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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 …
Partner with NHGRI
NHGRI's technologies, inventions and discoveries are available for licensing.
… Patent 9,983,200 issued on May 29, 2018 Lead Inventor: William J. Pavan, Ph.D. (NHGRI) Office of Technology Transfer Abstract … Type C DHHS Reference No.: E-004-2011 Lead Inventor: William J. Pavan, Ph.D., (NHGRI) Mouse Model of …
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.
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 … …