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Highlights Archive

Dr. Dayna Dreger

Smithsonian's HOT Topic features NHGRI's Dayna Dreger for National DNA Day

On Friday, April 28th, Dr. Dayna Dreger, a senior postdoctoral fellow in NHGRI's Division of Intramural Research, will lead an informal discussion about how human migration and culture are reflected by dog breed development. An event that continues our celebrations for National DNA Day, it's free and open to the public starting at 4:00 p.m. at One Species Theater, Hall of Human Origins, National Museum of Natural History.

Posted: April 27, 2017
Dr. Louisa Stark at GLEE meeting

NHGRI hosts vision meeting to advance genomic literacy for the public

Genomic advances are leading rapidly to exciting opportunities to use genomic information in medical care and aspects of everyday life. But there is a widening gap between the pace of genomic advances and the genomic literacy of the public. To address the gap, NHGRI hosted speakers from the fields of education, research and healthcare to propose genomic literacy for three target audiences: K-16 students, the general public and healthcare providers and to launch the Genomic Literacy, Education, and Engagement (GLEE) Initiative.

Posted: April 27, 2017
NIH Director Francis Collins, left, and astronaut Katie Rubins

DNA Day hosts Twitter Chat and Facebook Live with Collins and Rubins

Join NHGRI's National DNA Day (@DNAday) and @NIH for a National DNA Day Twitter Chat using #DNADayChat, today from 1:00 p.m.-2:00 p.m. Eastern, and watch a live-streamed discussion on Facebook Live from 3:25 to 4:00 p.m. NASA Astronaut Kathleen Rubins (@NASA_Astronauts #AstroKate), NIH Director Dr. Francis Collins (@NIHDirector), and NHGRI Director Dr. Eric Green (@Genome_gov) will participate, take questions and share their experiences in DNA research and DNA sequencing in outer space.

Posted: April 25, 2017
Students participating in DNA Day activities

Happy DNA Day! Celebrate with NHGRI resources

The National Human Genome Research Institute celebrates its 15th annual National DNA Day by organizing a nationwide network of educational events for students, teachers, health professionals and the general public. Celebrated on April 25th every year, National DNA Day aims to educate people about important scientific advances in genomics and how those advances may impact their lives. National DNA Day commemorates the successful completion of the Human Genome Project in 2003 and the discovery of DNA's double helix in 1953.

Posted: April 25, 2017
Health professionals review online  genomics resources during the 2016 short course for nurses, physician assistants and faculty

Health professionals "Short Course" seeks applicants

The NHGRI Short Course in Genomics: Nurse, Physician Assistant and Faculty Track, will hold its annual course given by leaders in genomics education and practice from August 8-11, 2017 on the NIH campus in Bethesda, Maryland. The course is targeted to health professionals and the faculty who educate them. In addition to lectures and panel discussions, the course includes interactive sessions with course participants and presenters. Apply now! Submission deadline: May 10, 2017, 5 p.m. Eastern

Posted: April 20, 2017
Child with ADHD

Researchers begin to understand ADHD genes with help from affected families

Attention-deficit/hyperactivity disorder (ADHD) is highly heritable, but researchers don't know very much about it. Read about the experience of someone participating in a National Institutes of Health clinical trial that is focused on finding the contributing genes. After National Human Genome Research Institute researchers identify the genes, they can begin to look for new medications, new behavioral interventions or new combinations of both.

Posted: April 18, 2017
Eric Green, M.D., Ph.D.

Sustaining life science data resources: An international perspective

In April's Genomics Landscape, Dr. Green discusses NHGRI's support of the widespread sharing of genomic data and supporting the robust resources that facilitate the organization, management and access to that data. Two recent papers in Nature emphasize the importance of these resources for ready access to data. Also included: The exhibit Genome: Unlocking Life's Code moves on to Peoria's Riverfront Museum and tracing genomics history through stories.

