a Post-Doctoral Scientist in the laboratory of Professor Michael Snyder at Stanford University. Her duties include applying approaches comprising genome sequencing, transcriptomics, and proteomics to the analysis of human disease, to help understand the molecular basis of disease and aid the development of diagnostics and therapeutics.

Dennis Farrey Family Professor of Genetics

Mark A. Kay, MD, PhD, is the Director of the Program in Human Gene Therapy, and Professor in the Department of Pediatrics and Genetics at Stanford University School of Medicine. Dr. Kay is one of the founders of the American Society of Gene Therapy and served as its President in 2005-2006. Dr. Kay received the E. Mead Johnson Award for Research in Pediatrics in 2000 and was elected to the American Society for Clinical Investigation in 1997. He has organized many national and international conferences, including the first Gordon Conference related to gene therapy.

Kay is respected worldwide for his work in gene therapy for hemophilia and viral hepatitis. He is an Associate Editor of Human Gene Therapy and Molecular Therapy, and a member of the editorial boards of other peer-reviewed publications.

Here at Stanford University, Dr. Kay is involved in many committees, including the Administrative Panel on Biosafety Committee, and Chair of the Berry Foundation Committee. Along with his work in Gene Therapy Dr. Kay is an avid photographer and enjoys spending time outdoors photographing wildlife.

Professor, Developmental Biology (Emeritus)

Dr. Kim's lab's research focuses are in C. elegans aging, human aging, cell lineage analyzer, and ModENCODE.

Students, fellows, and faculty in the Department of Developmental Biology are working at the forefront of basic science research to understand the molecular mechanisms that generate and maintain diverse cell types in many different contexts, including the embryo, various adult organs, and the evolution of different species. Research groups use a wide array of cutting-edge approaches including genetics, genomics, computation, biochemistry, and advanced imaging, in organisms ranging from microbes to humans. This work has connections to many areas of human health and disease, including stem cell biology, aging, cancer, diabetes, arthritis, infectious disease, autoimmune disease, neurological disorders, and novel strategies for stimulating repair or regeneration of body tissues.

Jane Lebkowski

Regenerative Patch Technologies

President of Research and Development, Asterias

Joe Lipsick

Professor, Pathology and Genetics

Since participating in the initial identification of the protein product of the v-Myb oncogene as a postdoctoral fellow, Dr. Lipsick has dedicated his research career to understanding the function of the highly conserved Myb oncogene family. The laboratory has initially focused on the retroviral v-Myb oncogene and its cellular homologue, c-Myb. More recently, they have focused on the fruit fly Drosophila melanogaster as a model organism for understanding the human Myb oncogene family. They created the first null mutants of the sole Drosophila Myb gene, and showed that the absence of Myb resulted in mitotic abnormalities including chromosome condensation defects, aneuploidy, polyploidy, and aberrant spindle formation. In collaboration with the laboratory of Michael Botchan (UC Berkeley), they also showed that Myb was required for the site-specific initiation of DNA replication that occurs during chorion gene amplification in adult ovarian follicle cells. They themselves then showed that the absence of Myb causes a failure in the normal progression of chromosome condensation from heterchromatin to euchromatin. Most recently, they have found that Myb acts in opposition to repressive E2F and RB proteins to epigenetically regulate the expression of key components of the spindle assembly checkpoint and spindle pole regulatory pathways.

Kelly Ormond

Adjunct Professor, Genetics

Kelly Ormond is a genetic counselor (US ABGC certified) and ELSI researcher. She received her MS in Genetic Counseling from Northwestern University (1994) and a post-?graduate certificate in Clinical Medical Ethics from the MacLean Center at the University of Chicago (2001). She joined the Health Ethics and Policy Lab as a Senior Scientist in February 2021, and is an Adjunct Professor in the Department of Genetics at Stanford School of Medicine, Stanford University, California, USA

