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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 …
Staff
Heather Colley is a program director in the Division of Genomic Medicine at the National Human Genome Research Institute. ​
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. Ebony Madden is the Health Equity and Workforce Diversity Program Director in the Training, Diversity and Health Equity Office at the National Human Genome Research Institute. ​
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, …
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, …
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 …
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… Dan Kastner, M.D., Ph.D. , Scientific Director, NHGRI William Gahl, M.D., Ph.D. , Head, Undiagnosed Disease Program …
News Release
Virtual reality is a rapidly expanding area of tech and gaming and important in medicine and health.
… Institute of Neurological Disorders and Stroke (NINDS); William Kistler, M.A., lab manager of IVETA at NHGRI; and …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… H, Sidhu R, Renvoise B, Ginns IE, Cramer C, Ory DS, Pavan WJ, Sidransky E. A new glucocerebrosidase deficient …