The Scottish Genomes Partnership (SGP) is using whole genome sequencing, health information and data analysis to try to understand what causes rare genetic conditions. More than 1600 samples have been provided and analysed for SGP by Edinburgh Genomics.
Studies currently underway are investigating the genetic causes of eye malformation, microcephaly, extreme short stature, disorders of sexual development and motor neurone disease.
Working with the NHS, SGP recruited 1,000 participants (individuals diagnosed with rare conditions and their close family members) from across Scotland for the Genomics England 100,000 Genomes Project.
Recruitment to the study is complete, with genome data already produced for almost 500 people. By the end of May 2018, 326 people who attend clinical services in Glasgow had consented into the study.
The first clinical results are eagerly anticipated in Scotland. It is hoped that these studies will pave the way for more diagnoses and better lives for patients with rare genetic conditions.
Visit the SGP Website for more info.