In the News
In this "Daily Check Up" feature from The Daily News, Dr. Desnick talks about treating genetic diseases.
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MD, Univ of Minnesota-Med Sch. Minneapo
Univ of Minnesota-Med Sch. Minneapo
Clinical Molecular Genetics
Clinical Biochemical Genetics
Genetics and Genomic Sciences [GGS]
Distingushed Service Award
Association of American Medical Colleges
Award for Excellence in Clinical Research
National Center for Research Resources, NIH
Albion O. Bernstein, MD Award for Contributions in Disease Prevention
New York State Medical Society
Institute of Medicine of the National Academy of Sciences
Mount Sinai Alumni Association
Edward H. Ahrens Jr. Award for Research
Association for Patient-Oriented Research
Distinguished Alumni Award
University of Minnesota Medical School
Doctor of Science, Honoris Causa
Mount Sinai School of Medicine of New York University
Elected Senior Fellow,
American Association for the Advancement of Science
J. Lester Gabrilove Award for Medical Research
New York Magazine
Societá Italiana di Pediatria
NIH MERIT Award
Outstanding Faculty Award
Mount Sinai School of Medicine
Societá Italiana di Pediatria
Japanese Society for Inherited Metabolic Diseases
E. Mead Johnson Award for Research in Pediatrics of the American Academy of Pediatrics
NIH Research Career Development Award
C.J. Watson Award, University of Minnesota
U.S. Public Health Service Fellowship in Genetics
Cuhna L, Kuti M, Bishop DF, Mezei M, Zeng L, Zhou MM, Desnick RJ. Human uroporphyrinogen III synthase: NMR-based mapping of the active site. Proteins 2005; 71: 855-873.
Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ. High incidence of later-onset Fabry disease revealed by newborn screening. Am. J. Hum. Genet 2006; 79: 31-40.
Shabbeer J, Yasuda M, Benson SD, Desnick RJ. Fabry disease: Identification of 50 novel a-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. Hum. Genomics 2006; 2: 297-309.
Bishop DF, Johansson A, Phelps R, Shady AA, Ramirez MM, Yasuda M, Caro A, Desnick RJ. Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype including the characteristic light-induced cutaneous lesions. Am. J. Hum. Genet 2006; 78: 645-658.
Banikazemi M, Bultas J, Waldek S, Wilcox W, Whitley C, McDonald M, Finkel R, Packman S, Bichet D, Warnock D, Brenner BM, Desnick RJ. Algalsidase-beta therapy for advanced Fabry disease: A randomized trial. Ann. Intern. Med 2007; 146: 77-86.
Germain DP, Waldek S, Banikazemi M, Bushinsky DA, Charrow J, Desnick RJ, Lee P, Loew T, Vedder AC, Abichandani R, Wilcox WR, Guffon N. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J. Am. Soc. Nephrol 2007; 18: 1547-1557.
Grace ME, Balwani M, Nazarenko I, Prakash-Cheng A, Desnick RJ. Type 1 Gaucher disease: Null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. Hum. Mut 2007; 28: 866-873.
Scott SA, Edelmann L, Kornreich R, Erazo M, Desnick RJ. CYP 2C9, 2C19, and 2D6 allele frequencies in the Ashkenazi Jewish population. Pharmacogenomics 2007; 8: 721-730.
Yasuda M, Domaradzki M, Bishop DF, Desnick RJ. Acute intermittent porphyria. Vector optimization for AAV-mediated gene therapy. J. Gene Med 2007; 9: 809-911.
Scott SA, Edelmann L, Kornreich R, Desnick RJ. Warfarin Pharmacogenetics: CYP2C9 and VKORC1 Genetypes Predict Different Sensitivity and Resistance Frequencies in the Ashkenazi and Sephardi Jewish Populations. Am. J. Hum. Genet 2008; 82: 495-500.
Bishop DF, Schneider-Yin X, Clavero S, Yoo HW, Minder EI, Desnick RJ. Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. Blood 2010 Feb; 115(5): 1062-1069.
Clavero S, Bishop DF, Haskins ME, Giger U, Kauppinen R, Desnick RJ. Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. Human molecular genetics 2010 Feb; 19(4): 584-896.
Yasuda M, Bishop DF, Fowkes M, Cheng SH, Gan L, Desnick RJ. AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria and improves neuromotor function. Molecular therapy : the journal of the American Society of Gene Therapy 2010 Jan; 18(1): 17-22.
Wozniak MA, Kittner SJ, Tuhrim S, Cole JW, Stern B, Dobbins M, Grace ME, 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. Stroke; a journal of cerebral circulation 2010 Jan; 41(1): 78-81.
Khanna R, Soska R, Lun Y, Feng J, Frascella M, Young B, Brignol N, Pellegrino L, Sitaraman SA, Desnick RJ, Benjamin ER, Lockhart DJ, Valenzano KJ. The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. Molecular therapy : the journal of the American Society of Gene Therapy 2010 Jan; 18(1): 23-33.
