Scientists releasing final human genome sequence usher in the genomic age

Hinxton 14 April 2003The International Human Genome Consortium has successfully completed the Human Genome Project more than two years ahead of schedule. The Wellcome Trust Sanger Institute, which was the only British organisation involved in the project, carried out nearly one-third of the work, making it the biggest contributor. Less than three years ago the international team announced the original working draft of the three billion letters that make up the code of life. However, the finished sequence is essential for growth of research worldwide to produce further medical advances.

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Anticipating this valuable resource, the Wellcome Trust Sanger Institute has already established programmes to tackle many of our common diseases. These have led to new medical insights, such as a mutation that causes malignant melanoma.

Professor Allan Bradley, Director of the Wellcome Trust Sanger Institute, stated: "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. 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."

Human genome data has attracted a huge number of enquiries from researchers around the world, with weekly hits on the Ensembl Web site - co-run by the Wellcome Trust Sanger Institute - rising from 30.000 in June 2000, when the draft sequence was announced, to almost 600.000 today. Scientists from more than 120 countries have made use of this valuable resource.

Access to comprehensive genomic data is powering drug discovery research in academic and commercial organisations. More than 350 biomedical advances have reached clinical trial stage, although experts point out it will be many years before new drugs emanating from the genome are produced. The sequence of the human genome will underpin biomedical research for decades. One of the demands of the research community was that the reference human sequence should be finished to the highest standards possible. The Sanger Institute is achieving an accuracy rating of 99,999 percent.

Dr. Jane Rogers, Head of Sequencing at the Wellcome Trust Sanger Institute, stated: "We have reached the limits we set on this project, achieving tremendously high standards of quality much more quickly than we hoped. The working draft allowed researchers to kick-start a multitude of biomedical projects. Now they have a highly polished end product which will assist them even more. It's a bit like moving on from a first-attempt demo music tape to a classic CD."

The accurate genome sequence will allow researchers to identify genes involved in more complex diseases including cancer and diabetes. Professor Kay Davies, Department of Human Anatomy and Genetics, University of Oxford, stated: "One of the great benefits to spring from the Human Genome Project is the full catalogue of genes, which gives us a clearer route to therapies. We now have a better navigating system. Using this, we have found genes that may compensate for the defect in muscular dystrophy using entirely novel methods, which could have implications for thousands of people."

Before the sequencing project began it could take researchers months or even years to find one gene. Now the same task can be completed in hours or days. Professor William Cookson, Senior Clinical Fellow at the Wellcome Trust Centre for Human Genetics, Oxford, stated: "The completed sequence will greatly help in the mapping of disease genes from the unfinished chromosomes. Dealing with the fragmentary information provided by the draft was better than dealing with no information at all, but the finished sequence will make our lives as disease gene hunters much easier."

In the last ten years, the Wellcome Trust Sanger Institute has grown from 17 staff to 650 today and is an expert, not only in sequencing DNA, but also in understanding the messages in our genes to improve human health. The achievement of a finished human genome sequence comes 50 years after James Watson and Francis Crick first elucidated the double-helical structure of DNA. When the human genome project was first announced, some believed that it would take as many as 20 years to complete, but advances in robotics and supercomputing have seen work finished in just under eight years since the plan was first outlined in 1995.


Leslie Versweyveld

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