The Charcot-Marie-Tooth Association (CMTA) is investing $300,000 in a groundbreaking gene editing research project at Gladstone Institutes to develop a CRISPR-based therapy for CMT2A. This CMTA Strategy To Accelerate Research (CMTA-STAR) initiative aims to create a single solution for multiple MFN2 mutations, paving the way for future genetic therapies for CMT.
Targeting CMT2A at the Genetic Level
CMT2A, the most common axonal form of CMT, is caused by mutations in the MFN2 gene. In CMT2A, one copy of the MFN2 gene has a mutation, while the other copy remains normal. Current research suggests that silencing (turning off) only the mutated copy could restore peripheral nerve health, making gene editing an encouraging approach for treatment.
Led by Bruce Conklin, MD, CMTA-STAR Advisory Board Member and researcher at the Gladstone Institutes, this study will use CRISPR/Cas9 technology to selectively silence the mutated MFN2 gene copy while preserving the normal one. Unlike traditional CRISPR genetic therapies, requiring a separate approach for correcting each unique gene mutation (more than 200 unique MFN2 gene mutations each cause CMT2A), this approach aims to target the gene at its source, offering a potential one-size-fits-many solution.
Accelerating Gene Editing for CMT
“Gene editing technologies like CRISPR/Cas9 offer encouraging possibilities for treating CMT at its source,” said Dr. Conklin. “This project provides a blueprint for therapeutic editing of most dominant forms of CMT, and our goal is to overcome critical technical barriers, including efficiently screening thousands of CRISPR designs and validating their effectiveness in human neurons.”
CMTA-STAR: Driving Genetic Therapy Research Forward
The study will use engineered human cell lines carrying different CMT2A-causing MFN2 mutations. This controlled environment allows the team to test CRISPR’s safety and effectiveness in restoring normal nerve function.
“This project underscores CMTA-STAR’s commitment to accelerate bold and impactful research,” said Katherine Forsey, PhD, CMTA’s Chief Research Officer. “By investing in these MFN2 gene editing strategies, we’re addressing the unmet needs of individuals with CMT2A while laying the foundation for therapies that could benefit many other CMT subtypes. The potential of this work to reshape treatment options underscores the power of innovative science.”
Together, We Drive Progress
The generosity and participation of our community drive CMTA-STAR’s impact. This research is 100% funded by donors who believe in a future without CMT and is made possible by those who participate in CMT research. Every breakthrough, clinical study, and scientific discovery depends on those who step forward. Your support accelerates research, drives treatment development, and brings hope to everyone with CMT.
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Published on: March 25, 2025