Glaucoma and macular degeneration cause blindness in millions of people every year. Hundreds of genes have been implicated for increasing susceptibility to the diseases, and such genes are often starting points for therapies that prevent or reverse blindness. But it's not always clear where, when, and why these genes are expressed across the visual system.
In a culmination of more than a decade of research, Harvard scientists have completed a detailed analysis that could not only light the way to better, more targeted gene therapies for blindness, but also inspire a new appreciation for the vast complexity of human vision.
each cell type expresses. They detail their findings, which they call a cell atlas of the human eye, in the journal"Our atlas can be used to assess which cell types express any disease-associated gene, thereby suggesting ways to design effective therapeutic strategies," Sanes said. More than 10 years ago, Sanes and colleagues started using single-cell RNA sequencing to identify genes expressed across thousands of retinal cells at once. The then-new technology, alongside increasingly powerful bioinformatics, allowed them to catalog neural retina cells by their RNA transcripts, which are bits of unique information that become readable when DNA is being copied into RNA in each cell.
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