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中文摘要
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项目概要协调核心 杰克逊实验室(JAX)精密遗传学中心(JCPG)汇集了一个多学科团队, 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 经验丰富的资源经理。协调核心(以下简称核心)的目的是确保 所有参与者之间的富有成效的互动,并监督和促进所有行政和科学 JCPG的功能。这一职能是在联合协调小组主任和方案的指导下执行的。 经理与指导委员会(SC)和外部咨询委员会(EAB)协商。 联合政治协商小组的有效协调将通过实现四个具体目标来实现: AIM 1.通过强有力的行政管理和 技术监督。这包括:i)促进提名疾病建模项目的过程,ii) 确保生物信息学核心、疾病建模单元和临床前/合作中心的综合运作 核心,iii)促进JCPG的所有内部和外部沟通,iv)协调SC的活动 和EAB,以及,v)协调所有JCPG记录的制作和提交,以满足内部和外部 报告要求。 AIM 2.通过有效沟通促进中心生产力和科学协同。在这个角色中 核心负责组织联合中央政策小组领导层、顾问和 外部利益相关者。所有会议的目的是跟踪目标和里程碑的进展情况, 遵循一个定期的时间表,并根据需要补充临时聚会。 AIM 3.实施和完善用于评价和优先排序变异提名的决定框架。 JCPG的一个核心功能是为人类遗传变异的提名提供一个面向公众的过程 没有现有的哺乳动物研究模型,或者现有的模型不适合。的 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JAX网站(www.jax.org)上。这些提名将经过审查程序, 可行性,科学和社区的需要,然后优先考虑提名进入管道模型 生产JCPG项目经理将在整个过程中直接与被提名人沟通。 AIM 4.外展和对外交流。联合政治协商小组的影响直接关系到 已被提名并完成开发的项目。最大限度地提高所有潜在实体的认识, 可能需要新的小鼠模型进行研究和测试,我们将:i)利用现有的广泛网络, 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接触, 模型和,ii)采用JAX小鼠,临床和研究的广泛营销和推广基础设施 服务(JMCRS),使全世界认识到JCPG的活动,模型,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