Researchers reported a CRISPR/Cas9‑based strategy that precisely excises pathogenic GGC repeat expansions in NOTCH2NLC, a genetic cause of neuronal intranuclear inclusion disease (NIID). The work demonstrates targeted repeat removal as a therapeutic avenue for repeat‑expansion neurologic disorders and provides preclinical evidence for molecular correction of disease‑causing loci. The paper details design and validation of gRNAs and editing outcomes that reduce toxic repeat‑containing transcripts and nuclear inclusions in model systems. The approach moves beyond symptomatic treatments by addressing the underlying genetics of NIID and might be generalizable to other GGC/GAA repeat diseases with appropriate delivery technologies. Who’s involved: academic gene‑editing teams (study authors); results reported in a research publication. Translational steps include safe in vivo delivery, off‑target profiling, and regulatory paths for repeat‑targeting gene editors.
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