In the Pediatric Genomics Discovery Program (PGDP) at Yale, we offer patients and their families an opportunity to be thoroughly examined by a team of physician-researchers specializing in genetics who are ready to answer questions and work to uncover the genetic cause of rare or undiscovered disease.
Approximately one in 33 babies are born in the U.S. each year with birth defects. These can range from a permanently weakened heart to an overly curved spine. In some cases, a medical care 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.