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U.K. to Sequence 10,000 Genomes in 3 Years to Shed Light on Diseases

24 June 2010 11:58 am
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Today at the Science Museum in London, as part of a ceremony for the 10th anniversary of the completion of the first draft of the human genome, the Wellcome Trust announced the UK10K project to sequence the genomes of 10,000 people in the United Kingdom over the next 3 years. According to Richard Durbin, the leader of the UK10K project, the mammoth biomedical charity will commit about £10 million to this ambitious effort, which is intended to identify rare gene variants underlying illnesses that include obesity and schizophrenia.

Researchers plan to sequence the full genomes of about 4000 Brits already participating in long-running research studies; half will be from a major study of twins in the United Kingdom and the other half from the Avon Longitudinal Study of Parents and Children. Durbin, who's at the Wellcome Trust Sanger Institute in Hinxton, U.K., says that the project will look for insertions and deletions in each person's genome, as well as other subtle mutations, and attempt to associate those variations with any conditions afflicting the person. Many of the people volunteering for the study have been tracked since birth and have been the subject of repeated physiological measurements, he notes.

The other 6000 people in the UK10K project will have only their "exome"--the protein-coding portions of their genes--sequenced. Those in the exome-sequencing effort will all have "extreme phenotypes," says Durbin, in an effort to focus in on the role of genes in specific illnesses. Two thousand will be extremely obese; 3000 will have neurodevelopmental disorders such as schizophrenia and autism; and 1000 will have rare conditions, such as congenital heart disease, for which it is thought the interplay of multiple genes is key.

Durbin says the new project will build on the technology developed for, and lessons learned from, the international 1000 Genomes Project. The genomes studied in that project had no medical information associated with them, so it was solely intended to document human genetic variation, unlike the new effort, says Durbin.

As DNA-sequencing costs plummet, other biomedical projects analyzing multiple genomes have sprouted up, but Durbin believes the Wellcome Trust one is at the "top end of what people are doing." The closest comparable effort, funded with money from the U.S. economic stimulus legislation, will look at the genomes of 3500 people with diabetes, he says.