Edward H Schuchman

Edward H Schuchman, PhD

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]

Video

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.  


Locations

Publications

Publications:262
Selected Publications