RPGRIP1 disease retinal organoid treated with AAV-RPGRIP1 (IMAGE)
Caption
The research team of Robyn Jamieson from Children’s Medical Research Institute, University of Sydney, Australia have now set up a lab-based testing platform to classify variants of uncertain significance (VUS) in retinal organoids, which are small 3D structures of retinal cells resembling the human retina. The new platform can be used to classify new VUS in RPGRIP1 and other Leber Congenital Amaurosis (LCA) genes, enabling clinical genetic diagnosis. Ultimately, the gained knowledge may help to develop targeted therapies for LCA patients and will inform decision-making and genetic counselling for at-risk populations.
Credit
Dr. To Ha Loi
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License
CC BY-SA