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Prof David Beeson has been awarded an MRC 5 Year Programme Grant - Disease mechanisms and therapies for inherited disorders of the neuromuscular synapse2.


David says – “Congenital myasthenic syndromes (CMS) stem from genetic defects that affect signal transmission at the neuromuscular synapse.  Although these disorders are life-threatening and can cause severe disability,  they provide rare examples of genetic muscle diseases that can be treated if the underlying molecular mechanisms are understood.   At least 19 causative genes have been uncovered with mutations identified in proteins involved in signal transfer, synaptic stability, or synaptic glycosylation.   The programme of work will resolve the genetics that underlies remaining patient phenotypes, explore disease mechanisms in recently identified causative genes, and research present and potential therapies.“