Coming Together on Epilepsy Genetics: From Human to Model Organisms, and Back

齐聚癫痫遗传学：从人类到模式生物，再返回

• 批准号: 8205053
• 负责人: WAYNE N. FRANKEL
• 金额: $ 2万
• 依托单位: JACKSON LABORATORY
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-07-01 至 2012-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8205053
• 关键词: Address; Animal Model; Animals; Awareness; Back; Basic Science; Biological; Biology; Clinical; Clinical Research; Collaborations; Communication; Communities; Complex; Congresses; Critiques; Cryptogenic Epilepsies; DNA Sequence; Development; Disease; Doctor of Philosophy; Drosophila genus; Educational workshop; Epilepsy; Equilibrium; Etiology; Evaluation; Exposure to; Family; Fostering; Genetic; Goals; Hand; Home environment; Human; Human Genetics; Individual; Letters; Life; Maine; Modeling; Mus; Nature; Paper; Participant; Play; Predisposition; Publishing; Recommendation; Research; Research Personnel; Rodent; Role; Scientist; Series; Study Section; Study models; Technology; The Jackson Laboratory; Time; Translational Research; Underrepresented Minority; Update; Validation; Variant; Woman; Writing; Zebrafish; base; career; career development; design; fly; follow-up; gene discovery; genetic variant; human data; interest; meetings; new technology; programs; symposium; therapy development

DESCRIPTION (provided by applicant): 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.

描述（由申请人提供）：在过去的十年中，人们广泛认识到遗传学在特发性和隐源性癫痫的易感性中发挥着重要作用。到目前为止，快速进展仅限于孟德尔病的研究，部分原因是大多数遗传性癫痫的基因都很复杂。然而，DNA 测序技术的最新进展预计将为简单遗传性癫痫和复杂性癫痫的基因发现带来突破性进展——新的假定遗传变异将很快大量被发现。最近的研讨会认识到了这种可能性，但主要关注人类遗传学和临床方面。例如，8 月 30 日至 9 月 1 日在圣地亚哥举行的“人类癫痫遗传学机遇”会议上，很少有演讲涉及动物模型或详细讨论相关考虑因素。我们认识到，模式生物的参与对于发现新的人类变异的实际价值绝对至关重要，以便 a) 验证和扩展人类发现（对于从散发病例中识别出的变异尤其重要），b) 了解潜在的机制疾病，c) 使用最好的动物模型来检验新疗法的前景。我们提议的会议是圣地亚哥会议的自然后续会议，将是癫痫领域领先的人类遗传学家的独特平衡，动物模型师研究啮齿动物、苍蝇和斑马鱼的疾病，实验学家专注于治疗开发。我们的联合组织者各自的专业知识引领着这种平衡的代表性。拟议的会议“齐聚癫痫遗传学：从人类到模式生物并返回”将于 2011 年 10 月 9 日至 11 日在缅因州巴港的杰克逊实验室公海会议中心举行。该会议规模较小，互动性强，让所有参与者（而不仅仅是受邀发言者）参与小组讨论和演示。 公共卫生相关性：仅在美国就有大约 1.4 至 270 万人患有这种可能危及生命的疾病。为了理解和制定治疗简单和复杂癫痫的策略，我们必须开发能够概括人类状况的模型。这只能通过临床科学家和基础研究人员之间持续对话和密切合作来完成，开发模型来验证和扩展临床发现并了解癫痫及其变异形式的复杂病因。这次会议推动了这样的对话。 ） 免责声明：请注意，以下评论是由审稿人在研究部分会议之前准备的，并且以基本上未经编辑的形式提供。 虽然审稿人有机会根据小组的讨论更新或修改他们的书面评估，但不能保证个人批评在会议讨论后得到更新。 因此，评论可能无法完全反映小组讨论结束时个别审稿人的最终意见或小组的最终多数意见。因此，讨论的简历和摘要是审稿人在会议上实际认为关键的内容的最终决定。