Posted: April 04, 2017
Dr. William Gahl at Pruzansky lecture

Dr. William Gahl inspires collaboration, sharing at Pruzansky lecture

Dr. William Gahl, clinical director at the National Human Genome Research Institute (NHGRI), gave the honorary Samuel Pruzansky Memorial Lecture on March 23 in Phoenix for the March of Dimes Clinical Genetics Conference. Although he's given dozens of lectures around the world about helping patients with undiagnosed diseases since establishing the Undiagnosed Diseases Program in 2008, this particular talk was truly inspirational. Posted: April 04, 2017

RNA Transcription

Comment now: dbGaP Data Submission and Access Process

NHGRI believes that broadly sharing research data will result in maximum public benefit, and we're committed to providing researchers with access to genomic data. The NIH Genomic Data Sharing Policy establishes a system to promote data sharing, while protecting research participants involved in genomics studies. We need your help to improve one of NIH's central data sharing tools for human genomic data: the database of Genotypes and Phenotypes, or dbGaP. Comment period closes April 7, 2017

Posted: April 03, 2017
Genome: Unlocking Life's Code Exhibit

Next up: Genome: Unlocking Life's Code plays Peoria!

Our traveling museum exhibit, Genome: Unlocking Life's Code, created in collaboration with the Smithsonian National Museum of Natural History, is making its way north to the Peoria Riverfront Museum in Peoria, Illinois. The exhibit started its journey in Washington, D.C. and was constructed to be disassembled and transported to museums and science centers across the United States. Traveling on a five-year, multicity tour, the exhibit brings the wonder of genomic science to our backyards! Come see the hands-on exhibit from April 1-May 29, 2017. Posted: March 31, 2017

Erdheim-Chester Disease

Genes associated with Erdheim-Chester disease also linked to cancer

Newly identified genes associated with Erdheim-Chester disease (ECD), an ultra-rare disease, are also linked to cancer, according to a new study by NHGRI researchers. Thus, ECD should be considered a type of cancer and treated by oncologists. A new clinical trial - enrolling ECD patients now - will test the use of the drugs dabrafenib and trametinib. Findings were published in Blood Advances.

Posted: March 30, 2017
Former education and policy fellows - Teresa Ramirez and Christa Wagner

Apply now for ASHG/NHGRI policy and education fellowships

The American Society of Human Genetics and the National Human Genome Research Institute are accepting applications for the 2017-2018 Genetics and Public Policy Fellowship and the Genetics and Education Fellowship for genetics professionals who want to pursue careers in science policy or education. The application period is open for both fellowships until April 21, 2017.

Posted: March 30, 2017
Genomics History

NHGRI oral history collection features influential genomics researchers

A collection of oral histories released today by the National Human Genome Research Institute (NHGRI) features candid conversations with pioneering scientists involved in the Human Genome Project and a rare discussion with all three institute directors. In each oral history, influential scientists offer extensive insight into science and medicine, as well as biographical details and commentary on the inner workings of NHGRI.

Posted: March 29, 2017
Angela Anderson, a 22-year-old woman who died from the fatal genetic disorder, Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis, or SJS/TEN.

NIH probes the genome to understand severe drug reaction

Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis, or SJS/TEN, is the severest of adverse drug reactions that affects the skin. NHGRI's Division of Genomic Medicine supports research to develop approaches for the use of genome sequencing and other tools to improve diagnosis, treatment and prevention of diseases, such as SJS/TEN, that might have saved a young woman's life.

Posted: March 27, 2017
Facial recognition software to diagnose DiGeorge Syndrome

Facial recognition software helps diagnose rare genetic disease

Researchers with NHGRI and their collaborators have successfully used facial recognition software to diagnose DiGeorge Syndrome, a rare, genetic disease in Africans, Asians and Latin Americans. This is the newest addition to the Atlas of Human Malformations in Diverse Populations launched last year. The study was published March 23, 2017, in the American Journal of Medical Genetics.

