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Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… (1-844-746-4836) … 2020 May 11, 2020: Bill Gahl receives HHS award 2019 September 19, 2019: Undiagnosed … The medical detective Federal News Radio August 17, 2011:  William A. Gahl, NIH medical sleuth, tackles mysterious … CBS WUSA9News Dec. 5, 2010:  Power Player of the Week: Dr. William Gahl FoxNews National Dec. 13, 2010:  Local Team …
Staff
Dr. David Adams is a senior clinician in the Office of the Clinical Director, NHGRI, and co-director of the Undiagnosed Diseases Program at NIH. He serves as deputy director of clinical genomics in both.
… at the NIH in 2004 and stayed on in the lab of Dr. William Gahl to work on rare heritable and metabolic disorders. He … ME, Adams DR, Wasserstein M, Patterson MC, Walkley SU, Gahl WA; FSASD Consortium. Free sialic acid storage disorder: …
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 director of … contribute to the study of common diseases. In 2011, Dr. Gahl and his UDP colleagues identified the genetic difference …
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 (then … the aim of diagnosing their rare ailments. NHGRI's Dr. William Gahl and his team continue to run the NIH UDP as one …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… S, Bayman L, Coffey CS, Quintana M, Berry SM, Huizing M, Gahl WA. Oral N-acetylmannosamine (ManNAc) rescues the basic … M, Xu X, Zhang M, Shi Y, Gu G, Liu W, Class B, Ciccone C, Gahl WA, Huizing M, Carrillo N, Wang AQ. Quantitation of … student in Dr. Nishino's laboratory (Tokyo, Japan). William A. Gahl, M.D., Ph.D. Director, NIH Undiagnosed …
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, cystinosis, …
The Genomics Landscape
In the November 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 25th anniversary of NHGRI's Intramural Research Program.
… from the past month, two NHGRI Intramural investigators, William Gahl and Charles Rotimi, were  elected  into the National …
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 and …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… Clinical Center. Among the featured researchers are Bill Gahl, M.D., Ph.D., David Adams, M.D., Ph.D., and Cyndi Tifft, …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute. ​
… M., Rausche M., Toro J.R., Kaiser-Kupfer M.I., White J.G., Gahl W.A. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews … J Hum Genet , 69:1022-1032. 2001. [ PubMed ] Huizing M., Gahl W.A. Disorders of vesicles of lysosomal lineage: the … Strovel E., Fitzpatrick D.L., Hartnell L.M., Anikster Y., Gahl W.A. Nonsense mutations in ADTB3A cause complete …