Bruce D Gelb, MD
- PROFESSOR | Pediatrics, Cardiology
- PROFESSOR | Genetics and Genomic Sciences
- DIRECTOR MINDICH CHILD HEALTH AND DEVELOPMENT INSTITUTE
Specialties:Pediatrics, Pediatric Cardiology
Research Topics:Cardiovascular, Gene Discovery, Human Genetics and Genetic Disorders, Signal Transduction, Stem Cells, Transgenic Mice
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
- Noonan Syndrome
Multi-Disciplinary Training AreasBiophysics and Systems Pharmacology [BSP], Genetics and Genomic Sciences [GGS]
MD, Univ. of Rochester Sch. Med. & Den.
Residency, Pediatrics, Columbia-Presbyterian Medical Ctr.
Fellowship, Pediatric Cardiology, Texas Children's Hospital
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: Amy Kontorovich, Se-Yeon Lee
Predoctoral Students: Katie Landy, Felix Richter, Nelson Rodriguez, Carolyn Sommer
Research Personnel: Adolfo Aleman, Céline Guichard, Angelika Nitzl, Jian 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, 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.
- The Congenital Heart Disease Genetic Network Study (CHD GENES)
The goal of this study is to obtain a DNA sample and clinical information from individuals with congenital heart disease and their families in order to better understand the genetics of congenital heart disease.
- RASopathy registry for individuals with a diagnosis of a RASopathy and hypertrophic cardiomyopathy
The goal of this study is to observe and track disease progression in people with hypertrophic cardiomyopathy (HCM) due to a RASopathy syndrome.
Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA, Kim R, Bilguvar K, López-Giráldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi H, Vardarajan B, Ma L, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science (New York, N.Y.) 2015 Dec; 350(6265).
Mulero-Navarro S, Sevilla A, Roman AC, Lee DF, D'Souza SL, Pardo S, Riess I, Su J, Cohen N, Schaniel C, Rodriguez NA, Baccarini A, Brown BD, Cavé H, Caye A, Strullu M, Yalcin S, Park CY, Dhandapany PS, Yongchao G, Edelmann L, Bahieg S, Raynal P, Flex E, Tartaglia M, Moore KA, Lemischka IR, Gelb BD. Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia. Cell reports 2015 Oct;.
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).