About: Robert J. Desnick

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Robert J. Desnick, Ph.D., M.D., D.Sc. (Hon) 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 disease, Niemann–Pick disease type B, and RNA Interference Therapy for the . 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 Committees (SAC) of Synageva BioPharma and Pharmaceuticals. The enzyme therapy developed in his laboratory and licensed to Genzyme as Fabrazyme, along with Cerazyme for

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rdf:type	Thing foaf:Person person dul:NaturalPerson Eukaryote Person Human Animal yago:WikicatAmericanGeneticists animal eukaryote scientist species schema:Person yago:WikicatLivingPeople Scientist yago:Biologist109855630 yago:CausalAgent100007347 yago:Geneticist110126424 yago:LivingThing100004258 yago:Object100002684 yago:Organism100004475 yago:Person100007846 yago:PhysicalEntity100001930 yago:YagoLegalActor yago:YagoLegalActorGeo yago:Scientist110560637 yago:Whole100003553
rdfs:label	Robert J. Desnick (en)
rdfs:comment	Robert J. Desnick, Ph.D., M.D., D.Sc. (Hon) 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 disease, Niemann–Pick disease type B, and RNA Interference Therapy for the . 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 Committees (SAC) of Synageva BioPharma and Pharmaceuticals. The enzyme therapy developed in his laboratory and licensed to Genzyme as Fabrazyme, along with Cerazyme for (en)
foaf:name	Robert J. Desnick, Ph.D., M.D. (en)
name	Robert J. Desnick, Ph.D., M.D. (en)
foaf:depiction
birth place	Minneapolis Minnesota
birth place	Minneapolis Minnesota
dcterms:subject	Living people 1943 births American geneticists Members of the National Academy of Medicine University of Minnesota alumni University of Minnesota Medical School alumni Icahn School of Medicine at Mount Sinai faculty
Wikipage page ID	26392270 (xsd:integer)
Wikipage revision ID	1118658703 (xsd:integer)
Link from a Wikipage to another Wikipage	American Board of Medical Specialties American Pediatric Society American Society for Clinical Investigation Sanofi Enzyme replacement therapy United States University of Minnesota University of Minnesota Medical Center University of Minnesota Medical School Valentin Fuster E. Mead Johnson Award Daily News (New York) Living people Gene therapy National Organization for Rare Disorders Genomics Genzyme Minneapolis Minnesota Michael Kaback 1943 births American geneticists Members of the National Academy of Medicine University of Minnesota alumni Lead poisoning American Association for the Advancement of Science Amicus Therapeutics Fabry disease American College of Medical Genetics Niemann–Pick disease Translational research Association of American Medical Colleges University of Minnesota Medical School alumni Icahn School of Medicine at Mount Sinai faculty Association of American Physicians Human genetics Icahn School of Medicine at Mount Sinai National Academy of Medicine National Institute of Diabetes and Digestive and Kidney Diseases National Institutes of Health National Institutes of Health MERIT Award New York (magazine) New York City New York Intellectual Property Law Association Pharmacogenetics National Center for Research Resources National Institute of General Medical Sciences Icahn School of Medicine Synageva Personalized medicine Mount Sinai Hospital, New York American School of Classical Studies in Athens National Institute of Child Health and Human Development National Academies of Sciences, Engineering and Medicine

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