The drug, omaveloxolone, is a once-a-day pill that will help improve neurological function and slow progression of the neurodegenerative disease.

Translational findings in new models of SURF1 mitochondrial disease also suggest that two drugs, already FDA-approved for other conditions, may prevent neurological decompensation in Leigh syndrome patients.

CHOP gene therapy expert Dr. Lindsey George reacts to a phase 3 hemophilia gene therapy study in an editorial in the New England Journal of Medicine.

Implementing a series of quality improvement measures in the emergency room increased the use of medical interpreters and led to better documentation of language needs.

Patients with this complex neurological disorder experience a wide variety of symptoms, which can be managed with early and proper diagnosis.

STXBP1-related disorders include gastrointestional and respiratory symptoms in certain patients, according to extensive interviews with caregivers.

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.

A new study used electronic health record data to identify risk factors associated with kidney function decline in those with pediatric chronic kidney disease.

Since infants rely on antibodies passed from mother to baby during pregnancy, the findings suggest a need for alternative strategies for boosting infant immunity in the event of an outbreak.

CHOP researchers have developed a custom-built application to automate determination of engraftment, a key outcome after hematopoietic stem cell transplant.