Rare Diseases | CHOP Research Institute
 

Rare Diseases

sunRIZE Study: RZ358 Clinical Trial for Hyperinsulinism

This clinical trial is for patients with congenital hyperinsulinism (HI) who are experiencing low blood sugar on their current treatment.

Cornerstone Blog

CHOP Researchers Pioneer Gene Therapy to Treat XLSA in a Preclinical Model

Published on
Jan 14, 2025
CHOP Researchers Pioneer Gene Therapy to Treat XLSA
In a preclinical model, the team reversed symptoms of X-linked sideroblastic anemia, a rare disorder.
Cornerstone Blog

Neuroblastoma Targets, Pediatric Scientist Development Program, Genetic Epilepsy

Published on
Aug 16, 2024
Neuroblastoma Targets, Pediatric Scientist Development Program
Two CHOP fellows join the Pediatric Scientist Development Program, AI offers timely diagnosis of genetic epilepsies, and more in this week’s news.
Cornerstone Blog

CHOP Researchers Improving Metachromatic Leukodystrophy Diagnostics and Care

Published on
Jun 13, 2024
DNA strand
At CHOP’s Leukodystrophy Center, researchers are aiming to reduce the length of the prolonged diagnostic odyssey that many patients with MLD encounter.

Skeletal Health and Diseases Research Affinity Group

Skeletal Health and Diseases RAG

Promoting and fostering new research ventures and collaborations among our community of basic and translational investigators, clinician-scientists, and clinicians with shared interests in skeletal health and diseases