Researcher page - genomics latest
Dr Wendy Jones discusses Epilepsy Society's innovative genomics clinic and how it is helping guide families to understand the causes of epilepsy.
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.
Genomics is already helping us to understand the cause of seizures in some people with difficult-to-treat epilepsy where we think there may be a genetic basis to their condition.
A genetic diagnosis may help us to establish why a person has recurring seizures and can sometimes help to direct treatment.
At the Epilepsy Society site we are running an innovative epilepsy genomics clinic. The new clinic at our Chalfont Centre in Buckinghamshire, enables us to see people who are thought, or known, to have an underlying genetic cause for their epilepsy.
We are the first specialist centre in the country to be running this type of clinic for epilepsy.
Adults with difficult-to-treat epilepsy can be referred to the clinic by a GP or consultant from anywhere in the UK. You can find referral details on our website at www.epilepsysociety.org.uk/getting-referral
Our doctors try to investigate each individual's genetic pre-disposition to epilepsy and then try to shape treatments for the individual.
For some people genetic diagnosis can lead to a change in medication, diet or supplements, although often we do not yet have the required knowledge to redirect treatment.
The clinic also provides the opportunity to counsel patients and their families where there may be a chance of other family members being affected or of children having similar difficulties. And it ties in closely with the research we are doing into the epilepsies.
Taking part in our research study
Genomics promises to give us a wealth of information about each different type of epilepsy and a person's individual response to different medications. But our knowledge is still limited. That is why our research is so important in helping to enhance our understanding of the underlying genetic architecture of epilepsy, leading to better treatments for more people.
People with epilepsy, referred to UCLH Sir William Gowers Medical Centre and our epilepsy genomics clinic with a suspected genetic predisposition, are given the opportunity to participate in a study of epilepsy.
This is a study to investigate the genetic pre-disposition to epilepsy and its treatment. Our researchers extract DNA from the blood or saliva samples of those people who have given us consent to use their samples for research purposes. Sequencing their genomes provides us access to the wealth of valuable genetic information that is embedded in an individual’s DNA. Research in this field has increased our understanding of some of the genes that can cause epilepsy and determine response to some treatments.
People with changes in these genes are more likely to develop epilepsy or have a different response to their treatment. By looking at a large population, we hope to identify the incidence of these gene changes in the UK and improve our understanding of epilepsy.
Participants involved in our research may be offered a range of tests including genetic tests, neuroimaging (magnetic resonance imaging, electroencephalography and electrocardiography), transcranial magnetic stimulation, optical coherence tomography and 3D stereo photogrammetry. It will vary according to each person's epilepsy which tests they will be offered.
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.