Rapid modeling of an ultra-rare epilepsy variant in wild-type mice by in utero prime editing.

ABSTRACT: Generating animal models for individual patients within clinically-useful timeframes holds great potential toward enabling personalized medicine approaches for genetic epilepsies. The ability to rapidly incorporate patient-specific genomic variants into model animals recapitulating elements of the patient's clinical manifestations would enable applications ranging from validation and characterization of pathogenic variants to personalized models for tailoring pharmacotherapy to individual patients. Here, we demonstrate generation of an animal model of an individual epilepsy patient with an ultra-rare variant of the NMDA receptor subunit GRIN2A, without the need for germline transmission and breeding. Using in utero prime editing in the brain of wild-type mice, our approach yielded high in

SUBMITTER: Robertson CD 

PROVIDER: S-EPMC10723435 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature