Robert J. Desnick

Dr. Robert J. Desnick is Dean for Genetics and Genomic Medicine and Professor and Chairman Emeritus of the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai. In 1977, he joined the Mount Sinai faculty as the Arthur J. and Nellie Z. Cohen Professor of Pediatrics and Genetics. In 1993, he became the first Chairman of the Department of Genetics and Genomic Sciences at Mount Sinai, and in 2011, he was appointed Dean for Genetics and Genomic Medicine. His research interests include inherited metabolic diseases and their treatment. His basic laboratory research efforts led to FDA- & EMA-approval of enzyme replacement therapy (ERT) for Fabry disease (Fabrazyme) and on-going ERT clinical trials for Niemann-Pick B disease with Sanofi-Genzyme. He was co-scientific founder of Amicus Therapeutics, which develops oral pharmacologic chaperone therapies for various diseases including Fabry disease (EMA- & FDA-approved). He was Principal Investigator for Clinuvel Pharmaceuticals’ multisite clinical trials of afamelanotide, a “first-in-class” synthetic peptide of α-melanocyte stimulating hormone for the treatment of the Erythropoietic Porphyrias (EMA- & FDA-approved). He is a co-inventor of RNAi therapy for the Acute Hepatic Porphyrias (NDA pending) and is currently using gene editing/gene therapy for the treatment of inherited diseases. He served as the Chairman of the Scientific Advisory Committee (SAC) of Synageva Biopharma and as SAC Chair for Kiniksa Pharmaceuticals. He has published over 790 research papers and chapters, including ten edited books. He is a Fellow of the American Association for the Advancement of Science and an elected member of the National Academy of Medicine.