Cousin et al. report an individualized antisense oligonucleotide for CHCHD10-related ALS. In one participant, six intrathecal doses were well tolerated, plasma neurofilament light decreased to the ref...

YouTube video by The Liquid Antiquarian

ALT: Amanda Donohoe: You Can Run, But You Can't Hide

The nucleolus is a master regulator of ribosome biogenesis and cellular homeostasis, as well as an increasingly key determinant of neuromuscular diseases. Across these conditions, diverse genetic and molecular lesions converge on alterations in nucleolar organization and function. These changes impact ribosomal RNA synthesis and reshape translational output, linking nuclear events to cytoplasmic protein homeostasis in disease-relevant contexts. In this review, we propose a comprehensive framework in which the nucleolus integrates RNA dysfunction, genome organization, and translational control across neuromuscular disorders. This perspective provides a conceptual basis for interpreting disease heterogeneity and highlights nucleolar pathways as potential, underexploited targets for therapeutic intervention.

The singer says children face a "postcode lottery", as testing for the disease is staggered.