RobertJDesnickMDPhD
Medical Genetics • New York, NYClinical Biochemical Genetics, Clinical Genetics, Clinical Molecular Genetics
Professor, Genetics & Genomic Sciences, Icahn School of Medicine
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Office
1 Gustave L Levy Pl
# 1498
New York, NY 10029Phone+1 212-659-6700Fax+1 212-360-1809
Education & Training
University of MinnesotaResidency, Pediatrics, 1972 - 1972- University of Minnesota Medical SchoolClass of 1972
- University of MinnesotaResidency, Pediatrics, 1971 - 1971
Certifications & Licensure
NY State Medical License 1977 - 2025
MN State Medical License 1973 - 2021- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Medical Genetics and Genomics Clinical Molecular Genetics and Genomics
Awards, Honors, & Recognition
- America's Top Doctors Castle Connolly, 2002-2014
- Top Doctors: New York Metro Area Castle Connolly, 2002-2014
- New York Magazine: Top Doctors Castle Connolly, 2002-2012
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Clinical Trials
- Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP) Start of enrollment: 2010 Apr 01
- Longitudinal Study of the Porphyrias Start of enrollment: 2010 Nov 01
- Clinical Diagnosis of Acute Porphyria Start of enrollment: 2011 Dec 01
Publications & Presentations
PubMed
- 34 citationsMucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidenc...Wei-Dong Jin, Christine E. Jackson, Robert J. Desnick, Edward H. Schuchman
American Journal of Human Genetics. 1992-04-01 - 61 citationsLoss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protopo...Manisha Balwani, Dana Doheny, David F. Bishop, Irina Nazarenko, Makiko Yasuda
Molecular Medicine. 2013-04-30 - 150 citationsAfamelanotide for Erythropoietic ProtoporphyriaJanneke G. Langendonk, Manisha Balwani, Karl E. Anderson, Herbert L. Bonkovsky, Alexander Vincent Anstey
The New England Journal of Medicine. 2015-07-01
Journal Articles
- The New York Pilot Newborn Screening Program for Lysosomal Storage Diseases: Report of the First 65,000 InfantsLissette Estrella, Chunli Yu, S Gabriel Kupchik, Sean M Bailey, Randi Wasserman, Ian Holzman, Suhas M Nafday, Robert J Desnick, Amy Yang, Nature
Press Mentions
Rare Disease Sufferers Fighting Both Their Condition and Federal BureaucracyJuly 11th, 2019
Health News - Mount Sinai Genetic Testing Laboratory Launches More Accurate Carrier Screening Test for Spinal Muscular AtrophyFebruary 10th, 2016
Patient Day Is Part of International Porphyrias Symposium 2023October 27th, 2023
Grant Support
- Research Training For Medical Geneticists At Mount Sinai School Of MedicineNational Institute Of General Medical Sciences2010–2011
- Porphyria RARE Disease Clinical Research Consortium (RDCRC)National Institute Of Diabetes And Digestive And Kidney Diseases2010–2011
- Porphyria And Human Heme BiosynthesisNational Institute Of Diabetes And Digestive And Kidney Diseases2010
- Porphyria RARE Disease Clinical Research Consortium (RDCRC)National Institute Of Diabetes And Digestive And Kidney Diseases2009
- Research Training For Medical Geneticists At Mount Sinai School Of MedicineNational Institute Of General Medical Sciences2008–2009
- Porphyria And Human Heme BiosynthesisNational Institute Of Diabetes And Digestive And Kidney Diseases2003–2007
- Mental Retardation And Developmental DisabilitiesEunice Kennedy Shriver National Institute Of Child Health &Human Development1996–2007
- Alpha-Galactosidases A &B: Molecular And Cellular MechanismsNational Center For Research Resources2004–2006
- Alpha Galactosidases A And B--Molecular And Cellular MechanismsNational Center For Research Resources1996–2002
- Porphyria And Heme BiosynthesisNational Institute Of Diabetes And Digestive And Kidney Diseases1997–2000
- Alpha-Galactosidases A, B--Molecular/Cellular MechanismNational Institute Of Diabetes And Digestive And Kidney Diseases1997–1999
- Gene Therapy: Lysosomal Diseases With Mental RetardationEunice Kennedy Shriver National Institute Of Child Health &Human Development1997–1999
- Gene Therapy--Lysosomal Diseases With Mental RetardationEunice Kennedy Shriver National Institute Of Child Health &Human Development1995–1996
- Phenotypic Heterogeneity, Treatment And Prevention Of Genetic DiseasesNational Center For Research Resources1994–1996
- Alpha-Galactosidases A &B--Molecule &Cell MechanismsNational Institute Of Diabetes And Digestive And Kidney Diseases1992–1996
- Alpha-Galactosidases A And B--Molecular And Cellular MechanismsNational Center For Research Resources1994–1995
- Genetic Testing In The Ashkenazi Jewish PopulationNational Human Genome Research Institute1993–1995
- Mental Retardation And Developmental DisabilitiesEunice Kennedy Shriver National Institute Of Child Health &Human Development1988–1995
- Ceredase Treatment Of Gaucher DiseaseNational Center For Research Resources1994
- Alpha-Galactosidases A &B: Molecule &Cell MechanismsNational Institute Of Diabetes And Digestive And Kidney Diseases1993
- Ashkenazi ScreeningNational Center For Research Resources1993
- Phenotype Heterogeneity, Treatment And Prevention Of Genetic DiseasesNational Center For Research Resources1992–1993
- Fabry Disease--Molecular And Model Therapeutic StudiesNational Center For Research Resources1992–1993
- Porphyria And Human Heme BiosynthesisNational Institute Of Diabetes And Digestive And Kidney Diseases1992
- Phenotype Heterogenity, Treatment And Prevention Of Genetic DiseasesNational Center For Research Resources1990–1991
- Fabry Disease: Molecular And Model Therapeutic StudiesNational Institute Of Diabetes And Digestive And Kidney Diseases1987–1991
- Studies Of Porphyria And Human Heme BiosynthesisNational Institute Of Diabetes And Digestive And Kidney Diseases1986–1991
- Comparison Of Chorion Villus Sampling And AmniocentesisEunice Kennedy Shriver National Institute Of Child Health &Human Development1985–1990
- Phenotype Heterogenity, Natural History, Treatment &Prevention Of Genetic DiseasNational Center For Research Resources1989
- Therapy Of Genetic DiseasesNational Center For Research Resources1985–1988
- Mental Retardation And Developmental Disabilities (NichdEunice Kennedy Shriver National Institute Of Child Health &Human Development1985–1987
- Fabry Disease: Molecular And Model Therapeutic StudiesNational Institute Of Diabetes And Digestive And Kidney Diseases1986
- Enzyme And Gene Therapy In Genetic DiseasesNational Center For Research Resources1985–1986
- Studies Of Porphyria And Human Heme BiosynthesisNat Inst Of Arthritis, Diabetes, Digestive &Kidney Diseases1985
- Fabry Disease: Molecular And Model Therapeutic StudiesNat Inst Of Arthritis, Diabetes, Digestive &Kidney Diseases1985
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