Better diagnosis and treatment of the incurable eye disease age-related macular degeneration is a step closer, thanks to the discovery of new genetic signatures of the disease.

Scientists from the Garvan Institute of Medical Research, the University of Melbourne, the Menzies Institute for Medical Research at the University of Tasmania and the Centre for Eye Research Australia, reprogrammed stem cells to create models of diseased eye cells, and then analysed DNA, RNA and proteins to pinpoint the genetic clues.

“We’ve tested the way that differences in people’s genes impact the cells involved in age-related macular degeneration. At the smallest scale we’ve narrowed down specific types of cells to pinpoint the genetic markers of this disease,” says joint lead author Professor Joseph Powell, Pillar Director of Cellular Science at Garvan. “This is the basis of precision medicine, where we can then look at what therapeutics might be most effective for a person’s genetic profile of disease.”

Age-related macular degeneration, or AMD is the progressive deterioration of the macular — a region in the centre of the retina and towards the back of the eye — leading to possible impairment or loss of central vision. Around one in seven Australians over the age of 50 is affected, and about 15 per cent of those aged over 80 have vision loss or blindness.

The underlying causes of the deterioration remain elusive, but genetic and environmental factors contribute. Risk factors include age, family history and smoking.

The research is published today in the journal Nature Communications.

The researchers took skin samples from 79 participants with and without the late stage of AMD, called geographic atrophy. Their skin cells were reprogrammed to revert to stem cells called induced pluripotent stem cells, and then guided with molecular signals to become retinal pigment epithelium cells, which are the cells affected in AMD.

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