Lafora epilepsy mechanisms: insights into brain metabolism

拉福拉癫痫机制：深入了解大脑代谢

• 批准号: 9125528
• 负责人: JACK E DIXON
• 金额: $ 1.5万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN DIEGO
• 依托单位国家: 美国
• 财政年份: 2016
• 资助国家: 美国
• 起止时间: 2016-05-01 至 2017-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9125528
• 关键词: Adolescence; Advocate; Agreement; Caregivers; Cessation of life; Childhood; Clinical; Collaborations; Communities; Consensus; Core Grant; Cytoplasm; Data; Dendrites; Development; Disease; Dreams; Educational workshop; Epilepsy; Family; Fostering; Funding; Future; Genes; Genetic; Glycogen; Goals; Grant; Intractable Epilepsy; Lafora Disease; Life; Methodology; Molecular; Mutation; Parents; Patients; Physicians; Positioning Attribute; Postdoctoral Fellow; Questionnaires; Refractory; Research; Research Personnel; Scientist; Starch; Students; Translational Research; Travel; Underrepresented Groups; Update; Woman; Work; base; brain metabolism; experience; insight; interest; meetings; member; programs; public health relevance; symposium; tool; web site

 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.

 描述（由申请人提供）：本提案旨在通过在 2016 年组织第二次拉福拉病 (LD) 研讨会，扩展 2014 年举办的第一届非常成功的拉福拉病 (LD) 研讨会。LD 研究社区由一组专门的研究人员、医生组成和患者倡导者团结起来，共同目标是减轻 LD 患者及其家人的痛苦。 LD 是一种致命的癫痫症，在青少年时期就出现，最终在第二个十年死亡。最近，在理解 LD 的分子基础机制方面取得了重大进展，在第一届 LD 研讨会上，人们一致认为 LD 界将合作，共同寻找 LD 的治疗或治愈方法。结果提交了一份 CWoW，获得了好评，但没有获得资助。我们当前的目标是，第二次 LD 研讨会将重点关注并加强我们在推动治疗/治愈方面的合作努力。第二次 LD 研讨会的总体目标是。具体总结如下目标： 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，包括女性和来自代表性不足群体的科学家；合作资助的新方向并明确未来的目标，包括向 LD 社区更新协作资助核心生成的可用于 LD 研究的新工具。组委会有三名回归成员，由以下人员组成。研究界经验丰富的领导者以及医生和 LD 家长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。 医生和患者倡导者也能深入了解 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。该提案的资金将用于提供差旅费。还要求为演讲者、学生和博士后提供行政援助（计划、调查问卷）和信息技术（网站支持）资金。