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the
Department of Genetics & Genomic Sciences in 2006. In 2009, he became Dean for Genetics & Genomic Medicine 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.
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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.
247:
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. He was the first chairman of the newly created Department of Human Genetics in 1993, which was renamed
771:
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,
931:
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,
31:
1009:
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.
212:
Desnick is the author of more than 590 peer-reviewed articles in scientific journals, 250 book chapters and is the editor of 10 books. He holds 26 US issued and licensed patents and is included in Castle
Connelly's lists of Best Doctors in America and Best Doctors in New York and
967:
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.
909:
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, cross-sectional survey study of the natural history of
Niemann-Pick disease Type B.
1945:, Desnick, Robert J. & Wetmur, James G., "Method and kits for detecting a polymorphism in δ-aminolevulinate dehydratase gene which is associated with an altered susceptibility to lead poisoning", published 1997-06-17, assigned to
753:
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.
1045:
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.
789:
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.
1197:
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2019:, Schuchman, Edward H.; Desnick, Robert J. & Cox, Gerald F. et al., "Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency", published 2017-05-23, assigned to
1967:, Schuchman, Edward H.; Desnick, Robert J. & Cox, Gerald F. et al., "Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency", published 2017-05-23, assigned to
1893:, Schuchman, Edward H.; Desnick, Robert J. & Cox, Gerald F. et al., "Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency", published 2014-04-29, assigned to
1867:, Schuchman, Edward H.; Desnick, Robert J. & Cox, Gerald F. et al., "Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency", published 2014-02-25, assigned to
1841:, Schuchman, Edward H.; Desnick, Robert J. & Cox, Gerald F. et al., "Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency", published 2013-01-08, assigned to
2119:, Schuchman, Edward H.; Desnick, Robert J. & Cox, Gerald F et al., "Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency", published 2019-01-29, assigned to
1221:
294:, 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
887:
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.
1613:, Desnick, Robert J.; Bishop, David F. & Ioannou, Yiannis A. et al., "Cloning and expression of biologically active alpha N-acetylgalactosaminidase", published 1996-02-13, assigned to
1569:, Desnick, Robert J.; Bishop, David F. & Ioannou, Yiannis A. et al., "Cloning and expression of biologically active α-N-acetylgalactosaminidase", published 1995-01-17, assigned to
1749:, Ioannou, Yiannis; Desnick, Robert J. & Sandrin, Mauro S. et al., "Cells expressing an αGalA nucleic acid and methods of xenotransplantation", published 2002-09-24, assigned to
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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.
2145:, Bettencourt, Brian; Fitzgerald, Kevin & Querbes, William et al., "Compositions and methods for inhibiting expression of the ALAS1 gene", published 2021-06-08, assigned to
2093:, Bettencourt, Brian; Fitzgerald, Kevin & Querbes, William et al., "Compositions and methods for inhibiting expression of the ALAS1 gene", published 2018-11-13, assigned to
2067:, Bettencourt, Brian; Fitzgerald, Kevin & Querbes, William et al., "Compositions and methods for inhibiting expression of the ALAS1 gene", published 2018-11-06, assigned to
1993:, Bettencourt, Brian; Fitzgerald, Kevin & Querbes, William et al., "Compositions and methods for inhibiting expression of the ALAS1 gene", published 2017-04-25, assigned to
1919:, Bettencourt, Brian; Fitzgerald, Kevin & Querbes, William et al., "Compositions and methods for inhibiting expression of the ALAS1 gene", published 2015-09-15, assigned to
1635:, Gelb, Bruce D.; Chapman, Harold & Desnick, Robert J., "Cloning and expression of biologically active α-galactosidase A as a fusion protein", published 1996-12-03, assigned to
1797:, Fan, Jian-Qiang; Ishii, Satoshi & Asano, Naoki et al., "Method for enhancing mutant enzyme activities in lysosomal storage disorders", published 2003-06-24, assigned to
1361:
1547:, Desnick, Robert J.; Bishop, David F. & Ioannou, Yiannis A., "Cloning and expression of biologically active human alpha-galactosidase A", published 1994-10-18, assigned to
1701:, Gelb, Bruce D.; Chapman, Harold & Desnick, Robert J., "Methods for the treatment of bone resorption disorders, including osteoporosis", published 1998-11-03, assigned to
306:
He lives in New York City and Palm Beach with his wife, Julie Herzig Desnick, and son, Jonathan Desnick. Julie is an Abstract Expressionist painter and a LEED-certified, Registered Architect.
