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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and their collaborators, have successfully used … facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … The …
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… That event was extremely helpful in revealing some of the major issues that are on the minds of genome … to direct the program today. With the goal of improving disease management for individual patients and advancing … Interview with Jean McEwen Funding Opportunities Large Animal Testing Centers for Evaluation of Somatic Cell Genome …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
… Howard Chang, Stanford University Judy Cho, Icahn School of Medicine at Mt. Sinai Workshop Rationale Moderator: Howard … Chang (Stanford University) 1:05 - 1:15 p.m. Overview of NHGRI’s Strategic Vision Eric Green, NHGRI 1:15 - 1:25 … the Stage - Application of multi-omics to study health and disease Moderator: Judy Cho, Icahn School of Medicine at Mt. …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… Sickle Cell Disease … Sickle cell disease is a hereditary disease seen most often among people of African ancestry. … Autosome, Birth Defect, Gene, … is a hereditary disease seen most often among people of African ancestry. Caused by mutations in one of the genes …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… Jeannine Mjoseth … National Institutes of Health (NIH) researchers have identified a treatment that significantly decreases the risk of stroke  in children with a rare genetic disease called DADA2 (deficiency of adenosine deaminase type …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… New disease could provide insights into how the cell’s recycling … a healthy brain. … Researchers at the National Institutes of Health have discovered a new neurological condition … one child had abnormalities in the cerebellum, the part of the brain involved in complex movement among other …
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… used a DNA-editing technique to extend the lifespan of mice with the genetic variation associated with progeria, a rare genetic disease that causes extreme premature aging in children and … the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health; Broad Institute of …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… Dr. William Pavan received his B.S. in animal science from the University of Massachusetts, Amherst, and his Ph.D. in physiology from … associated skin cancer risks, as well as provide animal models for future studies of drug intervention. Dr. Pavan’s …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… to have weak facial muscles, cleft palates and curvature of the spine. Nor did they know what produced the phlegm that … child's lungs every 15 minutes for the first three years of their lives. … "You do what you have to do," said Janice … misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My sister Tonya …
Event
NHGRI, National Institute of Environmental Health Sciences (NIEHS) and National Cancer Institute (NCI) will host a pre-application interactive webinar for the Multi-Omics for Health and Disease program funding opportunity announcements (FOAs): RFA-HG-22-008,
RFA-HG-22-009 and RFA-HG-22-010.
… Genome Research Institute (NHGRI), National Institute of Environmental Health Sciences (NIEHS) and National Cancer … interactive webinar for the Multi-Omics for Health and Disease program funding opportunity announcements (FOAs). NIH program staff will provide an overview of the three FOAs, the goals and objectives of the program, …