David Altshuler, M.D., Ph.D., is Executive Vice President and Chief Scientific Officer at Vertex Pharmaceuticals. In this role, Dr. Altshuler leads internal research and external innovation, corporate data strategy, technology and data sciences, and serves as executive sponsor for Vertex University.  

Dr. Altshuler joined Vertex as Chief Scientific Officer in 2015. Since that time Vertex discovered, developed and launched TRIKAFTA®/KAFTRIO®, the first triple therapy for people with cystic fibrosis; CASGEVY™, the first approved medicine using CRISPR/Cas9 gene editing for the treatment of sickle cell disease and transfusion-dependent beta thalassemia; and JOURNAVXTM, the first and only approved non-opioid oral pain signal inhibitor and the first new class of pain medicine approved in more than 20 years. He developed and implemented Vertex’s research strategy and pipeline of Sandbox diseases, and advanced to clinical trials candidate medicines for cystic fibrosis, sickle cell disease, beta thalassemia, pain, APOL1-mediated kidney disease, type 1 diabetes, alpha-1 antitrypsin deficiency and myotonic dystrophy type 1. Before joining Vertex as Chief Scientific Officer, he was a member of the company’s board of directors from 2012 to 2014. 

Prior to Vertex, Dr. Altshuler was a Founding Core Member, Deputy Director and Chief Academic Officer at the Broad Institute of Harvard and the Massachusetts Institute of Technology (MIT). He was Professor of Genetics and Medicine at Harvard Medical School, Adjunct Professor of Biology at MIT and a physician at the Massachusetts General Hospital (MGH). He helped to lead three major projects that characterized and cataloged human genetic variation — the SNP Consortium, HapMap and 1,000 Genome Projects — and pioneered methods and practice of genetic analysis of common human diseases. His lab led the discovery of hundreds of genetic variants associated with risk of type 2 diabetes, cardiovascular disease, autoimmune diseases and cancer across multiple populations. His lab also developed population genetic models to evaluate the genetic architecture of human complex disease, and to train those models based on empirical data. He continues to teach students as a senior lecturer in genetics and medicine at MGH and Harvard.  

Dr. Altshuler chairs the Scientific Advisory Board of the Wellcome Sanger Institute and the MGH Research Institute Advisory Council. He serves on the Visiting Committee of the MIT Department of Biology, the Scientific Advisory Board of MGH, the Scientific Review Board of the Howard Hughes Medical Institute, and the board of trustees of the Boston Museum of Science. He is a Fellow of the American Academy of Arts and Sciences and an elected member of the National Academy of Sciences, National Academy of Medicine, the Association of American Physicians and the American Society of Clinical Investigation (ASCI). He was the first recipient of the ASCI Bruce F. Scharschmidt & Peggy S. Crawford Translational Medicine Distinguished Lectureship and Award, recognizing his outstanding contributions to developing transformative medicines. His other numerous awards include the Curt Stern Award of the American Society of Human Genetics and the Outstanding Scientific Research Award of the American Diabetes Association. The Obama White House named Dr. Altshuler a Champion of Change for his leadership in creating and leading the Global Alliance for Genomics and Health.  

Dr. Altshuler received his bachelor’s degree in life sciences from MIT and his M.D. and Ph.D. in genetics from Harvard Medical School. He completed his clinical training at MGH in internal medicine and in endocrinology, diabetes and metabolism.