Overview

• A groundbreaking study finds Huntington’s disease prevalence in Northern Scotland at 14.5–15 per 100,000 people, far exceeding the global average of 2.71 per 100,000.
• Researchers used NHS family tree clinical records for the first time in 35 years to identify over 160 adults carrying the gene who have not undergone testing.
• The findings challenge a 2022 Scottish Government report, which significantly underestimated the disease’s regional impact by excluding untested at-risk individuals.
• Local genetic factors, including a higher frequency of genetic code repeats, may contribute to the elevated incidence in Northern Scotland.
• Experts are calling for immediate investment in specialist services, genetic counseling, and drug discovery to address the region’s substantial healthcare needs.