1775:, Schuchman, Edward H. & Desnick, Robert J., "Acid sphingomyelinase protein and methods of treating type B Niemann-Pick disease", published 2003-04-01, assigned to
1591:, Desnick, Robert J.; Bishop, David F. & Ioannou, Yiannis A., "Cloning and expression of biologically active α-galactosidase A", published 1995-03-28, assigned to
298:(AAMC), past member of the AAMC Board of Directors and past chair of the AAMC Council of Academic Societies. He is currently the President of the American Porphyrias Expert Collaborative.
1154:
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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.
275:. 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
186:
Pharmaceuticals. The enzyme therapy developed in his laboratory and licensed to Genzyme as Fabrazyme, along with Cerazyme for Gaucher disease, helped build the rare disease company
520:
514:
502:
2045:, Edelmann, Lisa & Desnick, Robert J., "Materials and methods for identifying spinal muscular atrophy carriers", published 2018-06-12, assigned to
1657:, Schuchman, Edward H. & Desnick, Robert J., "Acid sphingomyelinase gene and diagnosis of Niemann-Pick disease", published 1997-11-11, assigned to
1474:
178:, a biopharmaceutical company developing pharmacologic chaperone therapies (Galafold approved 2018), and served as the Chairman of the Scientific Advisory Committees (SAC) of
168:
526:
1727:, Desnick, Robert J. & Wetmur, James G., "Methods for determining susceptibility to lead poisoning", published 1998-11-24, assigned to
2220:
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272:
218:
1819:, Schuchman, Edward H. & Desnick, Robert J., "Chaperone-based therapy for Niemann-Pick disease", published 2010-07-06, assigned to
593:
Method and kits for detecting a polymorphism in δ-aminolevulinate dehydratase gene which is associated with an altered susceptibility to lead poisoning, (2017).
2230:
1365:
1175:
992:, Hajjar, R. J., and Polgar, K. Amniotic fluid cells are more efficiently reprogrammed to pluripotency than adult cells. Cloning Stem Cells Dec. 17, 2009.
2215:
205:. Additionally, he is Professor of Pediatrics, Professor of Oncological Sciences, and Professor of Obstetrics, Gynecology and Reproductive Science at The
402:
264:
866:
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.
197:
Desnick is the Dean for Genetics and Genomic Medicine, and Professor and Chairman Emeritus of the Department of Genetics & Genomic Sciences at The
244:
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.
1082:
1475:"Two Mount Sinai Researchers Named "Inventors of the Year" by the New York Intellectual Property Law Association | Mount Sinai Innovation Partners"
824:
Scott, SA, Edelmann, L, Kornreich, R, Erazo, M and Desnick, RJ: CYP2C9, CYP2C19, and CYP2D6 allele frequencies in the Ashkenazi Jewish population.
496:
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1679:, Schuchman, Edward H. & Desnick, Robert J., "Acid sphingomyelinase gene", published 1998-06-30, assigned to
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Galende, E., Karakikes, I., Edelmann, L., Desnick, R. J., Kerenyi, T., Khoueiry, G., Lafferty, J., McGinn, J. T., Brodman, M.,
416:
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Part of his genetics laboratory at Mount Sinai was spun out into Sema4 (NASDAQ: SMFR), which IPO’d in 2021 for $ 3 billion.
291:
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Yasuda, M, Domaradzki, M, Bishop, DF, and Desnick, RJ: Acute intermittent porphyria: Vector optimization for gene therapy
1266:
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in 1965. He earned a Ph.D. in genetics from the University of Minnesota Graduate School in 1970 and his M.D. from the
1151:"FDA Approves Galafold™ (Migalastat) for the Treatment of Certain Adult Patients with Fabry Disease - New York Times"
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1127:"Alnylam Announces Approval of GIVLAARI® (givosiran) in the European Union for the Treatment of Acute Hepatic"
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1083:"An infusion of hope: Genetic engineering is changing the lives of kids and adults with Fabry Disease"
155:, and the treatment of genetic diseases. His translational research has led to the development of the
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Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency, (2019).
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Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency, (2017).
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Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency, (2017).