Posted: March 23, 2017
Patient with the doctor

Study identifies African-specific genomic variant associated with obesity

An international team of researchers has conducted the first study of its kind to look at the genomic underpinnings of obesity in continental Africans and African Americans. They discovered that approximately 1 percent of West Africans, African Americans and others of African ancestry carry a genomic variant that increases their risk of obesity and provides insight into why obesity clusters in families. The findings were published March 13, 2017, in the journal Obesity.

Posted: March 13, 2017
Dr. William Gahl and Dr. Cynthia Tifft answer questions for the March 3, 2017, Reddit AMA

The UDN joins forces with Reddit for an "AMA"

On March 3, 2017, in honor of Rare Disease Day, experts from the Undiagnosed Diseases Network (UDN) turned to Reddit to answer questions from the Reddit community as part of an "Ask Me Anything" (AMA). These rare disease clinical and research experts have joined forces to solve the world's most challenging medical mysteries. Supported by the NIH Common Fund, UDN uses genome sequencing in the clinic, along with a network of experts, to provide answers for patients and families affected by mysterious conditions. Here's a recap of the event.

Posted: March 08, 2017
Eric Green, M.D., Ph.D.

Rare disease research, DNA Day and feedback for the dbGap

This month's The Genomics Landscape, takes a look at rare disease research at NHGRI (Rare Disease Research: Not So Rare) and sends out a reminder to celebrate National DNA Day on April 25th by encouraging STEM education and outreach programs to hold local events. Dr. Green also calls attention to a Request for Information (RFI) that asks for feedback on the data-submission and data-access process to help streamline and enhance data management and data sharing.

Posted: March 07, 2017

NIH and USDA scientists publish goat genome sequence

NIH and USDA researchers have developed a new technique for reconstructing highly accurate reference genomes and have applied it to the domestic goat. Accurate reference genomes are important for understanding an organism's biology, for learning about the genetic causes of health and disease and, in animals, for making breeding decisions. The study was published March 6, 2017, in Nature Genetics.

Posted: March 06, 2017
A diverse group of people gathered in a circle talking.

PMI's All of Us Research Program moves forward

The Precision Medicine Initiative (PMI) All of Us Research Program, is sponsoring a workshop, Return of Genetic Results, on March 6-7 in Bethesda, Maryland. The workshop will focus on how to recruit 1 million American participants who represent the diversity of the United States, and discuss the challenges and solutions to returning genetic research results. Can't attend in person? Watch the workshop online! See NIH Videocasting and Podcasting.

Posted: March 02, 2017
Rare Disease Day

Celebrate Rare Disease Day 2017 at NIH

The National Center for Advancing Translational Sciences and the National Institutes of Health will celebrate Rare Disease Day on February 27, 2017 from 8:30 a.m. - 4:00 p.m. at Masur Auditorium, Building 10, on the Bethesda campus. Admission is free and open to the public in person or via webcast. In association with Global Genes®, participants are encouraged to wear their favorite pair of jeans! Rare Disease Day® takes place worldwide to raise awareness among policymakers and the public about rare diseases and their impact on patients' lives.

Posted: February 23, 2017
In Gaucher's disease, the small molecule NCGC607 chaperones mutated protein to the nerve cells, helping to break down the cell's waste products. Research on Gaucher's is just one of the rare diseases that could both benefit affected patients and provide insight into common disorders.

Rare disease research may benefit common diseases

National Human Genome Research Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also provides insights into more common disorders. They are underlining this important relationship in advance of Rare Disease Day at NIH, a day-long symposium that is part of a global effort to raise awareness of rare diseases. There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day. In the United States, rare diseases affect 10 percent of the population.

