Obiettivo 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. Campo scientifico medical and health sciencesbasic medicineneurologyepilepsy Programma(i) FP7-PEOPLE - Specific programme "People" implementing the Seventh Framework Programme of the European Community for research, technological development and demonstration activities (2007 to 2013) Argomento(i) FP7-PEOPLE-2009-RG - Marie Curie Action: "Reintegration Grants" Invito a presentare proposte FP7-PEOPLE-2009-RG Vedi altri progetti per questo bando Meccanismo di finanziamento MC-IRG - International Re-integration Grants (IRG) Coordinatore KING'S COLLEGE LONDON Contributo UE € 100 000,00 Indirizzo STRAND WC2R 2LS London Regno Unito Mostra sulla mappa Regione London Inner London — West Westminster Tipo di attività Higher or Secondary Education Establishments Contatto amministrativo Andrew Webb (Mr.) Collegamenti Contatta l’organizzazione Opens in new window Sito web Opens in new window Costo totale Nessun dato
