Genetic Models of Ocular Disease and Biostatistics

项目概要-眼病的遗传模型和生物统计学 眼科疾病的遗传模型和生物统计学模块（原分子遗传学和生物统计学） 一直是为凯西眼科研究所的NEI资助的PI提供必要支持的中流砥柱。总目标 该模块的目的是为回答有关遗传机制背后的基本问题提供支持。 眼部疾病过去，这个核心提供了两项服务：（1）从血液样本、唾液 和组织。拥有专门的DNA分离设施，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，这使得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。项目包括分析复杂的基因表达 阵列和RNA-seq数据集，使用TMT标签的大型蛋白质组学研究，光学相干断层扫描（OCT） 和OCT血管造影术（OCTA）、生物信息学和临床研究。在保持这两个关键的 服务，眼部疾病的遗传模型和生物统计学核心已经扩大，提供两个额外的 资源：（3）对来自各种物种（包括人、非人、哺乳动物和哺乳动物）的细胞、组织和生物样品进行基因分型。 人灵长类、大鼠、小鼠和猪）。使用QuantStudio实时PCR仪和TaqMan进行基因分型 化学比传统的桑格DNA测序更具成本效益;和（4）建立原代细胞 来自眼组织的培养物以及来自眼病患者的成纤维细胞。在精确的时代 医学，重要的是提供核心服务，反映基因的个体变异性和识别基因 与各种眼部疾病相关的变异。此外，提供细胞培养和基因分型服务 允许进行功能基因型-表型研究。结合这四项服务， 研究人员应该精简他们的努力，以确定新的分子途径参与疾病，并应 促进眼科研究的创新途径，将新的想法从实验室迅速转化为患者床边。 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， 以及建立，研究人员在OHSU在获得NEI资金在未来5年。

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.