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Twins help unravel glaucoma genes

Scientists at QIMR Berghofer Medical Research Institute – and twins from across Queensland – have helped to identify genes associated with the most common form of glaucoma, the world’s leading cause of irreversible blindness.

Associate Professor Stuart MacGregor from QIMR Berghofer’s Statistical Genetics Laboratory said the findings by an international research team open the pathway for earlier diagnosis and more effective treatment for glaucoma patients.

“One study has uncovered three genetic markers linked to open angle glaucoma, and another has identified four genes associated with too much pressure developing in the eye – a major contributing factor to the disease,” Associate Professor MacGregor said.

“Open angle glaucoma is poorly understood and difficult to diagnose in the early stages, and these discoveries will help identify patients at greatest risk.

“Many cases remain undiagnosed until irreversible loss of vision has occurred.”

Glaucoma affects an estimated 300,000 Australians – but only half of those have been diagnosed.

Associate Professor MacGregor says better understanding of the genetic risks will enable new treatments to be developed and could delay progression of the disease and prevent blindness.

“As the population ages, glaucoma will become increasingly prevalent in Australia, and these findings will play an important role in reducing that disease burden,” Associate Professor MacGregor said.

More than 35,000 participants were examined as part of the studies world-wide, including 1,000 from the QTwin program at QIMR Berghofer.

Associate Professor MacGregor says their contribution is highly-valued by the research community.

“They have generously given their time to help find answers through genetics of some of the world’s most challenging health problems.”

The QIMR Berghofer portion of the research was funded in part by the National Health and Medical Research Council.

The studies have been published online in the international science journal Nature Genetics and are available below: