Minister for Sport, Health Improvement and Mental Health, Jamie Hepburn has announced a £6 million investment in the Scottish Genomes Partnership (SGP), ahead of a parliamentary reception to mark Rare Disease Day.

The SGP is a collaboration of Scottish Universities and the NHS capitalising on £15 million investment in whole genome sequencing technology by the Universities of Edinburgh and Glasgow. The Scottish Government is contributing £4 million and the Medical Research Council, £2 million. 

By combining knowledge of the whole genome sequence – or the entire genetic code – of patients and information from their health records, genetic diseases can be understood better and new ways to test, manage and treat these diseases devised.

SGP will be using this technology for genomic research on rare diseases, cancers and Scottish populations, and to work with Genomics England on the diagnosis of patients in Scotland with rare genetic diseases.

Mr Hepburn said:

“This is a really exciting announcement. Through our investment in the Scottish Genomes Partnership and the collaboration with the Medical Research Council and Genomics England, NHS Scotland may be able to offer more rapid diagnosis to rare disease patients or a diagnosis where one hasn’t been possible before, improving the lives of patients with these conditions.”