THE GENETICS OF GLAUCOMA

青光眼的遗传学

• 批准号: nhmrc : 128202
• 负责人: Prof Paul Baird
• 金额: $ 25.5万
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2000
• 资助国家: 澳大利亚
• 起止时间: 2000-01-01 至 2002-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/genetics-glaucoma/101207
• 关键词: GENETICS; GLAUCOMA

Glaucoma is the second leading cause of blindness in the world affecting approximately 70 million people. Glaucoma can occur at any age but the commonest type occurs in middle to old age. The disease has a genetic basis and can be inherited. As a result we have been studying the genetics of the disease in two large families from Tasmania. We hope to identify the genes involved in disease causation using a number of genetic techniques. Once mutations in a disease gene have been identified from affected individuals we will then be in a position to look for mutations in other family members and identify those individuals at risk of developing disease. Improvements in our understanding of how these genes are involved in disease causation will allow us to offer diagnostic testing to the wider community and develop better therapeutic interventions for treatment.

青光眼是世界上第二大致盲原因，影响着大约7000万人。青光眼可发生在任何年龄，但最常见的类型发生在中老年。这种疾病有遗传基础，可以遗传。因此，我们一直在塔斯马尼亚的两个大家庭中研究这种疾病的遗传学。我们希望使用一些基因技术来识别与疾病病因有关的基因。一旦从受影响的个人身上发现了疾病基因的突变，我们就可以寻找其他家庭成员的突变，并识别那些有患病风险的个人。我们对这些基因如何参与疾病病因的理解的提高，将使我们能够向更广泛的社区提供诊断测试，并开发更好的治疗干预措施。