David Altshuler, Ph.D.

The goal of Dr. Altshuler's research is to make possible the discovery of novel pathophysiological processes in diabetes, cancer and other common diseases through studies of inherited genome sequence variation. His approach has been to characterize and catalogue patterns of human genetic variation (through leadership in The SNP Consortium, HapMap and 1000 Genomes Projects), to develop laboratory and analytical methods to study sequence variation genome-wide (single nucleotide and structural variants, both common and rare), and to apply these methods to dissect the genetic contribution of type 2 diabetes, cancer and other diseases.  Dr. Altshuler's expertise in the analysis of DNA sequencing data, management of high throughput genomic projects (with NHGRI), and the genetics of type 2 diabetes and cancer motivates his involvement in the Joslin DRC.