Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank
Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank
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DOI：
10.1111/ceo.12020
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发表时间：
2013-07-01
影响因子：
4
通讯作者：
Lamey, Tina M.
中科院分区：
文献类型：
--
作者：
De Roach, John N.;McLaren, Terri L.;Lamey, Tina M.
背景遗传性视网膜疾病是世界范围内导致失明和视力障碍的一个重要原因。随着新兴分子技术的发展，可访问和管理良好的遗传性视网膜疾病患者的数据储存库变得越来越重要。这份手稿介绍了这样一个储存库。设计参与者是从澳大利亚视网膜协会的会员中招募的，通过澳大利亚和新西兰皇家眼科学院，并通过招募到查尔斯·盖尔德纳爵士医院视觉电生理诊所的合适患者来招募。参与者招募了4,193名参与者。所有参与者都是先证者被诊断为遗传性视网膜疾病(不包括年龄相关性黄斑变性)的家庭成员。方法采用访谈法和查阅病历的方法收集患者的临床和家庭信息。2001年，我们开始收集西澳大利亚州参与者的DNA。2009年，这项活动推广到了整个澳大利亚。遗传分析结果在获得时被存储在登记簿中。主要结果指标主要结果指标是从澳大利亚遗传性视网膜疾病患者家族中收集的DNA样本数量(以及相关的表型信息)。结果从2873名受试者中获得DNA。视网膜色素变性、Stargardt病和Usher综合征患者分别占登记人数的61.0%、9.9%和6.4%。结论该资源是研究遗传性视网膜疾病病因的有价值的工具。随着新的分子技术被转化为临床应用，这个管理良好的临床和遗传信息库将变得越来越与确定特定基因临床试验的候选者等任务相关。
Background Inherited retinal disease represents a significant cause of blindness and visual morbidity worldwide. With the development of emerging molecular technologies, accessible and well-governed repositories of data characterising inherited retinal disease patients is becoming increasingly important. This manuscript introduces such a repository. Design Participants were recruited from the Retina Australia membership, through the Royal Australian and New Zealand College of Ophthalmologists, and by recruitment of suitable patients attending the Sir Charles Gairdner Hospital visual electrophysiology clinic. Participants Four thousand one hundred ninety-three participants were recruited. All participants were members of families in which the proband was diagnosed with an inherited retinal disease (excluding age-related macular degeneration). Methods Clinical and family information was collected by interview with the participant and by examination of medical records. In 2001, we began collecting DNA from Western Australian participants. In 2009 this activity was extended Australia-wide. Genetic analysis results were stored in the register as they were obtained. Main Outcome Measures The main outcome measurement was the number of DNA samples (with associated phenotypic information) collected from Australian inherited retinal disease-affected families. Results DNA was obtained from 2873 participants. Retinitis pigmentosa, Stargardt disease and Usher syndrome participants comprised 61.0%, 9.9% and 6.4% of the register, respectively. Conclusions This resource is a valuable tool for investigating the aetiology of inherited retinal diseases. As new molecular technologies are translated into clinical applications, this well-governed repository of clinical and genetic information will become increasingly relevant for tasks such as identifying candidates for gene-specific clinical trials.