Characterization of neuronal gene regulatory elements associated with epilepsy
Description: Epilepsy is a complex and heterogeneous disease which makes it difficult to precisely diagnose and provide an effective treatment. A major cause of complex diseases, such as epilepsy, could be due to mutations in gene regulatory elements that instruct genes when, where and at what levels to turn on or off. Here, we will identify and characterize gene regulatory elements that could be associated with epilepsy and screen epilepsy patients for mutations in them, thus improving the genetic diagnosis of epilepsy. Disclaimer: Note that reviewers were given the following special instructions for the review of these Exceptional Unconventional Research Enabling Knowledge Accelerations (EUREKA) grant applications: The purpose of the EUREKA initiative is to foster exceptionally innovative research that, if successful, will have an unusually high impact on the areas of science that are germane to the mission of one or more of the participating NIH institutes. EUREKA is for new projects. EUREKA is not for the continuation of existing projects. EUREKA is not for support of pilot projects (i.e., projects of limited scope that are designed primarily to generate data that wll enable the PI to seek other funding opportunities). Rather, it is anticipated that EUREKA projects will begin and be completed during the funding period. Please provide an opinion and assessment of the likelihood the project will exert a sustained, powerful influence on the research field(s) involved. Significance and innovation should be the major determinants of your overall impact score. The approach should be evaluated for general feasibility. An application should score poorly if it is clear to the reviewers that the proposed methodology has no probability at all of being successful, either because it is inherently illogical or because the sae approach has already been attempted and shown not to be feasible. Remember that unavoidable risk, which is intrinsic to novel and innovative approaches, is expected for these applications and reviewers are instructed that the presence or absence of preliminary data should not be taken into account when determining the score. Applications that are good science for standard research type investigation, but not likely to exert a sustained and powerful influence on the field, should be scored down.
Funding type: research
Funder scheme: R01
Start date: 2012-04-01
End date: 2016-03-31
Investigator: NADAV AHITUV
Institution: UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
Funded outputs count: 29
Funder award ID: R01NS079231
OpenAlex ID: G4618924409