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
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]