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

UAB 精密动物建模试点中心 (C-PAM) - 疾病建模单位

基本信息

批准号：
10260619
负责人：
ROBERT A KESTERSON
金额：
$ 90.04万
依托单位：
UNIVERSITY OF ALABAMA AT BIRMINGHAM
依托单位国家：
美国
项目类别：
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/10260619
关键词：
Alleles Animal Disease Models Animal Model Area Biochemical Genetics Bioinformatics Biological Caenorhabditis elegans Cardiovascular Diseases Cell physiology Clinical Clinical Sciences Communities Data Scientist Development Disease Disease Pathway Disease model Drug Screening Functional disorder Funding Opportunities Generations Genes Genetic Models Genetic Screening Genetic Structures Genetic Variation Genetic study Goals House mice Human Immune System Diseases In Vitro Institute of Medicine (U.S.)Intervention Modeling Molecular Mus Musculoskeletal Diseases Mutagenesis Mutation Neurodevelopmental Disorder Neurologic Pathogenesis Pathogenicity Pathway interactions Patients Phenotype Physiological Play Preclinical Testing Production Rattus norvegicus Research Research Personnel Resources Rodent Rodent Model Role Series Services Standardization Technology Testing Therapeutic Time Translational Research United States National Institutes of Health Variant Vision Zebrafish animal model development base ciliopathy clinical center cost cost effective experience gene function genetic resource genetic variant in vivo in vivo Model innovation insight interest loss of function mutation model development molecular phenotype mutant new technology novel novel therapeutics pre-clinical precision medicine repaired screening therapeutic evaluation treatment center

项目摘要

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.

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 精密动物建模中心 (C-PAM)：创建和验证创新的动物模型，从分子和层面概括患者疾病表型水平，以便我们更好地了解疾病发病机制并制作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意见，DMU 在模型生物（包括线虫、斑马鱼、小鼠和大鼠）中创建患者驱动的变异等位基因，以对怀疑引起疾病的指定人类变异进行功能分析。由此产生的创新模型在由资源分发之前经过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 的多个优势领域相关，包括纤毛病、凝聚力病和皮肤病，神经/神经发育、肌肉骨骼、心血管和免疫疾病。社区为遗传模型开发选定的提名项目从第二年开始，彻底生成模型由与 C-PAM 相关的研究人员团队和提名临床医生或研究人员为特征。