Edward H Schuchman, PhD
img_Edward H Schuchman
PROFESSOR | Genetics and Genomic Sciences
Research Topics
Angiogenesis, Apoptosis/Cell Death, Blood-Brain Barrier, Bone Metabolism, Brain, Cancer, Cardiovascular, Cartilage Biology, Cellular Differentiation, Chemokines, Chemotaxis, Cytokines, Endothelial Cells, Enzymology, Fibrosis, Gene Regulation, Gene Therapy, Genetics, Genomics, Human Genetics and Genetic Disorders, Inflammation, Lipid Signaling, Lysosomal Storage Diseases, Lysosomes/endosome, Macrophage, Mental Retardation, Metastasis, Neuro-degeneration/protection, Protein Trafficking & Sorting, Reproductive Biology, Signal Transduction, Stem Cells, Tumorigenesis
Multi-Disciplinary Training Area
Cancer Biology [CAB], Genetics and Genomic Sciences [GGS], Immunology [IMM]
Specific Clinical/Research Interest:
The biology and treatment of lysosomal storage disorders; the role of lipid hydrolases in cell signaling

Postdoctoral Fellows: Radoslav Savic, Michael Frobergh

Research Personnel:
Research Faculty: Xingxuan He,  Research Assistant: Yi Ge, Fanli Meng, Changzhi Zhu

Summary of Research Studies:

Our laboratory studies the biology of lysosomal enzymes, genes and diseases.  Two of the main projects in the lab are focused on the enzymes acid sphingomyelinase (deficient in Types A & B Niemann-Pick disease) and acid ceramidase (deficient in Farber Lipogranulomatosis or Farber disease).  We integrate the tools of molecular biology, biochemistry, pharmacology and other disciplines to understand the pathogenic mechanisms causing these disorders and to develop new therapies.  Our lab is responsible for the gene cloning of both enzymes, identification of the first mutations causing the human diseases, production and characterization of both human recombinant enzymes, and the construction of the first animal models for the human diseases.  This work has led to the first enzyme replacement therapy clinical trials for Niemann-Pick disease (collaboration with the Genzyme/Sanofi), institution of the first genetic screening program for this disorder throughout the world, and the formation of a new company (Plexcera Therapeutics) to develop enzyme therapy for Farber disease. We continue to work closely on the role of acid sphingomyelinase and acid ceramidase in lipid-mediated cell signaling and to understand how these enzyme and genes are involved in various other disease pathologies, including common disorders such as type II diabetes and monogenic disorders such as cystic fibrosis.   We also collaborate on the development of new therapies for another group of lysosomal storage disorders, the mucopolysaccharidoses.  

BS, State University of New York at Stony Brook

PhD, Mount Sinai School of Medicine

Postodoctoral, Yale University School of Medicine


Inventor of the Year

New York Intellectual Property Law Association


Named Postdoctoral Fellowship

National Niemann-Pick Disease Foundation


Dean's Award for Translational Research

Ichan School of Medicine at Mount Sinai


Francis Crick Chair in Genetics and Genomic Sciences

Genetic Disease Foundation


Faculty Council Award for Academic Excellence

Ichan School of Medicine at Mount Sinai

Faculty Spotlight: Edward Schuchman, PhD

Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device and biotechnology companies to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their relationships with such companies.

Below are financial relationships with industry reported by Dr. Schuchman during 2022 and/or 2023. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.


  • Genzyme Corporation
  • Aceragen

Equity (Stock or stock options valued at greater than 5% ownership of a publicly traded company or equity of any value in a privately held company)

  • Aceragen

Royalty Payments:

  • Paradigm and Reqmed
  • Genzyme Corporation
  • Paradigm and Reqmed
  • Aceragen
  • Luminex Corporation

Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.