Lafora epilepsy mechanisms: insights into brain metabolism

 描述(由申请者提供)：本提案旨在通过在2016年组织第二次拉福拉疾病研讨会来扩大2014年举办的第一次非常成功的拉福拉疾病(LD)研讨会。LD研究界由一个由研究人员、医生和患者权益倡导者组成的专门小组组成，他们团结在一起，共同致力于减轻LD患者及其家人的痛苦。LD是一种致命的癫痫，在青少年早期表现出来，最终在生命的第二个十年死亡。最近，在理解LD的分子机制方面取得了重大进展。在第一次LD研讨会上，人们达成了一项共识，即LD社区将合作，共同寻找治疗或治愈LD的方法。这项协议的结果是提交了一份CWW，得分很高，但没有资金。我们目前的目标是，第二次LD研讨会将集中并加强我们在推动治疗/治愈方面的合作努力。第二次LD研讨会的总体目标总结如下：1)向LD/癫痫领域的科学家传播新的发现、方法和工具；2)促进科学家之间的科学讨论和协作；3)鼓励新科学家的专业发展，包括妇女和来自代表性不足群体的科学家；4)确定协作补助金的新方向和明确未来目标，包括向LD社区通报协作补助金核心产生的可用于LD研究的新工具。组织委员会有三名回归成员，由研究界经验丰富的领导人以及一名医生和一名LD家长组成。会议主题将反映这种多样性，因为我们努力不仅包括研究人员 还包括医生和患者权益倡导者，从而获得对LD各个方面的见解，并拓宽了我们讨论的基础。必须指出的是，这是世界上唯一一次集中讨论发展筹资问题的会议。这项提案的资金将用于为演讲者、学生和博士后研究员提供旅行援助。还要求提供行政援助(方案、调查问卷)和信息技术(网站支持)的资金。

 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.