Rare Disease | CHOP Research Institute

Rare Disease

Published on
Dec 28, 2023
These six stories received the highest number of engagements on CHOP Research social media channels in 2023.
Published on
Nov 17, 2023
Kristen Navarro, PhD, discusses her definition of diversity in science, her research on rare diseases, and her cat, Caramel.
Published on
Oct 9, 2023
NAM Recognizes Christopher Forrest, MD, PhD, for advancing large-scale pediatric research networks.
Published on
Aug 8, 2023
Two CHOP researchers receive the Individual Biomedical Research Award from the Hartwell Foundation, which will fund early-stage, innovative projects.
Published on
Oct 14, 2022
Read the latest findings and new grants from Children’s Hospital of Philadelphia researchers.

Our team at the Congenital Hyperinsulinism Center at CHOP is working on a research study to determine whether an experimental gene therapy product, DTX401, is safe and effective in people with glycogen storage disease type Ia (GSDIa)

Published on
Apr 21, 2022
CHOP engineers are researching how to optimize point-of-care manufacturing within hospitals to save lives while staying safe and compliant.
Published on
Nov 26, 2021
Learn about novel findings and new funding from our Children’s Hospital of Philadelphia researchers.

The purpose of this study is to look at the safety and tolerability (how well you will react) of the study drug (HM15136) and to determine if it is effective for the treatment of Congenital Hyperinsulinism (HI).

Published on
Oct 21, 2021
Findings support lysosomal acidification strategies for pediatric neurodegenerative disorders with impaired mitochondrial quality control.