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中文摘要
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项目总结协调核心 杰克逊实验室(JAX)精密遗传学中心(JCPG)汇聚了一个多学科的团队 包括遗传学家、遗传技术专家、定量和计算生物学家、临床专家 和经验丰富的资源经理。协调核心(下称核心)的目的是确保 在所有参与者之间进行富有成效的互动,并监督和促进所有行政和科学 联合联络小组的职能。这一职能是在JCPG主任和本计划的指导下执行的 经理与指导委员会(SC)和外部咨询委员会(EAB)协商。 通过实现四个具体目标,将实现联合联络小组的有效协调: 目标1.通过强有力的行政和行政管理,优化联合专家小组活动的整合和运作 技术疏忽。这包括:一)促进疾病模拟项目的提名过程;二) 确保生物信息学核心、疾病模型股和Pre/Co临床的综合运作 核心,三)便利联合联络小组的所有内部和外部沟通,四)协调安全理事会的活动 以及,v)协调所有JCPG记录的制作和提交,以满足内部和外部的要求 报告要求。 目标2.通过有效沟通促进中心生产力和科学协同。担任这一角色 核心负责组织中英联合联络小组领导层、顾问和 外部利益相关者。所有会议的目的都是跟踪目标、里程碑和意愿的进展情况 遵循定期的时间表,并在需要时补充临时聚会。 目标3.执行和完善评估和确定不同提名的优先次序的决定框架。 JCPG的中心职能是为人类基因变异的提名提供一个面向公众的程序 要么没有现有的哺乳动物研究模型,要么现有的模型不足以满足这些需求。这个 JCPG将建立一个程序,允许被提名人通过JCPG门户网站提交不同的候选人 位于日本宇宙航空研究开发机构网站(www.jax.org)。这些提名将经过审查程序进行评估 可行性、科学性和社会需求,然后确定进入模型管道的提名优先顺序 制作。JCPG项目经理将在整个过程中与被提名者直接沟通。 目标4.外展和对外沟通。中英联合联络小组的影响与 提名并完成开发的项目。最大限度地提高对所有潜在实体的认识 可能需要新的鼠标模型来进行研究和测试,我们将:i)利用现有的广泛的 疾病基金会和临床合作伙伴,以促进与可能需要老鼠的类似实体的联系 模型和,ii)使用JAX小鼠广泛的营销和推广基础设施,临床和研究 服务(JMCRS),使全球认识到JCPG的活动、模式、工具和服务。
英文摘要
PROJECT SUMMARY COORDINATION CORE The Jackson Laboratory (JAX) Center for Precision Genetics (JCPG) brings together a multi-disciplinary team including geneticists, genetics technology experts, quantitative and computational biologists, clinical experts and experienced resource managers. The purpose of the Coordination Core (hereafter, Core) is to ensure productive interactions among all participants and to oversee and facilitate all administrative and scientific functions of the JCPG. This function is carried out under the direction of the JCPG Director and the Program Manager in consultation with a Steering Committee (SC) and an External Advisory Board (EAB). Effective coordination of the JCPG will be achieved by accomplishing four Specific Aims: AIM 1. Optimize integration and function of JCPG activities through strong administrative and technical oversight. This includes: i) facilitating the process of nominating disease modeling projects, ii) ensuring integrated operation of the Bioinformatics core, the Disease Modeling Unit and the Pre/Co Clinical core, iii) facilitation of all internal and external JCPG communications, iv) coordination of activities of the SC and EAB and, v) coordinating production and submission of all JCPG records to meet internal and external reporting requirements. AIM 2. Promote center productivity and scientific synergy through effective communication. In this role the Core is responsible for organizing all formal meetings between and among JCPG leadership, advisors and external stakeholders. The purpose of all meetings is to track progress toward aims and milestones and will follow a regular schedule that will be supplemented with ad hoc gatherings as needed. AIM 3. Implement and refine a decision framework for evaluating and prioritizing variant nominations. A central function of the JCPG is to provide a public-facing process for nomination of human genetic variants that either have no existing mammalian research model or for which existing models are inadequate. The JCPG will establish a process that allows nominees to submit variant candidates through a JCPG web portal located on the JAX website (www.jax.org). These nominations will undergo a review process to evaluate feasibility, scientific and community need, and then prioritize the nomination for entry into the pipeline for model production. The JCPG Program Manager will communicate directly with the nominee throughout the process. AIM 4. Outreach and External Communication. The impact of the JCPG is directly related to the number of projects that are nominated and complete development. To maximize awareness for all potential entities that might need new mouse models for research and testing we will: i) leverage an existing extensive network of disease foundations and clinical partners to promote contacts with similar entities that might need mouse models and, ii) employ the extensive marketing and outreach infrastructure of JAX Mice, Clinical and Research Services (JMCRS) to bring worldwide awareness to JCPG activities, models, tools and services.
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Project 4: Therapeutic Gene Editing for Rett Syndrome
  • 批准号:
    10668770
  • 项目类别:
  • 资助金额:
    $46.97万
  • 财政年份:
    2023
  • 负责人:
    Cathleen M Lutz
  • 依托单位:
Administrative Core
  • 批准号:
    10668763
  • 项目类别:
  • 资助金额:
    $23.51万
  • 财政年份:
    2023
  • 负责人:
    Cathleen M Lutz
  • 依托单位:
Interrogation of Neurological Pathologies Associated with Mutations in Kif1a
  • 批准号:
    10728701
  • 项目类别:
  • 资助金额:
    $44.2万
  • 财政年份:
    2023
  • 负责人:
    Cathleen M Lutz
  • 依托单位:
Special Mouse Strains Resource
  • 批准号:
    10645429
  • 项目类别:
  • 资助金额:
    $41.01万
  • 财政年份:
    2022
  • 负责人:
    Cathleen M Lutz
  • 依托单位:
海外基金