Posted: February 23, 2017
ENCODE Reddit AMA Participants: Mike Pazin, Dan Gilchrist and Elise Feingold

Reddit "Ask Me Anything": The ENCODE Project

NHGRI's ENCODE Project has spent 13 years building a catalog of all the functional elements in the human genome sequence, and making it available to scientists worldwide for the study of human health and disease. On February 9, 2017, ENCODE program directors in the Division of Genome Sciences at NHGRI, and ENCODE researchers from the University of California, San Francisco, turned to Reddit - a social news website and discussion forum - to answer questions from the Reddit community. Here's an event recap.

Posted: February 17, 2017
Doctor showing sequence data on iPad to patient

New NIH-ACMG fellowship to boost pool of physicians managing genomic medicine programs

The National Institutes of Health (NIH), in partnership with the American College of Medical Genetics and Genomics (ACMG), is seeking qualified physicians interested in acquiring credentials and experience to lead genomic medicine research and implementation programs at the NIH, major medical centers and other organizations. The goal of this fellowship is to increase the pool of physicians trained in managing research and implementation programs in genomic medicine.

Posted: February 15, 2017
Jeffrey Schloss

Jeffery Schloss, a pioneer of genome sequencing technology, retires

Jeffery Schloss, Ph.D., director of the Division of Genome Sciences at NHGRI, has retired after a successful career leading NHGRI's DNA Sequencing Technology Development Program and launching the Centers of Excellence in Genomics Sciences (CEGS) program. Known for his intellect, leadership and dedication, Dr. Schloss shares the story of his career path and the significant contributions he and his team achieved while at NHGRI.

Posted: February 13, 2017

NIH study reveals how melanoma spreads

Newly identified genes and genetic pathways in primary melanoma - the most serious form of skin cancer - could give researchers additional targets for developing new, personalized treatments for melanoma and, potentially, other cancers. Learning how these genes are expressed - turned on or off - could be used in the future to predict how and when the cancer cells will spread to other parts of the body and how fast they will grow. Read the study in the February 6, 2017, online issue of Pigment Cell and Melanoma Research.

Posted: February 08, 2017
Induced pluripotent stem cells (iPSC)

Findings: Induced pluripotent stem cells don't increase genetic mutations

Despite immense promise, adoption of induced pluripotent stem cells (iPSCs) in biomedical research and medicine has been slowed by concerns that these cells are prone to increased numbers of genetic mutations. A new study by NHGRI scientists suggests that iPSCs do not develop more mutations than cells that are duplicated by subcloning. Read the study in the early edition of The Proceedings of the National Academy of Sciences. for February 6, 2017.

Posted: February 07, 2017
Eric Green, M.D., Ph.D.>

Workshop on the Use of Race and Ethnicity in Genomics and Biomedical Research

In the February The Genomics Landscape, NHGRI Director Eric Green reports on an NHGRI and National Institute on Minority Health and Health Disparities (NIMHD) workshop held in October, which addressed the use of race and ethnicity data in genomics, and biomedical and clinical research. Also included: A new policy for the protection of human subjects, newborn sequencing, the next phase of ENCODE and a new fellowship now available in genomic medicine program management.

Posted: February 07, 2017
GWAS chip and Behçet's disease

Research provides more insight into genetic basis of Behçet's disease

Behçet's disease is a disease that destroys blood vessels through systemic inflammation, manifesting as painful oral and genital ulcers, as well as vision destroying inflammation of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix of genetic and environmental risk factors, but their interaction is poorly understood. The study appears in the February 6, 2017 online version of Nature Genetics.

Posted: February 06, 2017
The genome in three dimensions

NIH to expand critical catalog for genomics research

The National Institutes of Health (NIH) plans to expand its Encyclopedia of DNA Elements (ENCODE) Project, a fundamental genomics resource used by many scientists to study human health and disease. Funded NHGRI, a part of the NIH, the ENCODE Project strives to catalog all genes and regulatory elements - the parts of the genome that control whether genes are active or not - in humans and select model organisms. Four years of additional support will build on a long-standing commitment to developing freely available genomics resources for use by the scientific community.

Posted: February 02, 2017