Researchers have now completed the sequencing of the human genome, to an accuracy of 99.999 per cent, nearly three years after the first 'working' draft was published to great fanfare in June 2000. The achievement comes 50 years after James Watson and Francis Crick first elucidated the double-helical structure of DNA.
Professor Allan Bradley, director of The Wellcome Trust Sanger Institute in the UK, which completed about a third of the sequencing effort, said: "Completing the human genome is a vital step on a long road but the eventual health benefits could be phenomenal. Just one part of this work - the sequencing of chromosome 20 has already accelerated the search for genes involved in diabetes, leukaemia and childhood eczema."
The completion of the sequencing effort, covering the 2.9 billion chemical base pairs of the entire human genome, should accelerate the identification of the 25,000-30,000 genes that constitute the genetic make-up of human beings.
Professor William Cookson, senior clinical fellow at the Wellcome Trust Centre for Human Genetics in Oxford, UK, said: "Finding the genes underlying common complex diseases is essential, but extraordinarily difficult...for the first time, we have the ability to look at all genes that may be involved in disease at once. This may take four years off the usual six years for the gene discovery process, and is a huge advance."
Access to comprehensive genomic data is powering drug discovery research in academic and commercial organisations, and more than 350 biomedical advances have reached the clinical trial stage. However, genome researchers point out it will be many years before new drugs emanating from the genome are produced."We shouldn't expect immediate major breakthroughs but there is no doubt we have embarked on one of the most exciting chapters of the book of life," continued Bradley.
The human genome data has attracted a huge number of enquiries from researchers around the world, with weekly hits on the Ensembl "genome browser" website - co-run by the Wellcome Trust Sanger Institute and European Molecular Biology Laboratory - rising from 30,000 when the draft sequence was announced to almost 600,000 today.