Project: Motoneuron and NMJ genetic diseases

About

From genes to pathophysiology to treatment: motoneuron and NMJ pathologies involve more than 100 genes and many remain to be identified. The goal of this axis is to identify and characterize new genes involved in pathologies such as Charcot-Marie-Tooth disease, Spinal Muscle Atrophy and Congenital Myasthenic Syndromes. Human induced pluripotent stem cells (hiPS) provide a powerful mean for modeling motoneuron and NMJ genetic disorders to understand the underlying pathophysiology of newly identified genes and propose new treatments.