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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 investigator … UVR and DNA damage, Sarah Tishkoff, melanocytes and genes, William Pavan, Stacie Loftus, DNA variations and skin color … …
News Release
NHGRI and other NIH institutes recently participated in the high-energy science communications contest called the Three-minute Talk.
… to increase the public's scientific literacy," said Bill Pavan, Ph.D., Intramural Training Office director and senior … Research Branch); Melissa Harris (Research Fellow, Pavan group, Genetic Disease Research Branch). NHGRI TmT … research will benefit trainees' careers, explained Dr. Pavan. NICHD hosted its first TmT competition last year. The …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… as part of an "Ask Me Anything" (AMA). Our AMA hosts were William Gahl, M.D., Ph.D., NHGRI's clinical director and head … out Reddit Science's page to read the full "AMA!") Drs. William Gahl and Cynthia Tifft answer questions about the … we more often make a diagnosis of a known, rare disease. - William Gahl Having a child with a rare and undiagnosed …
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 … to diagnose them. ​ … Undiagnosed Diseases Network, UDN, William Gahl M.D., difficult medical cases, intractable …
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
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 …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… for gene therapy applications. In collaboration with Dr. William Pavan’s (NHGRI) and Dr. Denny Porter’s (NICHD) labs, he led … H, Jiang X, Chandler RJ, Ory DS, Gradinaru V, Venditti CP, Pavan WJ. Improved systemic AAV gene therapy with a …
The Genomics Landscape
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… to develop better treatments for these conditions. …  William Pavan, Ph.D. , senior investigator in the Genetic Disease … against Parkinson’s disease … NHGRI senior investigator William Pavan retires … Related Resources … In This Issue … …
News Release
NIH researchers searched for how the body signals the lack of oxygen in melanoma skin cancer.
… Temesgen D. Fufa, NISC Comparative Sequencing Program and William J. Pavan. Hypoxia-induced HIF1α targets in melanocytes reveal a …