587:
Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency, (2014).
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Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency, (2014).
581:
Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency, (2013).
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Edward H. Ahrens, Jr. Award for Research from the Association for Patient-Oriented Research, 2004
233:
550:
Cloning and expression of biologically active alpha-galactosidase A as a fusion protein, (1996).
217:’s list of the Best Doctors every year since the inception of the rating. He was elected to the
2210:
75:
2184:
410:
National Academy of Medicine of the National Academies of Sciences, Engineering, and Medicine
398:
Doctor of Science, Honoris Causa, Mount Sinai School of Medicine of New York University, 2004
347:
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1989:
1915:
190:, which has spawned more CEOs than any other company in history following its 2011 sale to
629:
Enzyme Therapy in Genetic Diseases, Birth Defects Original Article Series. Vol. IX, No. 2.
572:
Acid sphingomyelinase protein and methods of treating type B Niemann-Pick disease, (2003).
139:
whose basic and translational research accomplishments include significant discoveries in
8:
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175:
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Methods for the treatment of bone resorption disorders, including osteoporosis, (1998).
1306:
989:
495:
Research Training For Medical Geneticists at Icahn School of Medicine at Mount Sinai,
348:
E. Mead Johnson Award for Research in Pediatrics of the American Academy of Pediatrics
1058:
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Method for enhancing mutant enzyme activities in lysosomal storage disorders, (2003).
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Desnick, R. J: Prenatal diagnosis of Fabry disease Prenat. Diag. 27:693–694, 2007.
791:
773:
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Cells expressing an αGalA nucleic acid and methods of xenotransplantation, (2002).
547:
Cloning and expression of biologically active α-N-acetylgalactosaminidase, (1996).
541:
Cloning and expression of biologically active α-N-acetylgalactosaminidase, (1995).
538:
Cloning and expression of biologically active human alpha-galactosidase A, (1994).
283:. He received the Outstanding Achievement Award from the University of Minnesota.
1754:
1055:
897:
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Materials and methods for identifying spinal muscular atrophy carriers, (2018).
563:
422:
Albion O. Bernstein, MD Award for Contributions in Disease Prevention from the
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1972:
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Compositions and methods for inhibiting expression of the ALAS1 gene, (2021).
611:
Compositions and methods for inhibiting expression of the ALAS1 gene, (2018).
608:
Compositions and methods for inhibiting expression of the ALAS1 gene, (2018).
599:
Compositions and methods for inhibiting expression of the ALAS1 gene, (2017).
590:
Compositions and methods for inhibiting expression of the ALAS1 gene, (2015).
453:
Scientific Honoree for Contributions to Genetic Research and Genetic Medicine
202:
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1521:"CBS Recognizes Three Outstanding Alumni | College of Biological Sciences"
983:
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444:
937:
553:
Acid sphingomyelinase gene and diagnosis of Niemann-Pick disease, (1997).
240:
in 1971. He completed an internship and a residency in pediatrics at the
42:
1033:
1015:
641:
Rubenstein, I., Phillips, R. L., Green, C. E. and Desnick, R. J., eds.:
544:
Cloning and expression of biologically active α-galactosidase A, (1995).
251:
Desnick is an elected member of the Society for Pediatric Research, the
875:
795:
854:
46:
812:
30:
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110:
1496:"Dr. Robert J. Desnick, MD, Ph.D - 2017 Rare Impact Award Honoree"
519:
Alpha Galactosidases A And B – Molecular and Cellular Mechanisms,
472:, College of Biological Sciences, Lifetime Achievement Award, 2018
78:
in genetics and genomics; research on inherited metabolic diseases
666:
Alan R. Liss, Inc., New York, pp. 519, 1982. ASIN B0028IQ4KC
187:
521:
National Institute of Diabetes and Digestive and Kidney Diseases
515:
National Institute of Diabetes and Digestive and Kidney Diseases
503:
National Institute of Diabetes and Digestive and Kidney Diseases
645:, Academic Press, New York, pp. 171, 1977. ASIN B000N5X2F2
374:
Outstanding Faculty Award, Mount Sinai School of Medicine, 1991
191:
354:
1745:
715:, Churchill Livingstone, Inc., New York, pp. 331, 1991.
