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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 …
Strategic Vision
Staff within the institute and colleagues in the genomics community organized and contributed to the >50 events associated with the strategic planning process (e.g., town halls, dedicated workshops, conference sessions, and webinars) and provided critical feedback.
… Felsenfeld NHGRI Dave Kaufman NHGRI Elaine Ostrander NHGRI Bill Pavan NHGRI Adam Phillippy NHGRI Anastasia Wise NHGRI … Name … Sarah Bates NHGRI Vence Bonham NHGRI Lawrence Brody NHGRI Bill Gahl NHGRI Bettie Graham NHGRI Eric Green NHGRI Chris …
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 …
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in February 2020.
… pairs with Gaucher disease discordant for Parkinsonism Pavan - NPC1 deficiency in mice is associated with fetal …
News Release
NHGRI has created a new publicly available digital archive and search aid for accessing documents related to the Human Genome Project and the history of genomics.
… meetings; Dr. Collins’ handwritten notes for President Bill Clinton to announce the completion of the first draft …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… a hard time keeping it together. Too much respect for Bill to put into words #ACMGMtg17  Megan Grove @meganegrove Bill Gahl of @UDNconnect : w/ new genetic conditions, finding … . NGLY1.org @ngly1org Should've brought tissues to Dr. Bill Gahl's inspiring & heartfelt Pruzansky lecture at …
Staff
Dr. David Adams is a senior clinician in the Office of the Clinical Director, NHGRI, and co-director of the Undiagnosed Diseases Program at NIH. He serves as deputy director of clinical genomics in both.
… Comparative Sequencing Program, Jackson IJ, Oetting WS, Pavan WJ, Adams DR. A custom capture sequence approach for …
News Release
NIH researchers searched for how the body signals the lack of oxygen in melanoma skin cancer.
… Fufa, NISC Comparative Sequencing Program and William J. Pavan. Hypoxia-induced HIF1α targets in melanocytes reveal a …
Policy Issues
Payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement.
… tests. This means that there is no straightforward way to bill for many tests or for payers to identify what genetic …
News Release
NHGRI marks its fourteenth annual National DNA Day by organizing a nationwide network of educational events for students, teachers and health professionals.
… in the Genetic Disease Research Branch, William J. Pavan, Ph.D. His discussion is titled "Genes and Animal …