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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. Three years on there is much call for excitement as a genetic cause is now being identified almost weekly for more people whose epilepsy has hitherto  remained unexplained -  making a real difference.”

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 one thousand genomes from people with the most difficult-to-treat complex epilepsies will be sequenced. This is a very significant project, with the prospect of finally discovering the causes of epilepsy for many with the most severe disease, those most in need of help. The success of the project is paving the way  for even larger numbers of genomes to be sequenced from people with epilepsy, and has the important advantage of the entire process being designed for adoption in to NHS clinical practice.

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.

Please click on the link below to hear more about this project from Professor Sanjay Sisodiya, Director of Genomics at Epilepsy Society.




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