Robert J. Desnick

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

Robert J. Desnick, Ph.D., M.D., 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 Mount Sinai School of Medicine 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 SinaiSchool of Medicine.

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]


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 & Geonomics 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 Chair 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[edit]

Partial list:

  • U.S. Public Health Service Fellowship in Genetics, 1968–1970
  • Ross Award in Pediatric Research, 1972
  • C.J. Watson Award, University of Minnesota, 1973
  • NIH Research Career Development Award, 1975–1980
  • E. Mead Johnson Award for Research in Pediatrics of the American Academy of Pediatrics, 1981
  • Honorary Member, Japanese Society for Inherited Metabolic Diseases, Elected 1985
  • Correspondent Member, Societá Italiana di Pediatria, Elected 1991
  • Honorary Member, Societá Italiana di Pediatria, Elected 1999
  • Outstanding Faculty Award, Mount Sinai School of Medicine, 1991
  • NIH MERIT Award, 1992–2004
  • J. Lester Gabrilove Award for Medical Research, 2003
  • Jacobi Medal, Mount Sinai Alumni Association, 2004
  • Edward H. Ahrens, Jr. Award for Research from the Association for Patient-Oriented Research, 2004
  • University of Minnesota Medical School Distinguished Alumni Award, 2004[11]
  • 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, 2004
  • Award for Excellence in Clinical Research from the National Center for Research Resources, NIH, 2005
  • Albion O. Bernstein, MD Award for Contributions in Disease Prevention from the New York State Medical Society, 2005


Partial List:[9]


Patent No. Title
6,583,158 Method for enhancing mutant enzyme activities in lysosomal storage disorders
6,541,218 Acid sphingomyelinase protein and methods of treating type B Niemann-Pick disease
6,455,037 Cells expressing an .alpha.gala nucleic acid and methods of xenotransplantation
5,840,578 Methods for determining susceptibility to lead poisoning
5,830,850 Methods for the treatment of bone resorption disorders, including osteoporosis
5,773,278 Acid sphingomyelinase gene
5,686,240 Acid sphingomyelinase gene and diagnosis of Niemann-Pick disease
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
5,580,757 Cloning and expression of biologically active alpha-galactosidase A as a fusion protein
5,491,075 Cloning and expression of biologically active alpha N-acetylgalactosaminidase
5,401,650 Cloning and expression of biologically active alpha-galactosidase A
5,382,524 Cloning and expression of biologically active alpha-N-acetylgalactosaminidase
5,356,804 Cloning and expression of biologically active human alpha-galactosidase A


  • Desnick, R.J., Bernlohr, R.W. and Krivit, W., eds.: Enzyme Therapy in Genetic Diseases, Birth Defects Original Article Series. Vol. IX, No. 2. The National Foundation, New York, pp. 236, 1973. ISBN 0-683-06367-7
  • Rubenstein, I., Phillips, R.L., Green, C.E. and Desnick, R.J., eds.: Molecular Genetic Modification of Eucaryotes, Academic Press, New York, pp. 171, 1977. ASIN B000N5X2F2
  • Desnick, R.J., ed.: Enzyme Therapy in Genetic Diseases: 2, Alan R. Liss, Inc., New York, pp. 544, 1980. ISBN 0-8451-1035-7
  • Desnick, R.J., Patterson, D.F. and Scarpelli, D.F., eds.: Animal Models of Inherited Metabolic Diseases. Alan R. Liss, Inc., New York, pp. 519, 1982. ASIN B0028IQ4KC
  • Desnick, R.J., Gatt, S. and Grabowski, G.A., eds.: Gaucher Disease: A Century of Delineation and Research, Alan R. Liss, Inc., New York, pp. 740, 1982. ISBN 0-8451-0095-5
  • Bishop, D.F. and Desnick, R.J., eds.: Assays of the Heme Biosynthetic Enzymes. Enzyme 28:1-232, 1982. ISBN 978-3-8055-3573-1
  • Tada, K., Colombo, J.P. and Desnick, R.J., eds.: Recent Advances in Inborn Errors of Metabolism. Karger, Basel, pp. 332, 1987. ISBN 3-8055-4772-2
  • Desnick, R.J., ed.: Treatment of Genetic Diseases, Churchill Livingstone, Inc., New York, pp. 331, 1991. ISBN 0-443-08773-3
  • Desnick, R.J. and Kaback, M.M., eds.: Tay-Sachs Disease, Academic Press, pp. 1–360, 2001. ISBN 0-12-017644-0


Partial list:

