Charcot-Marie-Tooth disease (CMT) is the most common inherited neuromuscular disorder, affecting the peripheral nerves that control movement and sensation. People with CMT develop progressive muscle weakness, loss of feeling, and difficulty walking. Despite advances in genetic diagnosis, there are still no effective drug treatments.

During my PhD, I co-led the discovery of a new genetic cause of CMT involving a gene called ARHGAP19. This gene is part of a wider cellular signalling system known as the RhoA pathway, which plays a key role in maintaining the structure and function of nerves. Increasing evidence suggests that disruption of this pathway is involved in several forms of CMT.

In my previous fellowship, I identified drug candidates that improve disease features in a fruit fly model of ARHGAP19-related neuropathy. My current work aims to build on these findings by testing these compounds in patient-derived cells, including skin cells (fibroblasts) and motor neurons, and by studying their effects in Schwann cells, which are essential for supporting and insulating nerves. I will also investigate other regulators of the RhoA pathway to understand how changes in this pathway contribute to nerve damage across different forms of CMT.

By linking genetic discovery with drug testing and pathway-based research, this work aims to move closer to developing treatments for CMT and related nerve disorders.