CNMuscle

Centronuclear myopathy (CNM) is a rare form of inherited diseases caused by mutations in the following genes: MTM1, DNM2, BIN1, RYR1, TTN or SPEG. The diversity of mutations carried by individual patient brings challenges in developing a common therapy strategy for CNM patients. Currently, gene therapy approaches for CNM involve replacing disease-causing genes or functional compensation through related genes. In this regard, the innovative use of CRISPR-base editors opens new possibilities for precise mutation correction. The goal of this project is to create a 3D CNM muscle platform for efficacy and safety evaluation of precise mutation correction ex vivo by base editing, to bridge its initial tests in cells and final patient application with information at patient tissue level.