Professor, Department of Genetics
Professor, Department of Pediatrics (Cardiology)
Director, Division of Translational Genetics, Department of Genetics
Sidney L. and Miriam K. Olson Chair in Cardiology
Our goal is to identify the genes and genetic pathways involved in the development of organs and structures in mammalian embryos for future genetic testing and therapy. We are interested in early ear development, and embryologic formation of the palate and jaw, as well as the heart.
The lab uses human, mouse and zebrafish approaches. For the human research, we have obtained 1,000 DNA samples from individuals with velo-cardio-facial syndrome, also known as DiGeorge syndrome, a congenital anomaly disorder with variable presentations and medical findings. We hypothesize that DNA variations in genes alter risk for particular health problems in the patients. Genome-wide approaches have been used to identify genes that underlie risk for heart or palate structural defects and for low IQ. The mouse serves as a tool to understand the function of the genes identified. The zebrafish help in studying developmental processes in live organisms, because embryos grow outside the womb and they are transparent, so structures can be seen easily.
A main outcome of genetics research is the development of genetic testing as a screening or diagnostic tool for human disease. We have worked as a team with Montefiore Medical Center to develop or implement genetic testing. In addition, we hope our research will provide new insights into possible therapies in the future.
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Albert Einstein College of Medicine
Michael F. Price Center
1301 Morris Park Avenue , Room 402
Bronx, NY 10461