David Matthew Altshuler

Biosketch

David Altshuler, M.D., Ph.D., is Executive Vice President and Chief Scientific Officer at Vertex Pharmaceuticals. He leads internal research, external innovation, data strategy, technology and AI.

Since joining Vertex in 2015, Dr. Altshuler has overseen the discovery, development, and launch of 6 medicines including TRIKAFTA®/KAFTRIO® the first triple therapy for cystic fibrosis, CASGEVY™ the first CRISPR medicine for sickle cell disease and beta thalassemia, and JOURNAVX™ the first novel non-opioid pain medicine in 25 years. From 2012-2104 he was a member of Vertex’s board of directors.

Prior to Vertex, he was a Founding Core Member, Deputy Director, and Chief Academic Officer at Broad Institute of Harvard and MIT. He was a professor at Harvard Medical School and MIT, and a physician at Massachusetts General Hospital (MGH). He led major projects on human genetic variation and pioneered genetic analysis methods for common diseases. His lab discovered genetic variants linked to type 2 diabetes, cardiovascular disease, autoimmune diseases, and cancer.

Dr. Altshuler chairs the Scientific Advisory Board of the Wellcome Sanger Institute and the MGH Research Institute Advisory Council. He serves on several other advisory boards and committees and is a Fellow of the American Academy of Arts and Sciences. He has received numerous awards, including the Curt Stern Award and the Obama White House named him a Champion of Change for his leadership in genomics. He holds a bachelor’s degree from MIT and an M.D. and Ph.D. from Harvard Medical School. He completed his clinical training at MGH.

Research Interests

Dr. Altshuler’s research interests span human population genetics, genetics of complex, common human diseases, and how insights into causal human disease biology can improve success discovering and developing novel therapeutics.

His academic focus has been the characterization, cataloguing and public access to human genetic variation, leading the SNP Consortium, the HapMap and 1000 Genomes Projects; developing laboratory and statistical methods for genetic dissection of complex traits; identifying genetic contributors to T2D as well as cardiovascular disease, autoimmune disease, and cancer; and modeling genetic architecture of different diseases based on empirical genomic and population data.

As human genetics advanced his interest became causal human biology to discover and develop novel therapies with higher success treating underlying cause of severe diseases with unmet need. In 2015 as CSO at Vertex Pharmaceuticals he led a new research strategy based on insights from human genetics and novel therapeutic
modalities spanning small molecules, gene editing, stem cell derived cell therapy, and protein therapeutics. Vertex has since discovered and launched the first triple therapies for cystic fibrosis, the first CRISPR medicine for hemoglobinopathies, the first Nav1.8 inhibition as a non-opioid acute pain treatment, and late-stage development candidates for APOL1 mediated kidney disease, T1D, and IgA nephropathy.

He has long been interested in novel approaches to organize team-based innovative science with practical benefits both in academia and industry.