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Light-sensing cells in the retina have a narrow neck through which everything they need must pass, and CEP290 keeps that neck working. One particular fault sits deep inside the gene in a region that is normally discarded, and it inserts a spurious instruction that ruins the protein. Cutting that piece out was the target of the first CRISPR treatment injected directly into a human organ.
CEP290, at 12q21.32, encodes a centrosomal protein required for the photoreceptor connecting cilium. The intronic c.2991+1655A>G variant creates a cryptic splice site inserting a pseudo-exon with a premature stop codon. The gene is too large for AAV delivery of a replacement copy, which made excision of the offending intronic segment the rational approach and the basis for EDIT-101.
Sources
- New England Journal of Medicine (Pierce et al.) · 2024
Gene editing for CEP290-associated retinal degeneration ↗