**Scots islanders at Higher Risk of Rare Diseases**
Health risks discovered among Islanders on remote Scottish islands
Recent research has uncovered that individuals living in isolated regions like Orkney and Shetland have a significantly higher risk of developing certain rare diseases compared to the rest of the UK population. Scientists from the University of Edinburgh have revealed that these remote populations, especially in Shetland and Orkney, have genetic variations that make them more than 100 times likely to be affected by certain diseases compared to the general population across the UK.
The study also identified distinct genetic variations in populations from south-east Scotland, north and south Wales, Ireland, and parts of England, where specific disease-causing gene variants were found to be up to 73 times more prevalent than in the general UK population. This research underscores the crucial connection between ancestry and health, particularly within isolated communities.
The limited genetic diversity within populations in remote locations, attributed to fewer migrations in and out of the area, can lead to the proliferation of rare genetic variants that persist through generations. The study, which analysed genetic data from over 44,000 individuals across 20 regions in the UK, highlighted the presence of six disease-causing variants among individuals from Shetland, including one associated with Batten disease, a severe neurodegenerative disorder in children.
The research further discovered several genetic variations with significantly higher frequencies in Wales, including a gene variant linked to an inherited form of kidney stones disorder which is 44 times more prevalent in south Wales compared to the general population. In Lancashire, individuals were found to be 73 times more likely than the general UK population to carry a gene variant associated with Zellweger syndrome, a fatal disease affecting the brain, liver, and kidney.
The findings emphasise the necessity for continued research into rare genetic variants present in various regions across the UK. The study was financed by the Medical Research Council Human Genetics Unit. Professor Jim Flett Wilson, the lead researcher from the university’s Usher Institute, suggested that targeted genetic screening for disorders should be considered in other UK communities, particularly in places like Shetland where the prevalence of disease-causing genetic variants is significantly higher.
This study sheds light on the importance of understanding genetic diversity and its impact on health outcomes, especially in remote and isolated communities like Shetland and Orkney. Further research and genetic screening measures could play a vital role in identifying and managing rare genetic diseases in these populations.