Genomic research breakthroughs
Research breakthroughs
Dr Wendy Jones discusses Epilepsy Society's innovative genomics clinic and how it is helping guide families to understand the causes of epilepsy.
Genomics clinics
Genomics is an exciting field of science that enables us to look at a person's genome or DNA. The genome is our complete set of genetic instructions, containing all the information we need to grow and develop. It is made up of three billion letters arranged in pairs along our DNA.
At Epilepsy Society we are running an innovative epilepsy genomics clinic. The new clinic at our Chalfont Centre in Buckinghamshire, enables us to see and diagnose people who are thought to have an underlying genetic cause for their epilepsy.
Developing a Hub for Genomics Data Analysis and Clinical Data Interpretation
Bioinformatics uses computer programming to analyse or interpret the huge amount of data a sequenced genome produces. This will help us to understand the genetic architecture of the epilepsies and accelerate precision treatment for epilepsy.
Epilepsy Society, UCL and Congenica collaborate in genomic study to identify causes of SUDEP
Approximately 1 in 1,000 adults with epilepsy and 1 in 4,500 children with the condition lose their lives to Sudden Unexpected Death in Epilepsy (SUDEP) every year. Congenica, the global diagnostic decision support platform provider, is collaborating with Epilepsy Society's Chalfont Centre and UCL to study the genomics of SUDEP. The new collaboration aims to improve our clinical understanding of the condition, helping us to predict those most at risk and enable us to manage that risk.
Transcranial Magnetic Stimulation (TMS)
Transcranial Magnetic Stimulation (TMS) is a non-invasive way of looking inside a person's brain without using needles or electrodes and can be used to interpret information gained through genetic sequencing. TMS uses a strong magnet, similar to the one used in the MRI scanner, and can establish a link between brain activity and different types of sensory, motor and cognitive functions. We can then establish whether a specific genetic change is impacting on the function of the brain.
Research projects
The ultimate goal of our research is to pioneer personalised treatment and to incorporate genomic diagnosis into the NHS for people with epilepsy. This will enable us to prescribe more personalised, targeted treatments and reduce the impact that epilepsy has on many people's lives.
Read how we are working to understand the genetic architecture of each individual person's epilepsy through our world leading genomics research programme.