GLENOLDEN, PA — The Charcot-Marie-Tooth Association (CMTA) has announced a $90,860 investment in a groundbreaking two-year research project at the University of California, San Diego (UC San Diego). Led by Dr. Uri Manor, the study aims to uncover the cellular mechanisms of Charcot-Marie-Tooth type 2A (CMT2A) and create advanced tools to speed up drug development.
CMT2A, the most prevalent axonal form of CMT, stems from MFN2 gene mutations that disrupt the cellular transport critical for nerve function. This disruption leads to nerve degeneration and progressive symptoms, typically beginning in childhood. The research will utilize high-resolution imaging powered by artificial intelligence and deep learning-based microscopy to analyze these cellular defects.
The study involves developing imaging assays to observe organelle movement in patient-derived neurons and a genetically engineered animal model with the MFN2 R364W mutation. These assays will allow researchers to directly evaluate the effects of therapeutic compounds on CMT2A.
“Our research is designed to uncover the cellular mechanisms underlying CMT2A and lay the groundwork for targeted therapeutic strategies,” said Dr. Manor. “By leveraging cutting-edge imaging tools and artificial intelligence-driven microscopy, we aim to develop a platform for identifying disease-related defects and screening potential therapies. This work has the potential to reshape CMT research and open new possibilities for future treatments.”
Katherine Forsey, PhD, Chief Research Officer at CMTA, emphasized the importance of this work within the organization’s Strategy To Accelerate Research (STAR) program. “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. CMTA is proud to support research that moves us closer to real treatment solutions across the CMT community.”
This investment represents a significant step forward in advancing treatment options for individuals affected by CMT2A, offering hope for innovative therapeutic strategies to address the disease.
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