National Ophthalmic Disease Genotyping and Phenotyping Network - eyeGENE

eyeGENE网络旨在收集和管理分子诊断和表型临床数据，以促进视觉研究界的眼科疾病研究。个人已被招募到eyeGENE网络从学术中心，私人执业和NEI。转介眼科保健提供者被要求完成在线注册，获得知情同意，并确保将提供遗传咨询。表型/临床信息通过一个安全的基于网络的eyeGENE特异性数据库由眼科保健提供者输入。在咨询过程中，DNA被送到Network CLIA实验室进行特定疾病的分子诊断测试，而其余的则存储在eyeGENE Repository。 位于NEI的协调中心管理血液/DNA和基因型/表型数据的集中存储库。 协调中心还负责管理从参与诊所提交到网络CLIA认证实验室的患者的临床基因检测转介。CLIA实验室提供分子遗传学诊断报告，并将其纳入eyeGENE数据集，协调中心随后联系转诊临床医生并报告检测结果。一个外部指导委员会就与eyeGENE相关的科学、伦理和管理问题提供意见。 代表300多个临床组织的550多人在该网络注册。注册诊所招募患有眼部疾病的患者，包括：色盲，白化病，无虹膜和其他发育性眼部异常，Axenet-Rieger综合征，Best疾病，Bietti晶体角膜视网膜营养不良。无脉络膜症、慢性进行性眼外肌麻痹（CPEO）/Kearns-Sayre综合征（KSS）、视锥杆营养不良、先天性颅神经支配障碍疾病（CCDD）、先天性静止性夜盲、角膜营养不良、Doyne蜂窝状营养不良、家族性渗出性玻璃体视网膜病变、青光眼、Hermansky-Pudlak综合征、婴儿神经轴性营养不良（INAD）、青少年X连锁视网膜劈裂症、Leber遗传性视神经病变（LHON）、Lowe综合征、小眼症和无眼症、线粒体脑病、乳酸酸中毒和中风样癫痫（MELAS）、与破碎红纤维相关的肌阵挛癫痫（MERRF）、神经病、共济失调和色素性视网膜炎（NARP）、1型视神经萎缩、泛酸激酶相关神经病（PKAN）、模式性营养不良、色素性视网膜炎（RP）和其他视网膜变性疾病、视网膜母细胞瘤、Sorsby眼底营养不良、Stickler综合征和Stargardt病，Usher综合征。有6 000多名参与者参加，收集了30 000多个样本并储存在储存库中。 样本和相应的去识别临床和遗传信息可供视觉研究人员使用，并获得批准的研究项目。eyeGENE有19项正在进行的研究，要求获得数据和/或DNA样本，在某些情况下，eyeGENE一直是额外独立研究和治疗试验的招募工具。 eyeGENE网络是罕见病精准医疗的典范。 它也是基础广泛的社区伙伴关系的典范。

The eyeGENE Network was designed to gather and manage molecular diagnostic and phenotypic clinical data for use in facilitating ophthalmic disease research by the vision research community. Individuals have been recruited into the eyeGENE Network from academic centers, private practices and the NEI. Referring eye health care providers were required to complete an online registration, obtain informed consent and assure that genetic counseling will be provided. Phenotypic/clinical information was entered via a secure web-based eyeGENE-specific database by referring eye health care providers. In consultation, DNA was sent to Network CLIA labs for molecular diagnostic testing on specific disorders, while the remainder is stored at the eyeGENE Repository. The Coordinating Center, based at NEI, manages the centralized repository for blood/DNA and the genotype/phenotype data. The Coordinating Center also manages the referral of clinical genetic testing for patients submitted from participating clinics to a Network CLIA-certified lab. CLIA labs provide molecular genetic diagnostic reports which are incorporated into the eyeGENE data set, whereupon the Coordinating Center contacts the referring clinician and reports the test results. An external Steering Committee provides opinions regarding scientific, ethical, and management issues relating to eyeGENE. Over 550 individuals representing over 300 clinical organizations were registered with the Network. Registered clinics enrolled patients with eye conditions including: Achromatopsia, Albinism, Aniridia and other developmental eye anomalies, Axenfeld-Rieger Syndrome, Best Disease, Bietti's Crystalline Corneo-Retinal Dystrophy. Choroideremia, Chronic Progressive External Ophthalmoplegia (CPEO)/Kearns-Sayre Syndrome (KSS), Cone Rod Dystrophy, Congenital Cranial Dysinnervation Diseases (CCDD), Congenital Stationary Night Blindness, Corneal Dystrophy, Doyne Honeycomb Dystrophy, Familial Exudative Vitreal Retinopathy, Glaucoma, Hermansky-Pudlak Syndrome, Infantile Neuroaxonal Dystrophy (INAD), Juvenile X-linked Retinoschisis, Leber Hereditary Optic Neuropathy (LHON), Lowe Syndrome, Microphthalmia and Anophthalmia, Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS), Myoclonis Epilepsy associated with Ragged Red Fibers (MERRF), Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP), Optic Atrophy Type 1, Pantothenate Kinase-associated Neuropathy (PKAN), Pattern Dystrophy, Retinitis Pigmentosa (RP) and other retinal degenerative diseases, Retinoblastoma, Sorsby Fundus Dystrophy, Stickler Syndrome and Stargardt Disease, Usher Syndrome. Over 6,000 participants were enrolled and over 30,000 samples have been collected and stored in the repository. Samples and corresponding de-identified clinical and genetic information are available to vision researchers with an approved research project. eyeGENE has 19 active research studies that request access to data and/or DNA samples and in some cases eyeGENE has been a recruitment tool for additional independent studies and treatment trials. The eyeGENE Network serves as a model of precision medicine for rare diseases. It also serves as a model for broad-based community partnerships.