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Rare Diseases
1 - 5 of
5
Cornerstone Blog
In Landmark Study, CHOP-Penn Team Treats Newborn With Base-Editing Therapy
Published on
May 15, 2025
The landmark study paves the way for researchers to customize the technology and treat other individual patients with genetic diseases caused by ultra-rare “N-of-1” variants.
Cornerstone Blog
CHOP-Penn Team Fast-tracking Gene Therapies to Treat Rare Metabolic Diseases
Published on
Jan 15, 2025
Researchers are creating a platform to help fast-track personalized gene-editing therapies for patients with urea cycle disorders.
Cornerstone Blog
Can a New Computational Tool Discover and Quantify RNA Molecules More Accurately?
Published on
Mar 23, 2023
Researchers in the Center for Computational and Genomic Medicine developed a new tool to read RNA more accurately.
Cornerstone Blog
Enhancing Young Learners’ Knowledge of Rare Diseases
Published on
Feb 28, 2023
Denise Adams, MD, participated in an FDA-hosted panel discussion about improving young medical professionals’ understanding of rare diseases.
Cornerstone Blog
Is Lifelong Immunoglobulin Replacement Therapy Cost-Effective to Treat Agammaglobulinemia?
Published on
Jan 5, 2022
Researchers evaluated whether the standard treatment for a rare disease called agammaglobulinemia is cost-effective in the United States.