Nanopore sequencing of GBA in those with Parkinson’s disease


  • A nanopore sequencing approach of the gene for glucocerebrosidase (GBA) in those with or without Parkinson’s disease (PD) identified existing and novel potential pathogenic variants efficiently and accurately.

Why this matters

  • Bi-allelic GBA mutations result in Gaucher disease and heterozygous GBA mutations are common in those with PD and might be associated with a specific disease phenotype.

  • GBA sequence analysis can be challenging due to its size, presence of structural variants, and the presence of a nearby pseudogene; however, nanopore sequencing can provide accurate long-read sequencing to help identify clinically relevant variants.