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，从分子和分子两个方面概括患者疾病 表型水平，以便我们更好地了解疾病的发病机制，并建立高度相关的模型 准备好进行临床前测试。根据临床前、生物信息学和协调部门的投入，DMU 在包括线虫、斑马鱼、小鼠和大鼠在内的模式生物中创建患者驱动的变异等位基因 从功能上分析被怀疑导致疾病的指定人类变种。由此产生的创新模式 在由资源分发之前，必须经过严格和标准化的表型表征 服务组。DMU最初专注于与疾病模型和路径相关的示范项目 与UAB的几个优势领域相关，包括纤毛疾病、内聚疾病和类风湿疾病， 神经/神经发育、肌肉骨骼、心血管和免疫学疾病。社区 被选中用于遗传模型开发的提名项目从第二年开始，彻底地生成模型 以与C-PAM相关的研究团队和提名的临床医生或研究人员为特征。

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.