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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. … The Undiagnosed Diseases …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… business side of science. … Before becoming a scientist, William Pavan, Ph.D. , worked in construction and on a dairy … This interview was edited and condensed for clarity. … 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 … NIH researchers …
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 … A new study offers insights …
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.
The Genomics Landscape
In the June 2020 edition of The Genomics Landscape, NHGRI Director Eric Green details NHGRI's new Diversity in Genomics Workforce Initiative.
… and accelerate translational research.   …  Bill Gahl, Senior Investigator in NHGRI’s Medical Genetics Branch … disease, Sequence Read Archive (SRA), PhenX Toolkit, Bill Gahl … In the June 2020 edition of The Genomics Landscape, …
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 … …
Diversity Center
The University of Texas Rio Grande Valley (UTRGV) has established a Diversity Center for Genome Research that will build UTRGV’s genomics research capacity by 1) expanding genomic research capabilities and discoveries in two innovative research projects; and 2) enhancing the size and quality of the available genomics workforce.
Clinical Research
El Programa de Enfermedades no Diagnosticadas (UDP) proporcionar respuestas a los pacientes con afecciones misteriosas que han eludido el diagnóstico durante mucho tiempo.
… (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 …