Robert J. Desnick

Robert J. Desnick, Ph.D., M.D., D.Sc. (Hon) (born July 12, 1943) is a human geneticist whose basic and translational research accomplishments include significant discoveries in genomics, pharmacogenetics, gene therapy, personalized medicine, and the treatment of genetic diseases. His translational research has led to the development of enzyme replacement therapy for Fabry diseaseand Niemann–Pick disease type B (in "breakthrough" clinical trials). He was the co-founder of Amicus Therapeutics, a biopharmaceutical company developing pharmacologic chaperone therapies (Galafold approved 2018), and served as the Chairman of the Scientific Advisory Committee (SAC) of Synageva BioPharma.

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 535 peer-reviewed articles in scientific journals, 245 book chapters and is the editor of nine books. He holds 13 patents and is included in Castle Connelly's lists of Best Doctors in America and Best Doctors in New York andNew York Magazine’s list of the Best Doctors every year since the inception of the rating. He was elected to the Institute of Medicine in 2004.

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.

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 Association for the Advancement of Science, and an elected member of the Institute of Medicine of the National Academy of Sciences. 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.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.

He lives in New York City with his wife, Julie Herzig Desnick, and son, Jonathan Desnick.Julie is an Abstract Expressionist painter and a LEED-certified, Registered Architect.

He is a Trustee of the American School of Classical Studies in Athens.

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 Medical School, 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
• 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
• Distinguished Service Award, Association of American Medical Colleges, 2010
• Faculty Council Senior Award, Mount Sinai School of Medicine, 2011
• Lifetime Innovation & Achievement Award of the Lysosomal Disease Network, NIH, 2013
• Genetic Disease Foundation Scientific Honoree for Contributions to Genetic Research and Genetic Medicine
• 2013 Inventor of the Year Award of the New York Intellectual Property Law Association, 2013
• 2017 Rare Impact Award, National Organization for Rare Disorder
• University of Minnesota, College of Biological Sciences, Lifetime Achievement Award, 2018
• University of Minnesota, Outstanding Achievement Award, 2019

Partial list:

• Research Training For Medical Geneticists at Icahn School of Medicine at Mount Sinai, National Institute of General Medical Sciences
• Porphyria Rare Disease Clinical Research Consortium (rdcrc), National Institute of Diabetes and Digestive and Kidney Diseases
• Mental Retardation and Developmental Disabilities, National Institute of Child Health and Human Development
• Porphyrias and Human Heme Biosynthesis, National Institute of Diabetes and Digestive and Kidney Diseases
• Alpha Galactosidases A And B – Molecular and Cellular Mechanisms, National Institute of Diabetes and Digestive and Kidney Diseases
• Gene Therapy: Lysosomal Diseases With Mental Retardation, National Institute of Child Health & Human Development

• 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. doi:10.1038/sj.mt.6300066 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. doi:10.1681/ASN.2006080816 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. Mutat. 28:866–873, 2007. doi:10.1002/humu.20524 PMID 17464953
• Desnick, R. J: Prenatal diagnosis of Fabry disease Prenat. Diag. 27:693–694, 2007. doi:10.1002/pd.1767 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. doi:10.2217/14622416.8.7.721 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. doi:10.1002/jgm.1074 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. doi:10.1002/prot.21755 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. doi:10.1016/j.ajhg.2007.10.002 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. doi:10.1542/peds.2007-3016 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. doi:10.1093/ndt/gfp031 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. doi:10.1007/s10545-009-1077-0 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, R. J., Kerenyi, T., Khoueiry, G., Lafferty, J., McGinn, J. T., Brodman, M., Fuster, V., Hajjar, R. J., and Polgar, K. Amniotic fluid cells are more efficiently reprogrammed to pluripotency than adult cells. Cloning Stem Cells [Epub] Dec. 17, 2009. PMID 20677926 doi:10.1089/cell.2009.0077
• 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. doi:10.1038/mt.2009.220 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. doi:10.1038/mt.2009.250 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. doi:10.1161/STROKEAHA.109.558320 PMID 20007919