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The National Human Genome Research Institute conducts genetic and genomic research, funds genetic and genomic research and promotes that research to advance genomics in health care.


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.

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.

RNA Transcription

We need your input: 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 National Institutes of Health (NIH) Genomic Data Sharing Policy establishes a system to promote data sharing, while also 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.

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.

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.