Search Results
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… the 25 percent diagnosis rate for unknown diseases," said Thomas Markello, M.D., Ph.D., the study's corresponding …
About NHGRI
The Genomics and Society Working Group advises on planning and priorities for genomics and society activities at NHGRI.
… University, 2022-2026 … (Institutions and Dates Served) Barbara Bernhardt, M.S., C.G.C. University of Pennsylvania, …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… Read the study Elma Aflaki, Daniel K. Borger, Nima Moaven, Barbara K. Stubblefield, Steven A. Rogers, Samarjit Patnaik, …
Staff
Dr. Mullikin was the former director of the NIH Intramural Sequencing Center (NISC).
… CS, Lin S, Abecasis GR, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, … Riebow N, Schandler K, Schmidt B, Sison C, Stantripop M, Thomas J, Thomas P, Vemulapalli M, Young A, Mullikin JC, Gnanakaran S, …
Media Availability
The Cancer Genome Atlas identified molecular subtypes to help clinicians determine which tumors are more aggressive and which will respond to treatment.
… characteristics of the cancer. The researchers, led by Thomas Giordano, M.D., Ph.D., University of Michigan, Ann …
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
… myopathy in a large family Board No. PB1743 Thomas Cassini Convention Center, South Exhibit Hall 3:00 … for rare candidate variant analysis Board No. PB2541 Barbara Pusey Convention Center, South Exhibit Hall 3:00 p.m. …
The Genomics Landscape
In the June 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D. details the upcoming appointment of acting NHGRI Deputy Director, Vence Bonham Jr., J.D. and what it means for the institute.
… in 1780 by John Adams, James Bowdoin, Benjamin Franklin, Thomas Jefferson, and George Washington, and has included Alexander Graham Bell, Margaret Mead, Jonas Salk, Barbara McClintock, John F. Kennedy, Martin Luther King, Jr., …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… University of California, San Francisco Pui Kwok, Barbara Koenig, Mary Norton, Anne Slavotinek Genomic … University of California, San Francisco Gloria Peterson, Barbara Koenig, and Susan Wolf Disclosing genomic incidental …
News Release
Celebrating 30 years of genomics that has transformed our understanding of life and improved health.
… including Dr. Francis Collins. … In 1986, geneticist Thomas Roderick, Ph.D., sat with about 10 colleagues in a bar …
News Release
NHGRI hosted two Pathway to Independance awardees and supported 18 additional investigators at institutions nationwide.
… of Reported Disease Variants in Asymptomatic Individuals Barbara Elizabeth Engelhardt, Ph.D., Duke University, Durham, …