Your child will have access to experienced metabolic physicians, nurse practitioners, genetic counselors, neuropsychologists and social workers who coordinate and manage their care. We are available 24/7 to answer any questions you may have.
Aug 1, 2023
A Penn Medicine and CHOP team will seek to develop treatments for three rare, incurable genetic diseases with the help of a $26 million grant from the National Institutes of Health.
Dec 8, 2021
Jaden was a 4-year-old who presented to his PCP’s office with a persistent cough following an upper respiratory infection. Parents reported Jaden also had easy bruising, a symptom they had also noted after he had started walking.
Jul 13, 2021
In a proof-of-concept study, CHOP researchers used a vector to edit a single base mutation in Hurler Syndrome, halting progression of a disease that causes irreversible damage before birth.