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

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起着重要作用。到目前为止，快速进展仅限于孟德尔疾病的研究-部分原因是大多数遗传性癫痫在遗传上很复杂。然而，DNA测序技术的最新进展预计将使遗传简单和复杂癫痫的突破性基因发现成为可能-新的推定遗传变异被非常迅速和大量地发现。最近的研讨会认识到这一可能性，但主要集中在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“人类癫痫遗传学的机会”会议上，很少有报告涉及动物模型或详细讨论这些考虑因素。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是绝对关键的，以便a）验证和扩展人类发现（对于从散发病例中鉴定的变异特别重要），B）了解疾病的潜在机制，以及c）使用最好的动物模型来检查新疗法的前景。我们提议的会议是圣地亚哥会议的自然后续活动，将是癫痫领域领先的关键人类遗传学家的独特平衡，动物模型研究啮齿动物，苍蝇和斑马鱼的疾病，实验学家专注于治疗开发。我们的共同组织者各自的专业知识为这种平衡的代表性铺平了道路。拟议的会议“走到一起癫痫遗传学：从人类到模式生物和背部”将于2011年10月9日至11日在缅因州巴尔港的杰克逊实验室公海会议中心举行。会议规模小，互动性强，所有与会者-不仅仅是受邀发言者-都参加小组讨论和发言。 公共卫生相关性：仅在美国就有大约140万至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的持续对话和密切合作来实现，以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。本次会议促进了这种对话。) 免责声明：请注意，以下评论是由审查员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。 虽然审查人员有机会根据小组讨论情况更新或修订其书面评价，但不能保证在会议讨论之后更新了个人评论。 因此，这些评论可能并不完全反映小组讨论结束时单个评审员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评审员在会议上实际认为关键的最后一句话。

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.