Grant: Operating Grant

The term "glaucoma" encompasses a large group of eye diseases characterized by a special type of blindness that starts from the periphery of our vision. The most common form of glaucoma is primary open-angle glaucoma. It affects 2 % of the Canadian population aged over 40 years old, or about 300,000 Canadians. Because primary open-angle glaucoma is painless and progress very slowly, almost a third of the persons who are sick, do not know that they have the disorder and are becoming blind. At least 30 genes cause glaucoma but only a few of them have been identified. They have names like myocilin, optineurin, WDR36, NTF-4 and FOXC1. During the past 10 years, our research group has been following a large number of glaucoma families. Our team discovered a few years ago that many old individuals have still their vision healthy despite the fact that they were carrying mutations in the myocilin gene which is causing aggressive forms of glaucoma. These elders should be severely affected but they showed no signs of glaucoma. Our finding raised the interesting hypothesis that "good" glaucoma genes, named protective modifier genes, maintain our vision healthy by preventing the effects of the "bad" glaucoma genes, like myocilin. The goal of our research project is to identify these "good" modifier genes using two very large glaucoma families. We will first localize these modifier genes within small regions of our DNA. Once this mapping is done, we will characterize these good genes by exploiting the new science of genomics. Identification of these 'good' glaucoma genes will offer powerful approaches for discovering novel drugs to treat and perhaps prevent glaucoma effectively. Their identification will also help to understand how the "good" glaucoma genes prevent blindness in people who should have been affected.