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，人们广泛认为遗传学在对特发性和隐性癫痫的敏感性中起着很大的作用。到目前为止，快速进步仅限于对孟德尔病的研究 - 部分是因为最可遗传的癫痫在遗传上是复杂的。但是，预计DNA测序技术的最新进展有望使遗传简单和复杂癫痫的突破性基因发现 - 新推定的遗传变异被非常迅速地发现。最近的研讨会认识到这种情况，但主要集中在人类遗传学和临床方面。例如，在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”中，很少有演讲涵盖动物建模或详细讨论这些考虑因素。我们认识到，模型生物的参与对于发现新人类变体的带回家的价值至关重要，以a）验证和扩展人类发现（尤其重要的是，对于从零星病例中确定的变体而言，尤其重要），b）了解疾病的基本机制，c）使用最佳的动物模型来检查新的Therapies的动物模型。我们拟议的会议是对圣地亚哥的自然后续活动，将是主要人类遗传学家在癫痫领域领导道路的独特平衡，动物建模者研究了啮齿动物，苍蝇和斑马鱼中的疾病，实验者专注于治疗的发展。我们的合作社各自的专业知识为这种平衡的表示带来了道路。拟议的会议“在癫痫遗传学上：从人到模型有机体和背部都将在2011年10月9日至11日在缅因州巴尔港的杰克逊实验室的Highseas会议中心举行。该会议旨在小型且高度互动，涉及所有参与者 - 不仅是被邀请的演讲者 - 在小组讨论中 - 在介绍中和演讲中。 公共卫生相关性：仅在美国，大约有1.4至270万人患有这种潜在的威胁生命的疾病。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完成，以验证和扩展临床发现，并了解癫痫及其变体形式的复杂病因。这次会议促进了这样的对话。 ） 免责声明：请注意，以下批评是由审稿人在研究部分会议之前准备的，并以本质上未经编辑的形式提供。 尽管审稿人有机会根据小组的讨论来更新或修改其书面评估，但不能保证在会议上讨论后对个人批评进行了更新。 因此，批评可能无法完全反映在小组讨论结束时单个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至关重要的最终词。