P30 Core Grant for Vision Research

P30 视觉研究核心资助

• 批准号: 10240749
• 负责人: Kinga Bujakowska
• 金额: $ 9.74万
• 依托单位: MASSACHUSETTS EYE AND EAR INFIRMARY
• 依托单位国家: 美国
• 财政年份: 2002
• 资助国家: 美国
• 起止时间: 2002-09-01 至 2024-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10240749
• 关键词: Address; Animal Model; Biological Assay; Biological Models; Breeding; CRISPR/Cas technology; Core Grant; Disease; Ear; Embryo; Ensure; Eye; Eye diseases; Fishes; Genes; Genetic Diseases; Genetic study; Goals; Guide RNA; Human; Human Development; Human Genetics; Inherited; Injections; Massachusetts; Measurement; Microinjections; Molecular; Mus; Mutation; Other Genetics; Physiologic Intraocular Pressure; Proteins; Research Personnel; Resource Allocation; Resources; Role; Scientist; Structure; System; Techniques; Tissues; Training; Vision; Vision research; Visual Acuity; Zebrafish; career; career development; cost effective; design; disease-causing mutation; functional genomics; gene discovery; genetic manipulation; genetic variant; human disease; human model; protein function; ranpirnase

Project Summary – Functional Genomics Core A critical step in the discovery of disease-related genes is demonstrating the functional effects of putative disease-causing mutations. This is particularly challenging when the protein function is not known or a role for the protein in ocular tissues has not previously been established. Zebrafish (Danio rerio) are a cost-effective model organism to study functional effects of genomic variants. Zebrafish have a number of advantages over other genetic systems for the study of human development and disease and have been used to characterize the basis of many human genetic disorders. Compared with mice, zebrafish husbandry, breeding and genetic manipulation are more efficient and less expensive. The structure and function of the zebrafish eye is similar to humans and zebrafish have been used as an important model organism for the study of genetic and environmental eye diseases including those disorders investigated at the Massachusetts Eye and Ear (MEE). The purpose of the Functional Genomics core is to provide expert assistance using zebrafish as a model system to demonstrate functional effects of human disease-related gene variants and to model human inherited ocular disorders. This is a new core that is addressing a critical need for functional genomics for the vision investigators at MEE heavily engaged in disease gene discovery and characterization. The core will provide zebrafish husbandry and will assist investigators with project planning including morpholino design and design of guide RNAs for CRISPR/cas9 gene editing, training for zebrafish embryo injection and other manipulations and characterization of genetically modified fish.

项目摘要 - 功能基因组核心 发现与疾病相关基因的关键步骤是证明 假定的致病突变。当蛋白质功能不是 以前尚未确定蛋白质中蛋白质的已知或作用。斑马鱼（Danio） rerio）是一种具有成本效益的模型生物，用于研究基因组变异的功能效应。斑马鱼 比其他遗传系统具有许多优势，用于研究人类发展和 疾病并已被用来表征许多人类遗传疾病的基础。比较的 对于小鼠，斑马鱼饲养，育种和遗传操纵更加有效，更少 昂贵的。斑马鱼的结构和功能与人类相似，斑马鱼具有 被用作研究遗传和环境眼部疾病的重要模型生物 包括在马萨诸塞州的眼睛和耳朵（MEE）调查的那些疾病。目的 功能基因组学核心是使用斑马鱼作为模型系统提供专家协助 展示了与人类疾病相关的基因变异的功能效应，并为人类遗传建模 眼部疾病。这是一个新的核心，正在解决对功能基因组学的关键需求 MEE的视力研究人员大量参与了疾病的基因发现和表征。这 核心将提供斑马鱼饲养，并将协助调查人员进行项目计划 Morpholino设计和设计和设计RNA的CRISPR/CAS9基因编辑，斑马鱼培训 胚胎注射和其他操纵以及一般修饰的鱼的表征。