Dr Arnaud Jacquier
Dr Arnaud Jacquier is a hospital and university assistant in the team “nerve–muscle interaction” of Pr Laurent Schaeffer at the NeuroMyoGene institute. He is the head of the iPS core facility of the institute. His area of expertise is neuromuscular disorders, especially affecting the motoneuron or the neuromuscular junction. His research focuses on the development and characterization of in vitro models to prove the pathogenicity of genetic variants of unknown significance. He recently identified for the first time a mutation in COQ7 gene associated with distal hereditary motor neuropathy that is potentially treatable, paving the way for innovative therapeutics in the field.