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Highlights Archive

Eric Green

Genomics in Africa expands through the Human Heredity and Health in Africa Program

This month's The Genomics Landscape features stories about the expansion of the Human Heredity and Health in Africa (H3Africa) program, mouse knockouts and the "druggable" genome, the full ancestry data the Genome-Wide Association Study Catalog is releasing and all the latest news, funding opportunities and genomics research from NHGRI. There's also a reminder about the My Family Health Portrait tool, a place to share health information and learn about familial health conditions.

Posted: December 06, 2016

Physician attitudes will impact adoption of prenatal whole genome sequencing

Through a simple blood test, physicians will soon be able to map the fetus' entire collection of genes (the whole genome) using fetal DNA that floats in the mother's blood. But a survey of 1,000 physicians says that ethical guidelines must be developed first. Researchers with the National Human Genome Research Institute published their findings in the December 6th issue of the journal Prenatal Diagnosis.

Posted: December 06, 2016
Group of people holding letters of U, D, N

Undiagnosed Diseases Network sticks around

The Undiagnosed Diseases Network, an NIH Common Fund program aimed at solving challenging medical mysteries, isn't going anywhere anytime soon. The program has just approved funding through 2022. With this investment, the UDN will continue to accept participants with undiagnosed conditions and hopes to better understand how to become self-sustaining in the future. Funding announcements are planned for Summer 2017, pending available funds.

Posted: November 29, 2016
Prostate cancer

NHGRI researchers discover new genetic variants that increase prostate cancer risk

About half of a man's risk for developing prostate cancer arises from malfunctioning genetic variants that are inherited. Finding those variants is challenging, in part because each variant makes a modest contribution to disease risk. By examining the whole exomes - the 1-2 percent of the genome containing protein-coding genes - of 75 high-risk families, NHGRI researchers identified three new variants that increase a man's risk for developing prostate cancer. The findings were published Nov. 26 in Oncotarget.

Posted: November 28, 2016
ADHD and the Brain Connectome

NIH researchers identify inherited brain connections linked to ADHD

NHGRI researchers have identified connections in the brain that are linked to Attention Deficit Hyperactivity Disorder (ADHD). Researchers studied large, multi-generational families to detect which brain connections are heritable in ADHD, those passed down from parent to child. These heritable brain features can help researchers discover and understand the genes associated with ADHD. The study was published November 16 in JAMA Psychiatry.

Posted: November 22, 2016
Family at Thanksgiving dinner

Happy Thanksgiving! Collect and act on your family health history

As you celebrate Thanksgiving with your family, remember that this special day is also National Family Health History Day, a day that can be important to the health of you and your family. Collecting your family health history can help you detect unique disease risks, manage them before becoming sick, and help with treatment and diagnosis if you do become sick.

Posted: November 21, 2016

ClinGen and FDA guide use of genomic technologies in clinical care

Using genetic information in the clinic is expanding, requiring a dialogue between researchers, clinicians and regulatory bodies. ClinGen - co-funded by NHGRI, the National Cancer Institute, and the Eunice Kennedy Shriver National Institute of Child Health and Human Development - helps define the clinical relevance of genetic variants. Their new report describes how a dialogue between the FDA and ClinGen works in providing accurate genetic test results.

Posted: November 21, 2016
Expanding the ELSI Universe

Researchers in the ethical, legal and social implications (ELSI) of genomics to gather about future directions

On June 5-7, 2017, the conference Genomics and Society - Expanding the ELSI Universe will gather ethical, legal and social implications researchers to reflect on current research and discuss future directions. Submit an abstract or proposal by December 1, 2016. More information at

Posted: November 18, 2016
Faces of African people

Evolution and Adaptation in Africa: Implications for Health and Disease

On November 15, Sarah Tishkoff, Ph.D., gave the first lecture in the 2016-2017 Genomics and Health Disparities Lecture Series. Dr. Tishkoff studies genomic and phenotypic variation in ethnically diverse Africans, combining field work, laboratory research and computational methods to examine African population history. Video will be available soon.

Posted: November 10, 2016
NIH Summer Interns

Three students jump-start a career in genomics

Three students share their stories about being a part of the National Institutes of Health (NIH) Summer Internship Program in Biomedical Sciences. The program, one of four NIH internship subprograms, was launched in 2015 to increase the participation of students from underrepresented backgrounds in science. Non-traditional college students and students from diverse backgrounds are given the opportunity to perform cutting edge research in a federal lab. Posted: November 08, 2016

Eric Green

The International Summit on Human Genetics and Genomics

The pace of genomic advances does not seem to be slowing down, as evidenced by what I saw reported recently at last month's American Society of Human Genetics meeting in Vancouver. In this month's issue of The Genomics Landscape, I've highlighted some of these advances, including a recent gathering to help developing nations establish capabilities in genetics and genomics and bring the benefit of genomic medicine to their countries.

