Overview

• A University of Aberdeen study confirms northern Scotland has one of the highest rates of Huntington’s disease globally, at 14.5 per 100,000 people, far exceeding the global average of 2.71 per 100,000.
• Researchers identified over 160 adults in the region who carry the Huntington’s gene but remain untested, with the actual figure likely higher due to undiagnosed cases.
• The study utilized NHS family tree clinical records to provide a more accurate count of at-risk individuals, improving on previous estimates that relied on statistical modeling.
• Each diagnosed individual is estimated to have at least 2.2 relatives who are gene carriers, highlighting a significant at-risk population requiring future treatment and care.
• Health experts and advocates are urging immediate investment in specialized Huntington’s disease services, citing the study as evidence for critical healthcare planning and drug development.