TRHE

Translational research in human epilepsies

Coordinatore	KING'S COLLEGE LONDON    more  Organization address address: Strand city: LONDON postcode: WC2R 2LS contact info Titolo: Mr. Nome: Andrew Cognome: Webb Email: send email Telefono: +44 20 7848 6653 Fax: +44 20 7848 6159
Nazionalità Coordinatore	United Kingdom [UK]
Totale costo	100˙000 €
EC contributo	100˙000 €
Programma	FP7-PEOPLE Specific programme "People" implementing the Seventh Framework Programme of the European Community for research, technological development and demonstration activities (2007 to 2013)
Code Call	FP7-PEOPLE-2009-RG
Funding Scheme	MC-IRG
Anno di inizio	2010
Periodo (anno-mese-giorno)	2010-03-01   -   2014-02-28

 Partecipanti

#	participant	country	role	EC contrib. [€]
1	KING'S COLLEGE LONDON  Organization address address: Strand city: LONDON postcode: WC2R 2LS contact info Titolo: Mr. Nome: Andrew Cognome: Webb Email: send email Telefono: +44 20 7848 6653 Fax: +44 20 7848 6159	UK (LONDON)	coordinator	100˙000.00

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 Obiettivo del progetto (Objective)

'The goal of this proposal is to identify the major genes and gene variants that cause human epilepsies and their comorbid traits of cognitive and behavioral impairments. The common epilepsies are complex disorders caused by a combination of susceptibility genes. To date we have identified major genes for three main classes of epilepsy that account for 30% of the population total. In this proposal we aim to (1) Search for sequence and structural variations in identified genes ELP4, BRD2 and ME2 that predispose to disease; (2) Repeat genomewide screens and fine-mapping studies for additional susceptibility loci that act in combination with identified genes; (3) Develop animal models to delineate functional effects of gene variants. The significance of this proposal is manifold. First, trait susceptibility genes discovered through study of epilepsies may contribute to common neurodevelopmental impairments in the general population, eg for reading disability. Second, genes for common epilepsies may be shared with less common but more catastrophic neuroregressive conditions. Third, our discoveries will also significantly contribute to our understanding of the mechanisms of normal and abnormal postnatal brain development. Last, we anticipate that genetic discoveries will lead to better diagnostic screening tests, prediction of risk in presymptomatic individuals, and gene-based therapeutic strategies that not only avoid the adverse effect profiles of the current generation of antiepileptic agents but also may result in cure and prevention.'

Introduzione (Teaser)

Understanding what causes epilepsy in humans is the only way to halt disease progression. In this context, a European group tracked down the genes that cause epilepsy to design novel treatments.