THE GENETICS OF GLAUCOMA

青光眼是世界上第二大致盲原因，影响了大约7000万人。青光眼可以发生在任何年龄，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，我们一直在研究来自塔斯马尼亚的两个大家庭的这种疾病的遗传学。我们希望利用一些遗传技术来确定与致病有关的基因。一旦从受影响的个体中确定了疾病基因的突变，我们就可以在其他家庭成员中寻找突变，并确定那些有患病风险的个体。我们对这些基因如何参与疾病因果关系的理解的改进将使我们能够为更广泛的社区提供诊断测试，并开发更好的治疗干预措施。

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.