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Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… variants across Mendelian disease genes HG011989 Gary Hon William Kraus Nikhil Munshi University of Texas Southwestern … variation on cellular states HG011952 Andrew S. Allen William Majoros Charles D. Page Jr. Duke University Design, …
Staff
Dr. Bailey-Wilson is a scientist emeritus in NHGRI's Division of Intramural Research.
… TM, Tammela T, Sood R, Balshem AM, Scarborough SD, Xu J, William B. Isaacs WB, Trent JM, Kallioniemi O-P, …
Staff
Heather Colley is a Lead Research Training and Career Development Program Officer at the National Human Genome Research Institute.
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… disorders like dementia with Lewy bodies," she said. William A. Gahl, M.D., Ph.D., NHGRI clinical director and …
The Genomics Landscape
In the July 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., emphasizes the importance of the Technology Transfer Office and its mission to manage all the legal negotiations that help to protect federally funded research from being unduly exploited, while also giving that research avenues to reach patients through the commercialization of promising advances.
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.
… Undiagnosed Diseases Program (UDP) was conceived by Dr. William Gahl (NHGRI's Clinical Director); Dr. John Gallin … the aim of diagnosing their rare ailments. NHGRI's Dr. William Gahl and his team continue to run the NIH UDP as one …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… M.D. Skeletal dysplasias, inborn errors of metabolism William A. Gahl, M.D., Ph.D. Inborn Errors of Metabolism, …
Staff
Dr. Chris Gunter is a senior advisor to the NHGRI director on genomics engagement.
… CL, Feingold EA, Felsenfeld AL, Kaufman DJ, Ostrander EA, Pavan WJ, Phillippy AM, Wise AL, Gupta Dayal J, Kish BJ, …
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
File
… Program Coordinator (representing trainees) • Dr. Bill Pavan, Chief, Genetics Diseases Research Branch; Senior …