Matthew Porteus

Sutardja Chuk Professor

Dr. Porteus was raised in California and was a local graduate of Gunn High School before completing A.B. degree in “History and Science” at Harvard University where he graduated Magna Cum Laude and wrote an thesis entitled “Safe or Dangerous Chimeras: The recombinant DNA controversy as a conflict between differing socially constructed interpretations of recombinant DNA technology.” He then returned to the area and completed his combined MD, PhD at Stanford Medical School with his PhD focused on understanding the molecular basis of mammalian forebrain development with his PhD thesis entitled “Isolation and Characterization of TES-1/DLX-2: A Novel Homeobox Gene Expressed During Mammalian Forebrain Development.” After completion of his dual degree program, he was an intern and resident in Pediatrics at Boston Children’s Hospital and then completed his Pediatric Hematology/Oncology fellowship in the combined Boston Chidlren’s Hospital/Dana Farber Cancer Institute program. For his fellowship and post-doctoral research he worked with Dr. David Baltimore at MIT and CalTech where he began his studies in developing homologous recombination as a strategy to correct disease causing mutations in stem cells as definitive and curative therapy for children with genetic diseases of the blood, particularly sickle cell disease. Following his training with Dr. Baltimore, he took an independent faculty position at UT Southwestern in the Departments of Pediatrics and Biochemistry before again returning to Stanford in 2010 as an Associate Professor. During this time his work has been the first to demonstrate that gene correction could be achieved in human cells at frequencies that were high enough to potentially cure patients and is considered one of the pioneers and founders of the field of genome editing—a field that now encompasses thousands of labs and several new companies throughout the world. His research program continues to focus on developing genome editing by homologous recombination as curative therapy for children with genetic diseases but also has interests in the clonal dynamics of heterogeneous populations and the use of genome editing to better understand diseases that affect children including infant leukemias and genetic diseases that affect the muscle. Clinically, Dr. Porteus attends at the Lucille Packard Children’s Hospital where he takes care of pediatric patients undergoing hematopoietic stem cell transplantation.

Vice President of Program Management

Jose loves talking about science, especially to non-scientists. He has been involved in science outreach and education since he first learned of the simplicity and beauty of the structure of DNA. Naturally, Jose went on to graduate school at Stanford where he received a M.A. in Education and a Ph.D. in Developmental Biology. His doctoral work focused on understanding how epigenetic regulators control the biology of adult stem cells. For example, when some of these regulators misbehave, stem cells are lost to the detriment of the tissue they normally maintain. Why? How? Well, Jose still doesn’t know, but he hopes his work helped add one more piece to the never-ending puzzle of scientific research. After finishing his Ph.D., Jose moved to St. Louis, MO and joined Monsanto as part of a rotational leadership program, where he’s been doing a number of fun things both close and far from his science background. His year-long rotations have spanned biotechnology regulation and policy, global technology strategy, and development of molecular detection technologies. All of these rotations have complemented each other and contributed to his passion for sustainably and safely increasing food productivity and agricultural efficiency. Jose’s favorite activity is backpacking and talking about how light his backpack is over an open fire under the Milky Way-splattered sky of the Sierra Nevada. When he’s not outdoors, which is more frequent than he’d like, Jose enjoys good beer (peanut butter chocolate milk stout is real and delicious), good music (Tool), and thoughtful discussions involving science, education and politics.

Li (Stanley) Qi

Associate Professor

Maria Grazia Roncarolo

George D. Smith Professor

Maria Grazia Roncarolo, MD is the co-director of the Institute for Stem Cell Biology and Regenerative Medicine, the George D. Smith Professor in Stem Cell and Regenerative Medicine, Professor of Pediatrics and of Medicine (blood and marrow transplantation), chief of the Division of Pediatric Stem Cell Transplantation and Regenerative Medicine, and co-director of the Bass Center for Childhood Cancer and Blood Diseases.

Dr. Roncarolo leads efforts to translate scientific discoveries in genetic diseases and regenerative medicine into novel patient therapies, including treatments based on stem cells and gene therapy. A pediatric immunologist by training, she earned her medical degree at the University of Turin, Italy. She spent her early career in Lyon, France, where she focused on severe inherited metabolic and immune diseases, including severe combined immunodeficiency (SCID), better known as the "bubble boy disease." Dr. Roncarolo was a key member of the team that carried out the first stem cell transplants given before birth to treat these genetic diseases.

While studying inherited immune diseases, Dr. Roncarolo discovered a new class of T cells. These cells, called T regulatory type 1 cells, help maintain immune system homeostasis by preventing autoimmune diseases and assisting the immune system in tolerating transplanted cells and organs. Recently, Dr. Roncarolo completed the first clinical trial using T regulatory type 1 cells to prevent severe graft-versus-host disease in leukemia patients receiving blood-forming stem-cell transplants from donors who were not genetic matches.

Dr. Roncarolo worked for several years at DNAX Research Institute for Molecular and Cellular Biology in Palo Alto, where she contributed to the discovery of novel cytokines, cell-signaling molecules that are part of the immune response. She studied the role of cytokines in inducing immunological tolerance and in promoting stem cell growth and differentiation.

Dr. Roncarolo developed new gene-therapy approaches, which she pursued as director of the Telethon Institute for Cell and Gene Therapy at the San Raffaele Scientific Institute in Milan. She was the principal investigator leading the successful gene therapy trial for SCID patients who lack an enzyme critical to DNA synthesis, which is a severe life-threatening disorder. That trial is now considered the gold standard for gene therapy in inherited immune diseases. Under her direction, the San Raffaele Scientific Institute has been seminal in showing the efficacy of gene therapy for otherwise untreatable inherited metabolic diseases and primary immunodeficiencies.

