Lysosomal Storage Disease (LSD) Center News and Updates

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NIH Awards Penn Medicine and Children’s Hospital of Philadelphia $26 Million Grant to Develop Therapies for Rare Newborn Genetic Diseases

Published on Aug 01, 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.

Uncovering Lysosomal Storage Diseases Beyond Newborn Screening

Published on Dec 08, 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.

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

Published on 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.