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 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.