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David Altshuler '86

Decoding genetic risk factors for disease
February 24, 2009

David Altshuler loves his job–the daunting task of discovering genetic risk factors for common human diseases. “Every day I pop out of bed, excited to go to work,” says Altshuler, a professor of genetics and medicine at Harvard Medical School and Massachusetts General Hospital.

Altshuler has worked as a lead investigator in major public-private partnerships that have built on the Human Genome Project to create public databases of variations in the human genome sequence. Such databases serve as a basis for disease research. He is a founding member of the Broad Institute of MIT and Harvard, directing its program in medical and population genetics and leading an international effort to discover genes implicated in type 2 diabetes and other diseases.

These projects bring together large teams of doctors, geneticists, technology experts, and computational scientists. “The Broad Institute was created because we saw that the team model is very effective in tackling audaciously complex scientific and medical problems,” says Altshuler. “Through international teamwork, the field of disease genetics has moved forward very quickly.” For example, in 2006, only 20 genes linked to common diseases had been discovered. By late 2008, more than 250 such genes had been found. Altshuler and his collaborators have identified genes involved in type 2 diabetes, high cholesterol, autism, lupus, and rheumatoid arthritis.

“In the next five to ten years, we hope to define the genetic basis of type 2 diabetes and then find out how these genes work,” says Altshuler. With enough genes identified to offer that information, “we’ll be able to take a rational approach to risk prediction and treatment.”

Altshuler has long been associated with MIT. In fact, he attended nursery school on campus in the 1960s, because his father, Alan Altshuler, taught political science and urban planning from 1966 to 1983. Years later, as an undergraduate student majoring in biology, he had decisions to make. “I struggled to decide whether to go into research or clinical medical practice as an MD,” he says. “Everything came together when I realized I could combine my interests by studying the genetic basis of disease in patients.” Altshuler earned a PhD in 1993 from Harvard University and his MD in 1994 from Harvard Medical School, and he trained in medicine and endocrinology at MGH.

Altshuler lives in Brookline with his wife, Jill, a management consultant, and their two children–ten-year-old Zachary and eight-year-old Jason. “One of my best experiences has been coaching Little League,” Altshuler says. “I enjoy being part of my sons’ teams.”

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