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The Genomics Research Programme

The Genomics Research Programme aims to sequence and provide clinical interpretation of 5,000 genomes in the first instance. Our research is carried out in collaboration with: the NHS (National Hospital for Neurology and Neurosurgery); academia (UCL), government (Genomics England Ltd which is the government’s flagship agency formed to initiate the development of a UK genomics industry and to bring genomics into clinical practice) and life science industry partners (Congenica Ltd).

Initially we began our genomics research by sequencing just a small part of the DNA at Epilepsy Society, focusing on the exome, or 10 million letters that carry the most significant coding regions of DNA - those that direct the body to make proteins essential for it to function. This has helped us to make progress in recognising epilepsy syndromes, defining them genetically and understanding the correlation between patients’ genotype and phenotype. Now we are looking at the whole genome (3 billion letters comprising of coding and non-coding regions of DNA) in order to enhance our understanding of the genetic predispositions that cause different types of epilepsies. This could also help to identify risk factors and therapeutic markers, which could potentially lead to the development of new anti-epileptic medications.  Read more about the current projects in our Genomics Research Programme below.

Genetic image

Exploring Genetic Diagnosis for Complex Epilepsies

In this project we will undertake whole genome sequencing analysis of people with complex epilepsy. Our aim is to be able to give individuals participating in the programme an accurate diagnosis and provide the basis for developing individualised treatments.

 

Predicting and reducing the risks of avoidable deaths from epilepsy

Almost 1 in 100 people in the UK have epilepsy and they are 2-3 times more at risk of premature death and 20 times more at risk of sudden unexpected death compared to the general population. Our SUDEP project is undertaking whole genome sequencing on 100 DNA samples to try to identify genetic changes that may increase a person's susceptibility to SUDEP.

 

A multidimensional approach to epilepsy genomics

Alongside sequencing, we are using some of the most sophisticated equipment to help interpret genetic data. 3D stereophotogrammetry is helping to demonstrate how a genetic contribution to epilepsy can have a subtle but significant impact on facial structure and in turn help us to understand an individual’s genome; optical coherence tomography can show the impact of epilepsy on the thickness of the retinal fibres at the back of the eyes; and transcranial magnetic stimulation  is helping to analyse brain activity without the need for electrodes or needles.

A face being shown from three different angles

3D Stereophotogrammetry

We know that the shape of the human face is influenced by genetic factors. Now our researchers are using 3D imaging, or three-dimensional stereophotogrammetry, to try to establish whether there is a link between face shape and genetic variations which can lead to epilepsy.

 

Optical Coherence Tomography

Optical Coherence Tomography

Optical Coherence Tomography is one of the most advanced scanning tools used to measure the thickness of the retinal fibres at the back of the eye.

 

One of our researchers using the TMS machine

Transcranial Magnetic Stimulation (TMS)

Transcranial Magnetic Stimulation (TMS) is a non-invasive and painless technique, using a powerful magnetic field, similar to that used in an MRI scanner. This is used to stimulate a small region of the brain. For example, if we stimulate the brain region controlling movement, it will cause a measurable muscle twitch.

 

DNA helix

DOORS Syndrome Has Genetic Cause

Today at Epilepsy Society we are using whole genome sequencing to help us understand the many causes of epilepsy. This builds on many years of studying epilepsy by investigating the exome, or protein-encoding part of our genes which accounts for 10 million letters. Read about our research to understand the genetic causes of DOORS syndrome using exome sequencing.