Rare Diseases

The Scottish Genomes Partnership is now recruiting patients with rare genetic diseases.

The Scottish Genomes Partnership (SGP) is recruiting 1,000 participants (affected individuals and close family members) for the rare diseases arm of the Genomics England 100,000 Genomes Project.

SGP is a flagship, Scotland-wide genomic research programme between the Universities of Edinburgh, Glasgow, Dundee and Aberdeen; NHS Scotland; and the 4 Regional Genetics Services in NHS Grampian, NHS Greater Glasgow & Clyde, NHS Lothian and NHS Tayside. Through joint working across Scotland, the SGP brings together clinical expertise, academic research and NHS laboratories to discover more about the underlying biology of cancer, rare genetic diseases and the effects of new rare genetic variants within healthy populations.

The SGP is collaborating with the 100,000 Genomes Project to investigate the extent to which whole genome sequencing with collaborative analysis could improve genetic diagnosis and clinical follow-up for rare disease patients in Scotland.

Recruitment covers all of Scotland and is taking place via the specialist NHS Scotland regional genetics services based in Aberdeen, Dundee, Edinburgh and Glasgow. In order to be eligible, potential participants must have been diagnosed with one of around 200 eligible rare genetic disorders and have tested negative for the standard genetic tests for this disorder. Meeting these criteria doesn’t guarantee entry into the study as there are a limited number of places. But if you think you might be eligible then please contact your consultant clinical geneticist or other hospital consultant to discuss this further.

More information about the study is available on the  Scottish Genomes Partnership website.