Discovery of molecular signatures of age-related macular degeneration will help with better diagnosis and treatment of this progressive eye disease. Thanks to the discovery of new genetic signatures of age-related macular degeneration, better diagnosis and treatment of the incurable eye disease i
“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.
The scientists 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.
“Ultimately, we are interested in matching the genetic profile of a patient to the best drug for that patient. We need to test how they work in cells relevant to the disease,” says co-lead of the study Professor Alice Pébay, from the University of Melbourne. In another recent study, the researchers uncovered genetic signatures of glaucoma – a degenerative eye disease causing blindness – using stem cell models of the retina and optic nerve.
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