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

点击翻译按钮获取中文摘要

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.