Molecular and Cellular Biology Division, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Asia Pac J Ophthalmol (Phila). 2022;11(4):360-368. doi: 10.1097/APO.0000000000000535. Epub 2022 Jul 28.
Japan Eye Genetics Consortium (JEGC) was established in 2011 to migrate research system to all-Japan structure for collecting phenotype-genotype information for inherited retinal diseases and other retinal diseases including hereditary optic neuropathy and hereditary glaucoma. Diagnostic team was assembled to maintain quality of diagnostic and to collect phenotype information to database in Tokyo Medical Center (TMC). Over the past 10 years, 1538 pedigree [2788 deoxyribonucleic acid (DNA) samples] was collected from 38 ophthalmology departments and eye hospitals. Whole exome analysis has improved diagnostic rate from ~17% in 2011 to 53% in 2021, with 27% of known variants, 18% of novel variants in known gene, 8% of potential novel disease-causing genes, and 47% of pedigree with unknown cause. Approximately 70% of Japanese patients were affected by novel mutation or by unknown cause. In 2014, Asian Eye Genetics Consortium (AEGC) was established by researchers from Hong Kong, India, Japan, and the US, later renamed to Global Eye Genetics Consortium (GEGC) to expand the idea of collaborative research on rare genetic eye diseases in Asia, Middle East, Africa, and South America. GEGC phenotype-genotype database, GenEye, was constructed to collect and catalog genetic eye diseases at global scale. Over 200 members from 30 countries, GEGC now has 200 members from 30 continents, performing scientific programs, young investigator visiting program, and GEGC organized session at the meetings of the Asia-Pacific Academy of Ophthalmology (APAO), The Association for Research in Vision and Ophthalmology (ARVO), All India Ophthalmological Society (AIOS), World Ophthalmology Congress (WOC), and International Society for Eye Research (ISER).
日本眼遗传学联盟（JEGC）成立于 2011 年，旨在将研究系统迁移到全日本结构，以收集遗传性视网膜疾病和其他视网膜疾病（包括遗传性视神经病变和遗传性青光眼）的表型-基因型信息。诊断团队成立的目的是为了保持诊断质量，并将表型信息收集到东京医疗中心（TMC）的数据库中。在过去的 10 年中，该团队从 38 个眼科部门和眼医院收集了 1538 个家系[2788 个脱氧核糖核酸（DNA）样本]。全外显子组分析将诊断率从 2011 年的~17%提高到 2021 年的 53%，其中 27%为已知变异，18%为已知基因中的新变异，8%为潜在的新致病基因，47%的家系原因不明。大约 70%的日本患者受到新突变或未知原因的影响。2014 年，由来自香港、印度、日本和美国的研究人员成立了亚洲眼遗传学联盟（AEGC），后来更名为全球眼遗传学联盟（GEGC），以扩大亚洲、中东、非洲和南美洲罕见遗传性眼病合作研究的理念。GEGC 表型-基因型数据库 GenEye 构建完成，用于在全球范围内收集和编目遗传性眼病。该联盟有来自 30 个国家的 200 多名成员，现在有来自 30 个大陆的 200 名成员，开展科学项目、青年研究员访问计划，并在亚太眼科学会（APAO）、美国视觉与眼科研究协会（ARVO）、全印度眼科协会（AIOS）、世界眼科大会（WOC）和国际眼研究协会（ISER）的会议上组织了 GEGC 专场。