  • Ziegler, RJ, Cherry, M, Barbon, CM, Li, C, Bercury, SD, Armentano, D, Desnick, RJ, Cheng, SH: Correction of the biochemical and functional deficits in Fabry mice following AAV8-mediated hepatic expression of alpha-galactosidase A Mol. Ther. 15:492-500, 2007. PMID 17191071
  • Germain, DP, Waldek, S, Banikazemi, M, Bushinsky, DA, Charrow, J, Desnick, RJ, Lee, P, Loew, T, Vedder, AC, Abichandani, R, Wilcox, WR, and Guffon, N: Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease J. Am. Soc. Nephrol. 18:1547-1557, 2007. PMID 17409312
  • Grace, ME, Balwani, M, Nazarenko, I, Prakash-Cheng, A, and Desnick, RJ: Type 1 Gaucher disease: Null and hypomorphic novel chitotriosidase mutations- implications for diagnosis and therapeutic monitoring. Hum. Mut. 28:866-873, 2007. PMID 17464953
  • Desnick, R.J: Prenatal diagnosis of Fabry disease Prenat. Diag. 27:693-694, 2007. PMID 17533632
  • Scott, SA, Edelmann, L, Kornreich, R, Erazo, M and Desnick, RJ: CYP2C9, CYP2C19, and CYP2D6 allele frequencies in the Ashkenazi Jewish population. Pharmacogenomics 8:721-730, 2007. PMID 18240905
  • Yasuda, M, Domaradzki, M, Bishop, DF, and Desnick, RJ: Acute intermittent porphyria: Vector optimization for gene therapy J. Gene Med. 9:806-911, 2007. PMID 17654633
  • Cunha, L, Kuti, M, Bishop, DF, Mezei, M, Zeng, L, Zhou, MM and Desnick, RJ: Human uroporphyrinogen III synthase: NMR-based mapping of the active site. Proteins 71:855-873, 2008. PMID 18004775
  • Scott, SA, Edelmann, L, Kornreich, R and Desnick, RJ: Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotype predict different sensitivities and resistance frequencies in the Ashkenazi and Sephardi Jewish populations. Am. J. Hum. Genet. 82:495-500, 2008. PMID 18252229
  • McGovern, MM, Wasserstein, MP, Giugliani, R, Bembi, B, Vanier, M, Mengel, E, Brodie, SE, Mendelson, D, Skloot, G, Schuchman, EH Kuriyama, N, Desnick, RJ, and Cox, GF: A prospective, crosssectional survey study of the natural history of Niemann-Pick disease Type B. Pediatrics 122: e341-349, 2008. PMID 18625664
  • Schiffmann, R, Banikazemi, M, Bultas, J, Linthorst, GE, Packman, S, Warnock, D, Asger Sorensen, S, Wilcox, WR, and Desnick, RJ: Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy Nephrol. Dial. Transplant. 24:2102-2111, 2009. PMID 19218538
  • Benjamin, ER, Flanagan, JJ, Schilling, A, Chang, HH, Agarwal, L, Datz, E, Wu, X, Pine, C, Wustman, B, Desnick, RJ, Lockhart, DJ, and Valenzano, KJ: The pharmacological chaperone 1-deoxygalactonojirimycin increases α-galactosidase A levels in Fabry patient cell lines. J. Inherit. Dis. 3:424-440, 2009. PMID 19387866
  • Hwu, WL, Chien, YH, Lee, NC, Chiang, SC, Huang, AC, Yeh, HY, Chao, MC, Lin, SJ, Kitagawa, T, Hse, LW, Desnick, RJ, and Hsu, LW: Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset mutation, IVS4+919G>A. Hum. Mutat., June 26, 2009. PMID 19621417
  • Scott, SA, Jaremko, M, Lubitz, S, Halperin, JL, Desnick, RJ: CYP2C9*8 is prevalent in African-Americans: implications for pharmacogenetic dosing. Pharmacogenomics 10:1243-1255, 2009. PMID 1963669
  • Galende, E., Karakikes, I, Edelmann, L, Desnick, RJ, Kerenyi, T, Khoueiry, G, Lafferty, J, McGinn, JT, Brodman, M, Fuster, V, Hajjar, RJ, and Polgar, K Amniotic fluid cells are more efficiently reprogrammed to pluripotency than adult cells. Cloning Stem Cells [Epub] Dec. 17, 2009. PMID 20017623
  • Khanna, R, Soska, R, Lun, Y, Feng, J, Frascella, M, Young, B, Brignol, N, Pellegrino, L, Sitaraman, SA, Desnick, RJ, Benjamin, ER, Lockhart, DJ and Valenzano, KJ: The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. Mol. Ther. 18:23-33, 2010. PMID 19773742
  • Yasuda, M, Bishop, DF, Gan, L, Fowkes, M, Ziegler, R, Cheng, SH, and Desnick, RJ: AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria. Mol. Ther. 18:17-22, 2010. PMID 19861948
  • Wozniak, M, Kittner, S, Tuhrim, S, Cole, J, Stern, B, Dobbins, M, Grace, M, Nazarenko, I, Dobrovolny, R, McDade, E, Desnick, RJ: Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke. Stroke 41: 78-81, 2010. PMID 20007919


  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 2010-03-01. 
  8. ^ "Journal of the National Cancer Institute". Retrieved 2010-03-01. 
  9. ^ a b "ResearchCrossroads". Retrieved 2010-03-01. 
  10. ^ "MyNewsdesk". Retrieved 2010-03-01. 
  11. ^ "Minnesota Medical Foundation; University of Minnesota". Retrieved 2010-03-01. 

External links[edit]