NHS Scotland Rare Diseases study signs up first recruits

"I am pleased that the Scottish Government is supporting this initiative together with the Medical Research Council. The launch of this study is a significant milestone towards embedding use of this cutting-edge technology by NHS Scotland to benefit patients with rare genetic diseases."

Shona Robison, Cabinet Secretary for Health and Sport

2nd March 2017

A Reception at the Scottish Parliament, to mark Rare Disease Day 2017, has heard that people in Scotland with rare genetic diseases will benefit from a DNA study that seeks to improve their diagnoses and treatments. A total of 1,000 people will have their genome sequenced for the Scottish Genomes Partnership research. This is part of the 100,000 Genomes Project, a flagship project to advance clinical care through genome research. Participants will be identified by NHS Scotland Genetics Clinics and invited to take part in the research along with members of their close family.

Using advanced computing to link genetic data with patients’ health information, scientists hope to pinpoint differences in their DNA code that may be responsible for their condition. The SGP aims to offer more precise diagnoses for patients and explore how whole genome sequencing technology could be used in clinical practice to improve treatment and management of the diseases.

The project will take advantage of clinical and scientific expertise at the Universities of Aberdeen, Dundee, Edinburgh and Glasgow; cutting-edge whole genome sequencing technology at the Universities of Edinburgh and Glasgow; advanced computing facilities at the University of Edinburgh and analytical expertise at Genomics England.

More information about this study can be found here and in the Press release.

Jonathan Berg, SGP Clinical Lead, NHS Tayside, speaking at the event about advances in genomic medicine and research

Tim Aitman, SGP Principal Investigator, talking to Cabinet Secretary Shona Robison and Stuart Ralston

© 2020 Scottish Genomes Partnership

Scottish Genomes Partnership gratefully acknowledges the funding received from the Chief Scientist Office of the Scottish Government Health Directorates and the Medical Research Council Whole Genome Sequencing for Health and Wealth Initiative.