662:
Desnick, R. J., Patterson, D. F. and Scarpelli, D. F., eds.:
501:
Porphyria Rare Disease Clinical Research Consortium (rdcrc),
2170:
325:
U.S. Public Health Service Fellowship in Genetics, 1968–1970
527:
National Institute of Child Health & Human Development
525:
Gene Therapy: Lysosomal Diseases With Mental Retardation,
2183:
Dr. Robert J. Desnick on the treatment of Fabry disease.
578:
Chaperone-based therapy for Niemann-Pick disease, (2010).
423:
2175:
1609:
1565:
509:
National Institute of Child Health and Human Development
219:
National Academies of Sciences, Engineering and Medicine
631:
The National Foundation, New York, pp. 236, 1973.
671:
Gaucher Disease: A Century of Delineation and Research
627:
Desnick, R. J., Bernlohr, R. W. and Krivit, W., eds.:
368:
361:
1947:
Mount Sinai School of Medicine of New York University
1821:
Mount Sinai School of Medicine of New York University
1799:
Mount Sinai School of Medicine of New York University
1777:
Mount Sinai School of Medicine of New York University
1751:
Mount Sinai School of Medicine of New York University
1729:
Mount Sinai School of Medicine of New York University
1703:
Mount Sinai School of Medicine of New York University
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Mount Sinai School of Medicine of New York University
1659:
Mount Sinai School of Medicine of New York University
1637:
Mount Sinai School of Medicine of New York University
1615:
Mount Sinai School of Medicine of New York University
1593:
Mount Sinai School of Medicine of New York University
1571:
Mount Sinai School of Medicine of New York University
1549:
Mount Sinai School of Medicine of New York University
1356:
1354:
669:
Desnick, R. J., Gatt, S. and Grabowski, G. A., eds.:
1793:
1587:
1543:
1176:"Alexion To Acquire To Strengthen Global Leadership"
673:, Alan R. Liss, Inc., New York, pp. 740, 1982.
652:, Alan R. Liss, Inc., New York, pp. 544, 1980.
383:
J. Lester Gabrilove Award for Medical Research, 2003
1198:"How Genzyme became a source of biotech executives"
697:Tada, K., Colombo, J. P. and Desnick, R. J., eds.:
507:Mental Retardation and Developmental Disabilities,
443:Lifetime Innovation & Achievement Award of the
415:Award for Excellence in Clinical Research from the
403:
American Association for the Advancement of Science
265:
American Association for the Advancement of Science
232:Desnick received his undergraduate degree from the
1697:
1631:
1351:
386:Jacobi Medal, Mount Sinai Alumni Association, 2004
1131:Investor Relations | Alnylam Pharmaceuticals, Inc
355:Japanese Society for Inherited Metabolic Diseases
167:type B, and the RNA Interference Therapy for the
2192:
2176:Icahn School of Medicine at Mount Sinai homepage
1815:
1771:
1675:
1653:
2221:Icahn School of Medicine at Mount Sinai faculty
2181:An infusion of hope for Fabry disease patients.
2041:
1500:NORD (National Organization for Rare Disorders)
1242:"National Organization for Rare Disorders, Inc"
699:Recent Advances in Inborn Errors of Metabolism.
1195:
664:Animal Models of Inherited Metabolic Diseases.
497:National Institute of General Medical Sciences
458:New York Intellectual Property Law Association
311:American School of Classical Studies in Athens
2231:University of Minnesota Medical School alumni
1941:
1723:
1080:
643:Molecular Genetic Modification of Eucaryotes
344:Research Career Development Award, 1975–1980
2216:Members of the National Academy of Medicine
257:American Society for Clinical Investigation
562:Methods for determining susceptibility to
29:
1342:
316:
1453:Medical School – University of Minnesota
1331:Journal of the National Cancer Institute
733:, Academic Press, pp. 1–360, 2001.
685:Assays of the Heme Biosynthetic Enzymes.
