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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.
… very encouraged by this preliminary work," said William J. Pavan, Ph.D., senior investigator in the NHGRI Genetic … C1, Niemann-Pick disease, gene therapy, NPC1 gene, William Pavan, Charles Venditti … NIH researchers demonstrated that …
News Release
A new study offers insights into why some people's hair goes gray in response to a serious illness or chronic stress.
… work to control the innate immune system," said William J. Pavan, Ph.D., study co-author and chief of the Genetic … genes and the immune system, genes and gray hair, William Pavan Ph.D., SOX10 gene … A new study offers insights into …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… pigmentation and pigment cell diseases," said William Pavan , Ph.D., co-author of the study and senior investigator … DNA damage, Sarah Tishkoff, melanocytes and genes, William Pavan, Stacie Loftus, DNA variations and skin color … …
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.
… by June 29, 2020. …  On June 26, 2000, President Bill Clinton and British Prime Minister Tony Blair (via … outcomes; and accelerate translational research.   …  Bill Gahl, Senior Investigator in NHGRI’s Medical Genetics … one of the highest honors given by HHS. For decades, Bill has been an untiring champion of genetics and genomics …
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.
… better treatments for these conditions. …  William Pavan, Ph.D. , senior investigator in the Genetic Disease … retired at the end of September. For nearly 30 years, Bill led a research group that aimed to understand genome … type C1. A scientific symposium was held at NHGRI in Bill’s honor at the end of September. … Genomics Research NIH …
Policy Issues
The GINA is an important U.S. civil rights law that protects individuals from discrimination based on their genetic information.
… Rep. Louise Slaughter introduces the first version of the bill in the U.S. House of Representatives. More + 1995 The … a Congresswoman and scientist from New York, introduces a bill called H.R. 2748 , "Genetic Information … Insurance Act. Rep. Slaughter and others supporting the bill realized that as genetic testing was becoming more …
News Release
Principal investigator-mentors guide new scientists to their next chapter.
… Rodriguez-Gil praised his program mentors.  “My mentor, Bill Pavan, suggested I use my time in the post-bac program to …
Partner with NHGRI
NHGRI's technologies, inventions and discoveries are available for licensing.
… 9,983,200 issued on May 29, 2018 Lead Inventor: William J. Pavan, Ph.D. (NHGRI) Office of Technology Transfer Abstract … C DHHS Reference No.: E-004-2011 Lead Inventor: William J. Pavan, Ph.D., (NHGRI) Mouse Model of Diamond-Blackfan Anemia … DHHS Reference No.: E-294-2012 Lead Inventor: William J. Pavan, Ph.D., (NHGRI) Federal Register Description  Other …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… 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 … Gibson AL, Davidson CD, Incao AA, Hubbard BT, Porter FD, Pavan WJ, Venditti CP. Systemic AAV9 gene therapy improves …
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 …