Odelya Hartung Kaufman, MD, PhD

Odelya Kaufman, MD, PhD, is a clinical geneticist specializing in the diagnosis and management of genetic conditions in both children and adults. Her expertise encompasses a wide range of genetic disorders, including developmental disabilities, autism spectrum disorder, craniofacial anomalies, inherited eye disorders, hearing loss, and congenital birth defects.

Dr. Kaufman was drawn to the field of medical genetics because of its position at the cutting edge of scientific and technological advancements, offering hope to individuals with rare genetic conditions. She is deeply committed to guiding families through the diagnostic journey, helping them navigate complex genetic conditions with clarity and compassion.

In addition to her clinical practice, Dr. Kaufman is an associate research scientist in the Department of Genetics at Yale School of Medicine. Her research focuses on uncovering the genetic mechanisms underlying early embryonic defects and their link to human infertility, including unexplained female infertility and recurrent pregnancy loss. She is also a key member of the Yale team leading national research initiatives through the Undiagnosed Disease Network, working to identify the genetic causes of rare and undiagnosed diseases.

Dr. Kaufman earned both her medical and doctoral degrees from Albert Einstein College of Medicine, where her research focused on the roles of RNA binding proteins in ovary development. She then completed her residency in pediatrics and medical genetics at Mount Sinai Hospital, where she also investigated the genetic causes of critical illnesses in infants.