Centre for Genomic & Experimental Medicine
Centre for Genomic & Experimental Medicine

Rare Disease Day at Scottish Parliament

March 2017: Professor Tim Aitman and colleagues from the Scottish Genomes Partnership attend the Disease Day Reception at the Scottish Parliament.

Rare Disease - Parliament March 2017
Professor Tim Aitman, Principal Investigator of the Scottish Genomes Partnership, with Cabinet Secretary Shona Robison and Professor Stuart Ralston, CGEM, who spoke about the TOPAZ Trial for patients with Osteogenesis imperfecta at the Rare Diseases Day Reception at the Scottish Parliament

Professor Tim Aitman, Director of the Centre for Genomic and Experimental Medicine (CGEM) and other colleagues from across the IGMM attended the Rare Disease Day Reception at the Scottish Parliament on 1 March 2017. Rare Disease Day is an annual international event to raise awareness about rare diseases and their impact on patients' lives.

The Scottish Genome Partnership (SGP) is a collaborative venture established by the Universities of Edinburgh and Glasgow in January 2015, between Edinburgh Genomics and Glasgow’s Wolfson Wohl Cancer Centre. A £15 million initial investment enabled these Universities to partner with Illumina to purchase state-of-the-art equipment for sequencing human genomes – the array of super-powered sequencing machines that first broke the fabled ‘$1000 genome’ price tag (around £700-£800). The equipment enables researchers and clinicians in Scotland to study the genomes of both healthy and sick people on a larger scale and much faster than before.

At the Rare Disease Day Reception, Shona Robison, Cabinet Secretary for Health and Sport highlighted the progress that has been made towards implementing Scotland’s Rare Disease Implementation Plan ‘It’s Not Rare to Have a Rare Disease’, having previously announced a £6 million investment in the Scottish Genomes Partnership (SGP) - £4 million from Scotland’s Chief Scientist Office and £2 million from the UK Medical Research Council.

The Scottish Genomes Partnership has prioritised patients with rare diseases and cancer, working alongside the Scottish NHS and the partner project at Genomics England. These patients will have their whole genome (their entire genetic make-up) mapped, leading to precise diagnoses of the causes of their disease, often in patients whose diagnoses have eluded medical investigation by other means for many years.

Related links:


Scottish Genomes Partnership

Professor Tim Aitman