Robert J. Desnick

Robert J. Desnick, M.D.
Born (1943-07-12) July 12, 1943
Minneapolis, MN
Nationality American
Fields human genetics and genomics
Institutions Mount Sinai Hospital
Alma mater University of Minnesota Medical School
Known for translational research in genetics and genomics; research on inherited metabolic diseases
Notable awards E. Mead Johnson Award (1981)

Robert J. Desnick, Ph.D., M.D., (born July 12, 1943) is a human geneticist whose research accomplishments include significant developments in disease gene discovery, inherited metabolic diseases, and the treatment of genetic diseases, including the development of enzyme replacement therapy for Fabry disease.[1][2]

Desnick is the Dean for Genetics and Genomics, and Professor and Chairman Emeritus of the Department of Genetics & Genomic Sciences at The Icahn School of Medicine at Mount Sinai in New York City. Additionally, he is Professor of Pediatrics, Professor of Oncological Sciences, and Professor of Obstetrics, Gynecology and Reproductive Science at The Mount Sinai Hospital.

Desnick is the author of more than 600 peer-reviewed articles in scientific journals, 200 book chapters and is the editor of nine books. He holds 13 patents[3] and is included in Castle Connelly's lists of Best Doctors in America and Best Doctors in New York and New York Magazine’s list of the Best Doctors every year since the inception of the rating.[4][5] He was elected to the Institute of Medicine in 2004.[6]

Biography

Desnick received his undergraduate degree from the University of Minnesota in 1965. He earned a Ph.D. in genetics from the University of Minnesota Graduate School in 1970 and his M.D. from the University of Minnesota Medical School in 1971. He completed an internship and a residency in pediatrics at the University of Minnesota Hospitals and joined the faculty at the University of Minnesota, where he rose to the rank of Associate Professor of Cell Biology and Genetics and Pediatrics.

Desnick joined the staff at Mount Sinai Medical Center in 1977, as the Arthur J. and Nellie Z. Cohen Professor of Pediatrics and Genetics and Chief of the Division of Medical and Molecular Genetics in the Department of Pediatrics. He was the first Chairman of the newly created Department of Human Genetics in 1993, which was renamed the Department of Genetics & Genomic Sciences in 2006. In 2009, he became Dean for Genetics & Genomics and Interim Director of the newly established Genomics Institute at Mount Sinai. He is currently Professor of Pediatrics, Oncological Sciences, Obstetrics, Gynecology and Reproductive Science, Gene and Cell Medicine and Professor and Chairman Emeritus of Genetics & Genomic Sciences.[7]

Desnick is an elected member of the Society for Pediatric Research, the American Pediatric Society, the American Society for Clinical Investigation, and the Association of American Physicians. He is an elected Fellow of the American Academy for the Advancement of Science, and an elected member of the Institute of Medicine of the National Academy of Sciences.[8] His research awards include the E.H. Ahrens, Jr. Award for Research from the Association for Patient-Oriented Research and the Award for Excellence in Clinical Research from the National Center for Research Resources from the National Institutes of Health.

Desnick is a past director of the American Board of Medical Genetics, a Founding Diplomat of the American College of Medical Genetics, a past member of the board of directors of the American College of Medical Genetics Foundation, and a founder and past-president of the Association of Professors of Human and Medical Genetics.[9][10] He is past chair of the Association of American Medical Colleges (AAMC), past member of the AAMC Board of Directors and past chair of the AAMC Council of Academic Societies.

Fellowships and awards

Partial list:

Grants

Partial List:[9]

Patents

Patent No. Title
6,583,158 Method for enhancing mutant enzyme activities in lysosomal storage disorders [12]
6,541,218 Acid sphingomyelinase protein and methods of treating type B Niemann-Pick disease[13]
6,455,037 Cells expressing an .alpha.gala nucleic acid and methods of xenotransplantation[14]
5,840,578 Methods for determining susceptibility to lead poisoning[15]
5,830,850 Methods for the treatment of bone resorption disorders, including osteoporosis[16]
5,773,278 Acid sphingomyelinase gene[17]
5,686,240 Acid sphingomyelinase gene and diagnosis of Niemann-Pick disease[18]
5,639,607 Method and kits for detecting a polymorphism in delta.-aminolevulinate dehydratase gene which is associated with an altered susceptibility to lead poisoning[19]
5,580,757 Cloning and expression of biologically active alpha-galactosidase A as a fusion protein[20]
5,491,075 Cloning and expression of biologically active alpha N-acetylgalactosaminidase[21]
5,401,650 Cloning and expression of biologically active alpha-galactosidase A[22]
5,382,524 Cloning and expression of biologically active alpha-N-acetylgalactosaminidase[23]
5,356,804 Cloning and expression of biologically active human alpha-galactosidase A[24]

Books

Publications

Partial list:

References

  1. ↑ Katie Charles (2008-12-31). "An infusion of hope: Genetic engineering is changing the lives of kids and adults with Fabry disease". New York Daily News. Retrieved 2010-03-01.
  2. ↑ "The American Porphyria Foundation". Retrieved 2010-03-01.
  3. ↑ "United States Patent Office". Retrieved 2010-03-01.
  4. ↑ "National Organization for Rare Disorders, Inc.". Retrieved 2010-03-01.
  5. ↑ "New York Magazine: Best Doctors 2009". Retrieved 2010-03-01.
  6. ↑ "Directory – Institute of Medicine". Retrieved 2010-03-01.
  7. ↑ "Mount Sinai Hospital - Doctor profile". Retrieved 2015-04-09.
  8. ↑ "Journal of the National Cancer Institute". Retrieved 2010-03-01.
  9. 1 2 "ResearchCrossroads". Archived from the original on July 27, 2011. Retrieved 2010-03-01.
  10. ↑ "MyNewsdesk". Retrieved 2010-03-01.
  11. ↑ "Distinguished Alumni Award". Medical School - University of Minnesota. 11 November 2014. Retrieved April 29, 2016.
  12. ↑ "USPTO: Method for enhancing mutant enzyme activities in lysosomal storage disorders". Retrieved 2015-04-09.
  13. ↑ "USPTO: Acid sphingomyelinase protein and methods of treating type B Niemann-Pick disease".
  14. ↑ "USPTO: Cells expressing an .alpha.gala nucleic acid and methods of xenotransplantation".
  15. ↑ "USPTO: Methods for determining susceptibility to lead poisoning".
  16. ↑ "USPTO: Methods for the treatment of bone resorption disorders, including osteoporosis".
  17. ↑ "USPTO: Acid sphingomyelinase gene".
  18. ↑ "USPTO: Acid sphingomyelinase gene and diagnosis of Niemann-Pick disease".
  19. ↑ "USPTO: Method and kits for detecting a polymorphism in delta.-aminolevulinate dehydratase gene which is associated with an altered susceptibility to lead poisoning".
  20. ↑ "USPTO: Cloning and expression of biologically active alpha-galactosidase A as a fusion protein".
  21. ↑ "USPTO: Cloning and expression of biologically active alpha N-acetylgalactosaminidase".
  22. ↑ "USPTO: Cloning and expression of biologically active alpha-galactosidase A".
  23. ↑ "USPTO: Cloning and expression of biologically active alpha-N-acetylgalactosaminidase".
  24. ↑ "Cloning and expression of biologically active human alpha-galactosidase A".
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