Edward H Schuchman | Mount Sinai

About Me

Notable Scientific Accomplishments:

First Isolation Of Genes Encoding Three Human Lysosomal Enzymes
First Identification Of Mutations In The Respective Lysosomal Storage Diseases,
& Establishment Of The First DNA-Based Screening For These Diseases
Construction / Characterization Of The First Animal Models For These Diseases
Discovery Of The First Disease-Modifying Therapies For These Diseases,
& First “Proof-Of-Concept” Studies In The Animal Models
Translation Of These Findings Into Clinical Practice
- One Drug FDA / EMA Approved (Xenpozyme®)
- One Drug Entering Phase 3 Clinical Trials (Pentosan Polysulfate)
- Two Drugs In Early Stage Clinical Evaluation
First Identification Of A Novel Lipid Signaling Pathway Dependent On
Lysosomal Enzyme Function
- The “Sphingomyelin / Acid Sphingomyelinase” Pathway
First Use Of A Lysosomal Enzyme (Acid Ceramidase) To Treat Diseases
Associated With Abnormalities In This Lipid Signaling Pathway
- Cystic Fibrosis, Cartilage Degeneration, Hepatic Ischemia-Reperfusion Injury

Language

English

Position

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 Areas

Cancer Biology [CAB], Genetics and Genomic Sciences [GGS], Immunology [IMM]

Education

BS, State University of New York at Stony Brook

PhD, Mount Sinai School of Medicine

Postodoctoral, Yale University School of Medicine

Awards

2013

Inventor of the Year

New York Intellectual Property Law Association

2012

Named Postdoctoral Fellowship

National Niemann-Pick Disease Foundation

2008

Dean's Award for Translational Research

Ichan School of Medicine at Mount Sinai

2007

Francis Crick Chair in Genetics and Genomic Sciences

Genetic Disease Foundation

2003

Faculty Council Award for Academic Excellence

Ichan School of Medicine at Mount Sinai

Research

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.