Human Genome Project

The Human Genome Project (HGP) endeavored to map the human genome down to the nucleotide (or base pair) level and to identify all the genes present in it.

History

The Project was launched in 1986 by Charles DeLisi, who was then Director of the US Department of Energy's Health and Environmental Research Programs. The goals and general strategy of the Project were outlined in a two-page memo to the Assistant Secretary in April 1986, which helped garner support from the DOE, the OMB and Congress, especially Senator Pete Dominici. A series of Scientific Advisory meetings, and complex negotiations with senior Federal officials resulted in a line item for the Project in the 1987 Presidential budget submission to the Congress.

Related Topics:
1986 - Charles DeLisi - US Department of Energy's - OMB - Pete Dominici - Line item - 1987

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Initiation of the Project was the culmination of several years of work supported by the US Department of Energy, in particular a feasibility workshop in 1986 and a subsequent detailed description of the Human Genome Initiative in a report that led to the formal sanctioning of the initiative by the Department of Energy{{ref|barnhart}}. This 1987 report stated boldly, "The ultimate goal of this initiative is to understand the human genome" and "Knowledge of the human genome is as necessary to the continuing progress of medicine and other health sciences as knowledge of human anatomy has been for the present state of medicine". Candidate technologies were already being considered for the proposed undertaking at least as early as 1985{{ref|delisi}}.

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The $3 billion project was formally founded in 1990 by the United States Department of Energy and the U.S. National Institutes of Health, and was expected to take 15 years. Due to widespread international cooperation and advances in the field of genomics (especially in sequence analysis), as well as huge advances in computing technology, a rough draft of the genome was finished in 2000 (announced jointly by US president Bill Clinton and British Prime Minister Tony Blair on June 26, 2000), two years earlier than planned.

Related Topics:
$3 billion project - 1990 - United States Department of Energy - U.S. National Institutes of Health - Genomics - Sequence analysis - 2000 - Bill Clinton - British - Prime Minister - Tony Blair - June 26

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President Clinton had already awarded the Citizen's medal to DeLisi for his seminal role in the Project, in January 2000, before the completion of the Project was announced. The consortium comprised China, France, Germany, Japan, United Kingdom and United States.

Related Topics:
Citizen's medal - January - 2000 - Consortium - China - France - Germany - Japan - United Kingdom - United States

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Eight years after the HGP was begun, an identical quest was initiated separately with private venture capital by a company called Celera Genomics (founded by Craig Venter) while the HGP was still being pursued. Celera Genomics used a newer, riskier technique called whole genome shotgun sequencing, which had previously been used in the sequencing of bacterial genomes.

Related Topics:
Celera Genomics - Craig Venter - Whole genome shotgun sequencing

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The Celera effort was to proceed at a faster pace and at a fraction of the cost of the taxpayer-funded project (approximately $3 billion of taxpayer dollars versus about $300 million of private research funding).

Related Topics:
Taxpayer-funded project

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Celera initially announced that while sequencing, they would be seeking patent protection on 'only 200-300' genes, but later amended this to note that they would seek 'intellectual property protection' on 'fully characterized important structures' amounting to 100-300 targets. They also promised to publish their data to the public in accordance with the terms of the Feb 1996 "Bermuda Statement", by releasing it on a quarterly basis (the HGP released its new data daily).

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In March 2000, President Clinton announced that the genome sequence could not be patented, and should be made freely available to all researchers. The statement sent Celera's stock plummeting and the Nasdaq, in particular the biotech sector, into a precipitous decline (the biotech sector lost approximiately $50 billion in market capitalization in two days).

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Although the working draft was announced in June 2000, it was not until February 2001 that Celera and the HGP scientists published actual details of their drafts. Special issues of Nature (which published the publicly-funded project's scientific paper) and Science (which published Celera's paper) contained descriptions of the methods used to produce the draft sequence, as well as analysis of said sequence. These drafts are hoped to comprise a 'scaffold' of 90% of the genome with gaps to be filled later.

Related Topics:
Nature - Science

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The competition between the rivals proved to be very good for the project, and they agreed to pool their data. Ultimately the pooling agreement fell apart, though, when Celera refused to deposit its data in Genbank, an unrestricted public database. Celera did incorporate the public data into their genome, but the public effort was not permitted to use or merge the Celera data with theirs. On 14 April 2003, a joint press release announced that the project had been successfully completed by both groups, with 99% of the genome sequenced with 99.99% accuracy.

Related Topics:
14 April - 2003

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Each draft sequence has been checked at least four to five times to increase 'depth of coverage' or accuracy. Approximately 47% of the draft were high-quality sequences - the final version will have been checked eight to nine times giving an error rate of just 1 in 10,000 bases.

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The human genome project is one of a number of international genome projects in biology, each aimed at sequencing the DNA of a specific organism. While the human DNA sequence offers the most tangible benefits, important developments in biology and medicine are predicted as a result of the sequencing of model organisms including mice, fruitflies, zebrafish, yeast, nematodes and many microbial organisms and parasites.

Related Topics:
Genome project - Model organisms

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In October 2004, researchers of the HGP announced a new estimate of 20,000 to 25,000 genes in the human genome. Previously 30,000 to 40,000 had been predicted, while estimates at the start of the project reached up to as high as 100,000.

Related Topics:
October - 2004 - Researcher - Human genome

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