Geneticclues to age-related maculardegeneration revealed NatureComms
Fluorescent imaging of retinal pigment epithelium. Credit: Dr Grace Lidgerwood
Analysis of 127,600 cells revealed 439 molecular signatures associated with AMD, with 43 of those being potential new gene variants. Key pathways that were identified were subsequently tested within the cells and revealed differences in the energy-making mitochondria between healthy and AMD cells, rendering mitochondrial proteins as potential targets to prevent or alter the course of 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. "We have been building a program of research where we're interested in stem cell studies to model disease at very large scale to do screening for future clinical trials," says Professor Hewitt.
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