Dr. Roncarolo's goal at Stanford is to build the teams and infrastructure to move stem cell and gene therapy to the clinic quickly and to translate basic science discoveries into patient treatments. In addition, her laboratory continues to work on T regulatory cell-based treatments to induce immunological tolerance after transplantation of donor tissue stem cells. In Nature Medicine, Dr. Roncarolo recently published her discovery of new biomarkers for T regulatory type 1 cells, which will be used to purify the cells and to track them in patients. She also is investigating genetic chronic inflammatory and autoimmune diseases that occur due to impairment in T regulatory cell functions.

Julien Sage

Elaine and John Chambers Professor

Dr. Sage studied biology at the École Normale Supérieure in Paris and did his PhD at the University of Nice and post-doctoral training at MIT. He is currently the Elaine and John Chambers Professor in Pediatric Cancer and a Professor of Genetics at Stanford University where he serves as the co-Director of the Cancer Biology PhD program. For his work on cancer genetics, he has been awarded a Damon Runyon Cancer Research Foundation Scholar Award, a Leukemia and Lymphoma Society Scholar Award, and an R35 Outstanding Investigator Award from the National Cancer Institute. Dr. Sage’s work has focused on the RB tumor suppressor pathway and how inactivation of RB promotes tumorigenesis in children and adult patients. In the past few years, the Sage lab has developed pre-clinical models for small cell lung cancer, an RB-mutant cancer, and has used these models to investigate signaling pathways driving the growth of this cancer type and to identify novel therapeutic targets in this recalcitrant cancer.

Lars Steinmetz

Dieter Schwarz Foundation Endowed Professor

Lars Steinmetz studied molecular biophysics and biochemistry at Yale University and conducted his Ph.D. research on genome-wide approaches to study gene function and natural phenotypic diversity at Stanford University. After a brief period of postdoctoral research at the Stanford Genome Technology Center, where he worked on functional genomic technology development, he moved to Europe in 2003. At the European Molecular Biology Laboratory (EMBL) in Heidelberg, Germany, he started his own group, focused on applying functional genomic approaches and high-throughput methods to study complex traits, transcription and the mitochondrial organelle at a systems level. In parallel, he maintained a focused group at the Stanford Genome Technology Center working on technology development. Since 2009, Lars acted as Joint Head of the department of Genome Biology at EMBL.

In October 2013 Lars became Professor of Genetics at Stanford University and Co-Director of the Stanford Genome Technology Center. His lab develops and applies cutting-edge technologies to investigate the function and mechanism of transcription, the genetic basis of complex phenotypes and the genetic and molecular systems underpinning disease. Their ultimate goal is to enable the development of personalized, preventative medicine.

In parallel to his research activities at Stanford, Lars continues to lead his lab at EMBL and acts as Associate Head of Genome Biology and Senior Scientist at EMBL. His Stanford and EMBL labs collaborate very closely.

In addition to his academic endeavours, Lars is a consultant and board member of several companies, advising in the areas of genetics and personalized medicine.

Ruth Tennen

Senior Product Scientist I

Ruth Tennen picked up her first pipette as a summer high-school student in a lab at the University of Connecticut Health Center. She received her bachelor’s degree in molecular biology from Princeton University and her Ph.D. in cancer biology from Stanford University. Her graduate work examined the intersection between epigenetics and disease: how human cells squeeze two meters of DNA into their nuclei while keeping that DNA accessible and dynamic, and how DNA packaging goes awry during cancer and aging. As a graduate student, Ruth shared her love of science by teaching hands-on classes to students at local schools, hospitals, and museums and by blogging on the San Jose Tech Museum’s website.

After completing her Ph.D., Ruth moved to Washington, DC to serve as an AAAS Science & Technology Policy Fellow. Working in the Bureau of African Affairs at the U.S. Department of State, she collaborated with colleagues in DC and at U.S. Embassies abroad to promote scientific capacity building, science education, and entrepreneurship in sub-Saharan Africa. She managed the Apps4Africa program, which challenges young African innovators to develop mobile apps that tackle problems in their communities. She also traveled to South Africa and Ghana, where she delivered lectures and workshops designed to spark the scientific excitement of young learners.

Ruth is currently a Product Scientist at 23andMe. In her free time, Ruth enjoys running, reading, quoting Seinfeld, and cheering for the UConn Huskies.