683:Bishop, D. F. and Desnick, R. J., eds.:
513:Porphyrias and Human Heme Biosynthesis,
431:Association of American Medical Colleges
296:Association of American Medical Colleges
2151:Icahn School of Medicine at Mount Sinai
2121:Icahn School of Medicine at Mount Sinai
2099:Icahn School of Medicine at Mount Sinai
2073:Icahn School of Medicine at Mount Sinai
2047:Icahn School of Medicine at Mount Sinai
2021:Icahn School of Medicine at Mount Sinai
1999:Icahn School of Medicine at Mount Sinai
1969:Icahn School of Medicine at Mount Sinai
1925:Icahn School of Medicine at Mount Sinai
1895:Icahn School of Medicine at Mount Sinai
1869:Icahn School of Medicine at Mount Sinai
1843:Icahn School of Medicine at Mount Sinai
1307:"Mount Sinai Hospital – Doctor profile"
465:National Organization for Rare Disorder
456:2013 Inventor of the Year Award of the
199:Icahn School of Medicine at Mount Sinai
2193:
1267:"New York Magazine: Best Doctors 2009"
417:National Center for Research Resources
393:University of Minnesota Medical School
336:University of Minnesota Medical School
328:Ross Award in Pediatric Research, 1972
277:National Center for Research Resources
238:University of Minnesota Medical School
66:University of Minnesota Medical School
1327:"Awards, Appointments, Announcements"
650:Enzyme Therapy in Genetic Diseases: 2
292:American College of Medical Genetics
159:(ERT) and the chaperone therapy for
1287:"Directory – Institute of Medicine"
1107:"The American Porphyria Foundation"
701:Karger, Basel, pp. 332, 1987.
556:Acid sphingomyelinase gene, (1998).
13:
288:American Board of Medical Genetics
286:Desnick is a past director of the
261:Association of American Physicians
14:
2242:
2171:The Mount Sinai Hospital homepage
2164:
263:. He is an elected Fellow of the
242:University of Minnesota Hospitals
1196:Robert Weisman (July 11, 2015).
395:Distinguished Alumni Award, 2004
301:
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2226:University of Minnesota alumni
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445:Lysosomal Disease Network, NIH
438:Mount Sinai School of Medicine
436:Faculty Council Senior Award,
424:New York State Medical Society
1:
1755:The Austin Research Institute
1222:"United States Patent Office"
1068:
713:Treatment of Genetic Diseases
480:Outstanding Achievement Award
429:Distinguished Service Award,
369:Societá Italiana di Pediatria
362:Societá Italiana di Pediatria
290:, a Founding Diplomat of the
281:National Institutes of Health
2147:Alnylam Pharmaceuticals Inc.
2095:Alnylam Pharmaceuticals Inc.
2069:Alnylam Pharmaceuticals Inc.
1995:Alnylam Pharmaceuticals Inc.
1921:Alnylam Pharmaceuticals Inc.
1707:Brigham and Women's Hospital
1449:"Distinguished Alumni Award"
1081:Katie Charles (2008-12-31).
1056:10.1161/STROKEAHA.109.558320
273:National Academy of Sciences
269:National Academy of Medicine
227:
7:
1010:Mol. Ther. 18:23–33, 2010.
10:
2247:
898:10.1016/j.ajhg.2007.10.002
532:
451:Genetic Disease Foundation
253:American Pediatric Society
157:enzyme replacement therapy
1425:"Alumni Award Recipients"
956:10.1007/s10545-009-1077-0
486:
174:He was the co-founder of
126:
116:
102:
95:
82:
71:
61:
53:
37:
28:
21:
1337:(22): 1658. 2004-11-17.
834:10.2217/14622416.8.7.721
621:
463:2017 Rare Impact Award,
169:Acute Hepatic Porphyrias
1344:10.1093/jnci/96.22.1658
687:Enzyme 28:1–232, 1982.
476:University of Minnesota
470:University of Minnesota
401:Elected Senior Fellow,
309:He is a Trustee of the
234:University of Minnesota
1005:10.1089/cell.2009.0077
920:10.1542/peds.2007-3016
778:10.1681/ASN.2006080816
360:Correspondent Member,
317:Fellowships and awards
76:translational research
1429:alumni.icahn.mssm.edu
914:122: e341-349, 2008.
760:10.1038/sj.mt.6300066
711:Desnick, R. J., ed.:
648:Desnick, R. J., ed.:
153:personalized medicine
87:E. Mead Johnson Award
2206:American geneticists
2187:, December 31, 2008.
1362:"ResearchCrossroads"
207:Mount Sinai Hospital
194:for $ 20.1 billion.
