Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

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.“

Similar stories

Funding awarded for autoimmune disease research

Dr Kate Attfield awarded project funding by Connect Immune Research and The Lorna and Yuti Chernajovsky Biomedical Research Foundation.

Capturing immune cells that colonise the brain to prevent disease progression in multiple sclerosis

MRC WIMM researchers have revealed a population of immune cells that travel to the brain in patients with multiple sclerosis causing disease. They demonstrate how to trap these cells in the blood, meaning they can be targeted to prevent disease progression.

Angela Vincent honoured for excellence in epilepsy research

Emeritus Professor Angela Vincent received the Research Recognition Award, clinical science, at the annual meeting of the American Epilepsy Society.

New research to investigate role of blood-brain barrier

A new consortium of 27 partners coordinated by our researcher Prof Zameel Cader will tackle the challenge of discovery and characterisation of blood-brain barrier targets and transport mechanisms for brain delivery of therapeutics.

European licence for migraine prevention drug

MRC WIMM research underpins the first treatment designed specifically for the prevention of migraines

World’s largest autism grant will transform research landscape

The largest research grant ever given for neurodevelopmental conditions has been awarded by the Innovative Medicines Initiative to an international consortium that includes the participation of Prof Zameel Cader.