Robert J Desnick MD PhD
Clinical Biochemical Genetics, Clinical Genetics, Clinical Molecular Genetics
Professor, Genetics & Genomic Sciences, Icahn School of Medicine
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1 Gustave L Levy Pl# 1498New York, NY 10029
Phone+1 212-659-6700
Fax+1 212-360-1809
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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
- Liver involvement in a large cohort of patients with erythropoietic protoporphyria or X-linked protoporphyria.Cynthia Levy, Hetanshi Naik, Jessica Overbey, Karli Hedstrom, Kelly Wang
Hepatology Communications. 2025-03-01 - Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype.Adel Shalata, Ann Saada, Mohammed Mahroum, Yarin Hadid, Chaya Furman
Human Genomics. 2025-02-28 - Noncanonical role of ALAS1 as a heme-independent inhibitor of small RNA-mediated silencing.Seungjae Lee, Sangmi Lee, Robert Desnick, Makiko Yasuda, Eric C Lai
Science. 2024-12-20
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
What Are We Learning About the Porphyrias from This Study?December 17th, 2024
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- Join now to see all
Grant Support
- Porphyrias ConsortiumICAHN SCHOOL OF MEDICINE AT MOUNT SINAI2009–2025
- Porphyrias ConsortiumICAHN SCHOOL OF MEDICINE AT MOUNT SINAI2009–2025
- Research Training For Medical Geneticists At Mount Sinai School Of MedicineNational Institute Of General Medical Sciences2010–2011
- Porphyria And Human Heme BiosynthesisNational Institute Of Diabetes And Digestive And Kidney Diseases2010
- 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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