UAB Pilot Center for Precision Animal Modeling (C-PAM) - Resource and Service Section

摘要(资源和服务科) UAB精确动物建模中心(C-PAM)的总体目标是为临床前建立管道 科学发现、患者驱动的疾病建模与精准医学中心临床的发展 干预措施。C-PAM通过从突变体提名到动物的七个阶段的管道实现了这一点 模型特征和临床前治疗。资源和服务科(RSS)通过以下方式支持C-PAM 在多个领域开展工作，以支持中心的使命，包括第四阶段：服务和 发货，五：表型鉴定，七：特别服务。重要的是，RSS提供了增强的 第7阶段中的服务，这些服务在大多数单独的实验室中都难以实现，并且无法通过 任何其他机制，或在费用和/或时间障碍方面成本高得令人望而却步。RSS 在C-PAM中的所有其他组件和外部调查人员之间提供了一座桥梁。我们是一个检查站 帮助确保质量控制、数据管理以及将数据输入我们的生物信息学数据库和C-PAM 变量门户。我们将DMU创建的模型存档并分发到NIH赞助的国家存储库 和/或外部调查人员。我们促进了我们的团队和双方之间的高级别、详细的科学对话 外部和内部调查人员，我们与 DMU和临床前/联合临床科室。这些对话的目标是促成新的合作 在通过UAB核心资源设施验证变异致病性的详细二次表型中， 提供新的生物学见解，并促进对由 C-PAM管道。UAB C-PAM RSS的总体目标是：目标1)获取和记录突变动物 疾病模型组的模型菌株和生物材料。这将包括啮齿动物(小鼠和大鼠)， 斑马鱼和线虫。目的2)描述、扩展和分配由UAB C-PAM创建的资源。 目标3)提供该中心以收费方式开发的独特的C-PAM质量控制服务 基础。这还将包括外联的一部分，并将提供专家咨询服务以帮助 研究人员设计了最有效的功能分析和治疗测试策略。

ABSTRACT (RESOURCE AND SERVICE SECTION) The overall goal of the UAB Center for Precision Animal Modeling (C-PAM) is to establish pipelines for preclinical scientific discovery, patient-driven disease modeling, and development of precision medicine-center clinical interventions. C-PAM is accomplishing this through a seven-phase pipeline from variant nomination to animal model characterization and preclinical treatment. The Resource and Service Section (RSS) supports C-PAM by working in several areas of the pipeline to support the Center's mission including Phases IV: Services and Shipment, V: Phenotyping, and VII: Special Services. Importantly, the RSS provides access to enhanced services in Phase VII that are difficult to accomplish in most individual labs and are not readily available through any other mechanism, or are prohibitively costly in terms of both expense and/or time impediments. The RSS provides a bridge between all other components in C-PAM and outside investigators. We are a checkpoint that helps ensure quality control, data management, and data input into our Bioinformatics database and C-PAM Variant Portal. We archive and distribute models created by the DMU to NIH-sponsored national repositories and/or outside investigators. We facilitate high level, detailed scientific dialogues between our team and both external and internal investigators and we provide animals for phenotype assessment in collaboration with the DMU and the Pre/Co-clinical Section. The goal of these conversations is to lead to new collaborations resulting in detailed secondary phenotyping through UAB Core Resource facilities that validates variant pathogenicity, provides new biological insights, and promotes targeted therapeutics testing of the animal models generated by the C-PAM pipeline. The overall aims of the UAB C-PAM RSS are: Aim 1) Acquire and document mutant animal model strains and biomaterials from the Disease Modeling Unit. This will include rodents (mice and rats), zebrafish, and C. elegans. Aim 2) Characterize, expand, and distribute resources created by the UAB C-PAM. Aim 3) Provide access to unique C-PAM quality-controlled services developed by the Center on a fee-for-service basis. This will also include a component of outreach and will provide expert consultation services to help investigators design the most effective functional assays and therapeutic testing strategies.