Search Results
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 …
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 …
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 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.
…  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. …
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 …
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
NHGRI commemorates the life and legacy of genomics champion Representative Louise M. Slaughter (D-N.Y.), who passed away in March 2018, by naming an annual National DNA Day lecture at the National Institutes of Health (NIH) in her honor.
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 …
Staff
Dr. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC).
… Comparative Sequencing Program; Sergeev YV, Oetting WS, Pavan WJ, Adams DR. Haplotype-based analysis resolves missing …