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

UAB 精密动物建模试点中心 (C-PAM)

基本信息

批准号：
10661435
负责人：
Matthew Brendon Might
金额：
$ 10.45万
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/10661435
关键词：
Address Animal Disease Models Animal Model Animals Basic Science Bioinformatics Biological Characteristics Clinical Clinical Data Clinical Distribution Clinical Research Clinical Sciences Clinical assessments Collaborations Collection Communities Complex Computational Science Cost Effectiveness Analysis Data Science Data Set Decision Making Diagnosis Disease Disease model Drug Targeting Etiology Face Family Functional disorder Future Generations Genes Genetic Polymorphism Genome Genomic medicine Goals Health Human Human Genetics Individual Informatics Inheritance Patterns Institute of Medicine (U.S.)Knowledge Laboratories Methodology Mission Modeling Molecular Pathogenesis Pathogenicity Pathway interactions Patient Care Patients Phenotype Quality of life Rare Diseases Recording of previous events Reporting Research Research Personnel Resources Scientist Sequence Analysis Series Services Technology Testing Therapeutic Translational Research United States National Institutes of Health Variant Vision animal resource base bioinformatics infrastructure bioinformatics pipeline bioinformatics tool causal variant clinical center clinical diagnosis clinical phenotype clinically actionable cost diagnostic tool expectation gene function genetic variant genome sequencing genomic data human disease improved innovation inter-institutional interdisciplinary approach interest novel novel therapeutic intervention outreach program patient advocacy group phenotypic data precision medicine prevent programs protein function recruit targeted treatment therapeutic evaluation therapeutic target variant of unknown significance whole genome

项目摘要

ABSTRACT (OVERALL) With the rapid increase in the number of potential variants being identified through whole genome sequencing technologies in patients with rare disorders, the challenge for geneticists is now to confirm that these variants are causative of the phenotype. This requires detailed assessment and annotation to separate the causative variant from those that are simple nonsignificant polymorphisms and sequencing or mapping errors. This is a complex problem to address requiring interdisciplinary approaches, detailed bioinformatic analysis, the generation of informative animal models, and a concerted effort to evaluate the variants. Accomplishing this goal is frequently beyond what an individual lab can easily or efficiently accomplish. In this regard, the Center for Clinical and Translational Science and the Precision Medicine Institute assembled a team of scientists and clinicians with expertise in basic research, computational and data sciences, human genetics, clinical diagnosis, and animal model generation to form the UAB Center for Precision Animal Modeling (C-PAM). The team has established a pipeline in which research and clinical community nominated variants will be thoroughly analyzed using an innovative bioinformatic toolkit generated by the C-PAM Bioinformatics Section. Selected variants will be modeled in animals by the C-PAM Disease Modeling Unit and the new models evaluated for human disease relevance by clinicians in the C-PAM Pre/Co-clinical Section. Once generated, C-PAM established collaborations will 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. C-PAM will leverage and organize our already existing expertise to fulfill our vision to become a national resource for efficient and cost-effective analysis of pathogenicity of gene variants identified in patients with rare disorders and to produce informative animal models to pursue disease mechanisms and targeted therapeutics.