Genome editing for dominant IRDs

Inherited retinal diseases (IRDs) are a large group of clinically and genetically heterogeneous disorders, the most common cause of severe vision loss, ultimately leading to blindness, affecting approximately 1 in 3000 people worldwide. IRDs may be restricted to the retina (such as retinitis pigmentosa, cone-rod dystrophy, Usher syndrome, and Bardet-Bidel syndrome) or the macular (e.g., Stargardt disease, Best disease, and Sorsby fundus dystrophy). The majority of IRDs may be inherited as autosomal dominant, autosomal recessive, and X-linked traits.

Although numerous attempts to cure IRDs has been made in the past two decades, such as gene augment therapy for treating autosomal recessive IRDs, currently there are no effective treatments available for IRDs, especially the autosomal dominant IRDs, in which the dominant mutations need to be inactivated or ablated. Toward this goal, we are developing a therapeutic approach by utilizing the most commonly used CRISPR/Cas9-mediated genome editing system to specifically disrupt the mutant alleles associated with autosomal dominant IRDs, therefore to prevent the retinal degenerations to improve IRDs patients’ life quality.