David Altshuler, M.D., Ph.D.

David Altshuler’s laboratory studies the inherited basis of common human diseases, combining information and approaches from the human genome project, population genetics, clinical medicine and epidemiology. Research in the group focuses on two intertwined goals: characterizing and cataloging patterns of human genetic variation, and applying this information to isolate the genetic contribution to diseases such as type 2 diabetes and hormone-responsive cancers of the prostate and breast. Altshuler has been a leader in the SNP Consortium and the International Haplotype Map Consortium , two public-private partnerships that have created a genome-wide map of human genetic diversity. Additionally, in long-term collaboration with clinical and genetic investigators, his group has shown the first reproducible association of a common genetic variation with type 2 diabetes (PPARG P12A), and also performed large-scale association studies in over 7,000 patients to resolve true association and those that cannot be reproduced.

Dr. Altshuler is a Clinical Scholar in Translational Research of the Burroughs Wellcome Fund, a Charles E. Culpeper Medical Scholar of the Rockefeller Brother’s Fund, and winner of the Stephen Krane Award of the Massachusetts General Hospital. Together with four collaborating investigators, he recently received the Richard and Susan Smith Pinnacle Award of the American Diabetes Association. He is a member of Advisory Boards at The National Institutes of Health, The Doris Duke Charitable Foundation, The Juvenile Diabetes Research Foundation, The Wellcome Trust and Merck Research Laboratories. He joined the faculty of Harvard Medical School in 2000, and was promoted to Professor of Genetics and Medicine in 2008. In 2003 Altshuler was named one of four Founding Members (along with Eric Lander, Stuart Schrieber and Todd Golub) and Director of the Program in Medical and Population Genetics of The Broad Institute of Harvard and MIT, a research collaboration of Harvard, MIT, The Whitehead Institute, and the Harvard Hospitals.