Bruce D Gelb, MD
- DIRECTOR MINDICH CHILD HEALTH AND DEVELOPMENT INSTITUTE
- PROFESSOR | Pediatrics, Cardiology
- PROFESSOR | Genetics and Genomic Sciences
Specialties:Pediatrics, Pediatric Cardiology
Research Topics:Cardiovascular, Gene Discovery, Human Genetics and Genetic Disorders, Signal Transduction, Stem Cells, Transgenic Mice
Dr. Bruce D. Gelb is the Gogel Family Chair and Director of The Mindich Child Health and Development Institute, Director of the Center for Molecular Cardiology, and Professor of Pediatrics and Genetics and Genomic Sciences. He is board certified in Pediatric Cardiology by the American Board of Pediatrics.
In his quest to discover what causes congenital heart disease, Dr. Gelb has developed an extensive program in genomics and gene investigation, focusing on traits associated with heart malformations.
An expert in Noonan syndrome, Dr. Gelb has studied the genetic origins of this disease to understand its pathogenesis. Noonan and related syndromes result from mutations in several genes that encode proteins that cells use to signal from the outer membrane to the nucleus. Dr. Gelb and colleagues examine whether stem cells generated from cultured skin cells malfunction, leading to developmental disorders, and whether it is possible to coax cellular development to function normally.
At The Mindich Child Health and Development Institute, Dr. Gelb has created a collaborative multidisciplinary research environment to advance translational research into prevalent diseases of childhood. The emphasis is on the application of genetics and genomics toward elucidating the causes of illness affecting infants, children, and adolescents. To maximize resources and the impact of investigation, four centers of research areas were initially identified: Allergy and Asthma, Cardiovascular Defects, Neurodevelopmental Disorders, and Obesity and Diabetes; more recently, the MCHDI has expanded its focus to include broader topics in children’s health.
Dr. Gelb is a distinguished recipient of the E. Mead Johnson Award from the Society for Pediatric Research and the Norman J. Siegel New Member Outstanding Science Award from the American Pediatric Society. He was elected to the National Academy of Medicine and the American Society of Clinical Investigation. In addition to his research, Dr. Gelb directs the Cardiovascular Genetics Program at Mount Sinai. He is the current President of the International Pediatric Research Foundation and a council member of the American Pediatric Society. After earning a medical degree from the University of Rochester Medical School in Rochester, New York, Dr. Gelb completed a pediatric residency and a pediatric cardiology fellowship at Babies Hospital of Columbia-Presbyterian Medical Center and Texas Children's Hospital at the Baylor College of Medicine, respectively. He joined the faculty at Mount Sinai in 1991.
Areas of Expertise
Cardiovascular Genetics, Heart Transplantation
Multi-Disciplinary Training AreasGenetics and Genomic Sciences [GGS], Pharmacology and Therapeutics Discovery [PTD]
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: 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.