Posted: November 01, 2016
Applying of antiseptic to a wound on a child's knee.

NIH researchers unveil new wound-healing role for protein-folding gene in mice

National Institutes of Health (NIH), researchers have identified a novel role for a gene known as heat shock protein 60 (Hsp60), finding that it is critical in tissue regeneration and wound healing. Researchers found that topical treatment of an Hsp60-containing gel dramatically accelerates wound closure in a diabetic mouse model. The study was published online today, October 27, in the journal npj Regenerative Medicine.

Posted: October 27, 2016
Niemann-Pick Disease

Gene therapy shows promise for treating Niemann-Pick disease type C1

For the first time, NIH researchers have demonstrated in mice that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1), a rare and fatal disorder of the central nervous system. The study, led by researchers at the National Human Genome Research Institute and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, was published Oct. 26 in Human Molecular Genetics.

Posted: October 26, 2016

Clinical sequencing centers aim for guidelines

Genome sequencing is now used to diagnose patients, but developing standard practices for identifying genetic variants, interpreting their role and reporting results is a challenge. A study in Genetics in Medicine surveyed sequencing center practices and found some practices are shared, possibly indicating developing standard practices, while other practices might warrant more guidelines. The Clinical Sequencing Exploratory Research program, co-funded by NHGRI and the National Cancer Institute, conducted the study.

Posted: October 18, 2016
Leslie Biesecker, M.D.

NHGRI branch chief elected to National Academy of Medicine

Leslie G. Biesecker, M.D., chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, has been elected to the National Academy of Medicine (NAM). Dr. Biesecker is a clinical and molecular geneticist who studies the cause of rare disorders, such as Proteus syndrome, to improve medical treatment for affected individuals. NAM recognizes individuals who have made major contributions to the advancement of medical science, health care and public health.

Posted: October 13, 2016
Eric Green

NHGRI technology development programs blaze forward

In this issue of The Genomics Landscape, we feature an overview of NHGRI's impressive technology development programs and the many accomplishments and goals those programs have achieved. There's also a story on an NHGRI training program that "turns docs into researchers," a review of a recent workshop that focused on family health history tools and a welcome to two new policy and education fellows.

Posted: October 04, 2016
Nucleic Acid

NIH commits $6.7 million to advance DNA, RNA sequencing technology

NHGRI is pushing beyond current capabilities in genome sequencing. New funding awards, totaling approximately $6.7 million, are part of a technology investment that began in 2004. The aim is to advance the development of genome sequencing technologies that are faster, cheaper, and more accurate and sensitive than those we already have.

Posted: October 04, 2016
DNA double helix

FDA requests comments on draft guidances for Precision Medicine Initiative

The U.S. Food and Drug Administration (FDA) has announced two draft guidances to support President Obama's Precision Medicine Initiative. The guidances will help provide oversight for tests based on next generation sequencing, a technology that examines a person's DNA to detect medically important differences in genomic make-up that could increase disease risk. The 90-day comment period ends October 6, 2016 at 11:59 p.m. Eastern

Posted: October 04, 2016
Peter McGuire, Ph.D.

Training docs to be researchers, too

The Physician-Scientist Development Program (PSDP) at the National Human Genome Research Institute helps physicians develop research programs dedicated to the disorders they specialize in. The program trains fellows to use the tools that unlock information in the human genome for real world applications, such as finding cures for genetic diseases. Armed with training from the PSDP, Dr. Peter McGuire joins the Division of Intramural Research as its newest faculty member.

Posted: October 03, 2016
D N A double helix

FDA to hold public workshop on guidelines for sequencing-based clinical tests

In July, the U.S. Food and Drug Administration (FDA) announced two draft guidances regarding principles that oversee the use of next-generation DNA sequencing (NGS) technologies, specifically providing guidelines for NGS-based clinical tests. The FDA will hold a public workshop this Friday, September 23rd on NIH's main campus to frame the workshop goals, provide moderated panel discussions and give the public an opportunity to comment.

Posted: September 21, 2016
Globe showing the different trade routes from Africa with arrows in the form of double helixes.

