May 24, 2002

MGH geneticist and endocrinologist David Altshuler, MD, (left) received three prestigious awards this month in recognition for his work in applying genomics to complex diseases such as diabetes. Altshuler was named a Charles E. Culpeper Scholar, a Burroughs Welcome Fund Clinical Scholar in Translational Research and received the MGH's Stephen Krane Award as the best young investigator in the Department of Medicine.The Culpeper Scholarship and the Burroughs Welcome awards are given to support the career development of academic physicians in the United States.

Altshuler has spearheaded efforts to create a much-needed companion volume to the human genome sequence. The SNP (single nucleotide polymorphism) map is a publicly available catalog of common gene sequence variations mapped to their exact location in the human genome. Altshuler played a leadership role in a collaboration among five major centers called the International SNP Map Working Group and was the senior author on the resulting SNP map published in Nature as a companion to the human genome sequence.

With more than 2 million SNPs, the map has the potential to revolutionize both treating diseases and tracing human history. Already, this map is accelerating discovery of disease genes and providing a "fossil record" of human population history.

Altshuler is a member of the MGH Department of Molecular Biology and Diabetes Unit in the Department of Medicine and also is the director of the Medical and Population Genetics Program at the Whitehead/MIT Center for Genome Research.