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Robert J Desnick, PhD, MD
Genetics and Genomics
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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
Position
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]
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
Position
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]
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
Position
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]
Clinical Focus
Video
Education
MD, University of Minnesota
Residency, Pediatrics
University of Minnesota Medical School
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
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.
Insurance Information
Physicians who provide services at hospitals and facilities in the Mount Sinai Health System might not participate in the same health plans as those Mount Sinai hospitals and facilities (even if the physicians are employed or contracted by those hospitals or facilities).
Information regarding insurance participation and billing by this physician may be found on this page, and can also be obtained by contacting this provider directly. Because physicians insurance participation can change, the insurance information on this page may not always be up-to-date. Please contact this physician directly to obtain the most up-to-date insurance information.
Insurance and health plan networks that the various Mount Sinai Health System hospitals and facilities participate in can be found on the Mount Sinai Health System website.
Publications
Selected Publications
- Setleis syndrome: Clinical, molecular and structural studies of the first TWIST2 missense mutation. R. O. Rosti, Z. O. Uyguner, I. Nazarenko, M. Bekerecioglu, C. L. Cadilla, H. Ozgur, B. H. Lee, A. K. Aggarwal, S. Pehlivan, R. J. Desnick. Clinical Genetics
- Acute porphyrias in the USA: Features of 108 subjects from porphyrias consortium. Herbert L. Bonkovsky, Vinaya C. Maddukuri, Cemal Yazici, Karl E. Anderson, D. Montgomery Bissell, Joseph R. Bloomer, John D. Phillips, Hetanshi Naik, Inga Peter, Gwen Baillargeon, Krista Bossi, Laura Gandolfo, Carrie Light, David Bishop, Robert J. Desnick. American Journal of Medicine
- JCL Roundtable: Enzyme replacement therapy for lipid storage disorders. W. Virgil Brown, Robert J. Desnick, Gregory A. Grabowski. Journal of Clinical Lipidology
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. Desnick during 2022 and/or 2023. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.
Consulting:
- Alnylam Pharmaceuticals
- Mitsubishi Tanabe Pharma
- Sanofi/Genzyme
- Recordati Rare Diseases, Inc. (RRD)
Royalty Payments:
- Alnylam Pharmaceuticals
- Shire
- Genzyme Corporation
- Luminex Corporation
- Sema4
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.