Robert J. Desnick | |
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Born | |
Nationality | American |
Alma mater | University of Minnesota Medical School |
Known for | translational research in genetics and genomics; research on inherited metabolic diseases |
Awards | E. Mead Johnson Award (1981) |
Scientific career | |
Fields | human genetics and genomics |
Institutions | Mount Sinai Hospital |
Robert J. Desnick is an American human geneticist whose basic and translational research accomplishments include significant discoveries in genomics, pharmacogenetics, gene therapy, personalized medicine, and the treatment of genetic diseases. His translational research has led to the development of the enzyme replacement therapy (ERT) and the chaperone therapy for Fabry disease,[1][2] ERT for Niemann–Pick disease type B, and the RNA Interference Therapy for the Acute Hepatic Porphyrias.[3]
He was the co-founder of Amicus Therapeutics, a biopharmaceutical company developing pharmacologic chaperone therapies (Galafold approved 2018[4]), and served as the Chairman of the Scientific Advisory Committees (SAC) of Synageva BioPharma [5] and Kiniksa Pharmaceuticals. The enzyme therapy developed in his laboratory and licensed to Genzyme as Fabrazyme, along with Cerazyme for Gaucher disease, helped build the rare disease company Genzyme, which has spawned more CEOs than any other company in history following its 2011 sale to Sanofi for $20.1 billion.[6]
Desnick is the Dean for Genetics and Genomic Medicine, and Professor and Chairman Emeritus of the Department of Genetics & Genomic Sciences at The Icahn School of Medicine at Mount Sinai in New York City. Additionally, he is Professor of Pediatrics, Professor of Oncological Sciences, and Professor of Obstetrics, Gynecology and Reproductive Science at The Mount Sinai Hospital.
Desnick is the author of more than 590 peer-reviewed articles in scientific journals, 250 book chapters and is the editor of 10 books. He holds 26 US issued and licensed patents[7] and is included in Castle Connelly's lists of Best Doctors in America and Best Doctors in New York and New York Magazine’s list of the Best Doctors every year since the inception of the rating.[8][9] He was elected to the National Academies of Sciences, Engineering and Medicine in 2004.[10]
Part of his genetics laboratory at Mount Sinai was spun out into Sema4 (NASDAQ: SMFR), which IPO’d in 2021 for $3 billion.
Desnick received his undergraduate degree from the University of Minnesota in 1965. He earned a Ph.D. in genetics from the University of Minnesota Graduate School in 1970 and his M.D. from the University of Minnesota Medical School in 1971. He completed an internship and a residency in pediatrics at the University of Minnesota Hospitals and joined the faculty at the University of Minnesota, where he rose to the rank of associate professor of Cell Biology and Genetics and Pediatrics.
Desnick joined the staff at Mount Sinai Medical Center in 1977, as the Arthur J. and Nellie Z. Cohen Professor of Pediatrics and Genetics and Chief of the Division of Medical and Molecular Genetics. He was the first chairman of the newly created Department of Human Genetics in 1993, which was renamed the Department of Genetics & Genomic Sciences in 2006. In 2009, he became Dean for Genetics & Genomic Medicine and Interim Director of the newly established Genomics Institute at Mount Sinai. He is currently Professor of Pediatrics, Oncological Sciences, Obstetrics, Gynecology and Reproductive Science, Gene and Cell Medicine and Professor and Chairman Emeritus of Genetics & Genomic Sciences.[11]
Desnick is an elected member of the Society for Pediatric Research, the American Pediatric Society, the American Society for Clinical Investigation, and the Association of American Physicians. He is an elected Fellow of the American Association for the Advancement of Science, and an elected member of the National Academy of Medicine of the National Academy of Sciences.[12] His research awards include the E. H. Ahrens, Jr. Award for Research from the Association for Patient-Oriented Research and the Award for Excellence in Clinical Research from the National Center for Research Resources from the National Institutes of Health. He received the Outstanding Achievement Award from the University of Minnesota.
Desnick is a past director of the American Board of Medical Genetics, a Founding Diplomat of the American College of Medical Genetics, a past member of the board of directors of the American College of Medical Genetics Foundation, and a founder and past president of the Association of Professors of Human and Medical Genetics.[13][14] He is past chair of the Association of American Medical Colleges (AAMC), past member of the AAMC Board of Directors and past chair of the AAMC Council of Academic Societies. He is currently the President of the American Porphyrias Expert Collaborative.
He lives in New York City and Palm Beach with his wife, Julie Herzig Desnick, and son, Jonathan Desnick. Julie is an Abstract Expressionist painter and a LEED-certified, Registered Architect.
He is a Trustee of the American School of Classical Studies in Athens.[15]
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