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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：
10793200
负责人：
Matthew Brendon Might
金额：
$ 44.74万
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/10793200
关键词：
Address Alleles Animal Disease Models Animal Model Animals Area Basic Science Biochemical Bioinformatics Biological Caenorhabditis elegans Cardiovascular Diseases Cell physiology Clinical Clinical Distribution Clinical Sciences Collaborations Communities Complex Computational Science Cost Effectiveness Analysis Data Science Data Scientist Development Disease Disease Pathway Disease model Drug Screening Face Functional disorder Funding Opportunities Generations Genes Genetic Genetic Models Genetic Polymorphism Genetic Screening Genetic Variation Genetic study Goals Health House mice Human Human Genetics Immune System Diseases In Vitro Individual Informatics Institute of Medicine (U.S.)Institution Intervention Maps Modeling Molecular Mus Musculoskeletal Diseases Mutagenesis Mutation Neurodevelopmental Disorder Parents Pathogenesis Pathogenicity Pathway interactions Patients Phenotype Physiological Play Preclinical Testing Production Rare Diseases Rattus Rattus norvegicus Reporting Research Research Personnel Resources Rodent Rodent Model Role Scientist Series Services Standardization Technology Testing Therapeutic Time Translational Research United States National Institutes of Health Variant Vision Zebrafish animal model development animal resource bioinformatics tool causal variant ciliopathy clinical center clinical diagnosis clinically actionable cost cost effective experience gene function genetic resource genetic selection genetic variant genome sequencing human disease improved in vivo in vivo Model innovation insight interdisciplinary approach interest loss of function mutation model organism mutant nervous system disorder new technology novel novel therapeutics pre-clinical precision medicine programs repaired screening targeted treatment therapeutic evaluation therapeutic target treatment center variant of interest variant of unknown significance virulence gene whole genome

项目摘要

ABSTRACT (Original Application) 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.

摘要（原申请）