At the Pediatric Genomics Discovery Program (PGDP) at Yale, we offer patients and their families with potential undiagnosed genetic diseases an opportunity to be evaluated by a team of physician-researchers specializing in genetics. 

Roughly one in 30 babies born in the United States each year has a genetic condition. These conditions can range from abnormal limbs, to a permanently weakened heart, to an overly curved spine. In some cases, a medical team might be able to identify, at a cellular level, the exact cause of a condition. In other cases, however, the cause of a child's disease remains unclear even after extensive evaluation and testing. The PGDP strives to provide answers for families with undiagnosed genetic diseases.