Genomic signposts, high-resolution sequencing and novel genes in eye disease

眼部疾病的基因组路标、高分辨率测序和新基因

• 批准号: nhmrc : 1008194
• 负责人: Prof Robyn Jamieson
• 金额: $ 22.25万
• 依托单位: The University of Sydney
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2011
• 资助国家: 澳大利亚
• 起止时间: 2011-01-01 至 2013-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/genomic-signposts-high-eye-disease/109287
• 关键词: Genomic; signposts; resolution; sequencing; novel

Blindness is a very distressing sensory loss. Hereditary eye disorders account for the vision impairment in at least one-third of people who are registered as blind. These disorders cause blindness from a young age and work productivity is significantly impaired. This project will identify novel genetic factors in blinding eye disorders. Identifying these genetic factors will lead to better early detection methods for people and improved treatments to prevent the blindness.

失明是一种非常令人痛苦的感觉丧失。遗传性眼病是至少三分之一登记为盲人的人视力受损的原因。这些疾病从小就会导致失明，工作效率会受到严重损害。该项目将确定失明眼病的新遗传因素。识别这些遗传因素将为人们带来更好的早期检测方法，并改进治疗以防止失明。