The Charcot-Marie-Tooth Association (CMTA) continues its mission to accelerate research that impacts the lives of those living with Charcot-Marie-Tooth disease (CMT) and is excited to share progress in a CRISPR research project focused on developing gene editing strategies for CMT1A and CMT1B, two of the most common types of CMT. This project, which received more than $500,000 in funding, illustrates CMTA’s global leadership in accelerating innovative research to bring treatments to CMT.
Led by John Svaren, PhD, at the University of Wisconsin, this research is part of a larger initiative involving collaboration with CMTA Scientific Advisory Board members Maurizio D’Antonio, PhD, at the San Raffaele Scientific Institute in Milan, Italy, and Bruce Conklin, MD, at Gladstone Institutes in San Francisco, CA. The project explores cutting-edge gene editing techniques using CRISPR technology to target the gene mutations responsible for CMT1A and CMT1B.
In the initial phase of this project, the research team focused on identifying benign mutations in the PMP22 and MPZ genes—mutations that occur naturally in over 10% of the human population. By analyzing genetic sequencing data from large public databases such as GNOMAD and 1000Genomes, the team identified more than 140 common and harmless mutations in each gene. These mutations are crucial for distinguishing between the normal and mutated copies of the genes, allowing CRISPR editing to target only the defective version while leaving the normal one intact.
The next research phase will involve designing CRISPR gene editing reagents using these common mutations and testing their effectiveness in human pluripotent stem cells. The goal is to cut out the mutated copy of the gene while preserving the normal copy, a critical step towards developing a viable treatment. Simultaneously, the team is working with a CMT1B model, designing and testing CRISPR reagents to evaluate the potential of this gene editing approach to reverse the disease.
“This project marks a crucial step in our journey to develop precise, gene-targeted therapies for CMT1A and CMT1B,” said Dr. Svaren. “Utilizing CRISPR technology in combination with extensive genetic data allows us to explore novel treatment avenues that could fundamentally alter the progression of these diseases and potentially offer solutions for other forms of CMT.”
CMTA’s Chief Research Officer, Katherine Forsey, PhD, highlighted the transformative potential of this work: “This CMTA-STAR research project could redefine how we approach the treatment of CMT1A and CMT1B, offering a targeted strategy that directly addresses the genetic abnormalities causing these types of CMT. It exemplifies CMTA’s dedication to pushing the boundaries of science and innovation, bringing us closer to our mission of eliminating CMT.”
CMTA remains committed to keeping the CMT community informed and engaged as the research progresses. The promising developments in this project highlight CMTA’s ongoing efforts to turn groundbreaking research into treatments, bringing hope to those living with CMT.
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