Balwani M, Fuerstman L, Kornreich R, Edelmann L, Desnick RJ. Type 1 Gaucher disease: significant disease manifestations in . Archives of internal medicine 2010 Sep; 170(16): 1463-1469.
Tukel T, Šošić D, Al-Gazali LI, Erazo M, Casasnovas J, Franco HL, Richardson JA, Olson EN, Cadilla CL, Desnick RJ. Homozygous nonsense mutations in TWIST2 cause Setleis syndrome. American journal of human genetics 2010 Aug; 87(2): 289-296.
Scott SA, Edelmann L, Liu L, Luo M, Desnick RJ, Kornreich R. Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Human mutation 2010 Nov; 31(11): 1240-1250.
Scott SA, Khasawneh R, Peter I, Kornreich R, Desnick RJ. Combined CYP2C9, VKORC1 and CYP4F2 frequencies among racial and ethnic groups. Pharmacogenomics 2010 Jun; 11(6): 781-791.
Clavero S, Bishop DF, Giger U, Haskins ME, Desnick RJ. Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. Molecular medicine (Cambridge, Mass.) 2010; 16(9-10): 381-388.
Marshall J, Ashe KM, Bangari D, McEachern K, Chuang WL, Pacheco J, Copeland DP, Desnick RJ, Shayman JA, Scheule RK, Cheng SH. Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease. PloS one 2010; 5(11): e15033.
Jaremko M, Kasai Y, Barginear MF, Raptis G, Desnick RJ, Yu C. Tamoxifen metabolite isomer separation and quantification by liquid chromatography-tandem mass spectrometry. Analytical chemistry 2010 Dec; 82(24): 10186-10193.
Wickliffe JK, Abdel-Rahman SZ, Lee C, Kormos-Hallberg C, Sood G, Rondelli CM, Grady JJ, Desnick RJ, Anderson KE. CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda. Molecular medicine (Cambridge, Mass.) 2011; 17(3-4): 241-247.
Scott SA, Martis S, Peter I, Kasai Y, Kornreich R, Desnick RJ. Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness. The pharmacogenomics journal 2011 Mar;.
Bishop DF, Clavero S, Mohandas N, Desnick RJ. Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes. Molecular medicine (Cambridge, Mass.) 2011; 17(7-8): 748-756.
Dobrovolny R, Nazarenko I, Kim J, Doheny D, Desnick RJ. Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease. Human mutation 2011 Jun; 32(6): 688-695.
Franco HL, Casasnovas JJ, Leon RG, Friesel R, Ge Y, Desnick RJ, Cadilla CL. Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin. The international journal of biochemistry & cell biology 2011 Oct; 43(10): 1523-1531.
Zhang J, Yasuda M, Desnick RJ, Balwani M, Bishop D, Yu C. A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2011 Aug; 879(24): 2389-2396.
Peter I, Mitchell AA, Ozelius L, Erazo M, Hu J, Doheny D, Abreu MT, Present DH, Ullman T, Benkov K, Korelitz BI, Mayer L, Desnick RJ. Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study. BMC medical genetics 2011; 12: 63.
Cervantes-Barragán DE, Villarroel CE, Medrano-Hernández A, Durán-McKinster C, Bosch-Canto V, Del-Castillo V, Nazarenko I, Yang A, Desnick RJ. Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification. Journal of medical genetics 2011 Oct; 48(10): 716-720.
Barginear MF, Jaremko M, Peter I, Yu C, Kasai Y, Kemeny M, Raptis G, Desnick RJ. Increasing tamoxifen dose in breast cancer patients based on CYP2D6 genotypes and endoxifen levels: effect on active metabolite isomers and the antiestrogenic activity score. Clinical pharmacology and therapeutics 2011 Oct; 90(4): 605-611.
Scott SA, Patel M, Martis S, Lubitz SA, van der Zee S, Yoo C, Edelmann L, Halperin JL, Desnick RJ. Copy number variation and warfarin dosing: evaluation of CYP2C9, VKORC1, CYP4F2, GGCX and CALU. Pharmacogenomics 2012 Feb; 13(3).
Clarification of Optimal Anticoagulation through Genetics (COAG)
Porphyria Rare Disease Clinical Research Consortium (RDCRC)
Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device and biotechnology companies to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their relationships with such companies.
Below are financial relationships with industry reported by Dr. Desnick during 2015 and/or 2016. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.
Other activities: Examples include, but are not limited to, committee participation, data safety monitoring board (DSMB) membership
Scientific Advisory Board:
Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.
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Information regarding insurance participation and billing by this physician may be found on this page, and can also be obtained by contacting this provider directly. Because physicians insurance participation can change, the insurance information on this page may not always be up-to-date. Please contact this physician directly to obtain the most up-to-date insurance information.
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