The project represents a pilot for Genomics England, which will provide 2,000 samples, and marks the beginning of the national endeavor to sequence 100,000 genomes in the UK National Health Service (NHS), announced recently by the Prime Minister, David Cameron.
“This project will bring enormous improvements to the care of patients with rare genetic diseases. It will shorten the gap between the first signs of ill-health in a person and providing a conclusive diagnosis by using the power of modern DNA sequencing methods,” said Dr John Bradley, Director of the NIHR Cambridge Biomedical Research Centre, a partnership between the University of Cambridge and Cambridge University Hospitals.
Today, most patients with a rare genetic disease go through a diagnostic odyssey to find the cause. For many, the long search remains unsuccessful, which not only prevents the delivery of optimal care, but also may aggravate the condition. To improve patient care in the UK National Health Service (NHS), the University of Cambridge will work with the team led by Dr. David Bentley, Vice President and Chief Scientist for Illumina, to develop the workflow and processes to bring routine clinical whole genome sequencing to the bedside.
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Image: An overview of the structure of DNA
Credit: Michael Ströck
Reproduced courtesy of the University of Cambridge
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New initiative will sequence 10,000 whole genomes of people with rare genetic diseases
22 October 2013
The University of Cambridge, Genomics England and Illumina, Inc. have announced the start of a three-year project that will sequence 10,000 whole genomes of children and adults with rare genetic diseases.