Bruce D Gelb, MD
img_Bruce D Gelb
PROFESSOR | Pediatrics, Cardiology
PROFESSOR | Genetics and Genomic Sciences
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Pediatrics, Pediatric Cardiology
Research Topics
Cardiovascular, Gene Discovery, Human Genetics and Genetic Disorders, Pediatrics, Signal Transduction, Stem Cells, Transgenic Mice
Multi-Disciplinary Training Area
Development Regeneration and Stem Cells [DRS], Genetics and Genomic Sciences [GGS]

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

Genetic Counselor: Meghan Mac Neal

Postdoctoral Fellows: Se-Yeon Lee, Kathryn Manheimer

Predoctoral Students: Felix Richter, Nelson Rodriguez

Research Personnel: Jian Zhang, Simon Ng, Jared Gatto, Tara Keshavarz, Yahaira Mendez

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, SOS2, 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. This is being done with next generation sequencing approaches, both whole exome and genome sequencing. Ongoing biologic studies focus on disease modeling using induced pluripotent stem cells, including creating mutations or correcting them with CRISPR technology. We are also studying disease genes and performing drug discovery in Drosophila melanogaster.

MD, University of Rochester School of Medicine/Dentistry

Residency, Pediatrics, Columbia Presbyterian Medical Center

Fellowship, Pediatric Cardiology, Texas Children's Hospital


American Board of Pediatrics


Best Doctors

New York Magazine


Best Doctors

New York Magazine


Best Doctors

New York Magazine


Selected Publications

Association of genetic and sulcal traits with executive function in congenital heart disease. Lara Maleyeff, Jane W. Newburger, David Wypij, Nina H. Thomas, Evdokia Anagnoustou, Martina Brueckner, Wendy K. Chung, John Cleveland, Sean Cunningham, Bruce D. Gelb, Elizabeth Goldmuntz, Donald J. Hagler, Hao Huang, Eileen King, Patrick McQuillen, Thomas A. Miller, Ami Norris-Brilliant, George A. Porter, Amy E. Roberts, P. Ellen Grant, Kiho Im, Sarah U. Morton. Annals of Clinical and Translational Neurology

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. Dong Li, Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch, Gijs van Haaften, Leslie Granger, Andrea K. Petersen, Luis A. Pérez-Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hancarova, Sarka Bendova, Martin Schwarz, Radka Kremlikova Pourova, Zdenek Sedlacek, Beth A. Keena, Michael E. March, Cuiping Hou, Nora O’Connor, Elizabeth J. Bhoj, Margaret H. Harr, Gabrielle Lemire, Kym M. Boycott, Meghan Towne, Megan Li, Mark Tarnopolsky, Lauren Brady, Michael J. Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina Cooper, Timothy J. Maarup, Melissa Byler, Robert Roger Lebel, Tugce B. Balci, Raymond Louie, Michael Lyons, Jessica Douglas, Catherine Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M. Maas, Mahdi M. Motazacker, Julian A. Martinez-Agosto, Ahna M. Rabani, Elizabeth M. McCormick, Marni J. Falk, Sarah M. Ruggiero, Ingo Helbig, Rikke S. Møller, Lino Tessarollo, Francesco Tomassoni Ardori, Mary Ellen Palko, Tzung Chien Hsieh, Peter M. Krawitz, Mythily Ganapathi, Bruce D. Gelb, Vaidehi Jobanputra, Ashley Wilson, John Greally, Sébastien Jacquemont, Khadijé Jizi, Ange Line Bruel, Chloé Quelin, Vinod K. Misra, Erika Chick, Corrado Romano, Donatella Greco, Alessia Arena, Manuela Morleo, Vincenzo Nigro, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Ryoji Taira, Katsuya Tashiro, Yasunari Sakai, Gökhan Yigit, Bernd Wollnik, Michael Wagner, Barbara Kutsche, Anna C.E. Hurst, Michelle L. Thompson, Ryan Schmidt, Linda Randolph, Rebecca C. Spillmann, Vandana Shashi, Edward J. Higginbotham, Dawn Cordeiro, Amanda Carnevale, Gregory Costain, Tayyaba Khan, Benoît Funalot, Frederic Tran Mau-Them, Luis Fernandez Garcia Moya, Sixto García-Miñaúr, Matthew Osmond, Lauren Chad, Nada Quercia, Diana Carrasco, Chumei Li, Amarilis Sanchez-Valle, Meghan Kelley, Mathilde Nizon, Brynjar O. Jensson, Patrick Sulem, Kari Stefansson, Svetlana Gorokhova, Tiffany Busa, Marlène Rio, Hamza Hadj Habdallah, Marion Lesieur-Sebellin, Jeanne Amiel, Véronique Pingault, Sandra Mercier, Marie Vincent, Christophe Philippe, Clemence Fatus-Fauconnier, Kathryn Friend, Rebecca K. Halligan, Sunita Biswas, Jane Rosser, Cheryl Shoubridge, Mark Corbett, Christopher Barnett, Jozef Gecz, Kathleen Leppig, Anne Slavotinek, Carlo Marcelis, Rolph Pfundt, Bert B.A. de Vries, Marjon A. van Slegtenhorst, Alice S. Brooks, Benjamin Cogne, Thomas Rambaud, Zeynep Tümer, Elaine H. Zackai, Naiara Akizu, Yuanquan Song, Hakon Hakonarson. Journal of Clinical Investigation

Feeder-free generation and characterization of endocardial and cardiac valve cells from human pluripotent stem cells. Clifford Z. Liu, Aditi Prasad, Bharati Jadhav, Yu Liu, Mingxia Gu, Andrew J. Sharp, Bruce D. Gelb. iScience

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Bruce Gelb, MD
Cardiovascular Genetics Program

Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device, biotechnology companies, and other outside entities 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 outside financial relationships.

Below are financial relationships with industry reported by Dr. Gelb during 2023 and/or 2024. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.

Board Service

  • American Society of Human Genetics

Consulting or Other Professional Services: Examples include, but are not limited to, committee participation, data safety monitoring board (DSMB) membership

  • Stephen J. Pokiniewski, Esq.
  • Baker, Donelson, Bearman, Caldwell & Berkowitz
  • Medquest
  • Day One Biopharmaceuticals
  • Biomarin Pharmaceutical
  • Jon L. Norinsberg, J.D.
  • Stamos & Trucco, LLP
  • Aavanti

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.