News archive 2010
Study of 10,000 human genomes launched
25 Jun 2010, PR 144/10The UK10K project is expected to uncover many rare genetic variants that are important in human disease, giving a much deeper picture of genetics that can be applied to other studies both in the UK and around the world.
There are two components to the UK10K project: the genomes of four thousand people, who have each been studied for many diseases and traits over many years, will be completely sequenced; the gene-containing regions genomes of six thousand people with extreme obesity, neurodevelopmental disease and other conditions will also be studied.
The 4000 genomes will be from two important groups of people who have been studied for many years – the TwinsUK and ALSPAC (Avon Longitudinal Study of Parents and Children – also known as Children of the 90s) studies. TwinsUK includes 11,000 twins born in the UK, some of whom have taken part in studies for more than 18 years. ALSPAC includes more than 9000 people originally from Avon in southwest UK, followed from birth in 1991/2. The data for each group includes extensive description of their health and their development.
Largest genome sequencing project
‘We are fortunate in the UK to have such excellent collections of clinical samples provided by volunteers to help research and to help others,’ says Professor Spector. ‘10,000 volunteers have contributed to this, the largest genome sequencing project so far undertaken. It's a stunning commentary on the generosity of participants in UK studies.'
‘Although genetics over the past five years has yielded a rich harvest of hundreds of variants associated with disease, much more remains to be discovered,’ says Dr Richard Durbin, Principal Investigator on the Project, from the Wellcome Trust Sanger Institute. ‘With this award, we are seizing the chance to use technological advances in DNA sequencing to find variants that have even greater consequence for health.’
Studying this large group will help researchers build a near-complete catalogue of genetic variation in these 4,000 people. The depth of information recorded from them will provide a real opportunity to tie genetic variants to individual differences in health-related measurements. This should help identify the few thousand genetic variants – amongst the 3 million each of us carries – that are important in disease.
The researchers point out that the results will have most immediate impact in genetics, contributing to an ongoing transformation of our understanding of human genetic variation. In some cases this may have direct clinical relevance. But more often it will lead to advance in medical science in understanding disease biology, which should, in time, reach through to medical applications.
Notes to editors
The Wellcome Trust
The Wellcome Trust is a global charity dedicated to achieving extraordinary improvements in human and animal health. It supports the brightest minds in biomedical research and the medical humanities. The Trust's breadth of support includes public engagement, education and the application of research to improve health. It is independent of both political and commercial interests. www.wellcome.ac.uk
The Wellcome Trust Sanger Institute
The Wellcome Trust Sanger Institute, which receives the majority of its funding from the Wellcome Trust, was founded in 1992. The Institute is responsible for the completion of the sequence of approximately one-third of the human genome as well as genomes of model organisms and more than 90 pathogen genomes. In October 2006, new funding was awarded by the Wellcome Trust to exploit the wealth of genome data now available to answer important questions about health and disease. http://www.sanger.ac.uk
King's College London
King's College London is one of the top 25 universities in the world (Times Higher Education 2009) and the fourth oldest in England. A research-led university based in the heart of London, King's has nearly 23,000 students (of whom more than 8,600 are graduate students) from nearly 140 countries, and some 5,500 employees. King's is in the second phase of a £1 billion redevelopment programme which is transforming its estate.
King's has an outstanding reputation for providing world-class teaching and cutting-edge research. In the 2008 Research Assessment Exercise for British universities, 23 departments were ranked in the top quartile of British universities; over half of our academic staff work in departments that are in the top 10 per cent in the UK in their field and can thus be classed as world leading. The College is in the top seven UK universities for research earnings and has an overall annual income of nearly £450 million.
King's has a particularly distinguished reputation in the humanities, law, the sciences (including a wide range of health areas such as psychiatry, medicine and dentistry) and social sciences including international affairs. It has played a major role in many of the advances that have shaped modern life, such as the discovery of the structure of DNA and research that led to the development of radio, television, mobile phones and radar. It is the largest centre for the education of healthcare professionals in Europe; no university has more Medical Research Council Centres.
King's College London and Guy's and St Thomas', King's College Hospital and South London and Maudsley NHS Foundation Trusts are part of King's Health Partners. King's Health Partners Academic Health Sciences Centre (AHSC) is a pioneering global collaboration between one of the world's leading research-led universities and three of London's most successful NHS Foundation Trusts, including leading teaching hospitals and comprehensive mental health services. For more information, visit: www.kingshealthpartners.org.
Further information
Craig Brierley
Senior Media Officer
The Wellcome Trust
Email: c.brierley@wellcome.ac.uk
Tel: 020 7611 7329
Public Relations Department
King's College London
Email: pr@kcl.ac.uk
Tel: 020 7848 3202
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