Neuromuscular Genetics

Group Leader : Gonzalo Blanco

Mouse models of neuromuscular disorders

Our aim is to improve understanding of the neuromuscular system regulation through the characterization of key genes associated with muscular dystrophies, peripheral nerve anomalies or both. We begin by identifying mouse mutants that display neuromuscular phenotypes such as muscle fibre degeneration, muscle atrophy or motoneuron degeneration. By identifying the mutations provoking those disease phenotypes we can reveal genes whose function cannot be replaced and therefore play a fundamental role. Often, these efforts lead to the identification of novel proteins or new functions of known proteins, hence the focus is eventually shifted from mutation identification to characterization of protein function.

Read more about the projects are currently being undertaken: