Dr. Edward H. Schuchman

About the author

Dr. Edward H. Schuchman is the Genetic Disease Foundation-Francis Crick Professor of Genetics & Genomic Sciences at the Icahn School of Medicine at Mount Sinai. His research career has spanned over 30 years and is focused on the understanding the pathophysiology of lysosomal storage disorders and developing new treatments. Among his accomplishments, Dr. Schuchman’s laboratory was the first to isolate the gene encoding acid sphingomyelinase (ASM), the enzyme deficient in Types A and B Niemann-Pick disease, leading to the identification of the first mutations causing the disease, the first genotype/phenotype correlations and gene-based screening for the disorder, construction of the first mouse model and production of the first recombinant ASM, and development of the first enzyme replacement therapy for this disorder.

His laboratory also was the first to isolate the gene encoding acid ceramidase, the enzyme deficient in Farber disease, and he co-founded a company in 2013 to develop acid ceramidase-based therapies for this and other genetic diseases. This company was sold to a NY-based pharmaceutical company in 2016 for further clinical development. Among his other interests are the mucopolysaccharidoses (MPS), leading to the identification and evaluation of a repurposed drug for these disorders (pentosan polysulfate, PPS). PPS has successfully completed phase 1/2 clinical trials in MPS I and MPS II patients and is currently undergoing further clinical testing. Dr. Schuchman has been continuously funded by the NIH and other organizations for his work and is currently the recipient of a prestigious NIH MERIT award.

He has published over 250 peer-reviewed scientific articles and has authored over 50 book chapters. Over the years Dr. Schuchman has received numerous awards for his research, including the NY Intellectual Property Inventor of the Year (2013), Inventor of the Year at Mount Sinai (2019), and Election as a Distinguished Fellow to the National Academy of Inventors (2020). He serves on the Scientific Advisory Board for numerous organizations, including the Wylder Nation Foundation and National Niemann-Pick Disease Foundation (NNPDF), where a research fellowship is offered in his name.

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