NHGRI researcher calls for more genomic research of Africans, people of the African diaspora

Researchers have begun identifying genetic mutations that evolved over thousands of years to protect Africans from disease pathogens. NHGRI Researcher Charles Rotimi, Ph.D., calls for comprehensive DNA sampling and genetic characterization of Africans and the people of the African Diaspora in an opinion article in the journal Current Opinion in Genetics & Development.

Posted: September 16, 2016
Doctor with Patient

HHS takes steps to provide more information about clinical trials to the public

In an effort to make information about clinical trials widely available to the public, the U.S. Department of Health and Human Services (HHS) has issued a final rule specifying the requirements for registering and reporting summary results information to The new rule expands the legal requirements for submitting results. NIH also has issued a complementary policy for submitting summary results information for all NIH-funded clinical trials.

Posted: September 16, 2016
Line graph illustration

NIH supports new computational approaches for studying the genome's regulatory regions

New NIH grants will fund developing computational approaches to finding the differences in DNA that make people susceptible to disease. The awards, totaling around $11.1 million, support research in identifying these differences - or genetic variants - in the less-studied regions of the genome. Understanding these variants should provide clues to understanding how disease develops.

Posted: September 14, 2016
New syndrome

NHGRI discovers new syndrome using "gene-matching" tools

NHGRI has found a new syndrome characterized by intellectual disability, hearing loss, abnormal sexual development and birth defects. It is caused by new mutations in CHD4, which regulates how DNA is packaged and how RNA copies gene sequences during development. Using "gene-matching" to connect scientists interested in the same gene, researchers found the first three cases. Read about it in the American Journal of Human Genetics.

Posted: September 08, 2016
Eric Green

Centers of Excellence in Ethical, Legal, and Social Implications Research (CEER) Program

In this issue of The Genomics Landscape, we feature the history of the Centers of Excellence in Ethical, Legal, and Social Implications Research (CEER) Program dating back to the early days of genomics. We also highlight recent workshops on sharing summary statistics in genomic data and investigative device exceptions, the next stop on the Genome: Unlocking Life's Code traveling exhibition and NHGRI's summer trainees.

Posted: September 06, 2016
Yersinia pestis

Bubonic plague engages in evolutionary arms race with its host

A recent study by NHGRI researchers, and collaborators uncovers the attacks and counter-attacks between Yersinia pestis - the bacteria that cause the bubonic plague - and their mammal hosts. The plague bacteria evolved a toxin to paralyze the host's immune system. The host fights the infection through fever and inflammation, which the bacteria then hijack and suppress using another toxin. The research published online August 25 in Cell Host & Microbe.

Posted: September 01, 2016
Patient and doctor discussing genetic results and healthcare

IGNITE and Beyond: The Future of Genomic Medicine Implementation

On Tuesday, August 30, 2016, the National Human Genome Research Institute (NHGRI) hosted the IGNITE and Beyond: The Future of Genomic Medicine Implementation meeting. The meeting focused on research opportunities in the integration of genomic medicine into clinical care, and evaluated the contributions of the Implementing Genomics in Practice (IGNITE) Network to genomic medicine. Video will be available soon.

Posted: August 26, 2016

NIH researchers discover otulipenia, a new inflammatory disease

National Institutes of Health researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children. It is caused by the malfunction of OTULIN, a single gene on chromosome 5. They also identified anti-inflammatory treatments to ease some of the patients' symptoms: fever, skin rashes, diarrhea, joint pain and overall failure to grow or thrive. Read more in the Aug. 22, early edition of the Proceedings of the National Academy of Sciences.

Posted: August 22, 2016
Precision Medicine Cohort Prgram

Survey shows broad support for national precision medicine study

A recent survey designed to measure public attitudes about the Precision Medicine Initiative (PMI) Cohort Program has shown that most respondents were willing to participate in this nationwide research. The PMI Cohort Program is a longitudinal research effort that aims to engage 1 million or more U.S. participants to help improve prevention and treatment of disease. The results were published online August 17 in PLOS ONE. NHGRI's David Kaufman, Ph.D., led the research.

Posted: August 18, 2016
DNA Double Helix

Seeking: Director, Division of Genome Sciences

The National Human Genome Research Institute a component of the National Institutes of Health (NIH) and the Department of Health and Human Services (DHHS), is seeking exceptional candidates for the position of Director, Division of Genome Sciences. The ideal candidate will have the knowledge and expertise to lead NHGRI's funding for extramural research and training that is aimed at advancing the understanding of the structure and function of genomes and their implications for biology and disease etiology.

Posted: August 17, 2016