Proceedings of the National Academy of Sciences of the United States of America

About the PNAS Member Editor
Name Altshuler, David M.
Location Vertex Pharmaceuticals, Inc.
Primary Field Medical Genetics, Hematology and Oncology
 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.

 
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