Dr. Altshuler completed clinical training in Internal Medicine and Endocrinology at MGH, and research training in the laboratories of Richard Mulligan (then at Whitehead/MIT), Connie Cepko (Harvard), and Eric Lander (Whitehead/MIT Center for Genome Research). Currently, Dr. Altshuler is a member of the Diabetes Unit and Department of Molecular Biology at MGH, and the Director of the Program in Medical and Population Genetics at the Whitehead Institute/MIT Center for Genome Research.
Dr. Altshuler, a human geneticist and clinical endocrinologist, is a leading investigator in the search for the genetic causes of diabetes. His work builds on developments in the human genome project, and he has played a leadership role in The SNP Consortium, a public-private partnership which has created a genome-wide map of human genetic diversity. This study of population variation offers the possibility of linking common genetic variations to susceptibility to disease, and promises new understanding of and ultimately treatments for many diseases. Dr. Altshuler's particular focus is the genetic basis of type 2 diabetes and its complications, and he has recently demonstrated the first robust, reproducible association of a common genetic variation to type 2 diabetes. Interestingly, this variation is within the PPAR-gamma gene, which is a target of the anti-diabetic thiazolidinedione (TZD) drugs. Currently, Dr. Altshuler and Dr. Nathan are planning a clinical research initiative that will search for genes that influence response of patients to oral hypoglycemic medication, offering the hope of more specific treatments with greater effectiveness and fewer side-effects.
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