In the past decade it has been broadly recognized that genetics plays a large role in susceptibility to idiopathic and cryptogenic epilepsy. Until now, rapid progress has been limited to the study of Mendelian disease - in part because most heritable epilepsy is genetically complex. However, recent advances in DNA sequencing technologies are expected to enable breakthrough gene discovery for both genetically simple and complex epilepsy - with new putative genetic variants being discovered very rapidly and in large numbers. Recent workshops recognized this eventuality, but focused primarily on the human genetics and clinical aspects. For example, at """"""""Opportunities in the Genetics of Human Epilepsy,"""""""" held on August 30-September 1 in San Diego, few presentations covered animal modeling or discussed the considerations in any detail. We recognize that involvement of model organisms is absolutely critical for the take-home value of discovery of new human variants in order to a) validate and extend the human findings (particularly important with variants identified from sporadic cases), b) understand the mechanisms underlying the disease, and c) use the best possible animal models to examine the prospects of new therapies. Our proposed meeting is a natural follow-up to San Diego and will be a unique balance of key human geneticists leading the way in the field of epilepsy, with animal modelers studying the disease in rodents, flies and zebrafish, with experimentalists focused on therapy development. The respective expertise of our co- organizers leads the way for this balanced representation. The proposed meeting """"""""Coming Together on Epilepsy Genetics: from human to model organisms and back"""""""" will take place at The Jackson Laboratory's Highseas Conference Center in Bar Harbor Maine on October 9th - 11th 2011. The meeting is designed to be small and highly interactive, involving all of the participants - not just the invited speakers - in group discussions and in presentations.

Public Health Relevance

Approximately 1.4 to 2.7 million people suffer from this potentially life threatening disorder in the US alone. In order to understand and develop strategies to treat simple and complex epilepsy, we must develop models that recapitulate the human condition. This can only be done through ongoing dialogue and close collaboration between clinical scientists and basic researchers developing models to validate and extend clinical findings and to understand the complex etiology of epilepsy and its variant forms. This meeting promotes such a dialogue. ) Disclaimer: Please note that the following critiques were prepared by the reviewers prior to the Study Section meeting and are provided in an essentially unedited form. While there is opportunity for the reviewers to update or revise their written evaluation, based upon the group's discussion, there is no guarantee that individual critiques have been updated subsequent to the discussion at the meeting. Therefore, the critiques may not fully reflect the final opinions of the individual reviewers at the close of group discussion or the final majority opinion of the group. Thus the Resume and Summary of Discussion is the final word on what the reviewers actually considered critical at the meeting.

National Institute of Health (NIH)
National Institute of Neurological Disorders and Stroke (NINDS)
Conference (R13)
Project #
Application #
Study Section
National Institute of Neurological Disorders and Stroke Initial Review Group (NSD)
Program Officer
Stewart, Randall R
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
Jackson Laboratory
Bar Harbor
United States
Zip Code