UAB Pilot Center for Precision Animal Modeling (C-PAM) - Disease Modeling Unit

摘要（疾病建模单元） C-PAM疾病建模单位（DMU）通过以下方式支持UAB精确动物建模中心（C-PAM）： 创建和验证创新的动物模型，在分子和生物学水平上再现患者疾病， 表型水平，以便我们可以更好地了解疾病的发病机制，并建立高度相关的模型 准备进行临床前测试。根据临床前、生物信息学和协调部门的输入，DMU 在包括C.线虫、斑马鱼、小鼠和大鼠， 功能性分析疑似致病的指定人类变异。由此产生的创新模式 在资源分配之前接受严格和标准化的表型表征， 服务科。DMU最初侧重于与疾病模型和途径相关的示范项目 与UAB的几个优势领域相关，包括纤毛病、黏连病和拉索病， 神经/神经发育、肌肉骨骼、心血管和免疫病症。社区 选定用于遗传模型开发的提名项目开始于第2年， 由与C-PAM相关的研究者团队和提名的临床医生或研究者表征。

ABSTRACT (DISEASE MODELING UNIT) The C-PAM Disease Modeling Unit (DMU) supports the UAB Center for Precision Animal Modeling (C-PAM) by creating and validating innovative animal models that recapitulate patient disease at both molecular and phenotypic levels so that we can better understand disease pathogenesis and make highly relevant models ready for preclinical testing. Based on input from Preclinical, Bioinformatics, and Coordinating Sections, the DMU creates patient driven variant alleles in model organisms including C. elegans, zebrafish, mice, and rats to functionally analyze nominated human variants suspected of causing disease. The resulting innovative models are subject to rigorous and standardized phenotypical characterization prior to distribution by the Resource and Services Section. The DMU focuses initially on demonstration projects related to disease models and pathways associated with several areas of strength at UAB including ciliopathies, cohesionopathies, and rasopathies, neurological/ neurodevelopmental, musculoskeletal, cardiovascular, and immunological disorders. Community nominated projects selected for genetic model development begin in year 2 with generated models thoroughly characterized by the team of investigators associated with C-PAM and the nominating clinician or researcher.