The Scottish Genomes Partnership

The genome is the complete set of genetic material in each of the cells of our body, inherited from our parents. Sometimes, changes (mutations) happen that cause disease. If someone has a disease, it’s now possible and affordable to read their genome to see if it might be caused by a mutation. If it has, scientists can use that information to understand the disease better, and perhaps one day treat or cure it. The UK's Department of Health (DH) set up its own company called Genomics England (GeL) to sequence the genomes of consenting families or individuals who suffer from rare genetic diseases and cancers. GeL has £100m from DH England to sequence 100,000 genomes. The MRC wants to work with the Devolved Governments of Northern Ireland, Scotland and Wales to help to develop in genome sequencing too, and to contribute to the 100,000 genomes project through GeL. We hope to help build a UK-wide partnership that can deliver better and faster results for patients.
This award is the MRC’s investment in the Scottish Genomes Partnership (SGP). It partners funding of £4,000,000 from the Scottish Government, and up to £3,500,000 from Scottish Enterprise. Together, funds will be used to (1) support SGP's sequencing of 1000 genomes of people with rare diseases (and often also their families) and (2) to address the challenge of how to provide researchers with appropriate access to, and use of, complex data stored across more than one secure site.

As part of a strategy to deliver genomic medicine in the NHS, Genomics England (GeL) was allocated £100m by DH England to sequence 100,000 genomes. The MRC wished to partner the Devolved Governments of Northern Ireland, Scotland and Wales to help to develop their capabilities and support their engagement with this initiative through GeL, to help to establish a UK-wide partnership that builds and brings together larger assets of genomic data from across the UK, with the capability to link together and enhance genomic, phenotypic and health record assets.

This award represents the MRC’s investment in the Scottish Genomes Partnership and complements partnership funding of £4,000,000 from the Scottish Government, and up to £3,500,000 from Scottish Enterprise, which will be awarded separately. Funds will be used to (1) support SGP's sequencing of genomes of individuals with rare diseases (1000 genomes, ca 330 trios) and (2) to support the development of federated analysis solutions for distributed genomic data, including through joint working with GeL.