Photo of Bruce D. Gelb

Bruce D. Gelb

  • DIRECTOR CHILD HEALTH AND DEVELOPMENT INSTITUTE
  • PROFESSOR Pediatrics, Cardiology
  • PROFESSOR Genetics and Genomic Sciences
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Clinical Focus

Education

  • MD, Univ. of Rochester Sch. Med. & Den.

  • Residency, Pediatrics
    Columbia-Presbyterian Medical Ctr.

  • Fellowship, Pediatric Cardiology
    Texas Children's Hospital

Biography

    Dr. Gelb is board certified in Pediatric Cardiology by the American Board of Pediatrics. He is also the Director of Mount Sinai's Center for Molecular Cardiology.

    Areas of Expertise
    Cardiovascular Genetics, Heart Transplantation

Awards

  • 2010 -
    Best Doctors
    New York Magazine

Research

Specific Clinical/Research Interests:
Genetics of congenital heart defects; Noonan syndrome and related disorders; Gain-of-function RAS signaling

Postdoctoral Fellows: Dhandapany Perundurai, Constance Weismann, Sherly Pardo, Sonia Mulero

Research Personnel: Kimihiko Oishi, Jiang Zhang, Bobby Faigen, Jessica Hamaker, Mehran Sourian

Summary of Research Studies:
The Gelb research group is focused on disease gene discovery using positional cloning/candidacy techniques and characterization of the biological roles of such genes in disease pathogenesis. The focus of the laboratory currently is on those traits that are associated with heart malformations. In the past few years, we have identified disease genes for Char and Noonan syndromes. The former is TFAP2B, which encodes a transcription factor of the AP-2 family, and the latter are PTPN11, KRAS, SOS1, and RAF1. We are studying the roles of these disease genes in normal developmental and homeostatic processes as well as in disease pathogenesis. We are actively studying additional human genetic traits, both simple and complex, to identify additional disease genes with a particular focus on traits with cardiovascular abnormalities. After recruiting families of adequate size inheriting disorders, we undertake genome-wide scans with polymorphic DNA markers to identify genetic loci t! hrough linkage analysis, and then identify disease genes from among known or predicted genes residing in disease loci. The latter relies heavily on bioinformatics, including several software packages that predict genes and protein function. Ongoing biologic studies include site-directed mutagenesis, expression of wild type and mutant proteins in vitro and in eukaryotic cell culture, immunolocalization of proteins, creation of transgenic mice, and phenotyping of mouse models. We are also studying disease genes in other model organisms such as Drosophila melanogaster. Finally, we are studying induced pluripotent stem cells (iPS) derived from skin fibroblasts from patients with Noonan syndrome and other RAS signaling disorders.

Publications

Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, Lopez Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nature Genet 2007; 39: 1007-1012.

Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JL, Digilio MC, Zampino G, Dallapiccola B, Bar-Sagi D, Gelb BD. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nature Genet 2007; 39: 75-79.

Oishi K, Gaengel K, Krishnamoorthy S, Kamiya K, Kim I, Ying H, Weber U, Perkins L, Tartaglia M, Mlodzik M, Pick L, Gelb BD. Transgenic Drosophila models of Noonan syndrome-causing PTPN11 gain-of-function mutations. Hum Molec Genet 2006; 15: 543-553.

Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Hahlen K, Hasle H, Jung A, Licht JD, Gelb BD. Somatic PTPN11 mutations in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet 2003 Jun; 34(2): 148-150.

Oishi K, Hofmann S, Diaz GA, Brown T, Manwani D, Ng L, Young R, Vlassara H, Ioannou YA, Forrest D, Gelb BD. Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice. Hum Mol Genet 2002 Nov; 11(23): 2951-2960.

Industry Relationships

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. Gelb during 2012 and/or 2013. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.

Consulting:

  • RTI International

Royalty Payments:

  • Correlagen Diagnostics, Inc.; GeneDx; Pfizer Inc.; PreventionGenetics

Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website at http://icahn.mssm.edu/about-us/services-and-resources/faculty-resources/handbooks-and-policies/faculty-handbook. Patients may wish to ask their physician about the activities they perform for companies.

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Languages:
  • Chinese (Other)
  • Spanish
  • Indian (Hindi)
  • Korean
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Insurance Plans
  • 1199 National Benefit Fund
  • Aetna U.S. Healthcare
  • Aetna U.S. Healthcare - HMO
  • Anthem Health
  • Beech Street
  • Blue Choice
  • Blue Cross/ Blue Shield
  • CarePlus, LLC
  • CenterCare, Inc.
  • Child Health Plus
  • Cigna
  • Devon Health Services
  • Empire Blue Cross/ Blue Shield - HMO
  • Empire Blue Cross/Blue Shield
  • Fidelis Care NY
  • First Health
  • Group Health Insurance, Inc.
  • Health Insurance Plan (HIP)
  • Healthfirst
  • Healthnet-Empire BCBS
  • Horizon Healthcare
  • Medicaid
  • Medicaid New Jersey
  • Medicare
  • MetroPlus Health Plan
  • Neighborhood Health Providers, LLC
  • Oxford Health Plans
  • Oxford Health Plans - HMO
  • Private Healthcare Systems (PHCS)
  • Prucare
  • United Health Care Empire Plan
  • United Healthcare
  • Vytra
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