The Francis Crick Professor and Vice Chairman of Research, Department Of Genetics and Genomic Sciences; Professor, Department Of Gene And Cell Medicine, Mount Sinai School Of Medicine, New York City.

Dr. Schuchman received his Ph.D. in Human Genetics from the Mount Sinai School of Medicine in 1983, and after completing a postdoctoral fellowship at Yale University, returned to Mount Sinai and has been a faculty member since 1986.

His laboratory has been studying the biology of lysosomal enzymes, genes and diseases for more than 25 years, achieving a number of breakthroughs towards the development of novel therapies for lysosomal disorders. For example, Dr. Schuchman’s team was the first to isolate genes encoding lysosomal enzymes linked to Types A and B Niemann-Pick, Mucopolysaccharidosis Type VI, and Farber disease.

His research related to Niemann-Pick disease led to the first genetic screening program; the completion of several enzyme replacement, stem cell and gene therapy studies in the mouse model; and collaborations with Genzyme Corporation, in which clinical trials of enzyme replacement therapy for Type B Niemann-Pick disease are now underway. In 2003 he was recipient of the Mount Sinai School of Medicine’s Award for Academic Excellence, and in 2008 the Dean’s award for Translational Science.

Dr. Schuchman has published over 150 peer-reviewed research articles on lysosomal enzymes and storage diseases. A reviewer for leading scientific journals, he has served on and chaired numerous NIH grant review committees, and is a member of several scientific advisory boards.

In 2003, Dr. Schuchman received the Francis Crick Professorship of Human Genetics, supported in part by an endowment from the GDF. This Chair was established at Mount Sinai in honor of Dr. Francis Crick, who received the Nobel Prize for his work on the structure of DNA. Dr. Schuchman is the first recipient of this honorary endowed Chair.

More about Dr. Schuchman at the Mount Sinai Medical Center website.