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Edward H Schuchman, PhD
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About Me
Language
Position
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]
About Me
Language
Position
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]
About Me
Language
Position
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
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
Selected Publications
- Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B). Tarekegn Geberhiwot, Melissa Wasserstein, Subadra Wanninayake, Shaun Christopher Bolton, Andrea Dardis, Anna Lehman, Olivier Lidove, Charlotte Dawson, Roberto Giugliani, Jackie Imrie, Justin Hopkin, James Green, Daniel de Vicente Corbeira, Shyam Madathil, Eugen Mengel, Fatih Ezgü, Magali Pettazzoni, Barbara Sjouke, Carla Hollak, Marie T. Vanier, Margaret McGovern, Edward Schuchman. Orphanet Journal of Rare Diseases
- Immunotherapy targeting plasma ASM is protective in a mouse model of Alzheimer’s disease. Byung Jo Choi, Min Hee Park, Kang Ho Park, Wan Hui Han, Hee Ji Yoon, Hye Yoon Jung, Ju Yeon Hong, Md Riad Chowdhury, Kyung Yeol Kim, Jihoon Lee, Im Sook Song, Minyeong Pang, Min Koo Choi, Erich Gulbins, Martin Reichel, Johannes Kornhuber, Chang Won Hong, Changho Kim, Seung Hyun Kim, Edward H. Schuchman, Hee Kyung Jin, Jae sung Bae. Nature Communications
- The cholesterol transporter NPC1 is essential for epigenetic regulation and maturation of oligodendrocyte lineage cells. Thaddeus J. Kunkel, Alice Townsend, Kyle A. Sullivan, Jean Merlet, Edward H. Schuchman, Daniel A. Jacobson, Andrew P. Lieberman. Nature Communications