Genomic research projects

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. 

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.