The University of Aberdeen is to benefit from a share of a multi-million pound grant awarded to help fund research into genetic diseases.
As a member of the Scottish Genomes Partnership (SGP), the University will share the £6 million investment in whole genome sequencing technology.
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.
Professor Zofia Miedzybrodzka, Professor of Medical Genetics at the University of Aberdeen and NHS Grampian and Chair of Scottish Clinical Genetics Forum will lead the £2 million rare disease element of the project from the University of Aberdeen.
Patients from across Scotland, including Grampian, the Highlands and the Western isles will have the opportunity to be have their genome sequenced to see if the cause of their condition can be identified, for their benefit and that of their families.
Professor Miedzybrodzka, said: “Both University of Aberdeen and NHS Scotland genetics professionals are delighted that Scottish patients with rare diseases will have the opportunity to benefit from state of the art technology to help to determine the underlying genetic cause of their condition. This will directly help their medical care and that of their families, and will build a knowledge base that will benefit us all.”
Rebecca McEleney from Moray whose six-year-old son Corey has severe autism, seizures and developmental delay said: "I have fought for years to understand Corey's disabilities. This project gives us as a family the opportunity to find out the cause of his needs to aid him and future generations."
Mr Jamie Hepburn, Minister for Sport, Health Improvement and Mental Health, who made the announcement 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.
“Allied to our investment in SGP’s genomic research programmes, the new knowledge gained can improve our understanding and help the development of new tests, drugs and treatment strategies for rare diseases and cancers to benefit patients. This investment in cutting edge science can also create new opportunities for research and the life sciences sector, and enhance Scotland’s reputation for clinical research and innovation.”
Professor Tim Aitman, Co-Chair of the Scottish Genome Partnership and Director of the University of Edinburgh’s Centre for Genomic and Experimental Medicine said: “This funding creates a unique opportunity to translate the investment of Scottish Universities into immediate healthcare benefits for Scottish patients. The remarkable advances in genome technology over the past five years will now be available to patients in the Scottish NHS, bringing a new dimension of healthcare to Scottish patients with cancer and inherited diseases. We look forward to working with our partners in the Scottish NHS, the Scottish Universities and Genomics England on this landmark project.”