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"... Current treatments can only slow the loss of vision, but this understanding is the first step towards drugs that target individual cell types ...
Instead, to create samples for the study, researchers took skin biopsies from participants with and without glaucoma. The skin cells were reprogrammed to revert to stem cells, and then guided into becoming retinal cells.
With 110 successfully converted samples, researchers sequenced more than 200,000 individual cells to generate ‘molecular signatures’. Comparing signatures with and without glaucoma revealed key genetic components that control how the disease attacks the retina. ..."
From the abstract:
"To assess the transcriptomic profile of disease-specific cell populations, fibroblasts from patients with primary open-angle glaucoma (POAG) were reprogrammed into induced pluripotent stem cells (iPSCs) before being differentiated into retinal organoids and compared with those from healthy individuals. We performed single-cell RNA sequencing of a total of 247,520 cells and identified cluster-specific molecular signatures. Comparing the gene expression profile between cases and controls, we identified novel genetic associations for this blinding disease. Expression quantitative trait mapping identified a total of 4,443 significant loci across all cell types, 312 of which are specific to the retinal ganglion cell subpopulations, which ultimately degenerate in POAG. Transcriptome-wide association analysis identified genes at loci previously associated with POAG, and analysis, conditional on disease status, implicated 97 statistically significant retinal ganglion cell-specific expression quantitative trait loci. This work highlights the power of large-scale iPSC studies to uncover context-specific profiles for a genetically complex disease."
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