‘Prime Editing’ Corrects Genetic Mutations Causing Rare Childhood Brain Disease

The Research HHMI Investigator David R. Liu and researchers at the Broad Institute and Jackson Laboratory developed prime editing treatments to directly repair five different genetic mutations that cause alternating hemiplegia of childhood or AHC — a rare genetic disease that causes paralysis and seizures in infants and leads to developmental delays and intellectual disability. Mice that received the treatment had far fewer and less severe symptomsexternal link, opens in a new tab of AHC and survived more than twice as long as untreated mice. The Background Prime editing, which can make insertions, deletions, and substitutions up to hundreds of base pairs long in the genome, was developed in 2019 by Liu’s team and has already been successfully tested in a clinical trial for another rare genetic disease. The Impact This marks the first time that prime editing has been used to address a neurological disease in animals, offering hope for treating people with AHC and other genetic brain disorders. Liu, a professor at the Broad Institute and Harvard University, was awarded the 2025 Breakthrough Prize in Life Sciences for developing prime editing and base editing, which together enable the correction or replacement of virtually any genetic mutation, including those that cause countless human genetic diseases.