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epiPGX project

EpiPGX is a collaborative project funded by the European Commission. The aim of the project is to identify genome-based biomarkers (genetic characteristics) to improve and guide epilepsy treatment.

More than 20 anti-epileptic drugs are licenced for the treatment of the condition  but in 30 per cent of patients seizures cannot be controlled.

Anti-epileptic medications can cause severe adverse reactions that are mostly unpredictable and with some drugs they may increase the risk of foetal malformations in women taking them during pregnancy.

The differences in drug response and the occurrence of rare adverse reactions are believed to be caused by differences (or variants) in the genetic makeup of individuals. Knowledge of these variants would help us to predict drug response and adverse drug reactions and help us to select medications for each individual. This is known as personalised medicine.

DNA testing

EpiPGX is assembling several cohorts of people:

  • those who respond to medication early or late
  • those who are resistant to medication
  • those who develop adverse drug reactions
  • women who have offspring with developmental malformations.

Researchers are carrying out genome-wide genetic analyses of DNA samples from more than 12,000 people across Europe, comparing hundreds of thousands of genomic variants in people with different outcomes of treatment.

Researchers have made significant efforts to classify cases in exactly the same way across the centres in order to improve scientific outcomes. This has required a unified database, unified definitions, and significant efforts from the researchers collecting and entering data, as well as from the computer scientists that created the database and are dealing with management of increasing amount of data.