CRISPR AND AAV STRATEGIES FOR THERAPY OF X-LINKED JUVENILE RETINOSCHISIS Russian patent published in 2025 - IPC C12N15/11 A61K48/00 A61P27/02 

FIELD: biotechnology.

SUBSTANCE: invention relates to the field of biotechnology, namely to a composition comprising a nucleic acid construct containing a coding sequence for a retinoschisin protein or a functional fragment thereof for integration into a target genomic locus, where the coding sequence contains human exons 2–6 or degenerate versions thereof, and a nuclease agent containing a Cas protein or a nucleic acid encoding a Cas protein and a guide RNA or DNA encoding a guide RNA. Also disclosed is a combination for use in expression of retinoschisin in a retinal cell, where the combination contains a nucleic acid construct containing a coding sequence for a retinoschisin protein or a functional fragment thereof for integration into a target genomic locus, where the coding sequence contains human exons 2–6 or degenerate versions thereof, and a nuclease agent containing a Cas protein or a nucleic acid encoding a Cas protein and a guide RNA or DNA encoding a guide RNA.

EFFECT: invention is effective for therapy of x-linked juvenile retinoschisis.

76 cl, 10 dwg, 5 tbl, 4 ex