Today, the Charcot-Marie-Tooth Association (CMTA) announced a $210,000 investment to advance gene discovery and improve diagnostic success for people with Charcot-Marie-Tooth disease (CMT). Led by Andrea Cortese, MD, PhD, at University College London, this new CMTA Strategy To Accelerate Research (CMTA-STAR) initiative will apply long-read genome sequencing to search for hidden genetic causes of CMT.
As many as 50% of people with axonal forms of CMT still lack a confirmed genetic diagnosis, leaving them without clear answers and stuck on a diagnostic odyssey. This CMTA-STAR project will apply advanced long-read sequencing technology to uncover complex genetic mutations that traditional testing may miss, helping more people get the answers they deserve.
“Despite advances in genetic testing, many people with CMT still don’t have a genetic diagnosis,” said Dr. Cortese. “With CMTA’s support, we hope to close this diagnostic gap and open the door to future research participation and potential treatment opportunities for these patients.”
Long-read sequencing makes it possible to detect complex mutations, structural variants, and other challenging genetic changes that are difficult to identify with standard methods. By applying this technology to CMT, Dr. Cortese and his team aim to increase diagnostic success and expand the tools available for CMT genetic testing worldwide.
“This CMTA-STAR project demonstrates our commitment to addressing the needs of a significant portion of the CMT community who remain without a genetic diagnosis,” said Katherine Forsey, PhD, CMTA Chief Research Officer. “By investing in advanced long-read sequencing technology and supporting a global network of researchers through this collaborative project, we’re empowering the CMT community with answers they deserve.”
With this latest investment, CMTA continues its mission to advance research, drive gene discovery, and bring answers to families affected by CMT.
Participate in CMT Research
CMTA’s Patients as Partners in Research program seeks community members who still don’t have a confirmed genetic diagnosis. Click the Participate in Research button below to learn how you can help drive gene discovery and accelerate CMT research.
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Together, We Drive Progress
The generosity and participation of the CMT community power CMTA-STAR’s impact. Every breakthrough, from gene discovery to clinical trials, is made possible by community donors and our patient partners who believe in a future without CMT.
Your support accelerates research, drives treatment development, and brings hope to everyone with CMT.
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Not yet registered with CMTA’s Patients as Partners in Research? Sign up today to be among the first to learn about new research opportunities and stay informed about the latest developments in CMT research.
Registration is free, and everyone with CMT is invited to participate.
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Published on: April 22, 2025