165:Niemann–Pick disease
121:Mount Sinai Hospital
2185:New York Daily News
1087:New York Daily News
1034:10.1038/mt.2009.250
1016:10.1038/mt.2009.220
725:Desnick, R. J. and
176:Amicus Therapeutics
16:American geneticist
1455:. 11 November 2014
938:10.1093/ndt/gfp031
892:82:495–500, 2008.
890:Am. J. Hum. Genet.
876:10.1002/prot.21755
870:71:855–873, 2008.
796:10.1002/humu.20524
332:C. J. Watson Award
1050:41: 78–81, 2010.
849:9:806–911, 2007.
828:8:721–730, 2007.
731:Tay–Sachs Disease
693:978-3-8055-3573-1
367:Honorary Member,
353:Honorary Member,
215:New York Magazine
133:Robert J. Desnick
130:
129:
97:Scientific career
91:
23:Robert J. Desnick
2238:
2159:
2158:
2157:
2153:
2139:
2133:
2132:
2131:
2127:
2113:
2107:
2106:
2105:
2101:
2087:
2081:
2080:
2079:
2075:
2061:
2055:
2054:
2053:
2049:
2039:
2033:
2032:
2031:
2027:
2013:
2007:
2006:
2005:
2001:
1987:
1981:
1980:
1979:
1975:
1961:
1955:
1954:
1953:
1949:
1939:
1933:
1932:
1931:
1927:
1913:
1907:
1906:
1905:
1901:
1887:
1881:
1880:
1879:
1875:
1861:
1855:
1854:
1853:
1849:
1835:
1829:
1828:
1827:
1823:
1813:
1807:
1806:
1805:
1801:
1791:
1785:
1784:
1783:
1779:
1769:
1763:
1762:
1761:
1757:
1743:
1737:
1736:
1735:
1731:
1721:
1715:
1714:
1713:
1709:
1695:
1689:
1688:
1687:
1683:
1673:
1667:
1666:
1665:
1661:
1651:
1645:
1644:
1643:
1639:
1629:
1623:
1622:
1621:
1617:
1607:
1601:
1600:
1599:
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1579:
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1573:
1563:
1557:
1556:
1555:
1551:
1541:
1535:
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1532:
1531:
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1492:
1486:
1485:
1483:
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1471:
1465:
1464:
1462:
1460:
1445:
1439:
1438:
1436:
1435:
1421:
1415:
1414:
1403:
1397:
1396:
1394:
1393:
1383:
1377:
1376:
1374:
1373:
1368:on July 27, 2011
1364:. Archived from
1358:
1349:
1348:
1346:
1323:
1317:
1316:
1314:
1313:
1303:
1297:
1296:
1294:
1293:
1283:
1277:
1276:
1274:
1273:
1263:
1257:
1256:
1254:
1253:
1244:. Archived from
1238:
1232:
1231:
1229:
1228:
1218:
1212:
1211:
1209:
1208:
1202:The Boston Globe
1193:
1187:
1186:
1184:
1182:
1172:
1166:
1165:
1163:
1162:
1153:. Archived from
1147:
1141:
1140:
1138:
1137:
1123:
1117:
1116:
1114:
1113:
1103:
1097:
1096:
1094:
1093:
1078:
855:10.1002/jgm.1074
826:Pharmacogenomics
408:Elected Member,
145:pharmacogenetics
137:human geneticist
89:
33:
19:
18:
2246:
2245:
2241:
2240:
2239:
2237:
2236:
2235:
2191:
2190:
2167:
2162:
2155:
2140:
2136:
2129:
2114:
2110:
2103:
2088:
2084:
2077:
2062:
2058:
2051:
2040:
2036:
2029:
2014:
2010:
2003:
1988:
1984:
1977:
1962:
1958:
1951:
1940:
1936:
1929:
1914:
1910:
1903:
1888:
1884:
1877:
1862:
1858:
1851:
1836:
1832:
1825:
1814:
1810:
1803:
1792:
1788:
1781:
1770:
1766:
1759:
1744:
1740:
1733:
1722:
1718:
1711:
1696:
1692:
1685:
1674:
1670:
1663:
1652:
1648:
1641:
1630:
1626:
1619:
1608:
1604:
1597:
1586:
1582:
1575:
1564:
1560:
1553:
1542:
1538:
1529:
1527:
1519:
1518:
1514:
1505:
1503:
1494:
1493:
1489:
1480:
1478:
1473:
1472:
1468:
1458:
1456:
1447:
1446:
1442:
1433:
1431:
1423:
1422:
1418:
1405:
1404:
1400:
1391:
1389:
1385:
1384:
1380:
1371:
1369:
1360:
1359:
1352:
1325:
1324:
1320:
1311:
1309:
1305:
1304:
1300:
1291:
1289:
1285:
1284:
1280:
1271:
