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Genomic research projects

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Research projects

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).

The Genomics Research Programme

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. 

Predicting and reducing the risks of avoidable deaths from epilepsy

subtitle: Genomics

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.

DOORS Syndrome Has Genetic Cause

subtitle: Genomics

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.

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.

3D Stereophotogrammetry

subtitle: Genomics

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.

Our research

Genomics

Read how we are working to understand the genetic architecture of each individual person's epilepsy through our world leading genomics research programme.