Odelya Hartung Kaufman, MD/PhD

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 early embryonic defects and their relationship to human infertility (such as unexplained female infertility and recurrent pregnancy loss). Odelya is also actively involved in national research efforts to better understand the genetic causes of patients with rare undiagnosed diseases through the Undiagnosed Disease Network.