1269:
1265:
1264:
1260:
1251:
1249:
1240:
1239:
1235:
1226:
1224:
1220:
1219:
1215:
1206:
1204:
1194:
1190:
1180:
1178:
1174:
1173:
1169:
1160:
1158:
1149:
1148:
1144:
1135:
1133:
1125:
1124:
1120:
1111:
1109:
1105:
1104:
1100:
1091:
1089:
1079:
1075:
1071:
813:10.1002/pd.1767
747:
624:
535:
489:
378:NIH MERIT Award
319:
304:
230:
182:BioPharma and
135:is an American
62:Alma mater
49:
24:
17:
12:
11:
5:
2244:
2234:
2233:
2228:
2223:
2218:
2213:
2208:
2203:
2189:
2188:
2178:
2173:
2166:
2165:External links
2163:
2161:
2160:
2134:
2108:
2082:
2056:
2034:
2008:
1982:
1956:
1934:
1908:
1882:
1856:
1830:
1808:
1786:
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1602:
1580:
1558:
1536:
1512:
1487:
1477:. 28 June 2013
1466:
1440:
1416:
1407:"Trustee List"
1398:
1378:
1350:
1318:
1298:
1278:
1258:
1233:
1213:
1188:
1167:
1142:
1118:
1098:
1072:
1070:
1067:
1066:
1065:
1043:
1025:
1007:
986:
976:
965:
947:
929:
907:
885:
864:
843:
822:
805:
787:
769:
749:Partial list:
746:
743:
742:
741:
723:
709:
695:
681:
667:
660:
646:
639:
623:
620:
619:
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612:
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606:
603:
600:
597:
594:
591:
588:
585:
582:
579:
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573:
570:
567:
564:lead poisoning
560:
557:
554:
551:
548:
545:
542:
539:
534:
531:
530:
529:
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517:
511:
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499:
491:Partial list:
488:
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434:
427:
420:
413:
406:
399:
396:
390:
387:
384:
381:
375:
372:
371:, Elected 1999
365:
364:, Elected 1991
358:
357:, Elected 1985
351:
345:
339:
329:
326:
321:Partial list:
318:
315:
303:
300:
229:
226:
128:
127:
124:
123:
118:
114:
113:
107:human genetics
104:
100:
99:
93:
92:
84:
80:
79:
73:
72:Known for
69:
68:
63:
59:
58:
55:
51:
50:
41:
39:
35:
34:
26:
25:
22:
15:
9:
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4:
3:
2:
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2222:
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2211:Living people
2209:
2207:
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2199:
2198:
2196:
2186:
2182:
2179:
2177:
2174:
2172:
2169:
2168:
2152:
2148:
2144:
2138:
2126:
2125:Genzyme Corp.
2122:
2118:
2112:
2100:
2096:
2092:
2086:
2074:
2070:
2066:
2060:
2048:
2044:
2038:
2026:
2025:Genzyme Corp.
2022:
2018:
2012:
2000:
1996:
1992:
1986:
1974:
1973:Genzyme Corp.
1970:
1966:
1960:
1948:
1944:
1938:
1926:
1922:
1918:
1912:
1900:
1899:Genzyme Corp.
1896:
1892:
1886:
1874:
1873:Genzyme Corp.
1870:
1866:
1860:
1848:
1847:Genzyme Corp.
1844:
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1818:
1812:
1800:
1796:
1790:
1778:
1774:
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1612:
1606:
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1367:
1363:
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1345:
1340:
1336:
1332:
1328:
1322:
1308:
1302:
1288:
1282:
1268:
1262:
1248:on 2009-07-25
1247:
1243:
1237:
1223:
1217:
1203:
1199:
1192:
1177:
1171:
1157:on 2018-09-06
1156:
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764:
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752:
751:
750:
740:
739:0-12-017644-0
736:
732:
728:
727:Kaback, M. M.
