My group (Neuromuscular Disorders) studies inherited disorders of neuromuscular transmission, known as congenital myasthenic syndromes. To date, mutations in at least 14 different genes have been shown to cause these disorders, and it is an exciting time now with the advent of next generation sequencing likely to uncover more. We aim to identify candidate genes, define underlying mutations, investigate the disease mechanisms at the molecular level, and then explore new therapeutic strategies.