Lysosomal Storage Disease (LSD) Center News and Updates

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Uncovering Lysosomal Storage Diseases Beyond Newborn Screening

Published on Dec 08, 2021 in Children's Doctor

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.

CHOP Researchers Use Base Editing in Preclinical Model to Correct Lethal Lysosomal Storage Disease Before Birth

Published on Jul 13, 2021 in CHOP News

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.