- PROFESSOR Pediatrics, Cardiology
- PROFESSOR Genetics and Genomic Sciences
- DIRECTOR MINDICH CHILD HEALTH AND DEVELOPMENT INSTITUTE
- Noonan Syndrome
MD, Univ. of Rochester Sch. Med. & Den.
Columbia-Presbyterian Medical Ctr.
Fellowship, Pediatric Cardiology
Texas Children's Hospital
- 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
New York Magazine
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
Instructor of Pediatrics: Dhandapany Perundurai
Predoctoral Students: Katie Landy, Nelson Rodriguez, Sally Salari
Research Personnel: Céline 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.
Glessner JT, Bick AG, Ito K, Homsy JG, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman J, Hakonarson H, Chung WK. Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circulation research 2014 Oct; 115(10).
Edwards JJ, Martinelli S, Pannone L, Lo IF, Shi L, Edelmann L, Tartaglia M, Luk HM, Gelb BD. A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. American journal of medical genetics. Part A 2014 Sep; 164A(9).
Josowitz R, Lu J, Falce C, D'Souza SL, Wu M, Cohen N, Dubois NC, Zhao Y, Sobie EA, Fishman GI, Gelb BD. Identification and purification of human induced pluripotent stem cell-derived atrial-like cardiomyocytes based on sarcolipin expression. PloS one 2014 Jul; 9(7).
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).
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).
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).
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).
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 2014 and/or 2015. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.
- RTI International
- Correlagen Diagnostics, Inc.; GeneDx; Pfizer Inc.; PreventionGenetics
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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