Lafora epilepsy mechanisms: insights into brain metabolism

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 DESCRIPTION (provided by applicant): This proposal aims to expand upon the first highly successful Lafora Disease (LD) Workshop held in 2014 by organizing a second Lafora Disease Workshop in 2016. The LD research community is comprised of a dedicated group of researchers, physicians, and patient advocates united with the common goal of alleviating the suffering of LD patients and their families. LD is a deadly epilepsy that manifests early in the teenage years culminating in death by the second decade of life. Recently, there have been major advances in understanding the molecular mechanisms underlying LD. At the first LD Workshop, there was a consensus that the LD community would collaborate, working together to find either a treatment or a cure for LD. This agreement resulted in the submission of a CWoW, which was favorably scored but not funded. Our current goal is that the second LD workshop will focus and strengthen our collaborative efforts as we push toward a treatment/cure. The overall goals of the second LD workshop are summarized in the following Specific Aims: 1) Disseminate new discoveries, methodologies and tools to scientists in the LD/epilepsy field; 2) Facilitate scientific discussion and collaboration between scientists; 3) Encourage professional development of newer scientists, including women and scientists from underrepresented groups; 4) Identify new directions and clarify future goals for collaborative grants, including updating the LD community on new tools available for LD research generated by the collaborative grant cores. The organizing committee has three returning members and is comprised of experienced leaders in the research community as well as a physician and LD parent. The meeting topics will reflect this diversity as we strive to include not only researchers but also physicians and patient advocates thereby gaining insights into various aspects of LD and broadening the base of our discussions. It is important to note that this is the only meeting in the world that focuses on LD. Funds from this proposal will be used to provide travel assistance to speakers, students and postdoctoral fellows. Funds for administrative assistance (program, questionnaire) and IT (website support) are also requested.