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Rare Disease Genomes Project to sequence 10,000 whole genomes

28 October 2013

By Dr Lucy Freem

Appeared in BioNews 729

A three-year joint project to sequence the genomes of 10,000 rare disease patients has been announced by Genomics England, the University of Cambridge, and Illumina.

There are an estimated 7,000 different rare genetic diseases and about 3.5 million people in the UK will be affected by one at some point in their lives. Because the individual diseases are rare, finding the genes involved in a particular disease is often difficult without information on the whole genome of the patient.

'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', said Professor Mark Caulfield, chief scientist at Genomics England.

The rare genetic diseases project is part of a wider programme in the UK to sequence 100,000 genomes. It is hoped that increasing the amount of genomic data available will improve healthcare outcomes and patient care in the NHS.

The University of Cambridge Biomedical Research Centre will use the project to develop processes to bring routine clinical whole genome sequencing into diagnostic use.

Sarah-Jane Marsh, chief executive at Birmingham Children's Hospital, said: 'More than five percent of babies are born with a genetic disease. At the moment, too many of the affected families are unable to access the best diagnostics and treatment available'.

PHG Foundation | 21 October 2013
University of Cambridge (press release) | 21 October 2013
Genome Web (subscription required) | 21 October 2013
Genetic Engineering and Biotechnology News | 21 October 2013


10 November 2014 - by Dr Simon Woods 
The 100,000 Genomes Project is raising some thorny ethical issues: what kind of feedback should research participants receive, and how?...
04 August 2014 - by Siobhan Chan 
The UK Government has announced it will provide £300 million funding for a project to sequence 100,000 genomes, saying that it will 'revolutionise [the] fight against cancer and rare diseases'...
17 March 2014 - by Dr Rachel Brown 
Researchers have pinpointed two genetic mutations behind a severe developmental disease seen in children of Moroccan Jewish descent...
17 March 2014 - by Chee Hoe Low 
Genome sequencing technology struggles to capture the complete genome accurately and reliably, a small study has found...
03 March 2014 - by Karen Birmingham 
The eight professors, including two Knights, who contributed to this event, were given a relatively easy time by the public, possibly because there was little time for questions or perhaps because the case for mass genotyping projects had been convincing...

09 September 2013 - by James Brooks 
A parliamentary report has recommended a ring-fenced fund to ensure access to 'low volume, high cost' treatments for rare diseases...
15 July 2013 - by Richard Fadok 
Whole genome sequencing suggests that around half of all people with autism may be carriers of genes already associated with the condition...
10 December 2012 - by Antony Blackburn-Starza 
The UK Government has announced plans that will allow 100,000 NHS patients to have their whole genome sequenced over the next three to five years, as part of a move to boost economic growth in the life sciences industry...
30 July 2012 - by Dr Nadeem Shaikh 
A US company has taken up the challenge to sequence 100 genomes in 30 days...

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