Two doctors examine a patient's chart

In the Pediatric Genomics Discovery Program at Yale Medicine, we don’t like to leave medical mysteries unresolved. We have a dedicated team of clinicians and researchers who specialize in genetics ready to answer the questions and concerns that you may have about your child.

About 1 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. For example, we know that a baby born with sickle-cell disease suffers from a genetic mutation that affects blood cells. In many 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 the information such 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

PGDP is a partnership between Yale New Haven Children’s Hospital and Yale Medicine and offers patients and their families an opportunity be thoroughly examined by a team of physician-researchers in order to uncover the genetic cause of a rare or undiscovered disease.