Lafora epilepsy mechanisms: insights into brain metabolism

 描述（由申请人提供）：本提案旨在通过在2016年组织第二次Lafora疾病研讨会，扩展2014年举办的第一次非常成功的Lafora疾病（LD）研讨会。LD研究社区由一组专门的研究人员，医生和患者倡导者组成，他们的共同目标是减轻LD患者及其家人的痛苦。LD是一种致命的癫痫，在青少年时期早期表现出来，在生命的第二个十年中死亡。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，有一个共识，LD社区将合作，共同努力寻找LD的治疗或治愈方法。这一协议导致了CWoW的提交，这是有利的评分，但没有资助。我们目前的目标是，第二次LD研讨会将集中和加强我们的合作努力，因为我们推动治疗/治愈。第二届LD研讨会的总体目标概括为以下具体目标：1）向LD/癫痫领域的科学家传播新发现、方法和工具; 2）促进科学家之间的科学讨论和合作; 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）确定新的方向，并澄清合作赠款的未来目标，包括更新LD社区的合作赠款核心产生的LD研究可用的新工具。组委会有三名归国成员，由研究界经验丰富的领导人以及一名医生和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， 而且医生和病人的倡导者，从而获得深入了解LD的各个方面，并扩大我们的讨论基础。值得注意的是，这是世界上唯一一次关注LD的会议。本提案提供的资金将用于为演讲者、学生和博士后研究员提供旅费补助。还要求为行政援助（方案、调查表）和信息技术（网站支持）提供资金。

 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.