I am physician scientist active both in basic research and clinical practice. My research interests are to 1) uncover the genetic and epigenetic bases of neurodevelopmental disorders or rare diseases with neurodevelopmental defects; 2) model genetic diseases using human patients derived cellular models and genetic mutant mice; 3) understand the circuit and molecular mechanisms underlying autism spectrum disorder; 4) develop novel molecular and epigenetic targeted therapies for genetic and epigenetic diseases. My clinical expertise is on clinical and biochemical genetics of rare and undiagnosed diseases in children and adult. I am Director of Yale NORD Center of Excellence and Principal Investigator of Yale Diagnostic Center of Excellence for Undiagnosed Diseases-NIH Undiagnosed Disease Network Phase III
The objective of my research is to define genetic, cellular, molecular, and circuit mechanisms for dysfunctional social and reward behavior with the ultimate goal of discovering novel, therapeutic drug targets for treatment of neuropsychiatric disorders.
Odelya Kaufman, MD, PhD, is a Clinical Geneticist and Associate Research Scientist in the Department of Genetics at Yale School of Medicine. Odelya attended a combined medical school and graduate program at the Albert Einstein College of Medicine (Bronx, NY) where her PhD studies focused on the functions of RNA binding proteins in ovary development. She subsequently completed her medical residency in Pediatrics and Medical Genetics at Mount Sinai Hospital (New York, NY) where she also participated in research to uncover genetic causes for critically ill infants in the NICU. Odelya’s clinical expertise is in the diagnosis and management of children and adults with genetic conditions, including various birth defects, developmental disabilities, and pediatric hearing loss or blindness. Odelya’s research efforts are focused on expanding our understanding of the genetic mechanisms leading to...
My research interest is to understand neural processing at both the developmental stage and adulthood in health and disease. In particular, I am interested in identifying the molecular and cellular mechanisms responsible for the neural connections in the CNS.