Vanguard digs deep into data at Oxford

June 23, 2000

This is the genetic coalface. If the sequencing of the human genome is charting all the rich seams and deposits of our DNA, it is in such cutting-edge institutes as the Wellcome Trust Centre for Human Genetics that the promised therapies and deeper understanding will be mined.

If the optimism of some scientists is justified, perhaps a gold mine might be a better analogy.

The much-anticipated announ-cement of the completion of the so-called rough draft of the human genome is a powerful symbol of mankind's ongoing endeavour to unlock the potential of our genes.

Yet the distinguished scientists who met for the centre's official opening in Oxford on Tuesday were unanimous - the task that lies ahead, to turn that information into something useful, will by no means be easy.

The Pounds 20-million centre, housed in the Henry Wellcome Building for Genomic Medicine and part of the Oxford Institutes of Health Science, brings together a great deal of scientific talent matched with state-of-the-art facilities to reveal the innermost secrets of common diseases.

It has been set up, under the direction of Anthony Monaco, through a collaboration between the Wellcome Trust, the University of Oxford and the British Heart Foundation.

It is a central plank of the trust's contribution towards the "post-genomics revolution", which includes some Pounds 100 million in support for functional genomics projects, funding for the new synchrotron and the setting up of the Single Nucleotide Polymorphisms consortium to create a high-quality map of genetic markers.

Sir Michael Rutter, a Wellcome Trust governor, said the centre's multi-disciplinary approach was central to ensuring the success of moving from DNA sequencing to health-care delivery.

That means groups identifying which human genes are linked to susceptibility to common diseases, finding the function of those genes and studying the structure of those chemicals that link the genetics and the physical condition.

"Within the next few weeks we'll be announcing the completion of the drafting of the genome sequence," Sir Michael told the symposium that marked the centre's opening.

"This project is clearly going to provide a source of information that will greatly improve our knowledge of disease and, in time, revolutionise the way we diagnose and treat it. But it's only beginning. They have provided us with the map - we now need to go on to understand the lie of the land."

The potential impact of this work on society make it crucial that the scientists involved listen to public concerns and participate in the ongoing debates, Sir Michael said.

"We have to demonstrate the benefits of this new science and medicine and also acknowledge the complex social and moral issues that arise from this new understanding," he said.

However, this understanding would be a long time coming, warned Sir David Weatherall, regius professor of medicine at the University of Oxford.

Sir David focused on his own work on haemoglobin deficiencies to demonstrate how complex and multi-layered the genetics of disease was proving to be.

No fewer than 180 versions, or alleles, of a key gene needed for the formation of healthy blood have been found so far, many of which could have different impacts on the carrier's health. This was complicated further by the mitigating effect that some mutations of other genes can have. So two people with an identical, damaged version of this key gene might have very different problems.

The impact of the environment, which could also result in an identical set of genes leaving some people with severe disability while others, who lived in a different climate, for example, were relatively untouched.

"Identical genes can have very different impacts," Sir Michael said.

Baruch Blumberg of the Fox Chase Cancer Center in Philadelphia and former master of Balliol College, Oxford, performed the opening ceremony. He said that studying the effects of the environment on genetics was especially important.

"DNA may set the possibilities but the environment often determines the outcome and human action can counteract the destiny imposed by genes," he said.

This ability to alter the environment in which the genes found themselves was one way in which a genetic health condition could be tackled.

All of this would require an enormous effort to collect and sift through the data and may take a century to overcome, predicted Robert Elston, a genetic epidemiologist at Case Western Reserve University, in Cleveland, Ohio.

Research, page 25

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