Compositions and methods for enhancing functional expression of therapeutic genes in photoreceptors

Abstract

Disclosed herein are nucleic acid regulatory elements, expression cassettes, expression vectors, and methods for using the nucleic acid regulatory elements, expression cassettes, expression vectors for treating cone cell disorders.

Description

[0001] Cross References to Related Applications [0002] This application claims priority to US Provisional Patent Application Serial No. 62 / 594811 filed December 5, 2017, which is incorporated herein by reference in its entirety. Background technique [0003] Various clinical conditions characterized by significant visual loss (including blue cone monochromatism, Bornholm eye disease, X-linked cone dysfunction syndrome with myopia, and X-linked vision cone dystrophy) both involve mutations affecting the expression or function of L and M cone photopigment genes. Together, L and M cones make up about 94% of the cone photoreceptors in the human retina, and the severity of the resulting visual impairment depends on the particular underlying mutation and the relative numbers of L / M cones expressing the mutation. Despite wide variability in phenotype and disease progression associated with these mutations, individuals with severe visual impairment have no or few functional L or M...

AI Technical Summary

Problems solved by technology

Currently, there are no therapies for these conditions; however, results from adaptive optics imaging suggest that many of these conditions are associated with surviving but non-functional cones that may be adapted to implicate virus-mediated functions Sex Opsin Gene Transfer Therapy

However, there are currently no suitable constructs and methods for effective gene therapy of ocular disorders

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