1p36 Duplication: Ten Miracle Years


My name is Leah and my son’s name is Tylor.  Tylor was born with 1p36 duplication. He is 20,000 base pairs away from any others on record to-date. He is case one of one and we have recently celebrated 10 amazing years with my little […]

Rare Disease Research at the Center for Applied Genomics at CHOP


Discovering the genetic variants that cause rare disease are essential to delivering better diagnoses, improved treatments, and preventive medicine. The most accurate and cost-effective method of achieving this goal is to sequence the genomes of affected patients, as well as their first-degree relatives. At the […]