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Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… science from the University of Massachusetts, Amherst, and his Ph.D. in physiology from the Johns Hopkins School of Medicine, … in the future. … Zhang T, Choi J, Kovacs MA, Shi J, Xu M; NISC Comparative Sequencing Program; Melanoma …
Staff
Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch.
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… Dr. Liu received his medical degree and residency training in internal medicine in Beijing, China. He then earned his Ph.D. in human genetics from the University of Texas M.D. Anderson Cancer Center in Houston. He received his …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… from the Massachusetts Institute of Technology in 1972 and his M.D. from the University of Wisconsin in 1976. He obtained a …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… from the Massachusetts Institute of Technology in 1988 and was an M.D., Ph.D. scholarship recipient at Penn State University. …
Staff
Dr. Brian Brooks is an adjunct investigator in NHGRI's Center for Precision Health Research.
… for decades, less is known about the genetic and developmental processes responsible for this condition, … and cell-adhesion molecules. … Chang L, Blain D, Bertuzzi S, Brooks BP. Uveal coloboma: clinical and basic … Kjellstron S, Smith RS, Crawford MA, Lamoreux L, Huizing M, Hess R, Jiao X, Hejtmancik FJ, Maminishkis A, John SWM, …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… Sheena Faherty, Ph.D. … As an eager medical student in his first pediatrics … suffering from glutaric aciduria type I - at the time, and still to date, a rare genetic disease with no known cure. … a cure for glutaric aciduria type I. "The patients I'm seeing in the clinic are teetering between well and unwell, …
NHGRI Director
A list of videos featuring NHGRI Director Eric Green, M.D., Ph.D.
… select list of videos featuring NHGRI Director Eric Green, M.D., Ph.D., including interviews, speeches, awards, and other events. … 64 Questions with Dr. Eric Green on his …
The Genomics Landscape
In the January 2019 edition of The Genomics Landscape, NHGRI Director Dr. Eric Green honors NIAMS Director, Stephen Katz, M.D., Ph.D.
… Eric Green, M.D., Ph.D. … Welcome to the New Year! It already looks like 2019 will be another active year for NHGRI and genomics. Later this month, NHGRI is hosting our first …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… number of possible therapeutic targets for this disease and potentially identify a greater number of patients with … possible," said NIH Director Francis S. Collins, M.D., Ph.D. "We hope this lays the groundwork for future work …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… patients with rare inborn errors of metabolism (IEMs), and can help prevent serious and life-threatening … in the first decade of life," said Charles Venditti, M.D., Ph.D., senior investigator and head of the Organic Acid …