Renowned European geneticist bringing expertise to CMTA as new adviser
Scientist aims to help advance new treatments for CMT, jump-start trials
Written by |
A renowned European scientist whose early research led to the discovery of more than 100 genes linked to Charcot-Marie-Tooth disease (CMT) is joining the Charcot-Marie-Tooth Association (CMTA) as a member of its scientific advisory board, the nonprofit announced.
Belgian geneticist Vincent Timmerman, PhD, will bring his expertise in advanced human cell models to the CMTA, aiming to better predict which experimental therapies for CMT are most likely to work in patients and move into clinical trials. On the advisory board, Timmerman will help CMTA’s Strategy To Accelerate Research (CMT-STAR) drive this work forward and, hopefully, the organization said in a press release, get new treatments to patients.
The CMTA noted that Timmerman, who leads a research group at the University of Antwerp in Belgium, helped discover the genetic cause of CMT type 1A (CMT1A), paving the way for today’s efforts to develop gene-targeted therapies.
“Dr. Timmerman’s work bridges the full arc of CMT research — from the first gene discoveries to advanced human disease models,” said Katherine Forsey, PhD, the CMTA’s chief research officer. “That perspective is exactly what CMTA-STAR is built around. He will help us sharpen how we prioritize and advance therapies, accelerating the path from biological insight to clinical trials.”
CMT is caused by genetic mutations that damage peripheral nerves, those outside the brain and spinal cord that control movement and sensation in the arms and legs. Different types of CMT are grouped based on the mutated gene, as well as by symptoms, the patient’s age at onset, the disease’s severity, and the type of peripheral nerve damage seen.
Scientist’s team discovered genetic cause of CMT’s most common type
In 1991, Timmerman and his team discovered that a duplication, or extra copy, of a gene called PMP22 causes CMT1A, the most common type of CMT. This finding jump-started the discovery of more than 130 genes associated with CMT and paved the way for therapies that target specific genes.
Today, Timmerman’s research focuses on building human models of CMT in the lab. He and his team are using induced pluripotent stem cells, which are adult cells taken from patients that can be reprogrammed to behave like stem cells again. Stem cells are immature cells that can develop into many different types of cells.
He and his colleagues use these stem cells to grow human nerve and muscle cells in the lab. The goal is to form connections similar to the nerve-muscle links that become damaged in CMT. These advanced human cell models help researchers better understand how the disease develops and how potential therapies may work.
Timmerman is also closely connected to the international CMT scientific community, serving as president of the European CMT Research Association. He has helped organize European CMT conferences, cochaired the 2025 scientific program of the Peripheral Nerve Society, and is on the board of the Belgian Society for Neuroscience.
“Collaboration is essential in CMT, and CMTA fosters that collaboration by bringing together scientists, clinicians, and patients to move research from the lab into clinical trials,” Timmerman said. “This approach reflects how I believe progress in CMT needs to happen. I look forward to contributing to the Scientific Advisory Board.”