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.
Fields of science (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
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Programme(s)
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Topic(s)
Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Call for proposal
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
FP7-PEOPLE-2009-RG
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Funding Scheme
Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Coordinator
WC2R 2LS London
United Kingdom
The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.