GLENOLDEN, PA — The Charcot-Marie-Tooth Association (CMTA) has announced a $300,000 investment in a groundbreaking gene editing project aimed at tackling CMT2A, the most common axonal type of Charcot-Marie-Tooth disease. The two-year effort, led by Dr. Bruce Conklin of Gladstone Institutes, harnesses cutting-edge CRISPR/Cas9 technology to develop a potential therapy targeting the genetic roots of the disease.
CMT2A arises from mutations in the MFN2 gene, with over 200 variants causing damage to peripheral nerve function. Current research suggests that silencing only the mutant copy of the MFN2 gene, while leaving the healthy copy intact, could restore nerve health. Dr. Conklin’s team is pioneering an innovative application of CRISPR that allows for a single therapeutic solution to address numerous mutations within the same gene, bypassing the need to individually target hundreds of variants.
“Gene editing technologies like CRISPR/Cas9 offer exciting 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.”
The research will utilize genetically engineered human cell lines that mimic various CMT2A-causing mutations. This careful setup allows the Conklin Lab to rigorously test the safety and effectiveness of gene editing in restoring normal nerve function.
“This project underscores CMTA-STAR’s commitment to accelerate bold and impactful research,” explained Katherine Forsey, PhD, Chief Research Officer at CMTA. “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 initiative is part of CMTA’s STAR (Strategy to Accelerate Research) program, a dedicated effort to fast-track treatments and improve outcomes for those living with Charcot-Marie-Tooth disease. With this investment, the association continues to drive progress in innovative therapies that bring hope to families and patients worldwide.
For the latest news on everything happening in Chester County and the surrounding area, be sure to follow MyChesCo on Google News and MSN.