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The genes associated with common eye diseases such as glaucoma and myopia are the focus of a unique collaboration between three of the world’s top ophthalmologists.

Winthrop Professor David Mackey , Winthrop Professor David Mackey, Managing Director and Chair of UWA’s Centre for Ophthalmology and Visual Science and head of the Lions Eye Institute (LEI), Professor Chris Hammond from King’s College London, and Professor Terri Young from Duke University in the United States have been collaborating for almost 10 years on a range of research projects.

Their current focus is the genetics of glaucoma and myopia looking at the measures associated with these diseases in several cohorts including the UK and Australian Twins Eye Studies and the WA Raine Eye Health Study.

“When I started my work in myopia genetics I was pleased to be able to collaborate with Chris – the world leader in eye studies of twins, and Terri – the world leader in myopia family studies,” Professor Mackey said.

Professor Hammond and Professor Young have just completed an intensive series of lectures and student teaching programs at UWA as Raine Visiting Professors.

Professor Hammond’s lecture focused on the TwinsUK Cohort – the most phenotyped and genotyped cohort in the world involving more than 6,000 subjects.

He discussed his work on glaucoma – the most common untreatable cause of blindness in the world affecting 10 per cent of people over the age of 80 – using data from TwinsUK.

Professor Young is Professor of Ophthalmology, Paediatrics and Medicine at Duke University in North Carolina. Her laboratory has identified several genes involved in myopia.

Her Raine lecture focused on myopia genetics with near-sightedness – the most common refractive error eye disorder in the world.

High-grade levels of myopic refractive error are associated with an increased risk of other serious eye disorders, including premature cataracts, glaucoma, retinal detachment and macular chorio-retinal degeneration.

Professor Hammond said the trio were looking to identify the genes for common eye disorders such as glaucoma and myopia.

“The numbers of people needed to detect the role of different genes in diseases like glaucoma and myopia are massive,” he said.

“We are trying to determine how much the development of these diseases is inherited and how much is environmental, as well as the environmental factors that may switch on genes for a certain disease.

“Using identical twins allows us to test the nature versus nurture theory – whether a condition is caused by genetics or environment and we are making very good progress with over 40,000 participants in our current studies across the world.”

Professor Young said collaborations on such a scale required a generosity of spirit and a willingness to share data and research.

“David is an exceptional collaborator and very well-known internationally because of that.”

Professor Mackey said both UWA and the Lions Eye Institute were fortunate to enjoy a partnership with such exceptional researchers.

“It was an incredibly productive three weeks where we managed to have one paper published on line, one paper accepted in Nature Genetics and another submitted as part of a major international consortium.”

Published in UWA News , 26 November 2012