Congenital muscular dystrophies (CMD) are a group of rare, highly disabling neuromuscular diseases that reduce life expectancy. Rapid developments in advanced therapies including gene editing are revolutionizing the therapeutic horizon for patients with rare diseases, with the goal of improving their quality of life. But the percentage of preclinical studies that translate into effective therapies approved by regulatory agencies is still very low.

Researchers at ICFO and Institut de Recerca Sant Joan de Déu are collaborating to develop new advanced microscopy and image analysis technologies to provide clinicians with precise tools for diagnosis and also to help monitor the effectiveness of new therapies for patients with congenital muscular dystrophies, thus aiding to accelerate their clinical application.