Overview

• The University of Aberdeen study confirms Northern Scotland's Huntington’s disease prevalence at 14.5 per 100,000 people, more than five times the global average of 2.71 per 100,000.
• For the first time in 35 years, researchers used NHS family tree records to identify over 160 untested adults carrying the Huntington’s gene in the region.
• The findings reveal that each diagnosed patient has, on average, 2.2 relatives who likely carry the gene, underscoring a broader familial impact.
• The study highlights significant underestimations in a 2022 Scottish Government report, which failed to account for the untested at-risk population.
• Healthcare experts and advocates are calling for urgent expansion of specialist services, genetic counseling, and drug discovery efforts to address the growing burden.