Genomics England partners with Illumina for rare disease pilot

21 October 2013

Genomics England (GeL) is to partner with Illumina and the University of Cambridge for the second major pilot of the 100,000 Genomes Project.
The first pilot project, to sequence 3,000 matched cancer and patient genomes in partnership with Cancer Research UK was announced earlier this month (see previous news). Now a further 2,000 whole genomes from patients with rare genetic diseases are to be sequenced as a second pilot, forming part of a wider initiative to sequence 10,000 rare disease genomes.
This is a partnership between GeL, the sequencing company Illumina and the NIHR Cambridge Biomedical Research Centre; the Cambridge BRC is itself a partnership between the University of Cambridge and Cambridge University Hospitals (for which the PHG Foundation is providing implementation and evaluation support).
Illumina will provide whole genome sequence data whilst the Cambridge BRC develops ‘the workflow and processes to bring routine clinical whole genome sequencing to the bedside’ and accelerate the diagnosis of rare diseases. Cambridge has already established an NIHR Rare Disease Bioresource and it is hoped that the new Rare Diseases Genome Project will help to make the NHS ‘a world leader in rare disease care’.
GeL Chief Scientist Professor Mark Caulfield commented: “We are excited to be partnering in this ground-breaking project to discover the genes underlying rare genetic diseases, which may lead to offering new tests and pave the way for new opportunities for treatment”.

Comment: Genomics England is forging ahead with constructive partnerships with established initiatives able to provide research expertise, infrastructure and sequencing services to support pilots for the 100,000 Genomes Project. This is a pragmatic approach, and likely to help stretch the £100 million funding for the project to meet targets and expectations. 

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