Jonathan Alevy, Johns Hopkins University, Baltimore, Maryland
Testing mutations in the TRPV4 gene for CMT2C
Jonathan Alevy is investigating how mutations in the TRPV4 (transient receptor potential vanilloid 4) gene disrupt neurovascular endothelial cells and contribute to CMT2C. His work is connected to ongoing efforts to develop TRPV4-targeted therapies in collaboration with Actio Biosciences, highlighting its translational potential. Using single-cell RNA sequencing in mutant mouse models, his project aims to identify changes in gene expression in neurovascular endothelial cells that could serve as biomarkers to monitor treatment efficacy for the ActioBio compound and reveal additional therapeutic targets. By studying how mutant TRPV4 affects endothelial cell function, the research could guide future clinical strategies and improve patient monitoring.
Receiving the CMTRF Emerging Researcher Award is an incredible honor. This recognition fuels my commitment to advancing discoveries that can improve the lives of patients with Charcot-Marie-Tooth disease. Our lab has shown that TRPV4 mutations disrupt blood–CNS barriers through their effects on neural vascular cells, leading to motor neuron degeneration. With the support of this award, I will build on that work by applying single-cell RNA sequencing to define how these cells drive disease, identify new therapeutic targets and explore potential biomarkers to guide future clincial trials.
