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The human genome at 10

Tom Feilden | 13:11 UK time, Monday, 21 June 2010

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"Today we are learning the language in which God created Life."

When President Bill Clinton unveiled the first draft of the human genome - the complete genetic blueprint for an individual person - in a live transatlantic celebration, you could be forgiven for thinking hyperbole was going out of fashion.

Hailed as a breakthrough to rival the discovery of DNA itself, the achievement would revolutionise health care, paving the way for cures to our most intractable diseases, and launch a new era of personalised medicine.

Given the tools available at the time the unravelling of the genetic code - mapping out the three billion chemical letters of all the genes present in every one of the hundred billion cells in the human body - was an astonishing achievement. The culmination of a decade of hard work by hundreds of researchers and computer scientists both here and in the United States.

"We flopped over the line in June 2000 pretty much exhausted," recalls professor Mike Stratton, now the director of the Wellcome Trust's Sanger Institute, where the UK effort to sequence the human genome was focused. "Just doing that, just getting to that milestone, was a massive enterprise".

But it was also just a start. Many of the scientists involved - if not the politicians - understood that it would take years more hard work, and a massive increase in the power and speed of gene sequencing, to realise the dream of a revolution in health care outcomes.

That's because the real benefit of this "complete parts list" for all 21,000 genes in the human body, comes from comparing it with other genomes. Only then can scientists begin to tease out the subtle differences - the individual genetic mutations - that give rise to disease.

Standing somewhat incongruously, like an oversized 1950's washing machine, in the Atrium of the Wellcome Trust's Sanger Institute just outside Cambridge, is one of the robotic sequencing machines that did so much of that ground breaking early work.

But while the ABI 3700 could sequence 96 snippets of DNA at a time, ten years on it's already little more than a museum piece. Humming continuously in the Institute's main sequencing hall the latest generation of sequencing machines can process an entire human genome in a fraction of the time.

"The initial human genome sequence took many many years," Says the head of gene sequencing at the Sanger Institute, professor Julian Parkhill. "One of these machines will generate a whole human sequence in a matter of weeks. At the moment we're sequencing hundreds of individual humans and planning to sequence thousands more over the next few years".

One area of medical research that has been transformed by the lessons of the human genome project is cancer.

Because all cancers result from mutations in the DNA of individual cells, having a reference blueprint has allowed scientists like professor Mike Stratton to begin to hunt down the variants that give rise to disease.

"These abnormal cancer genes are the achilles heel of the cancer. They provide us with our first stop as drug targets. So that's an illustrative and optimistic and positive way in which we can use the human genome to find new ways to treat human disease".

To date only a handful of the genetic mutations that give rise to disease have been identified. But, even after ten years, it's still early days. As the computing power of sequencing increases - and costs fall - it should be possible to tailor specific drug regimes to individual patients - the much heralded era of personalised medicine.

The post-genomic revolution has only just begun.

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