UAB Pilot Center for Precision Animal Modeling (C-PAM) - Coordination Section

UAB 精密动物模型试点中心 (C-PAM) - 协调部分

• 批准号: 10477302
• 负责人: Bradley K. Yoder
• 金额: $ 11.55万
• 依托单位: UNIVERSITY OF ALABAMA AT BIRMINGHAM
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-09-10 至 2025-08-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10477302
• 关键词: Accounting; Address; Affect; Animal Disease Models; Animal Model; Animals; Area; Basic Science; Benchmarking; Bioethics Consultants; Bioinformatics; Biological; Biological Models; Caenorhabditis elegans; Clinical; Clinical Informatics; Clinical Research; Clinical Sciences; Collaborations; Communication; Communities; Complex; Computational Science; Data Science; Development; Disease; Disease Progression; Disease model; Engineering; Ensure; Etiology; Evaluation; Fee-for-Service Plans; Future; Generations; Genes; Goals; Grant; Health; Human; Human Engineering; Human Genetics; Human Resources; IACUC; Individual; Informatics; Institutional Review Boards; Leadership; Legal; Measures; Medical Genetics; Medicine; Mission; Modeling; Mus; Occupations; Organizational Models; Pathogenesis; Pathogenicity; Patient Care; Patients; Performance; Phase; Phenotype; Procedures; Quality Control; Rare Diseases; Rattus; Reporting; Reproducibility; Research; Research Personnel; Resource Sharing; Resources; Running; Scientist; Seeds; Services; Ships; Strategic Planning; System; Technology; Testing; Therapeutic; Translational Research; United States National Institutes of Health; Variant; Vision; Work; Zebrafish; animal resource; authority; clinical center; clinical diagnosis; cost; diagnostic value; disease phenotype; experience; genetic variant; genome sequencing; human disease; improved; indexing; information model; innovation; insight; interdisciplinary approach; interest; meetings; member; multidisciplinary; novel; operation; organizational structure; outreach; patient advocacy group; phenotypic data; programs; recruit; social media; targeted treatment; voucher; web page; whole genome

ABSTRACT (COORDINATION SECTION) The vision for the UAB Pilot Center for Precision Animal Modeling (C-PAM) is to become a national resource to efficiently and cost-effectively analyze pathogenicity of gene variants identified in patients with rare disorders and to produce variant-specific models to pursue disease mechanisms and targeted therapeutics. Many potential disease-causing variants are being identified in patients due to the availability of whole genome sequencing technologies. The pace of identifying variants is now far outpacing the ability for individual labs to confirm their pathogenicity. Following identification, these variants require assessment and annotation to separate variants of no impact and simple sequencing and mapping errors from those that are causative of the disease. This is a complex problem to address requiring interdisciplinary approaches and a concerted effort to evaluate the variant. Part of this effort is to generate and analyze informative animal models. C-PAM has assembled a team of highly collaborative individuals with expertise in basic science, computational and data sciences, human genetics, clinical diagnosis, and animal model generation to tackle this problem. The C-PAM team has established a pipeline in which community nominated variants will be thorough analyzed using an innovative bioinformatic toolkit generated by the C-PAM Bioinformatics Section. If selected, the variant will be modeled in animals by the C-PAM Disease Modeling Unit. These new models will be evaluated for human disease relevance by the C-PAM Pre/Co-clinical Section. Once generated, C-PAM will facilitate the formation of expert collaborations to utilize the detailed informatic analyses and the animal resource that will be distributed through the C-PAM Resource and Services Section to advance our understanding of disease pathogenesis, to ascertain efficacy of novel or repurposed therapeutics, and to contribute to improved human health. For C-PAM to work efficiently and achieve its goals, the efforts of each component in the Center must be coordinated. This is the job of the C-PAM Coordination Section (CS) that will provide the overall organizational structure for the Center. It will synchronize the activity of each of the C-PAM components and provide management, administrative support, and leadership to ensure C-PAM components are working toward a common set of objectives. The CS will assemble oversight committees to prioritize nominated variants, to select animal models for generation, to evaluate the performance and impact of C-PAM, and to make strategic plans for the Center to fulfill its vision.

摘要（协调部分） UAB飞行员精密动物建模（C-PAM）的愿景是成为国家 资源有效，成本效率地分析了罕见患者的基因变异的致病性 疾病并产生特异性模型以追求疾病机制和靶向治疗。 由于整个基因组的可用性，患者正在发现许多潜在的引起疾病的变异 测序技术。现在，识别变体的步伐远远超过了单个实验室的能力 确认其致病性。识别后，这些变体需要评估和注释 与那些因果关系的单独的变体和简单的测序和映射错误 疾病。这是一个复杂的问题，要解决需要跨学科方法和一致努力的问题 评估变体。这项工作的一部分是生成和分析内容丰富的动物模型。 C-Pam有 组建了一个由高度协作的人组成的团队，具有基础科学，计算和数据方面的专业知识 科学，人类遗传学，临床诊断和动物模型的产生，以解决此问题。 C-PAM 团队已经建立了一条管道，在该管道中，将使用一个社区提名的变体进行彻底分析 C-PAM生物信息学部分生成的创新生物信息包。如果选择，变体将是 通过C-PAM疾病建模单元在动物中建模。这些新模型将对人类进行评估 C-PAM前/共同链接部分的疾病相关性。一旦生成，C-PAM将有助于形成 专家合作，以利用将分发的详细信息分析和动物资源 通过C-PAM资源和服务部分，以促进我们对疾病发病机理的理解， 确定新型或重新利用的治疗疗法的功效，并有助于改善人类健康。对于C-Pam 为了有效地工作并实现其目标，必须协调中心中每个组件的努力。这 是C-PAM协调部分（CS）的工作，它将为 中心。它将同步每个C-PAM组件的活动，并提供管理， 行政支持和领导才能确保C-PAM组件正在努力实现一组 目标。 CS将组装监督委员会，以优先考虑提名的变体，以选择动物模型 代表一代，评估C-PAM的绩效和影响，并制定战略计划，以使中心 实现其愿景。