The Charcot-Marie-Tooth Association (CMTA) announces a $90,860 investment in a new imaging research project at UC San Diego to study how MFN2 mutations drive CMT2A progression. This CMTA Strategy To Accelerate Research (CMTA-STAR) project will equip scientists with tools to accelerate the development of potential treatments for CMT2A and other axonal forms of CMT.
Investigating CMT2A at the Cellular Level
CMT2A is the most common axonal form of CMT, caused by MFN2 mutations that disrupt cellular transport in peripheral nerves. These disruptions lead to nerve degeneration, progressive weakness, and sensory loss, with symptoms often beginning in early childhood.
Led by Uri Manor, PhD, Assistant Professor in the Department of Cell & Developmental Biology at UC San Diego, this two-year study will use deep learning-based microscopy to track cellular defects in CMT2A. The research will focus on high-resolution imaging assays that measure organelle movement in CMT2A patient-derived neurons and a genetically engineered animal model carrying the MFN2 R364W mutation.
Advancing Research with Cutting-Edge AI
By directly visualizing how potential therapies affect these key CMT2A models, the study aims to develop a rapid screening system for identifying promising treatment candidates.
“Our research is designed to uncover the cellular mechanisms underlying CMT2A and lay the groundwork for targeted therapeutic strategies,” said Dr. Manor. “By leveraging advanced imaging tools and artificial intelligence-driven microscopy, we aim to develop a platform for identifying disease-related defects and screening potential therapies.”
These imaging techniques could also help researchers investigate other axonal forms of CMT, offering broader applications for drug development.
“Understanding how MFN2 mutations disrupt cellular transport in CMT2A is a critical piece of the puzzle,” said Katherine Forsey, PhD, CMTA’s Chief Research Officer. “CMTA-STAR provides scientists with the resources to develop tools that visualize these disruptions and support them in identifying potential therapeutic targets. Dr. Manor’s imaging approach could open new avenues for treatment development for CMT2A, and once established, the approach could be replicated for other axonal types of CMT.”
Together, We Drive Progress
The generosity and participation of our community drive CMTA-STAR’s impact. This research is 100% funded by donors who believe in a future without CMT and is made possible by those who participate in CMT research. Every breakthrough, clinical study, and scientific discovery depends on those who step forward. Your support accelerates research, drives treatment development, and brings hope to everyone with CMT.
Register With Patients as Partners in Research Today
Not yet registered with CMTA’s Patients as Partners in Research? Sign up today to be among the first to learn about new CMT research opportunities for which you may be eligible. Registration also ensures you receive updates on the latest research news and developments.
Registration is free, and everyone with CMT is invited to participate.
Create Your Patients as Partners in Research Profile
Published on: March 18, 2025