Study Reveals Genetic Isolation Increases Rare Disease Risk in UK Regions

Research highlights genetic distinctiveness in Shetland, Orkney, and parts of Wales and England, prompting calls for targeted screening.

The University of Edinburgh study found that certain UK regions have genetic variants that greatly increase the risk of rare diseases.
Shetland and Orkney populations are the most genetically distinct, with some disease-causing variants over 100 times more common than elsewhere.
Lancashire residents are 73 times more likely to carry a variant linked to Zellweger syndrome, affecting brain, liver, and kidneys.
Nine high-frequency disease-causing variants were identified in Wales, including one causing a kidney stones disorder 44 times more common in the south.
Researchers suggest implementing tailored genetic screening programs in affected regions to identify and manage these genetic risks.