1p36 Duplication: Ten Miracle Years

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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

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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 […]