Genome project sheds light on rare diseases in Scotland

Detection and treatment of rare and severe inherited diseases in routine care can be improved by genome sequencing, according to a new study by CGEM researchers.

Until recently, standard genetic testing focused on a small number of genes, but with thousands more genes associated with disease, a new approach was needed.

The results of the project, known as the Scottish Genomes Partnership (SGP), will inform health policy and funding decisions, experts say.

Comparing genes

Whole-genome sequencing involves reading a person's entire gene sequence and identifying variants that deviate from the normal pattern.

Scientists compare these to genes known to cause disease and then examine the list of variants to determine which might be critical to a person's disease.

Rare diseases affect an estimated eight percent of the Scottish population, with about 80 percent of these diseases having a genetic cause.

There are more than 150,000 known genetic abnormalities that cause developmental and learning difficulties, as well as a range of diseases that have a long-term impact on health, but many people go undiagnosed.

Genome project sheds light on rare diseases in Scotland

Rare conditions

As part of the SGP, scientists at the University of Edinburgh sequenced 1,000 genomes of Scottish residents with rare conditions and their families for whom previous genetic tests had not revealed a genetic cause.

The data were sent for processing and storage as part of the 100,000 Genomes Project - an initiative by Genomics England to sequence and study the role of genes in health and disease.

Geneticists and physicians from NHS Scotland then interpreted the analysed data and provided useful results to participants. A genetic diagnosis has been found in 23 percent of participants to date.

The publication of the SGP results represents a landmark for application of genome technology to the healthcare of Scottish patients with rare genetic disorders. Continuously reducing costs of genome sequencing stands to increase future availability of genome-based testing for patients with rare diseases in Scotland.


The SGP involved the Universities of Aberdeen, Edinburgh, Glasgow, and Dundee, NHS Grampian, NHS Greater Glasgow and Clyde, NHS Lothian, NHS Tayside and Genomics England.

The findings have been published in the European Journal of Human Genetics and were funded by with funding from NHS Scotland, the Scottish Government and the Medical Research Council.

Related Links

Centre for Genomic & Experimental Medicine

Read the study in the European Journal of Human Genetics

The Scottish Genomes Partnership