Identifying glaucoma risk variants in the Norfolk island genetic isolate

识别诺福克岛基因分离株中的青光眼风险变异

• 批准号: nhmrc : 1058806
• 负责人: A/Pr Rod Lea
• 金额: $ 43.91万
• 依托单位: Queensland University of Technology
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2014
• 资助国家: 澳大利亚
• 起止时间: 2014-01-01 至 2017-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/identifying-glaucoma-risk-genetic-isolate/454705
• 关键词: Identifying; glaucoma; risk; variants; Norfolk

Primary open angle glaucoma is the most common form of glaucoma. In this project we will focus on the identification of functional genetic variants influencing development of this disorder, using a powerful whole exome sequencing approach in a large multigenerational pedigree from the Norfolk Island population isolate. The identification of genes influencing glaucoma development would provide invaluable clues to aid in defining the pathophysiology of this common disease.

原发性开角型青光眼是青光眼最常见的形式。在这个项目中，我们将集中在识别影响这种疾病的发展的功能性遗传变异，使用一个强大的全外显子组测序方法在一个大的多代谱系从诺福克岛人口隔离。鉴定影响青光眼发展的基因将为帮助确定这种常见疾病的病理生理学提供宝贵的线索。