Targeted Rod Photoreceptor Gene Expression System

A next-generation gene expression system enabling precise, CRISPR-Cas9-based editing of rod photoreceptor cells' genomes, offering a potential cure for retinal degenerative diseases.

The original patent, SYNP161, provided a promoter for gene expression in rod photoreceptor cells. However, its limitations in terms of specificity, efficiency, and flexibility hinder its potential for treating retinal degenerative diseases. The new inventive concept addresses these limitations by integrating CRISPR-Cas9 technology with a highly specific promoter, enabling precise genome editing in rod photoreceptors.

The system comprises a nucleic acid sequence of at least 150 base pairs having at least 99% identity to the sequence of SEQ ID NO:1, operatively linked to a gene encoding for a CRISPR-Cas9 complex. This allows for precise editing of rod photoreceptor cells' genomes. The system can be delivered using a self-replicating RNA-based vector capable of sustained expression of the CRISPR-Cas9 complex. The method of treating a retinal degenerative disease involves delivering the system to a patient's eye, where it specifically targets rod photoreceptors and edits the genome to correct a disease-causing mutation.

The new claims introduce the use of CRISPR-Cas9 technology, which is not present in the original patent. The inventive step lies in the combination of a highly specific promoter with CRISPR-Cas9, enabling precise genome editing in rod photoreceptors. This represents a significant departure from the original patent's approach, which relied solely on promoter-based gene expression.

Alternative embodiments could include using different CRISPR-Cas9 systems, such as CRISPR-Cpf1 or CRISPR-C2c1, or incorporating additional regulatory elements to further enhance specificity. Variations could also include using the system for gene expression profiling or for treating other diseases affecting rod photoreceptors.

The targeted rod photoreceptor gene expression system has the potential to revolutionize the treatment of retinal degenerative diseases, offering a potential cure for millions of people worldwide. The market for gene therapies is expected to grow significantly in the coming years, and this inventive concept is well-positioned to capture a substantial share of that market.