Seongjin Seo

Tripartite AAV Systems for EYS Retinal Gene Therapy

This paper develops a tripartite AAV system to deliver the large EYS gene using recombination, showing successful in vitro and in vivo expression of full-length EYS protein.

Delivering large genes using adeno-associated virus and the CRE-lox DNA recombination system

This paper describes a method to deliver large genes using AAV vectors and the CRE-lox system, enabling efficient reconstitution of therapeutic genes beyond AAV packaging limits.

Knockout of Bbs10 results in lack of cone electrical function and progressive retinal degeneration of rods and cones

This study develops a BBS10 knockout mouse model to investigate retinal degeneration, finding progressive loss of cone function and thinning of the outer nuclear layer.

Differential requirement of NPHP1 for compartmentalized protein localization during photoreceptor outer segment development and maintenance

This study shows NPHP1 is needed to keep inner segment proteins in place during photoreceptor development but not after outer segments mature.

Limited time window for retinal gene therapy in a preclinical model of ciliopathy

This study shows that retinal gene therapy in a ciliopathy mouse model is most effective when administered early, with efficacy decreasing as treatment is delayed.