Sören Turan

Bayer Pharmaceuticals

Postdoc, Genetics

DFG Fellowship (2013)

• Diploma TU-Braunschweig (Germany) 2007
• Dr. rer. nat. Medical School Hannover (Germany)

Research Interest: Gene Therapy, (Stem) Cell Therapy, Genome Engineering, CRISPR/Cas9 gene editing

Monte Winslow

Associate Professor of Genetics and of Pathology

Monte Winslow is an Associate Professor of Genetics and Pathology at Stanford University.

Stacey Wirt Taylor

Commercial Planning Manager

Adaptive Biotechnologies Corp.

Stacey received her B.A. in Biology from Wellesley College and her Ph.D. in Cancer Biology from Stanford University. Her dissertation focused on uncovering new mechanisms for cell cycle control in mouse embryonic stem cells and neural progenitors. She went on to complete a post-doctoral fellowship in genome engineering, where she worked to develop nuclease technology for editing disease-causing mutations in human stem cells. In her spare time, Stacey volunteers at the San Jose Tech Museum, likes to camp and hike throughout Northern California, and is an avid photographer.

Simon H. Stertzer, MD, Professor

Joseph C. Wu, MD, PhD is Director of the Stanford Cardiovascular Institute and Professor in the Department of Medicine (Cardiology) and Department of Radiology (Molecular Imaging Program) at the Stanford University School of Medicine. Dr. Wu received his medical degree from Yale. He completed his medicine internship, residency and cardiology fellowship training at UCLA followed by a PhD (Molecular & Medical Pharmacology) at UCLA. Dr. Wu has received several awards, including the Burroughs Wellcome Foundation Career Award in Medical Sciences, Baxter Foundation Faculty Scholar Award, AHA Innovative Research Award, AHA Established Investigator Award, NIH Director’s New Innovator Award, NIH Roadmap Transformative Award, and Presidential Early Career Award for Scientists and Engineers given out by President Obama. He is on the editorial board of Journal Clinical Investigation, Circulation Research, Circulation Cardiovascular Imaging, JACC Imaging, Human Gene Therapy, Molecular Therapy, Stem Cell Research, and Journal of Nuclear Cardiology. He is a Council Member for the American Society for Clinical Investigation and a Scientific Advisory Board Member for the Keystone Symposia. His clinical activities involve adult congenital heart disease and cardiovascular imaging. His lab research focuses on stem cells, drug discovery, and molecular imaging.

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September 17, 2024

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Research team finds genetic risk-factor overlap between Alzheimer's disease, and all-cause and vascular dementias

by University of Texas Health Science Center at San Antonio

In landmark research, scientists at The University of Texas Health Science Center at San Antonio (UT Health San Antonio) have reported the largest-ever genome-wide association study of dementia from all causes, revealing an overlap of genetic risks including neurodegeneration, vascular factors and cerebral small-vessel disease.

Genome-wide association studies help scientists identify genes associated with a particular disease or trait by exploring the entire set of DNA, or genome, of a large group of people—in this case, a dataset of 800,597 individuals, with 46,902 and 8,702 cases of all-cause dementia and vascular dementia, respectively.

"Dementia is a multifactorial disease with Alzheimer's disease and vascular dementia pathologies making the largest contributions—and yet, most genome-wide association studies focus just on Alzheimer's disease," said Bernard Fongang, Ph.D., with the Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases at UT Health San Antonio. "We conducted such a study of all-cause dementia and discovered a substantial genetic overlap with vascular dementia."

Fongang, who also is with the departments of biochemistry and structural biology , and population health sciences, at the Joe R. and Teresa Lozano Long School of Medicine at UT Health San Antonio, is corresponding contact for the study titled "A genome-wide association meta-analysis of all-cause and vascular dementia," published July 24 in Alzheimer's & Dementia .

The Mega Vascular Cognitive Impairment and Dementia (MEGAVCID) consortium, an international consortium of cohorts focusing on the genetics of vascular cognitive impairment and dementia, is credited as the study author.

Two clinically distinct dementias

According to the study, Alzheimer's disease is traditionally considered the most common dementia subtype, followed by vascular dementia. The two conditions are clinically distinct, however.

Vascular dementia is diagnosed based on the presence of stroke or extensive cerebral vascular disease, with atherosclerosis and arteriolosclerosis considered the underlying pathologies. But a wealth of evidence from recent years has emphasized a broad role for brain vascular damage as a major mechanism for cognitive impairment.

It is now increasingly recognized that a component of vascular pathology is prominent in all major dementias and acts synergistically with amyloid beta , tau and other neurodegenerative pathologies to affect dementia risk, the study notes.

