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Bruce D. Gelb

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

Assistant Professors: Sonia Mulero-Navaro, Laura Murillo

Genetic Counselor: Meghan Mac Neal

Postdoctoral Fellow: Dhandapany Perundurai

Predoctoral Students: Katie Landy, Nelson Rodriguez, Sally Salari

Research Personnel: CĂ©line Guichard, Melanie Williams, Jiang Zhang


Summary of Research Studies:

The Gelb research group is focused on disease gene discovery using genomic 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, 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 include PTPN11, KRAS, SOS1, RAF1 and SHOC2. 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. 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 and performing drug discovery in other model organisms such as Drosophila melanogaster. Finally, we are studying induced pluripotent stem cells (iPS) derived from skin fibroblasts from patients with RAS signaling disorders and congenital heart disease.

Publications

Dhandapany PS, Razzaque MA, Muthusami U, Kunnoth S, Edwards JJ, Mulero-Navarro S, Riess I, Pardo S, Sheng J, Rani DS, Rani B, Govindaraj P, Flex E, Yokota T, Furutani M, Nishizawa T, Nakanishi T, Robbins J, Limongelli G, Hajjar RJ, Lebeche D, Bahl A, Khullar M, Rathinavel A, Sadler KC, Tartaglia M, Matsuoka R, Thangaraj K, Gelb BD. RAF1 mutations in childhood-onset dilated cardiomyopathy. Nature genetics 2014 Jun; 46(6).

Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia MJ, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Lopez A, Mane SM, Mitchell LE, Newburger JW, Parfenov M, Pe'er I, Porter G, Roberts AE, Sachidanandam R, Sanders SJ, Seiden HS, State MW, Subramanian S, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao H, Seidman JG, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman CE, Lifton RP. De novo mutations in histone-modifying genes in congenital heart disease. Nature 2013 Jun; 498(7453).

Carey AS, Liang L, Edwards J, Brandt T, Mei H, Sharp AJ, Hsu DT, Newburger JW, Ohye RG, Chung WK, Russell MW, Rosenfeld JA, Shaffer LG, Parides MK, Edelmann L, Gelb BD. Effect of copy number variants on outcomes for infants with single ventricle heart defects. Circulation. Cardiovascular genetics 2013 Oct; 6(5).

Carvajal-Vergara X, Sevilla A, D'Souza SL, Ang YS, Schaniel C, Lee DF, Yang L, Kaplan AD, Adler ED, Rozov R, Ge Y, Cohen N, Edelmann LJ, Chang B, Waghray A, Su J, Pardo S, Lichtenbelt KD, Tartaglia M, Gelb BD, Lemischka IR. Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. Nature 2010 Jun; 465(7299).

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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  • CenterCare, Inc.
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  • Group Health Insurance, Inc.
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