In this "Daily Check Up" feature from The Daily News, Dr. Desnick talks about treating genetic diseases. View the PDF.
Language
English
Position
PROFESSOR & CHAIR EMERITUS | Genetics and Genomic Sciences, PROFESSOR | Pediatrics, PROFESSOR | Oncological Sciences, PROFESSOR | Obstetrics, Gynecology and Reproductive Science
Hospital Affiliations
Mount Sinai Queens
The Mount Sinai Hospital
Research Topics
Enzymology, Gene Discovery, Genetics, Genomics, Human Genetics and Genetic Disorders, Lysosomal Storage Diseases, Lysosomes/endosome, Protein Complexes, Protein Degradation, Protein Folding, Protein Structure/Function, Proteomics, Stem Cells
Multi-Disciplinary Training Areas
Genetics and Genomic Sciences [GGS]
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About Me
In the News
In this "Daily Check Up" feature from The Daily News, Dr. Desnick talks about treating genetic diseases. View the PDF.
Language
English
Position
PROFESSOR & CHAIR EMERITUS | Genetics and Genomic Sciences, PROFESSOR | Pediatrics, PROFESSOR | Oncological Sciences, PROFESSOR | Obstetrics, Gynecology and Reproductive Science
Hospital Affiliations
Mount Sinai Queens
The Mount Sinai Hospital
Research Topics
Enzymology, Gene Discovery, Genetics, Genomics, Human Genetics and Genetic Disorders, Lysosomal Storage Diseases, Lysosomes/endosome, Protein Complexes, Protein Degradation, Protein Folding, Protein Structure/Function, Proteomics, Stem Cells
American Board of Medical Genetics/Clinical Genetics
Awards
2010
Distingushed Service Award
Association of American Medical Colleges
2005
Award for Excellence in Clinical Research
National Center for Research Resources, NIH
2005
Albion O. Bernstein, MD Award for Contributions in Disease Prevention
New York State Medical Society
2004
Jacobi Medal
Mount Sinai Alumni Association
2004
Edward H. Ahrens Jr. Award for Research
Association for Patient-Oriented Research
2004
Distinguished Alumni Award
University of Minnesota Medical School
2004
Doctor of Science, Honoris Causa
Mount Sinai School of Medicine of New York University
2004
Elected Senior Fellow,
American Association for the Advancement of Science
2004
Elected Member
Institute of Medicine of the National Academy of Sciences
2003
J. Lester Gabrilove Award for Medical Research
2000
Best Doctors
New York Magazine
1999
Honorary Member
Societá Italiana di Pediatria
1992
NIH MERIT Award
1991
Correspondent Member
Societá Italiana di Pediatria
1991
Outstanding Faculty Award
Mount Sinai School of Medicine
1985
Honorary Member
Japanese Society for Inherited Metabolic Diseases
1981
E. Mead Johnson Award for Research in Pediatrics of the American Academy of Pediatrics
1975
NIH Research Career Development Award
1973
C.J. Watson Award, University of Minnesota
1968
U.S. Public Health Service Fellowship in Genetics
Research
For the past two decades, studies of the lysosome and the pathogenesis and treatment of lysosomal storage diseases have been a major research theme of this laboratory. For example, in Fabry disease (galactosidase-Gal A] deficiency), our group isolated the human-Gal A gene, developed novel overexpression methods, and made knock-out mice with Fabry disease for preclinical studies of enzyme and gene therapy. These basic science studies provided the rationale for the clinical trials of enzyme therapy that proved effective in this disease. These studied culminated in approval of enzyme replacement for Fabry disease by the FDA in April 2003. Current studies are directed to: 1) identify and characterize the structure/function relationships of mutations in the Gal A gene which cause Fabry disease, 2) develop novel therapeutic strategies to treat Fabry disease and other disorders due to protein misfolding by rescuing/stabilizing the misfolded protein with small molecule pharmacologic chaperones, and 3) develop stem cell and gene replacement strategies for these diseases.
Heme biosynthesis requires eight enzymatic steps to convert succinyl-CoA and glycine to the final product, heme. All eight enzymes are encoded by nuclear genes, with the first and last three enzymes being located in the mitochondria while the second through fifth enzymes are in the cytosol. The inherited porphyrias are inborn errors of heme biosynthesis, each resulting from the deficient activity of a particular enzyme. Previously, our laboratory: 1) developed assays, 2) purified these enzymes, 3) isolated and characterized the cDNAs and genomic sequences encoding several enzymes, and 4) identified molecular lesions causing the different porphyrias. Recently, we developed knock-in mouse models for an erythropoietic porphyria, congenital erythropoietic porphyria (CEP), and are currently developing knock-in mice to generate an improved mouse model for a hepatic porphyria, acute intermittent porphyria (AIP). These models will permit studies of the cutaneous and acute neurologic pathophysiologies of these porphyrias, and facilitate the development of novel therapies. Current therapeutic efforts in these models include hematopoietic stem cell therapy for CEP and AAV-8 mediated hepatic-targeted gene therapy for AIP.
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Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device, biotechnology companies, and other outside entities 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 outside financial relationships.
Dr. Desnick has not yet completed reporting of Industry relationships.
Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.
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Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device, biotechnology companies, and other outside entities 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 outside financial relationships.
Dr. Desnick has not yet completed reporting of Industry relationships.
Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.