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Robert Desnick, MD, Medical Genetics, New York, NY

RobertJDesnickMDPhD

Medical Genetics • New York, NY

Clinical 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 10029
    Phone+1 212-659-6700
    Fax+1 212-360-1809

Education & Training

  • University of Minnesota
    University of MinnesotaResidency, Pediatrics, 1972 - 1972
  • University of Minnesota Medical School
    University of Minnesota Medical SchoolClass of 1972
  • University of Minnesota
    University of MinnesotaResidency, Pediatrics, 1971 - 1971

Certifications & Licensure

  • NY State Medical License
    NY State Medical License 1977 - 2025
  • MN State Medical License
    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

Publications & Presentations

PubMed

Journal Articles

  • The New York Pilot Newborn Screening Program for Lysosomal Storage Diseases: Report of the First 65,000 Infants  
    Lissette Estrella, Chunli Yu, S Gabriel Kupchik, Sean M Bailey, Randi Wasserman, Ian Holzman, Suhas M Nafday, Robert J Desnick, Amy Yang, Nature

Press Mentions

  • What Are We Learning About the Porphyrias from This Study?
    What Are We Learning About the Porphyrias from This Study?December 17th, 2024
  • Rare Disease Sufferers Fighting Both Their Condition and Federal Bureaucracy
    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 Atrophy
    Health News - Mount Sinai Genetic Testing Laboratory Launches More Accurate Carrier Screening Test for Spinal Muscular AtrophyFebruary 10th, 2016
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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

Dr. Robert Desnick, Dr. Robert Desnick, MD, Dr. R Desnick, Dr. Robert J Desnick