Because most genome-wide association studies have focused on Alzheimer's disease, highlighting multiple genetic risk variants, Fongang's team conducted such a study of all-cause dementia and examined the genetic overlap with vascular dementia.

Its vast dataset drew from individuals comprising the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE), the Alzheimer's Disease Genetics Consortium (ADGC), the European Alzheimer Disease Biobank (EADB) and the UK Biobank (UKBB), encompassing four different reported ancestries: European (98.5%), African (1.0%), Asian (0.4%) and Hispanics/Latino (0.1%).

Known genetic variants associated with Alzheimer's disease were replicated for all-cause dementia and vascular dementia. Functional analysis revealed the overlap of genetic risks of all-cause dementia with neurodegeneration, vascular risk factors such as hypertension and diabetes, and cerebral small vessel disease.

Essentially, known genetic variants for Alzheimer's disease were identified as risk factors for all-cause dementia and vascular dementia.

"Our findings expand the current knowledge base of dementia genetics by focusing on both all-cause dementia and vascular dementia," Fongang said. "We identified several putative genetic variants and biological pathways associated with all-cause dementia and vascular dementia , and added additional support for the involvement of vascular mechanisms in dementia pathogenesis."

The study concluded that the results should be validated in additional datasets including non-European individuals.

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Clinical studies give us a better understanding of how genes can cause or influence diseases. NHGRI researchers are working with patients, and with families with a history of inherited diseases, to learn more about the genetic components of common and rare disorders, and to develop new and more effective tests and treatments.

Deciding whether to participate in a clinical study is an important and personal process. Some reasons people choose to participate include:

• Participants in clinical studies help current and future generations. Through these studies, researchers develop new diagnostic tests, more effective treatments, and better ways of managing diseases with genetic components.
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Molecular Interplay in GI Health: Genetic, Epigenetic, and Microbiome Metabolite Dynamic

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About this Research Topic

The human gastrointestinal (GI) tract is home to a complex and dynamic ecosystem of microorganisms including bacteria, viruses (viromes), fungi (mycobiome), and archaea (archaeome), where host genetics, epigenetics, and microbiome-derived metabolites interact to maintain GI homeostasis and overall health. Recent research has illuminated the pivotal roles of genetic, epigenetic, and epi-transcriptomic factors in this process. These mechanisms orchestrate host-microbiome-derived metabolite interactions, influencing both normal physiological functions and the pathogenesis of GI disorders. Furthermore, studies have revealed that the interplay between the host and its microbiome is not solely dependent on genetic factors but is also significantly influenced by epigenetic and epi-transcriptomic modifications, including methylation, acetylation, etc., which can alter gene expression without changing the DNA sequence, thereby modulating host-microbiome interactions in the development and differentiation of healthy and diseased states. In the context of the GI tract, the microbiome’s metabolites have emerged as key players influencing host epigenetics by using integrated transcriptomic and epi-transcriptomic approaches with microbiome metabolites. Therefore, understanding these mechanisms is crucial as they orchestrate host-microbiome interactions, influencing both normal physiological functions and the pathogenesis of GI disorders including inflammatory bowel disease (IBD), irritable bowel syndrome (IBS), colorectal cancer (CRC), hepatocellular carcinoma (HCC), and other related conditions. Despite significant progress, the exact epigenetic mechanisms by which the microbiome influences host physiology and contributes to GI disorders remain poorly understood. The challenge lies in comprehensively mapping these complex interactions and understanding how they can be targeted for therapeutic benefit. The objective of this research topic is to elucidate these epigenetic pathways and identify novel biomarkers and therapeutic targets. Achieving this requires integrating recent advances in high-throughput sequencing, epigenome editing, and computational biology to dissect the host-microbiome epigenetic interface. This issue seeks to present pioneering research on how genetic, epigenetic, and epi-transcriptomic factors, and microbiome metabolites collectively influence GI health. We invite original research articles, reviews, and perspectives that cover, but are not limited to, the following topics: Genetic Influences on Microbiome Composition and Function: Analyzing how host genetic variations affect microbiome diversity, stability, and metabolic outputs, and their subsequent impact on GI health. Epigenetic Regulation of Host-Microbiome Interactions: Exploring the roles of DNA methylation, histone modifications, and chromatin remodeling in controlling genes involved in host-microbiome dynamics. Epi-Transcriptomic Modulation: Investigating RNA modifications, such as methylation and editing, and their impact on gene expression profiles related to microbiome interactions and GI stability. Microbiome Metabolites in GI Homeostasis: Understanding how microbiome-derived metabolites (e.g., short-chain fatty acids, bile acids, neurotransmitters) influence host cellular processes, immune responses, and metabolic functions. Integrative Approaches to GI Homeostasis: Utilizing multi-omics techniques to uncover the synergies between genetic, epigenetic, and epi-transcriptomic factors, and microbiome metabolites in maintaining GI equilibrium and identifying biomarkers for GI diseases. Pathophysiological Implications: Addressing how disruptions in these regulatory networks contribute to GI disorders such as IBD, CRC, HCC, and metabolic syndromes.

