Glaucoma is a neurodegenerative disease of the optic nerve and a leading cause of blindness while myopia, or short-sightedness, is the most common eye disease in the world.
Professor Mackey, who is speaking at the European Glaucoma Society meeting in the Spanish capital Madrid this week, achieved triple success as a genetics researcher with three papers he co-authored published in the prestigious international journal Nature Genetics.
“These discoveries stem from over a decade of work with the Glaucoma Inheritance Study in Tasmania (GIST) and the Twins Eye Study in Tasmania (TEST),” Professor Mackey said.
“Glaucoma is one of the leading causes of blindness in the world and myopia is very common and in epidemic proportions in the cities of East Asia so understanding the genetics of these two interrelated eye diseases is very important.”
The new glaucoma gene Caveolin was identified by a team at DeCODE genetics in Iceland, an island which is larger than Tasmania but has half the population.
The DeCODE team approached Professor Mackey to collaborate as the GIST was the one of the largest genetic studies of glaucoma in the world with more than 1,700 people with glaucoma and their families enrolled during the past 16 years.
With DNA from the GIST and the Australian Registry of Advanced Glaucoma based at Flinders University as well as groups from Europe and Asia, the international consortium confirmed Caveolin as a major glaucoma gene.
“Through understanding the pathway of this gene we hope to be able to develop new treatments for glaucoma and be able to predict those at greater risk. In conjunction with the twins research team at QIMR we also used DNA from 1,000 sets of twins seen in the Twins Eye Study to confirm whether specific component measures of glaucoma were associated with the new genes,” Professor Mackey said.
“In parallel studies, twins researchers in London and Rotterdam identified new genes for myopia and we used our Australian twin data to confirm the association of these two new genes: GJD2 and RASGRF1, which are both highly expressed in the retina suggesting that this is where myopia originates.”
Professor Mackey said the discovery would open new areas of research and treatment for short-sightedness, which was becoming a serious health issue in the cities of East Asia.