Rare Disease | CHOP Research Institute
 

Rare Disease

Cornerstone Blog

Excellence Award, Orphan Drug Designation, Imaging Technique, Coordinated Asthma Care

Published on
Nov 22, 2024
Excellence Award, Rare Disease, Orthopedic Ultrasound
Congratulations to physician scientist Dr. Yael Mosse, who received a Penn Medicine Award of Excellence for her contributions to pediatric oncology, and more.
Cornerstone Blog

Advances in Gene Therapy, Novel Nanopore Technology, Concussion Science

Published on
Sep 27, 2024
Advances in Gene Therapy, Novel Nanopore Technology
Symposium highlights AAV gene therapy best practices for children, CHOP researchers develop novel nanopore platform, and more In the News
Cornerstone Blog

Youth Mental Health, Predicting CKD Progression, Improved Rare Disease Diagnosis

Published on
Aug 2, 2024
In the News: Improved Rare Disease Diagnosis, Mental Health
CHOP researchers study the effect of high-stress neighborhoods on mental health and the implications of improved rare disease diagnosis.
Cornerstone Blog

Meet Balin, a CHOP Research Hero Building a FAVA Community

Published on
Jul 23, 2024
Balin
16-year-old Balin is an active advocate for research and treatment of fibro-adipose vascular anomaly.
Cornerstone Blog

Cell and Gene Therapy Stories Lead Our Most Popular of 2023

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

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

Published on
Nov 17, 2023
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.
Cornerstone Blog

National Academy of Medicine Elects Christopher Forrest, MD, PhD

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

Hartwell Foundation Funds Innovative Projects for Two CHOP Researchers

Published on
Aug 8, 2023
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.
Cornerstone Blog

CureARS, Pigment Production, TBCK

Published on
Oct 14, 2022
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)