Search Results
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 … M, Shrader J, Slota C, Joe G, McKew JC, Fitzgerald M, Gahl WA, Berry S, Carrillo N. Bayesian model of disease …
Staff
Dr. Toro is a senior clinician in NHGRI's Office of the Clinical Director and co-director of the NIH Undiagnosed Diseases Program.
… Toro C , Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, et al; C4RCD Research Group. A recurrent de novo … Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C . Whole-exome sequencing identifies … M, Gavrilova R, Alturkustani M, Sharma M, Hammond R, Gahl WA, Toro C , Brusco A, et al. Genomic deletions upstream …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… 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 … especially in those on long-term hemodialysis," Dr. Gahl said. In Gaucher's disease, the small molecule NCGC607 …
News Release
UDN members have published a how-to guide for diagnosing medical mysteries for medical centers nationwide outline the framework for how this can be successful.
… Network at the NIH Common Fund [commonfund.nih.gov] Willam Gahl, M.D., Ph.D., Head, Undiagnosed Diseases Network …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
… SM, Rosenzweig SD, Barbot J, Ciccone C, Huizing M, Toro C, Gahl WA, Introne WJ , Malicdan MCV. The spectrum of LYST … Parikh S, Ozbek NY, Malbora B, Ciccone C, Gunay-Aygun M, Gahl WA, Introne WJ , Malicdan MCV. cDNA sequencing increases … Cipriano A, Leuschner P, Krzewski K, Stephen J, Dorward H, Gahl WA, Gochuico BR, Toro C, Malicdan MC, Introne WJ . …
Staff
Dr. Ferreira was a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… F, Dikoglu E, Chen MY, Mughal Z, Levine MA, Gafni RI, Gahl WA. Prospective phenotyping of long-term survivors of … . Genetics in Medicine . 2021;23(2):396-407. Ziegler S, Gahl WA, Ferreira CR . Generalized Arterial Calcification of … L, Gafni TI, Wolf M, Jüppner H, Gales B, Markovich D, Gahl WA, Salusky IB, Collins MT. Nephropathic cystinosis: a …
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: … Principles of Internal Medicine 21e . McGraw Hill; 2022. Gahl, WA, Adams, D.R.; Markello, T.C.; Toro, C.; Tifft, C.J. …
The Genomics Landscape
In the May 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recaps activities from National DNA Day 2019.
… featured in The Genomics Landscape earlier this year, Dr. Bill Gahl recently stepped down as NHGRI’s Clinical Director. I am …
Event
NHGRI commemorates the life and legacy of genomics champion Representative Louise M. Slaughter (D-N.Y.), who passed away in March 2018, by naming an annual National DNA Day lecture at the National Institutes of Health (NIH) in her honor.
Event
On Tuesday, February 6, 2024, the National Human Genome Research Institute hosted an eConsult webinar to provide an overview of three notice of funding opportunities (RFA-HG-24-001, PAR-24-106 and PAR-24-107). Questions were answered during the webinar.
… affiliated with their healthcare system.  Can services bill providers, patients, or insurance? This will likely …