Researchers in Denmark have developed a method for multiparametric and accurate functional analysis of genetic sequence variants using CRISPR-Select. It is a set of flexible knock-in assays that introduce a genetic variant in a cell population and track its absolute frequencies relative to an internal, neutral control mutation as a function of time, space or a cell state measurable by flow cytometry.
American researchers have explored the feasibility of adenine base editing (ABE)-mediated exon skipping as a therapeutic strategy for Duchenne muscular dystrophy (DMD). In a DMD hiPSC cell model, they demonstrated that transfection of an ABE and a gRNA targeting the splice acceptor led to efficient conversion of AG to GG (35.9 ± 5.7%) and enabled exon 55 skipping. Furthermore, complete AG to GG conversion in a single clone restored dystrophin expression (42.5 ± 11.0% of WT).