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

摘要（资源及服务组） UAB精确动物建模中心（C-PAM）的总体目标是建立临床前 科学发现，患者驱动的疾病建模，以及精准医疗中心临床 干预措施。C-PAM通过从变体提名到动物的七个阶段的管道来实现这一目标 模型表征和临床前治疗。资源和服务科通过以下方式支持C-PAM： 在管道的几个领域工作，以支持中心的使命，包括第四阶段：服务和 运输，V：表型分析，和VII：特殊服务。重要的是，RSS提供了增强的 阶段VII中的服务，这些服务在大多数单独的实验室中难以完成， 任何其他机制，或者在费用和/或时间障碍方面成本过高。的RSS 在C-PAM的所有其他组件和外部调查员之间提供桥梁。我们是检查站， 帮助确保质量控制、数据管理和数据输入到我们的生物信息学数据库和C-PAM中 变异门户。我们将DMU创建的模型存档并分发到NIH赞助的国家知识库 和/或外部调查员。我们促进我们的团队与双方之间的高层次，详细的科学对话 外部和内部研究人员，我们与 DMU和临床前/联合临床部分。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级表型分析中， 提供了新的生物学见解，并促进了动物模型的靶向治疗试验， 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 模型菌株和来自疾病模型单位的生物材料。这将包括啮齿动物（小鼠和大鼠）， zebrafish和C.优雅目标2）描述、扩展和分发由UAB C-PAM创建的资源。 目标3）提供由中心开发的独特C-PAM质量控制服务，按服务收费 基础这还将包括外联的一个组成部分，并将提供专家咨询服务， 研究人员设计最有效的功能测定和治疗测试策略。

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.