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Rare Disease

Cell and Gene Therapy Stories Lead Our Most Popular of 2023

Published on
Dec 28, 2023
in Cornerstone Blog
Most Popular Stories of 2023
These six stories received the highest number of engagements on CHOP Research social media channels in 2023.

Molecular Mechanisms of TBCK Syndrome: Q&A With Diversity Fellow Kristen Navarro, PhD

Published on
Nov 17, 2023
in Cornerstone Blog
Q&A With Diversity Fellow Kristen Navarro, PhD
Kristen Navarro, PhD, discusses her definition of diversity in science, her research on rare diseases, and her cat, Caramel.

National Academy of Medicine Elects Christopher Forrest, MD, PhD

Published on
Oct 9, 2023
in Cornerstone Blog
NAM Elects Christopher Forrest, MD, PhD
NAM Recognizes Christopher Forrest, MD, PhD, for advancing large-scale pediatric research networks.

Hartwell Foundation Funds Innovative Projects for Two CHOP Researchers

Published on
Aug 8, 2023
in Cornerstone Blog
Hartwell Foundation Funds Innovative Projects
Two CHOP researchers receive the Individual Biomedical Research Award from the Hartwell Foundation, which will fund early-stage, innovative projects.

CureARS, Pigment Production, TBCK

Published on
Oct 14, 2022
in Cornerstone Blog
In the News
Read the latest findings and new grants from Children’s Hospital of Philadelphia researchers.

DTX401 Gene Therapy in Glycogen Storage Disease (GSD) Type Ia

DTX401 Gene Therapy in Glycogen Storage Disease (GSD) Type Ia

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)

3D Printing in a Pandemic: Turning CHOP Into a Next-Gen Hospital

Published on
Apr 21, 2022
in Cornerstone Blog
3D Printing in a Pandemic: Turning CHOP Into a Next-Gen Hospital
CHOP engineers are researching how to optimize point-of-care manufacturing within hospitals to save lives while staying safe and compliant.

MRSA, EoE Clinical Trial, Rare Disease, Exploring the Hypothalamus

Published on
Nov 26, 2021
in Cornerstone Blog
MRSA, EoE Clinical Trial, Rare Disease, Exploring the Hypothalamus
Learn about novel findings and new funding from our Children’s Hospital of Philadelphia researchers.

HM15136 for the Treatment of Congenital Hyperinsulinism Research Study

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).

Could Improved Mitochondrial Function Affect Pediatric Neurodegeneration?

Published on
Oct 21, 2021
in Cornerstone Blog
TBCK-patient derived fibroblasts
Findings support lysosomal acidification strategies for pediatric neurodegenerative disorders with impaired mitochondrial quality control.