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中文摘要
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项目摘要/摘要(管理核心) 我们已经建立了一个创新的项目,名为《人类特发性疾病的发展机制》 脊柱侧弯“。该计划结合了在人类中无偏见的基因发现,建模和基因发现 斑马鱼,以及对基因调控序列的基因组分析,将确定斑马鱼的潜在原因 青少年特发性脊柱侧凸(AIS)是儿童最常见的肌肉骨骼疾病。三项研究 这些努力是由团体领导的。项目1“人类”专注于AIS基因的发现,由Carol A领导。 WISE,PD,PI,德克萨斯大学西南医学中心和德克萨斯苏格兰礼仪儿童医院。 项目2“斑马鱼”由圣路易斯华盛顿大学医学院的Lila Solnica-Krezel领导。 项目3“基因组学”由加州大学旧金山分校的Nadav Ahituv领导。行政核心 将协助该方案的活动,该方案已经是一个协作性的工作,并将最终负责 它的执行力和生产力。核心将促进组织、通信、数据流、合规性和 研究小组之间的工作效率。核心的具体责任将是确保有效和 项目组件组之间的频繁沟通,以建立并与 咨询委员会,对委员会的建议作出回应,以确保支付资金 适当地,保持合规性和监督质量控制,并支持高生产率。这个 项目主任怀斯博士和一名行政助理将监督该项目的管理。一个 行政核心的主要活动将是协调各小组之间经常举行的有组织的会议 和咨询委员会,作为定期更新情况的论坛,促进交流意见和数据,以及 通过监测对既定时间表的遵守情况,使计划保持在正轨上。核心组织将组织一次 计划组成部分和咨询委员会的年度专门面对面会议。核心将会 还协调各次会议的会议,特别是NICHD出生缺陷研讨会和其他专业人员 开会。重要的是,行政核心将总结关键结论和关键后续步骤,以 参加本计划的所有会议,无论是电子会议还是面对面会议。否则,管理核心 将负责定期监控预算,遵守道德准则,遵守 机构和联邦要求(例如机构审查委员会、机构动物护理和使用 委员会),以及遵守数据共享政策。最后,核心将促进筹备和 提交手稿,确保公平和与NIH公共获取政策的一致性。以这些方式 核心将促进计划内的协同互动,并加快破译 AIS的发病机制。 1
英文摘要
Project Summary/Abstract (Admin Core) We have established an innovative Program entitled “Developmental Mechanisms of Human Idiopathic Scoliosis”. This program combines unbiased gene discovery in humans, modeling and gene discovery in zebrafish, and genomic analysis of gene regulatory sequences that will define the underlying causes of adolescent idiopathic scoliosis (AIS), the most common musculoskeletal disorder in children. Three research groups are leading these efforts. Project 1 “Human” focuses on AIS gene discovery and is led by Carol A. Wise, PD, PI, University of Texas Southwestern Medical Center and Texas Scottish Rite Hospital for Children. Project 2 “Zebrafish” is led by Lila Solnica-Krezel, Washington University School of Medicine St. Louis. Project 3 “Genomics” is led by Nadav Ahituv, University of California San Francisco. The Administrative Core will aid activities of the Program, which is already a working collaborative, and will be ultimately responsible for its execution and productivity. The Core will facilitate organization, communication, data flow, compliance, and productivity between the research groups. Specific responsibilities of the Core will be to ensure effective and frequent communication between component groups of the project, to establish and communicate with an Advisory Committee, to respond to advice from the committee, to ensure that funding is disbursed appropriately, to maintain compliance and oversee quality control, and to support high productivity. The Program Director Dr. Wise and an administrative assistant will oversee the administration of the Program. A primary activity of the Administrative Core will be to coordinate frequent, structured meetings between groups and the Advisory Committee as a forum for regular updates, to promote the exchange of ideas and data, and to keep the program on track by monitoring adherence to established timelines. The Core will organize an annual, dedicated face-to-face meeting of the Program components and Advisory Committee. The core will also coordinate meetings at conferences, notably the NICHD Birth Defects workshop and other professional meetings. Importantly, the Administrative core will summarize key conclusions and critical follow-up steps that emerge from all meetings, whether electronic or in person, for the Program. Otherwise the Administrative Core will be responsible for regularly monitoring budgets, compliance with ethical guidelines, compliance with institutional and federal requirements (e.g. institutional review boards, institutional animal care and use committees), and compliance with data-sharing policies. Finally, the Core will facilitate the preparation and submission of manuscripts, ensuring fairness and consistency with NIH public access policies. In these ways the Core will promote synergistic interaction within the Program and hasten the goal to decipher the pathogenesis of AIS. 1
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Integrated analyses of genome sequencing in adolescent idiopathic scoliosis families
  • 批准号:
    10195530
  • 项目类别:
  • 资助金额:
    $13.77万
  • 财政年份:
    2021
  • 负责人:
    CAROL A WISE
  • 依托单位:
Integrated analyses of genome sequencing in adolescent idiopathic scoliosis families
  • 批准号:
    10491053
  • 项目类别:
  • 资助金额:
    $13.12万
  • 财政年份:
    2021
  • 负责人:
    CAROL A WISE
  • 依托单位:
Human Genetics and Clinical Translation
  • 批准号:
    10458400
  • 项目类别:
  • 资助金额:
    $35.7万
  • 财政年份:
    2016
  • 负责人:
    CAROL A WISE
  • 依托单位:
Human Genetics and Clinical Translation
  • 批准号:
    10646377
  • 项目类别:
  • 资助金额:
    $33.96万
  • 财政年份:
    2016
  • 负责人:
    CAROL A WISE
  • 依托单位:
海外基金