eyeGENE: The National Ophthalmic Genotyping and Phenotyping Network

The National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE®) is a genomic medicine initiative created by the National Eye Institute (NEI), part of the National Institutes of Health (NIH), in partnership with clinics and laboratories across the vision research community. The core mission of eyeGENE® is to facilitate research into the causes and mechanisms of rare inherited eye diseases and accelerate pathways to treatments. eyeGENE® was designed to achieve this goal through clinical and molecular diagnosis coupled with granting controlled access to clinical and genetic information in a data repository, to DNA in a biorepository, and to individuals consented to participate in research and clinical trials. The eyeGENE® Network currently includes a Coordinating Center at the NEI, CLIA†-approved molecular genetic testing laboratories around the Nation, a patient registry, controlled-access centralized biorepository for DNA, and a curated de-identified genotype / phenotype database. These components stimulate patient and eye health care provider interest in genetics-based clinical care and generate involvement in ophthalmic research, thereby accelerating vision research and treatment development for these diseases.

国家眼科疾病基因分型与表型分型网络（eyeGENE®）是由隶属于美国国立卫生研究院（National Institutes of Health, NIH）的美国国立眼科研究所（National Eye Institute, NEI），联合全国眼科研究领域的临床机构与实验室共同发起的基因组医学倡议。eyeGENE®的核心使命是推动罕见遗传性眼科疾病的致病原因与发病机制研究，并加快相关治疗手段的研发进程。该网络通过临床与分子诊断相结合的模式，同时为数据存储库中的临床及遗传信息、生物样本库中的脱氧核糖核酸（DNA）样本，以及已签署研究与临床试验知情同意书的受试者提供受控访问权限，以此达成这一目标。目前，eyeGENE®网络包含设于美国国立眼科研究所的协调中心、全国范围内获临床实验室改进修正案（Clinical Laboratory Improvement Amendments, CLIA）†认证的分子遗传检测实验室、患者登记系统、受控访问的集中式DNA生物样本库，以及经整理注释的去标识化基因型/表型数据库。上述组成部分可提升患者与眼科医疗服务提供者对基于遗传学的临床诊疗的关注度，并吸引更多人员参与眼科研究，从而加快此类疾病的眼科研究与治疗开发进程。

搜集汇总

背景与挑战

背景概述

eyeGENE 是由美国国家眼科研究所（NEI）主导的基因组医学计划，致力于构建一个包含数据和DNA样本的资源库，以推动罕见遗传性眼病的研究。该数据集目前已涵盖6000多名参与者、35种以上罕见眼病，并为经批准的研究提供对数据集和DNA样本的访问权限。