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NHS Scotland rare diseases study signs up first recruits

People in Scotland with rare genetic diseases will benefit from a DNA study that seeks to improve their diagnoses and treatments: March 2017

Scottish Genomes Partnerships

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, including researchers from CGEM and MRC HGU, 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. 

This project will take advantage of 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.

Professor Tim Aitman, Co-Chair of the Scottish Genomes Partnership and Director of the University of Edinburgh’s Centre for Genomic and Experimental Medicine, within the Institute of Genetics and Molecular Medicine said:

Genomics has come a very long way since the publication of the first human genome in 2001. This collaboration enables the investment made by the Universities of Edinburgh and Glasgow in the latest genome sequencing technology to make a direct and immediate impact on the healthcare of patients in Scotland. We look forward to working on this ground-breaking project with our partners in NHS Scotland and Genomics England.

Professor Zosia Miedzybrodzka, Professor of Medical Genetics at the University of Aberdeen and NHS Grampian, and Chief Investigator of the study said:

The clinicians and scientists delivering NHS Scotland Genetics Services are delighted that patients in Scotland with undiagnosed genetic conditions will have this opportunity to benefit from finding out the cause of their health problem.

Related links

Professor Tim Aitman

Scottish Genomes Partnership

100,000 Genomes Project

The Implementation Plan for Rare Diseases in Scotland “It’s Not Rare to Have a Rare Disease