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Briggs Commends Genome Research in Rare Scottish Diseases

The Scottish Genomes Partnership (SGP) is pioneering Scottish research in human genome discovery through a £6m research funding award from the Scottish Government’s Chief Scientist Office (CSO) and the UK Medical Research Council (MRC).

To date it has sequenced almost 1,500 genomes for SGP, that includes 500 samples from the Viking Health study, which is exploring the functional implications of genetic variation using a richly phenotyped isolated cohort from Shetland.

SGP has also sequenced more than 650 samples in pioneering research to reveal causes of eye malformation, microcephaly disorders, dwarfism, disorders of sexual development and motor neurone disease.

This multi-centre pan-Scotland collaboration led by Professor Zosia Miedzybrodzka (University of Aberdeen) aims to provide proof of concept for genomic diagnosis of rare diseases in the Scottish NHS.

Miles Briggs, Scottish Conservative Health Spokesman, comments:

“This human genome research, into rare Scottish diseases, is extremely important for learning more about the diseases and discovering treatments.

“Without this research thousands of Scots with rare Scottish conditions would go undiagnosed and untreated.”

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Miles Briggs