CHOP and Penn researchers have developed a proof-of-concept model for delivering gene editing tools to treat blood disorders directly within the body.

The study captured genetic variants at extremely low levels, and dozens of patients began new therapies as a result of the findings.

Collaboration among CHOP, Alex’s Lemonade Stand Foundation, the Pacific Pediatric Neuro-Oncology Consortium, and Children’s Brain Tumor Network paves the way for new collaborative models to accelerate discoveries.

CHOP researchers will develop gene therapies for multiple sulfatase deficiency, a devastating lysosomal storage disorder, with the goal of first-in-human trials.

The disorder was identified in 21 patients with neurodevelopmental and craniofacial symptoms; causal gene may be a valuable therapeutic target.

Findings demonstrate how a new computational method could effectively analyze phenotypes and identify similarities among patient populations.

A $25 million gift from an anonymous donor to Penn Medicine and Children’s Hospital of Philadelphia (CHOP) will establish the Center for Epilepsy and Neurodevelopmental Disorders (ENDD), accelerating collaborative research in genetic therapies for neurodevelopmental disorders.

This novel method uses fruit flies and zebra fish to validate the function behind a gene associated with sleep regulation and may be a target for studies on sleeping disorders.