Robert J. Desnick

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, ERT for Niemann–Pick disease type B, and the RNA Interference Therapy for the Acute Hepatic Porphyrias.

He was the co-founder of Amicus Therapeutics, a biopharmaceutical company developing pharmacologic chaperone therapies (Galafold approved 2018), and served as the Chairman of the Scientific Advisory Committees (SAC) of Synageva BioPharma 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.

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 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. He was elected to the National Academies of Sciences, Engineering and Medicine in 2004.

Part of his genetics laboratory at Mount Sinai was spun out into Sema4 (NASDAQ: SMFR), which IPO’d in 2021 for $3 billion. Provided by Wikipedia