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News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… center anywhere in the country and in the world," said William A. Gahl, M.D., Ph.D., clinical director at the National Human … Undiagnosed Diseases Network, UDN, William Gahl M.D., difficult medical cases, intractable medical …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… UDN Gateway, UDN application process, UDN clinical sites, William Gahl M.D>, Anastasia Wise Ph.D. …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… Before becoming a scientist, William Pavan, Ph.D. , worked in construction and on a dairy … William Pavan retires after nearly 30 years of discovering …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… "We're very encouraged by this preliminary work," said William J. Pavan, Ph.D., senior investigator in the NHGRI … type C1, Niemann-Pick disease, gene therapy, NPC1 gene, William Pavan, Charles Venditti …
News Release
A new study offers insights into why some people's hair goes gray in response to a serious illness or chronic stress.
… skin also work to control the innate immune system," said William J. Pavan, Ph.D., study co-author and chief of the … gene, genes and the immune system, genes and gray hair, William Pavan Ph.D., SOX10 gene …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… for studying pigmentation and pigment cell diseases," said William Pavan , Ph.D., co-author of the study and senior … UVR and DNA damage, Sarah Tishkoff, melanocytes and genes, William Pavan, Stacie Loftus, DNA variations and skin color …
Investigación ClÃnica
El Programa de Enfermedades No Diagnosticadas de los NIH brinda respuestas a pacientes con afecciones misteriosas que durante mucho tiempo han eludido el diagnóstico.
… Online Version ) Washingtonian 2022 February 8, 2022: Dr. Gahl receives EURORDIS Lifetime Achievement Award Winter … 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 …
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 …