Keywords : human GI tract, gut microbiome, host genetics, host epigenetics, epi-transcriptomics, GI homeostasis, microbiome-derived metabolites, DNA methylation, histone acetylation

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Breakthrough 10-Year Study: Immune Therapy Transforms Survival for Advanced Melanoma Patients

Bringing radioimmunotherapy to solid tumors, sophia presents multimodal ai-driven research on patient stratification in lung cancer, msk researchers discover new type of sclc, breast, ovarian cancer risks of rad51c variants assessed systematically.

In an advance for AI in drug discovery, SOPHiA GENETICS, in collaboration with AstraZeneca, recently presented data generated using multimodal machine learning models to identify subgroups of stage IV non-small cell lung cancer (NSCLC) patients who could most benefit from a specific treatment—the addition of tremelimumab to durvalumab and chemotherapy.

The team conducted a retrospective, multimodal analysis of the POSEIDON Phase III clinical trial (NCT03164616). This trial originally demonstrated that the combination of tremelimumab, durvalumab, and chemotherapy significantly increases progression-free survival (PFS) and overall survival (OS) versus chemotherapy in patients with metastatic NSCLC, which lead to approval of this regiment globally in NSCLC.

The SOPHiA GENETICS study used multimodal machine learning models to analyze clinical, biological, genomic, and imaging data, pinpointing patient subgroups who are most likely to benefit from the combination treatment.

“The objective of this project was to apply a multimodal machine learning approach to the results of this clinical trial to identify specific patient subpopulations that may get a higher predicted benefit from the addition of tremelimumab to durvalumab and chemotherapy,”  Philippe Menu, MD, PhD, told Inside Precision Medicine . He is CMO and CPO at SOPHiA.

He added that, “The results of this re-analysis were positive, in the sense that we could identify a group of patients across lung cancer histologies that are predicted to show a 25% relative risk reduction of death with the addition of tremelimumab to the durvalumab and chemotherapy backbone.”

The research highlighted signatures identifying patients with non-squamous metastatic NSCLC who may derive higher OS benefit from the addition of tremelimumab to durvalumab plus chemotherapy in the first-line treatment setting.

In particular, EGFR wild-type, FGFR3 wild-type, CDKN2A wild-type, KRAS mutation, and STK11 mutation, as a signature, were identified as being associated with a higher OS benefit. These findings, the researchers say, could provide an exploration avenue towards a more tailored approach to patient care.

Menu explained, “The full data stack of the clinical trial was augmented through the generation of radiomics data from the medical images. Briefly, CT scans were digitally re-analyzed to focus only on the tumors in the images, and about 200 different data metrics known as ‘radiomics features’ were generated. In that sense, the images were translated into data.

Then a multimodal machine learning model was applied across the combined data stacks of genomics, clinical, laboratory, radiology and radiomics data to identify subpopulations of patients that are predicted to draw a higher overall survival benefit from the addition of tremelimumab to the durvalumab-chemotherapy backbone.”

“Our collaboration with AstraZeneca represents a major step forward in personalized oncology. Non-small cell lung cancer remains one of the most challenging cancers to treat due to its complex biology and the late stage at which it is often diagnosed,” said Jurgi Camblong, PhD, co-founder and CEO of SOPHiA GENETICS.

“This study harnesses the power of multimodal data and advanced AI to identify which patients are most likely to benefit from specific therapies. By tailoring treatment strategies based on a patient’s unique multimodal profile, we aim to improve outcomes and offer new hope to those battling this difficult disease.”

The study was presented as a poster by Ferdinandos Skoulidis, the department of thoracic medical oncology, University of Texas MD Anderson Cancer Center at ESMO 2024, in Barcelona last week.

