Genetic Models of Ocular Disease and Biostatistics

眼部疾病的遗传模型和生物统计学

• 批准号: 10250836
• 负责人: Mary K Wirtz
• 金额: $ 18.4万
• 依托单位: OREGON HEALTH & SCIENCE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-05-01 至 2025-08-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10250836
• 关键词: Age; Algorithms; Angiography; Animal Model; Applications Grants; Basic Science; Biocompatible Materials; Bioinformatics; Biological; Biometry; Biostatistics Core; Blood specimen; Cadaver; Cell Culture Techniques; Cells; Chemistry; Clinical Research; Clinical Trials; Complement; Complex; Core Facility; Cultured Cells; DNA; DNA sequencing; Data; Data Analyses; Data Set; Dideoxy Chain Termination DNA Sequencing; Disease; Ensure; Environment; Exposure to; Eye; Eye diseases; Family; Family suidae; Fibroblasts; Funding; Gene Chips; Gene Expression; Genes; Genetic; Genetic Models; Genotype; Glaucoma; Goals; Grant; Health Sciences; Human; Hydrophthalmos; Institutes; Lymphocyte; Methods; Modeling; Molecular; Molecular Genetics; Mus; Ophthalmology; Optical Coherence Tomography; Oregon; Pathway interactions; Patients; Peripheral; Phase; Phenotype; Primary Cell Cultures; Primary Open Angle Glaucoma; Proteomics; Publications; Rattus; Research; Research Design; Research Personnel; Resources; Retinal Dystrophy; Retinitis Pigmentosa; Retinopathy of Prematurity; Saliva; Sampling; Scientist; Services; Sjogren' s Syndrome; Stargardt' s disease; Statistical Data Interpretation; Techniques; Time; Tissues; Trabecular meshwork structure; Translating; Universities; Uveitis; Vertebral column; age related; cost effective; data submission; disorder of macula of retina; genetic analysis; genetic pedigree; genetic variant; individual variation; innovation; instrument; interest; nonhuman primate; novel; precision medicine; research study; success; transcriptome sequencing

PROJECT SUMMARY - GENETIC MODELS OF OCULAR DISEASE & BIOSTATISTICS The Genetic Models of Ocular Disease & Biostatistics module (formerly Molecular Genetics and Biostatistics) has been a mainstay providing essential support to NEI-funded PIs at the Casey Eye Institute. The overall goal of this module is to provide support for answering fundamental questions about the genetic mechanisms behind ocular disease. In the past, this core has provided two services: (1) DNA isolation from blood samples, saliva and tissue. Having a dedicated facility for the isolation of DNA ensures maximal DNA yield from patient material and reduces exposure to hazardous biological materials; 2) support for biostatistical analyses, which allows NEI investigators access to the most advanced statistical techniques ensuring that the appropriate methods are used both in the study design phase as well as for data analysis. Projects include analysis of complex gene expression arrays and RNA-seq datasets, large proteomics studies using TMT tags, optical coherence tomography (OCT) and OCT angiography (OCTA), bioinformatics and clinical research studies. While maintaining these two critical services, the Genetic Models of Ocular Disease & Biostatistics core has been expanded to offer two additional resources: (3) genotyping of cell, tissue and biological samples from a variety of species (including human, non- human primates, rat, mouse and pig). Genotyping using the QuantStudio real-time PCR machine and TaqMan chemistry is more cost-effective than traditional Sanger DNA sequencing; and (4) Establishing primary cell cultures from ocular tissues, as well as fibroblasts from patients with ocular disease. In the age of precision medicine, it is important to offer core services that reflect individual variability in genes and identifying gene variants associated with various ocular diseases. Moreover, offering both cell culture and genotyping services allows functional genotype-phenotype studies to be performed. Combined, these four services will enable our researchers to streamline their efforts to identify new molecular pathways involved in disease and should catalyze innovative avenues of ocular research to rapidly translate novel ideas from bench to patient bedside. Continuation of the Genetic Models of Ocular Disease & Biostatistics core will be instrumental in assisting new, as well as established, investigators at OHSU in obtaining NEI funding in the next 5 years.

项目摘要-眼病的遗传模型和生物统计学 眼科疾病的遗传模型&生物统计学模块(原分子遗传学和生物统计学) 一直是凯西眼科研究所为NEI资助的PI提供基本支持的中流砥柱。总目标 本模块的目的是为回答有关遗传机制的基本问题提供支持 眼疾。在过去，这个核心提供了两项服务：(1)从血液样本、唾液中提取DNA 和纸巾。拥有专门的DNA分离设备，确保从患者材料中获得最大的DNA产量 并减少接触危险生物材料；2)支持生物统计分析，使NEI 调查人员获得最先进的统计技术，确保使用适当的方法 无论是在研究设计阶段还是在数据分析阶段。项目包括复杂基因表达的分析 阵列和RNA-SEQ数据集、使用TMT标签的大型蛋白质组学研究、光学相干层析成像(OCT) 以及OCT血管成像(OCTA)、生物信息学和临床研究。在保持这两个关键因素的同时 服务，眼疾遗传模型和生物统计学核心已经扩展到提供另外两个 资料来源：(3)各种物种的细胞、组织和生物样本的基因分型(包括人类、非 人类灵长类动物、老鼠、老鼠和猪)。使用QuantStudio实时荧光PCR机和TaqMan进行基因分型 化学比传统的桑格DNA测序更具成本效益；以及(4)建立原代细胞 眼组织培养，以及眼部疾病患者的成纤维细胞培养。在精准的时代 在医学方面，重要的是提供核心服务，反映基因和识别基因的个体差异 与各种眼部疾病相关的变异。此外，还提供细胞培养和基因分型服务 允许进行功能性的基因型-表型研究。这四项服务加在一起，将使我们的 研究人员将简化他们的工作，以确定与疾病有关的新分子途径，并应 催化眼科研究的创新途径，将新的想法从长凳上迅速转化到患者床边。 眼科疾病遗传模型和生物统计学核心的延续将有助于帮助新的、 此外，OHSU的调查人员将在未来5年内获得NEI资金。