Completed Genetics & Molecular Biology Public Health & Healthcare

The Scottish Genomes Partnership

Funder MRC (part of UKRI)
Recipient organisation University of Edinburgh
Funding £2.0M
Period Feb 2016 — Feb 2020

In plain English

AI plain-English summary

The Scottish Genomes Partnership will sequence the complete DNA of 1,000 people with rare diseases, along with their family members, to find the genetic mutations causing their illnesses. This matters because rare genetic diseases affect millions of people across the UK, but most remain undiagnosed at the molecular level. Without knowing the exact mutation, doctors cannot offer targeted treatments, predict disease progression, or counsel families about recurrence risks. The project plugs into Genomics England’s larger 100,000 Genomes Project, which has already sequenced thousands of genomes in England. Scotland has been largely absent from that effort. This partnership brings Scottish patients and data into the national programme, ensuring they benefit from the same diagnostic and research opportunities. If successful, the project will deliver genetic diagnoses for hundreds of families who currently have none. It will also solve a technical problem: how to let researchers securely access and analyse genomic data stored across multiple hospital and university sites, without compromising patient privacy. That infrastructure could later support other health data projects in Scotland. The immediate impact is diagnostic—giving patients and clinicians a clear answer—but the long-term value lies in building a national resource for understanding rare diseases and developing therapies.

View original technical description
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.

View the original record at the funder ↗

Researchers

Timothy Aitman (Principal Investigator)

Related Research

Grants with similar aims, by meaning.

The Wales Genomic Medicine Centre
The Northern Ireland Genomic Medicine Centre
Establishment of an MRC Sequencing Hub at the GenePool, the Scottish next-generation genomics facility
Scottish Genomes Partnership Agreement
UK Infrastructure for Large-scale Clinical Genomics Research

Original classification

Intramural

Plain English summaries and category classifications on this site are generated by AI and may not perfectly reflect the original research.