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• Published: 18 September 2024

Gene discovery and biological insights into anxiety disorders from a large-scale multi-ancestry genome-wide association study

• Eleni Friligkou 1 , 2 ,
• Solveig Løkhammer 1 , 3 , 4 ,
• Brenda Cabrera-Mendoza   ORCID: orcid.org/0000-0003-4729-9997 1 , 2 ,
• Jie Shen 1 , 5 ,
• Jun He   ORCID: orcid.org/0000-0003-4467-7649 1 , 2 ,
• Giovanni Deiana   ORCID: orcid.org/0009-0000-6148-3972 1 , 6 ,
• Mihaela Diana Zanoaga 1 , 7 ,
• Zeynep Asgel 1 , 8 ,
• Abigail Pilcher 1 ,
• Luciana Di Lascio 1 , 9 ,
• Ana Makharashvili 1 , 2 ,
• Dora Koller   ORCID: orcid.org/0000-0002-0415-0466 1 , 10 ,
• Daniel S. Tylee   ORCID: orcid.org/0000-0002-7579-6096 1 ,
• Gita A. Pathak 1 , 2 &
• Renato Polimanti   ORCID: orcid.org/0000-0003-0745-6046 1 , 2 , 11 , 12 , 13  

Nature Genetics ( 2024 ) Cite this article

Metrics details

• Genome-wide association studies
• Psychiatric disorders

We leveraged information from more than 1.2 million participants, including 97,383 cases, to investigate the genetics of anxiety disorders across five continental groups. Through ancestry-specific and cross-ancestry genome-wide association studies, we identified 51 anxiety-associated loci, 39 of which were novel. In addition, polygenic risk scores derived from individuals of European descent were associated with anxiety in African, admixed American and East Asian groups. The heritability of anxiety was enriched for genes expressed in the limbic system, cerebral cortex, cerebellum, metencephalon, entorhinal cortex and brain stem. Transcriptome-wide and proteome-wide analyses highlighted 115 genes associated with anxiety through brain-specific and cross-tissue regulation. Anxiety also showed global and local genetic correlations with depression, schizophrenia and bipolar disorder and widespread pleiotropy with several physical health domains. Overall, this study expands our knowledge regarding the genetic risk and pathogenesis of anxiety disorders, highlighting the importance of investigating diverse populations and integrating multi-omics information.

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Data availability

The genome-wide association statistics generated by the current study are available in Zenodo ( https://doi.org/10.5281/zenodo.13135834 ) 105 . GWAS-data-related cohorts included in this study were derived from the following sources: AoU, https://workbench.researchallofus.org/ ; FinnGen, https://www.finngen.fi/en/access_results ; iPSYCH, https://ipsych.dk/en/research/downloads ; MVP, https://www.ncbi.nlm.nih.gov/projects/gap/ ; PGC, https://pgc.unc.edu/for-researchers/download-results/ ; UKB, https://pan.ukbb.broadinstitute.org/ .

Code availability

The study used the following computational packages: gSEM, https://github.com/GenomicSEM/GenomicSEM ; METAL, https://github.com/statgen/METAL ; GCTA-COJO, https://yanglab.westlake.edu.cn/software/gcta/#COJO ; PAINTOR, https://github.com/gkichaev/PAINTOR_V3.0 ; LDSC, https://github.com/bulik/ldsc ; PRS-CS, https://github.com/getian107/PRScs ; PLINK, https://www.cog-genomics.org/plink/ ; MetaXcan, https://github.com/hakyimlab/MetaXcan ; FUSION, https://github.com/gusevlab/fusion_twas ; HyPrColoc, https://github.com/cnfoley/hyprcoloc ; LAVA, https://github.com/josefin-werme/LAVA ; MixeR, https://github.com/precimed/mixer ; LCV, https://github.com/lukejoconnor/LCV ; CAUSE, https://github.com/jean997/cause ; MRlap, https://github.com/n-mounier/MRlap .

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Acknowledgements

This study was supported by grants from the National Institutes of Health (RF1 MH132337 to R.P., R33 DA047527 to R.P. and K99 AG078503 to G.A.P.), One Mind (to R.P.), the Alzheimer’s Association (Research Fellowship AARF-22-967171 to G.A.P.), the American Foundation for Suicide Prevention (PDF-1-022-21 to B.C.M.), Horizon 2020 (Marie Sklodowska-Curie Individual Fellowship 101028810 to D.K.), the University of Bergen (International Training Grant to S.L.) and the Yale Franke Program in Science and Humanities (to B.C.M.). We also acknowledge the contribution of the participants and the investigators involved in the UKB, the FinnGen Project, the MVP, the AoU Research Program, the iPSYCH study and the PGC. The AoU Research Program is supported by the National Institutes of Health, Office of the Director: Regional Medical Centers: 1 OT2 OD026549; 1 OT2 OD026554; 1 OT2 OD026557; 1 OT2 OD026556; 1 OT2 OD026550; 1 OT2 OD 026552; 1 OT2 OD026553; 1 OT2 OD026548; 1 OT2 OD026551; 1 OT2 OD026555; IAA: AOD 16037; Federally Qualified Health Centers: HHSN 263201600085U; Data and Research Center: 5 U2C OD023196; Biobank: 1 U24 OD023121; The Participant Center: U24 OD023176; Participant Technology Systems Center: 1 U24 OD023163; Communications and Engagement: 3 OT2 OD023205; 3 OT2 OD023206; and Community Partners: 1 OT2 OD025277; 3 OT2 OD025315; 1 OT2 OD025337; 1 OT2 OD025276.

