Genome sequencing cracks diagnoses for rare neurological diseases

Researchers using advanced DNA sequencing identified genetic causes in a significant portion of patients with ataxia and neuromuscular disorders—conditions that previously went undiagnosed. The findings could reshape clinical testing protocols and accelerate drug development for rare neurological diseases affecting hundreds of thousands globally.

Originaltitel: Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders