Targeted Gene Expression and Editing in Rod Photoreceptors

A next-generation system for precise gene expression and editing in rod photoreceptors, enabling targeted treatment of retinal diseases.

The original patent, SYNP161, provides a promoter for gene expression in rod photoreceptor cells. However, it has limitations in terms of precision and efficacy. The new inventive concept addresses these limitations by integrating CRISPR-Cas9 technology with the SYNP161 promoter, enabling precise editing of the rod photoreceptor genome and targeted treatment of retinal diseases.

The new inventive concept comprises a nucleic acid sequence of at least 150 base pairs having at least 99% identity to the sequence of SEQ ID NO:1, operably linked to a gene encoding for a CRISPR-Cas9 system. This system enables precise editing of the rod photoreceptor genome, allowing for targeted treatment of retinal diseases. The system can be delivered to the patient's eye using a gene therapy vector, which may include a regulatory element for dynamic control of gene expression in response to environmental stimuli. The efficacy of the treatment can be monitored in real-time using a device for in vivo monitoring of gene expression in rod photoreceptors. Furthermore, machine learning algorithms can be used to predict the optimal nucleic acid sequence for a patient's specific retinal disease, enabling personalized gene therapy.

The new inventive concept is novel and non-obvious over the original patent, as it integrates CRISPR-Cas9 technology with the SYNP161 promoter, enabling precise editing of the rod photoreceptor genome. The use of machine learning algorithms to predict the optimal nucleic acid sequence for personalized gene therapy is also a new and innovative aspect of the concept.

Alternative embodiments of the inventive concept may include the use of different gene editing technologies, such as base editing or prime editing, or the integration of additional components, such as sensors or actuators, to enhance the system's functionality. Variations of the concept may also include the use of different delivery methods, such as viral vectors or nanoparticles, or the targeting of different cell types or tissues.

The new inventive concept has significant commercial potential in the treatment of retinal diseases, such as retinitis pigmentosa and age-related macular degeneration. The market for gene therapies is rapidly growing, and the ability to provide targeted and personalized treatment options is expected to drive further growth and adoption.