Clinical and Genetic Analysis of Retinopathy of Prematurity

该项目的长期目标是确定视网膜病变的临床和遗传特征。 对早产儿(ROP)发育的影响，并分析它们之间的关系。虽然 生物医学研究数据正在以巨大的速度产生，工作量更少 已经完成了整合跨光谱的不同科学发现的工作 基因组学从成像到临床医学。我们的总体假设是基因 多种因素参与了ROP发病机制的启动和调控，并存在 ROP的临床、影像和遗传学表现之间的病因学关系。 这些假设将使用两个连续的特定目标进行测试：(1)招募， 表型，并从超过1460名早产儿的队列中收集遗传物质- 7个研究中心的ROP风险。数据将存储在基于Web的数据管理中 该系统将为该项目开发。的人口学和临床特征 全面落实三次系列检眼镜检查，系列检查范围广- 角度图像将被捕获。DNA将被分离出来，并准备用于基因分型。(2) 使用基于计算机的图像分析来量化视网膜血管特征，并分析 ROP的临床表现与影像表现的关系。集成的模型 数量影像性状、临床特征和环境风险因素对 将估计ROP敏感度。基因分型、基因分析、招募 如有需要，还将进行临床和遗传特征的建模。 在这个项目的竞争性续签期间。归根结底，这些研究应该得到改进 对ROP及相关眼部疾病和正常人新生血管的认识 婴儿的血管发育。此外，这项工作还应该演示一个原型 用于结合基因型别和表型数据的健康信息管理。 该项目将由一个由多学科合作调查人员组成的团队执行 拥有临床眼科、生物医学信息学、基因分析和 统计遗传学。

The long-term goal of this project is to identify clinical and genetic features of retinopathy of prematurity (ROP) development, and to analyze their relationships. Although biomedical research data are being generated at an enormous pace, much less work has been done to integrate disparate scientific findings across the spectrum from genomics to imaging to clinical medicine. Our overall hypotheses are that genetic factors are involved in the initiation and modulation of ROP pathogenesis, and that there are etiological relationships among clinical, imaging, and genetic findings in ROP. These hypotheses will be tested using two sequential Specific Aims: (1) Recruit, phenotype, and collect genetic material from a cohort of over 1460 premature infants at- risk for ROP from 7 study centers. Data will be stored in a web-based data management system that will be developed for this project. Demographic and clinical features from three serial ophthalmoscopic examinations will be ascertained fully, and serial wide- angle images will be captured. DNA will be isolated and prepared for genotyping. (2) Quantify retinal vascular features using computer-based image analysis, and analyze relationships between clinical and image findings in ROP. Models for integrating the effects of quantitative image traits, clinical features, and environmental risk factors on ROP susceptibility will be estimated. Genotyping, genetic analysis, recruitment of additional subjects as needed, and modeling of clinical and genetic traits will be pursued during competitive renewal of this project. Ultimately, these studies should improve understanding of neovascularization in ROP and related ocular diseases, and of normal vascular development in infants. In addition, this work should demonstrate a prototype for health information management which combines genotypic and phenotypic data. This project will be performed by a multi-disciplinary team of collaborative investigators with expertise in clinical ophthalmology, biomedical informatics, genetic analysis, and statistical genetics.