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The Genome Project

Embracing the value of genetic testing, in October 2016 the Trust began supporting a ground-breaking research project in genetic epilepsies, by commencing funding of a Muir Maxwell Trust Clinical Fellow, Dr Simona Balestrini, a fully qualified neurologist. The focus of Dr Balestrini's work is the genetics of epilepsy, the ultimate goal of which is for whole genome sequencing to be part of clinical practice in epilepsy. The expectation is that this work will bring important, personalised, valuable additional data to the understanding and management of each individual's epilepsy, and especially the children with early onset epilepsy which is difficult to control.

Epilepsy Society, UCL and UCLH are jointly working with Genomics England (GEL) 100,000 genomes project. It has been agreed that in collaboration with GEL 1,000 genomes from people with the most difficult-to-treat complex epilepsies will be sequenced. This is a very significant proposal, with the prospect of finally discovering the causes of epilepsy for many with the most severe disease, those most in need of help.

Muir Maxwell Trust is proud to be associated with this potentially pioneering project and to have the opportunity to contribute to funding our own Muir Maxwell Trust Clinical Fellow to carry out this vital research.

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