14th April 2008

Largest ever study of genetics of common disease just got bigger

DNA samples from 120,000 people are to be analysed in a £30 million follow up to last year's Wellcome Trust Case Control Consortium (WTCCC), the largest ever study of the genetics behind common diseases. The seven-fold increase in the number of samples to be analysed will allow researchers to look at a 25 diseases as well as studying the genetics of learning in children and individuals' responses to statins.

Funded by the Wellcome Trust, this new series of genome-wide association studies will be one of the most ambitious initiatives ever undertaken, bringing together leading research groups from at least 60 institutions internationally (including over 20 from the UK). Over the next two years, working in collaboration with the WTCCC or independently, the research teams are expected to analyse as many as 120 billion pieces of genetic data in the search for the genes underlying diseases such as multiple sclerosis, schizophrenia and asthma.

" The Sanger Institute is bringing the power of its skills in genetic analysis to tackle common disease, to provide leadership, expertise and resources where they can make a difference "

Prof Leena Peltonen

Researchers will examine between 500,000 and 1 million variants (SNPs) per sample as well as a comprehensive set of copy number variants (CNVs). Both SNPs and CNVs are responsible of the individual variation in our genomes.

"We have now entered a new era of large-scale genetics unthinkable even a few years ago," says Professor Peter Donnelly from the University of Oxford, who will chair the consortium. "Breakthroughs in our understanding of the human genome and rapid advances in sequencing technology mean that we are able to do very powerful analysis much faster and on a vastly bigger scale than ever before."

When the results of the WTCCC were announced in 2007, it was seen as a major breakthrough for medical science and was selected as one of the scientific highlights of the year by a number of the most prestigious scientific journals, including Nature and The Lancet. It identified a number of new genes and regions of the human genome which increase people's susceptibility to or protect them from particular diseases.

Dr Mark Walport, Director of the Wellcome Trust, says: "It is now possible to unlock the genetics of common diseases. Although genetics tells only part of the story of disease, it can provide valuable and often unexpected insights that offer the promise of developing new treatments for these often very complex diseases."

The research has been made possible by advances in progress in improved understanding of human genome variants, pioneered by the Wellcome Trust Sanger Institute at Hinxton, Cambridge. The Institute will devote a large part of its high-throughput genotyping pipeline headed by Dr Panos Deloukas to test many of the DNA samples. Most of the data analysis will be undertaken at the Wellcome Trust Centre for Human Genetics, University of Oxford.

"The Sanger Institute is bringing the power of its skills in genetic analysis to tackle common disease, to provide leadership, expertise and resources where they can make a difference," says Professor Leena Peltonen, who was appointed Head of Human Genetics at the Wellcome Trust Sanger Institute last year. "Our redefined strategy and joint expertise of human genetics faculty will ensure we deliver yet more ground-breaking results in clinically relevant areas."

Notes to Editors

Publication details

  • Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.

    Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, Plagnol V, Bailey R, Nejentsev S, Field SF, Payne F, Lowe CE, Szeszko JS, Hafler JP, Zeitels L, Yang JH, Vella A, Nutland S, Stevens HE, Schuilenburg H, Coleman G, Maisuria M, Meadows W, Smink LJ, Healy B, Burren OS, Lam AA, Ovington NR, Allen J, Adlem E, Leung HT, Wallace C, Howson JM, Guja C, Ionescu-Tîrgovişte C, Genetics of Type 1 Diabetes in Finland, Simmonds MJ, Heward JM, Gough SC, Wellcome Trust Case Control Consortium, Dunger DB, Wicker LS and Clayton DG

    Nature genetics 2007;39;7;857-64

  • Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.

    Parkes M, Barrett JC, Prescott NJ, Tremelling M, Anderson CA, Fisher SA, Roberts RG, Nimmo ER, Cummings FR, Soars D, Drummond H, Lees CW, Khawaja SA, Bagnall R, Burke DA, Todhunter CE, Ahmad T, Onnie CM, McArdle W, Strachan D, Bethel G, Bryan C, Lewis CM, Deloukas P, Forbes A, Sanderson J, Jewell DP, Satsangi J, Mansfield JC, Wellcome Trust Case Control Consortium, Cardon L and Mathew CG

    Nature genetics 2007;39;7;830-2

  • Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

    Wellcome Trust Case Control Consortium

    Nature 2007;447;7145;661-78

The Wellcome Trust Case Control Consortium

The Wellcome Trust Case Control Consortium, the largest ever study of the genetics behind common diseases such as diabetes, rheumatoid arthritis and coronary heart disease, published its results in the journal Nature on 6 June 2007.

The £9 million study was one of the UK's largest and most successful academic collaborations to date. It examined DNA samples from 17,000 people across the UK, bringing together 50 leading research groups and 200 scientists in the field of human genetics from dozens of UK institutions. Over two years, they analysed almost 10 billion pieces of genetic information.

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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.

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The Wellcome Trust

The Wellcome Trust is a global charitable foundation dedicated to achieving extraordinary improvements in human and animal health. We support the brightest minds in biomedical research and the medical humanities. Our breadth of support includes public engagement, education and the application of research to improve health. We are independent of both political and commercial interests.

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