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Investing in cutting edge medical research

Published: 1 Mar 2016 10:00
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Research

Scottish Genomes Partnership backed by £6 million.

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.

"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."

Professor Anna Dominiczak, Vice-Principal and Head of the University of Glasgow's College of Medical, Veterinary and Life Sciences said:

"We are very pleased and proud to be a partner in the Scottish Genomes Partnership, and welcome this further investment into the future of precision medicine in Scotland.

"The SGP will play a significant role within the recently-established Scottish Ecosystem for Precision Medicine, which will co-ordinate clinical, laboratory and informatics resources and opportunities across Scotland.

"Through collaborations like the SGP, and a partnership with Precision Medicine Catapult to lead the National Centre of Excellence, Scotland will be at the forefront of developing cutting-edge precision medicine technologies, with the aim to deliver the right drug for the right patient at the right time.

"We're extremely proud to playing a leading role in the SGP, and the wider Scottish Precision Medicine Ecosystem."

Dr Nathan Richardson, Head of Molecular and Cellular Medicine at the Medical Research Council said:

"We are extremely pleased to be jointly investing with the Scottish Government to help support their ambitions in genomic medicine. This is part of a broader MRC ambition to enhance investment in genome research across the UK and complement our major investment in Genomics England Ltd.

"Recent technological advances in genome sequencing alongside developments in assimilating and interrogating vast and complex data sets offers exciting opportunities to better understand disease and improve precision healthcare. It is quite apt that this announcement comes on Rare Disease Day as this new funding embodies our continuing commitment to investigate the root cause human diseases and improve human health."

Alastair Kent, Chair of Rare Disease UK and Director of Genetic Alliance UK said:

"Patients will be delighted by the announcement of this substantial investment by the Scottish Government in the development of the Scottish Genomes Partnership. We have seen significant benefits for English patients arising from the 100,000 Genomes programme and the opportunity for Scottish families to join in this exciting road to diagnosis will bring huge benefits for patients with rare diseases."

Professor Zosia Miedzybrodzka, Professor of Medical Genetics University of Aberdeen and NHS Grampian, Chair of Scottish Clinical Genetics Forum said:

"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."

Chief Scientist at Genomics England, Professor Mark Caulfield said:

"I am delighted that Scotland is joining the 100,000 Genomes Project. This will bring new diagnoses for patients with rare disease and extends the benefits further across the UK."

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."

Notes to editors

The Scottish Genomes Partnership was founded following a £15m investment by the Universities of Edinburgh and Glasgow in January 2015. This initial funding enabled the Universities to partner with Illumina for the purchase of state-of-the-art equipment for sequencing human genomes. The equipment enables researchers and clinicians in Scotland to study the genomes of both healthy and sick people on a large scale and faster than before.

SGP will start March 1 2016 and is aiming to enrol the first patients from NHS Scotland during summer 2016.

Genomics England is a company owned by the Department of Health and was set up to deliver the 100,000 Genomes Project. This flagship project will sequence 100,000 whole genomes from NHS patients and their families.

Genomics England has four main aims:

• to bring benefit to patients

• to create an ethical and transparent programme based on consent

• to enable new scientific discovery and medical insights

• to kickstart the development of a UK genomics industry

The project is focusing on patients with rare diseases, and their families, as well as patients with common cancers. For more information visit www.genomicsengland.co.uk.

This investment in SGP by the Scottish Government follows on from £4 million investment that was announced by the First Minister for the Scottish Precision Medicine Ecosystem which will be linking with SGP: http://news.scotland.gov.uk/News/Investing-in-the-healthcare-of-the-future-2255.aspx, and £3.5 million funds for industry-led projects in Genomic Medicine contributed by Scottish Enterprise: http://www.scottish-enterprise.com/knowledge-hub/articles/insight/genomic-medicine-industrial-catalyst-funding-call

Rare Disease Day Parliamentary Reception – 1 March 2016

Rare Disease UK (RDUK) is the national alliance for people with rare diseases and all that support them. This year will mark its 7th annual Rare Disease Day reception, taking place at the Scottish Parliament. Minister for Sport, Health Improvement and Mental Health, Mr Hepburn, will be highlighting progress that has been made towards implementing Scotland's Rare Disease Implementation Plan 'It's Not Rare to Have a Rare Disease'.