Approximately 2.2 billion people worldwide suffer from vision impairment, with Age-related Macular Degeneration (AMD) – caused by the death of photoreceptors cells primarily in the macular region of the retina – being the leading cause of blindness among elderly individuals. Genome-wide association studies (GWAS) have exposed the involvement of numerous common genetic variants in AMD.
However, efforts to understand the underlying mechanisms of these variants have been thwarted by the lack of a suitable disease model that accurately mimics the right disease context.
Organoids, the self-organizing three-dimensional cellular models derived from stem cells, have opened the possibility of replicating the human eye to closely examine and study vision loss. Now, these models are being paired with the latest CRISPR technologies to introduce precise genetic edits and examine the role of individual variants on the mechanisms of retinal neurodegeneration.