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
Training Areas
Education
B.S., State University of New York
M.Ph., Mount Sinai School of Medicine
Ph.D., Mount Sinai School of Medicine
Yale University School of Medicine
Awards
2008 -
Dean's Award for Translational Research
2007 -
Francis Crick Chair in Genetics and Genomic Sciences
Genetic Disease Foundation2003 -
Faculty Council Award for Academic Excellence
Research
Specific Clinical/Research Interest:The biology and treatment of lysosomal storage disorders; the role of lipid hydrolases in cell signaling
Current Students: Ph.D.: Nataly Shtraizent
Postdoctoral Fellows: Fourgh Katozian
Research Personnel: Research Faculty: Xingxuan He, Calogera Simonaro, Efrat Eliyahu; Research Assistant: Yi Ge, Zhenxian Xu, Dafna Chen
Summary of Research Studies:
Our laboratory studies the biology of lysosomal enzymes, genes and diseases. Our long-term goal is to utilize the basic knowledge gained from this research to develop and implement novel therapies for human patients who suffer from lysosomal storage disorders. Our research integrates molecular genetic, biochemical and cell biological techniques to accomplish these studies. A particular emphasis of the laboratory is the development and characterization of animal models for human lysosomal disorders, and the utilization of these animal models to evaluate novel therapeutic approaches. Among these approaches are stem cell transplantation, gene therapy, and enzyme replacement. We are also very interested in the mechanisms underlying genetic regulation of lysosomal proteins and the role these proteins play in cell growth and development. Towards this latter goal, we are studying the role of two enzymes, acid sphingomyelinase and acid ceramidase, in sphingolipid-mediated signal transduction, and evaluating how these enzymes can be used in cancer therapy to enhance tumor cell death.
Publications
Simonaro CM, D'Angelo M, He X, Schuchman EH, Shtraizent N, Haskins ME, Eliyahu E. Mechanism of glycosaminoglycan-mediated joint and bone disease: Implications for the mucopolysaccharodoses & other connective tissue diseases. Am. J. Path 2008; 172: 112-122.
Shtraizent N, Eliyahu E, Park J, He X, Shalgi R, Schuchman EH. Autoproteolytic cleavage and activation of human acid ceramidase. J. Biol. Chem 2008; 283: 11253-11259.
Smith EL, Schuchman EH. Acid sphingomyelinase enhances the anti-oncogenic effects of irradiation in vitro and in vivo. Mol. Ther 2008; 16: 1565-1571.
He X, Huang Y, Li B, Gong C, Schuchman H. Deregulation of sphingolipid metabolism in Alzheimer's disease [Epub ahead of print]. Neur. Biol. Ageing 2008;.
Jones I, He X, Darroch P, Schuchman EH. Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models. Mol. Gen. Met 2008; 95: 152-162.
Lloyd-Evans E, Morgan AJ, He X, Smith D, Eliott-Smith E, Sillence DJ, Churchill G, Schuchman EH, Platt FM. Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium that can be treated with curcumin. Nat. Med 2008; 14: 1247-1255.
Butler A, Schuchman EH, Gatt S, Gordon RE. Sperm selection for genetic diseases: ''Proof of Principle'' in heterozygous acid sphingomyelinase knock out mice. Am. J. Path 2007; 170: 2077-2088.
Eliyahu E, Park JH, Schuchman EH, Shtraizent N, He X. Acid ceramidase is required for embryo survival beyond the 2-cell stage. FASEB J 2007; 21: 1403-1409.
Simonaro CM, Park JH, Schuchman EH, McGovern MM, Eliyahu E. Imprinting at the SMPD-1 gene: Implications for acid sphingomyelinase-deficient Niemann-Pick disease. Am. J. Hum. Gen 2006; 78: 79-84.
Dhami R, Schuchman EH, He X. Gene expression analysis in acid sphingomyelinase deficient mice. Novel insights into disease pathogenesis and identification of potential biomarkers to monitor Niemann-Pick disease treatment. Mol. Ther 2005; 13: 556-563.
Industry Relationships
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 2012 and/or 2013. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.
Consulting:
- Genzyme Corporation; Orphazyme
Other Activities: Examples include, but are not limited to, committee participation, data safety monitoring board (DSMB) membership.
- Trans Ova Genetics
Royalty Payments:
- Genzyme Corporation; Luminex Corporation
Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website at http://icahn.mssm.edu/about-us/services-and-resources/faculty-resources/handbooks-and-policies/faculty-handbook. Patients may wish to ask their physician about the activities they perform for companies.
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