Charcot-Marie-Tooth Association Invests $210K in Long-Read Sequencing to Accelerate Gene Discovery

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 (Principal Research Fellow, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology) “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.

Links

• CMTA
• Dr Cortese's UCL Profile

Source

• CMTA