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Pediatric Genomics Discovery Program (PGDP)

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 are born in the U.S. each year with genetic conditions. 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 trace the exact cause of a condition to a cellular level. In other cases, however, the cause of a child's disease remains unclear even after extensive evaluation and testing. 

Our Approach

Our program welcomes physician referrals on behalf of their patients as well as self-referrals from families searching for information about genetic causes for their child’s illness. Once we receive a referral, we will review such information as details of the medical history and prior testing results. Based on this information, we will decide the next step, which may include a clinic visit, further testing, or possible suggestions for referral to a research coordinator for clinical trial enrollment.