Identifying glaucoma risk variants in the Norfolk island genetic isolate

原发性开角型青光眼是最常见的青光眼类型。在这个项目中，我们将专注于识别影响这种疾病发展的功能性遗传变异，使用一个强大的完整外显子组测序方法，从诺福克岛种群隔离的一个大的多世代家系中进行。确定影响青光眼发展的基因将提供宝贵的线索，以帮助确定这种常见疾病的病理生理学。

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.