Author information

Authors and affiliations.

Department of Psychiatry, Yale School of Medicine, New Haven, CT, USA

Eleni Friligkou, Solveig Løkhammer, Brenda Cabrera-Mendoza, Jie Shen, Jun He, Giovanni Deiana, Mihaela Diana Zanoaga, Zeynep Asgel, Abigail Pilcher, Luciana Di Lascio, Ana Makharashvili, Dora Koller, Daniel S. Tylee, Gita A. Pathak & Renato Polimanti

Cooperative Studies Program Clinical Epidemiology Research Center (CSP-CERC), VA Connecticut Healthcare System, West Haven, CT, USA

Eleni Friligkou, Brenda Cabrera-Mendoza, Jun He, Ana Makharashvili, Gita A. Pathak & Renato Polimanti

Department of Clinical Science, University of Bergen, Bergen, Norway

Solveig Løkhammer

Dr. Einar Martens Research Group for Biological Psychiatry, Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway

Department of Cardiology, Children’s Hospital of Soochow University, Suzhou, China

Center for Neuroscience, Pharmacology Unit, School of Pharmacy, University of Camerino, Camerino, Italy

Giovanni Deiana

Department of Computational Biology, University of Lausanne, Lausanne, Switzerland

Mihaela Diana Zanoaga

Department of Child and Adolescent Psychiatry, NYU Langone Health, New York Metropolitan Area, New York, NY, USA

Zeynep Asgel

IRCCS Istituto Clinico Humanitas, Rozzano, Milan, Italy; Humanitas University, Pieve Emanuele, Milan, Italy

Luciana Di Lascio

Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, Barcelona, Spain

Dora Koller

Wu Tsai Institute, Yale University, New Haven, CT, USA

Renato Polimanti

Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT, USA

Department of Biomedical Informatics and Data Science, Yale School of Medicine, New Haven, CT, USA

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E.F. and R.P. designed the study. E.F., S.L., B.C.M., J.S., J.H., G.D., M.D.Z., Z.A., A.P., L.D.L., D.K., D.S.T., G.A.P. and R.P. conducted computational and statistical analyses. E.F., S.L., B.C.M., J.S., J.H., G.D., M.D.Z., Z.A., A.P., L.D.L., A.M., D.K., D.S.T., G.A.P. and R.P. interpreted the results. E.F. and R.P. wrote the initial draft of the manuscript. E.F., S.L., B.C.M., J.S., J.H., G.D., M.D.Z., Z.A., A.P., L.D.L., A.M., D.K., D.S.T., G.A.P. and R.P. provided comments and revised the manuscript. R.P. obtained the primary funding for the study and supervised the analyses.

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Correspondence to Renato Polimanti .

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R.P. is paid for editorial work on the journal Complex Psychiatry and reports a research grant from Alkermes outside the scope of the present study. D.K. is the founder of EndoCare Therapeutics. The remaining authors declare no competing interests.

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Friligkou, E., Løkhammer, S., Cabrera-Mendoza, B. et al. Gene discovery and biological insights into anxiety disorders from a large-scale multi-ancestry genome-wide association study. Nat Genet (2024). https://doi.org/10.1038/s41588-024-01908-2

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119 Genetics Research Topics You Must Know About

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

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

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

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

What Is Genetics?

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

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

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

Tips On How To Write A Decent Research Paper On Genetics

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

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

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

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

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

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

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

Good Ideas For Genetics Topics

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

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

Hot Topics In Genetics

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

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

Molecular Genetics Topics

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

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

Human Genetics Research Topics

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

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

Current Topics in Genetics

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

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

Controversial Genetics Topics

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

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

Get Professional Help Online

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

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

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122 The Best Genetics Research Topics For Projects

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

Choosing Research Topics in Genetics

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

Interesting Genetics Topics for your Next Research Paper

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

Hot and Controversial Topics in Genetics

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

Molecular Genetics Topics

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

Genetic Engineering Topics

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

Controversial Human Genetic Topics

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

DNA Research Paper Topics

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

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

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

Genetics Topics For Presentation

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

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

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

Biotechnology Topics For Research Papers

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

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

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

Tips for Writing an Interesting Genetics Research Paper

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

Fully Understand the Research Paper Format

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

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

Research Thoroughly and Create an Outline

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

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

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

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

Get Down to Work

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

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

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