Enhanced Rod Photoreceptor-Specific Gene Expression System

An improved system for targeted gene expression in rod photoreceptors, featuring a novel combination of nucleic acid sequences and gene editing tools to enhance efficiency and specificity.

The original patent disclosed a promoter sequence for gene expression in rod photoreceptors, but it had limitations in terms of efficiency and specificity. The new inventive concept addresses these limitations by introducing a system that combines the promoter sequence with gene editing tools, such as CRISPR-Cas9 or TALEN, to enhance targeted gene expression.

The new system comprises an isolated nucleic acid molecule with a nucleic acid sequence of at least 150 base pairs and having at least 95% identity to the sequence of SEQ ID NO:1, which is specifically expressed in rod photoreceptors. The system further includes a nucleic acid sequence encoding for a gene, and optionally, a gene editing tool. The gene editing tool can be CRISPR-Cas9 or TALEN, which enables precise editing of the target gene. The system can be delivered using a combination of viral and non-viral vectors to enhance delivery efficiency. The method of using this system involves administering the expression cassette to a subject, where it is specifically expressed in rod photoreceptors and treats rod photoreceptor-related disorders.

The new claims introduce the combination of the promoter sequence with gene editing tools, which is not obvious from the original patent. This combination provides a significant improvement in targeted gene expression, making it a novel and non-obvious invention.

Alternative embodiments of the inventive concept could include using different gene editing tools, such as zinc finger nucleases or homology-directed repair, or using different vector systems, such as lipofection or electroporation. Variations could also include using the system for gene therapy or gene editing in other cell types.

The enhanced rod photoreceptor-specific gene expression system has significant commercial potential in the gene therapy and gene editing markets, particularly for treating rod photoreceptor-related disorders, such as retinitis pigmentosa or age-related macular degeneration. The market for gene therapy and gene editing is rapidly growing, and this inventive concept could provide a competitive advantage in this space.