David Altshuler’s laboratory aims to characterize and catalogue patterns of human genetic variation, and by applying this information improve understanding of the inherited contribution to common human diseases.

Dr. Altshuler has been a leader in the SNP Consortium and International HapMap Consortium, public-private partnerships that have created genome-wide maps of human genetic diversity. In long-term collaboration with clinical investigators, Dr. Altshuler’s group has developed laboratory and statistica methods for defining causal relationships between sequence variation and human disease. They have identified common genetic variants contributing to type 2 diabetes, prostate cancer, systemic lupus erythematosus, and other diseases.

Dr. Altshuler is a Distinguished Clinical Scholar of the Doris Duke Charitable Foundation, 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. He has received the Richard and Susan Smith Pinnacle Award of the American Diabetes Association, and the “Freedom to Discovery” Award from the Foundation of Bristol Myers Squibb. 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, on the Editorial Board of Annual Reviews of Human Genetics and Genomics, and the Board of Reviewing Editors at Science.

Professor Altshuler is one of four Founding Members and Director of the Program in Medical and Population Genetics of The Broad Institute of Harvard and MIT, a unique research collaboration of Harvard, MIT, The Whitehead Institute, and the Harvard Hospitals.