Functional genomic variation in the epilepsies (EuroEPINOMICS)

Summary

Programme leaflet for download

Epilepsy is a common serious neurological disorder affecting ~6 million people in Europe. Despite the many new drugs released in the last 20 years, one third of all epileptic patients remain refractory to pharmacotherapy implying the need to develop novel treatments with innovative mechanisms of action.
The discovery of the first epilepsy genes has identified novel molecular pathways involved in epileptogenesis and helped to define new drug targets. These findings have come mostly from rare monogenic forms of epilepsy, whereas the complex genetics of the common epilepsy syndromes and the genetic factors determining a patient’s response to antiepileptic drugs (pharmacogenetics) are largely unknown.

Scientific Objectives

The objectives of EuroEPINOMICS are:

  1. to identify novel epilepsy genes and genetic variants predisposing to epilepsy and drug response, and
  2. to unravel their molecular pathways.

EuroEPINOMICS aims to bring together scientific expertise and resources of leading European research groups in order to:

  1. provide high-resolution maps of genetic risk factors for common epilepsy syndromes,
  2. dissect genetic determinants of the response to antiepileptic drugs, and
  3. elucidate the mechanisms of epileptogenesis.

The long-term scientific goals are:

  1. the identification of novel therapeutic targets, and
  2. an individualized pharmacotherapy.

EuroEPINOMICS will apply innovative molecular genetic techniques in large European cohorts of well characterized epilepsy patients (N>8000) by combining the resources of current European collaborative projects (EPICURE, EPIGEN, EURIPIDES, EURAP).

 

The molecular genetic studies will focus on:

(1)    common idiopathic epilepsy syndromes,

(2)    mesial temporal lobe epilepsy,

(3)    febrile seizures, and

(4)    rare monogenic epilepsy syndromes.

 

Pharmacogenetic studies are warranted to identify genetic risk factors affecting drug response, side effects, refractoriness and teratogenicity. Complementarily, comprehensive functional studies using state-of-the-art techniques will elucidate the epileptogenic mechanisms of the identified genetic variants.

 

Development of the EuroEPINOMICS programme

Following agreement with 16 funding organisations in Austria, Belgium (FWO and FNRS), Estonia, Finland, Germany, Hungary, Luxemburg, Norway, Poland, Portugal, Romania, Spain, Switzerland, Turkey and the United Kingdom, the European Science Foundation launched a Call for Full Proposals for Collaborative Research Projects (CRPs) to be undertaken within the EUROCORES Programme  EuroEPINOMICS.
The programme will run for 3 years (April 2011 - April 2014) and aims to support high quality multidisciplinary research in Europe, with involvement of leading scientists from outside Europe when appropriate.

Peer Review

The list of reviewers used for the assessment of  collaborative research projects can be found here.

Click to enlarge

Picture: Kir4.1 immunoreactivity in the mouse hippocampus at postnatal day 42. Perikarya of cells were visualized by Nissl staining (blue), Kir4.1 protein was identified with specific antibodies (green).
© C. Steinhäuser, Bonn University. (Epiglia CRP)