In vivo prime editing rescues alternating hemiplegia of childhood in mice
The Ladders to Cures Accelerator (L2C) at the Broad Institute congratulates Alex Sousa, Markus Terrey, Holt Sakai, David Liu, Cat Lutz and many other talented scientists, who received one of the first L2C accelerator grants to develop prime and base editing strategies that could efficiently correct prevalent ATP1A3 pathogenic variants with minimal off-target editing.
This ground breaking research demonstrates a proof-of-concept precision gene editing therapy for alternating hemiplegia of childhood (AHC), a rare neurodevelopmental disorder typically caused by mutations in the gene ATP1A3.
This project demonstrates the power of patient-driven leadership, and we congratulate RARE Hope, Nina Frost, and Simon Frost and many others in the patient community for their leadership.
Published in Cell, the team demonstrated that AAV9-delivered prime editing restores the Atp1a3 sequence and ATPase function in mice with a strong rescue of behavioral phenotypes and extended lifespan.
L2C celebrates all of the scientists and patient advocates involved with developing prime editing strategies as a nodal technology with the potential to efficiently correct a devastating neurological disorder.