724:
722:
721:0-443-08773-3
718:
714:
710:
708:
707:3-8055-4772-2
704:
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696:
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690:
686:
682:
680:
679:0-8451-0095-5
676:
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658:0-8451-1035-7
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637:0-683-06367-7
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203:New York City
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161:Fabry disease
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44:
40:
36:
32:
27:
20:
2137:
2111:
2085:
2059:
2037:
2011:
1985:
1959:
1937:
1911:
1885:
1859:
1833:
1811:
1789:
1767:
1741:
1719:
1693:
1671:
1649:
1627:
1605:
1583:
1561:
1539:
1528:. Retrieved
1524:
1515:
1504:. Retrieved
1502:. 2017-03-15
1499:
1490:
1479:. Retrieved
1469:
1457:. Retrieved
1452:
1443:
1432:. Retrieved
1428:
1419:
1410:
1401:
1390:. Retrieved
1387:"MyNewsdesk"
1381:
1370:. Retrieved
1366:the original
1334:
1330:
1321:
1310:. Retrieved
1301:
1290:. Retrieved
1281:
1270:. Retrieved
1261:
1250:. Retrieved
1246:the original
1236:
1225:. Retrieved
1216:
1205:. Retrieved
1201:
1191:
1179:. Retrieved
1170:
1159:. Retrieved
1155:the original
1145:
1134:. Retrieved
1130:
1121:
1110:. Retrieved
1101:
1090:. Retrieved
1086:
1076:
1047:
911:
889:
867:
847:J. Gene Med.
846:
825:
748:
745:Publications
730:
712:
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320:
308:
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285:
250:
246:
231:
223:
211:
196:
173:
149:gene therapy
132:
131:
117:Institutions
96:
2201:1943 births
2143:US 11028392
2117:US 10188705
2091:US 10125364
2065:US 10119143
1525:cbs.umn.edu
419:, NIH, 2005
380:, 1992–2004
54:Nationality
43:Minneapolis
2195:Categories
2043:US 9994898
2017:US 9655954
1991:US 9631193
1965:US 9655954
1943:US 5639607
1917:US 9133461
1891:US 8709408
1865:US 8658162
1839:US 8349319
1817:US 7750050
1795:US 6583158
1773:US 6541218
1747:US 6455037
1725:US 5840578
1699:US 5830850
1677:US 5773278
1655:US 5686240
1633:US 5580757
1611:US 5491075
1589:US 5401650
1567:US 5382524
1545:US 5356804
1530:2019-03-13
1506:2019-03-13
1481:2019-03-13
1434:2019-03-13
1392:2010-03-01
1372:2010-03-01
1312:2015-04-09
1292:2010-03-01
1272:2010-03-01
1252:2010-03-01
1227:2010-03-01
1207:2021-05-05
1161:2018-09-05
1136:2020-08-11
1112:2010-03-01
1092:2010-03-01
1069:References
990:Fuster, V.
912:Pediatrics
259:, and the
163:, ERT for
2149: and
2123: and
2097: and
2071: and
2023: and
1997: and
1971: and
1923: and
1897: and
1871: and
1845: and
1753: and
1705: and
1459:April 29,
1181:3 January
566:, (1998).
279:from the
228:Biography
221:in 2004.
1063:20007919
1041:19861948
1023:19773742
998:20677926
974:19621417
963:19387866
945:19218538
927:18625664
905:18252229
883:18004775
868:Proteins
862:17654633
841:18240905
820:17533632
803:17464953
785:17409312
767:17191071
729:, eds.:
180:Synageva
141:genomics
111:genomics
57:American
984:1963669
533:Patents
271:of the
188:Genzyme
184:Kiniksa
2156:
2130:
2104:
2078:
2052:
2030:
2004:
1978:
1952:
1930:
1904:
1878:
1852:
1826:
1804:
1782:
1760:
1734:
1712:
1686:
1664:
1642:
1620:
1598:
1576:
1554:
1061:
1048:Stroke
1039:
1021:
996:
982:
972:
961:
943:
932:2009.
925:
903:
881:
860:
839:
818:
801:
783:
772:2007.
765:
737:
719:
705:
691:
677:
656:
635:
487:Grants
482:, 2019
460:, 2013
447:, 2013
440:, 2011
433:, 2010
426:, 2005
412:, 2004
405:, 2004
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338:, 1973
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