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A Good Read : The Human Genome

A first working draft of the sequence of the human genome has been completed as announced by the Wellcome Trust and the Sanger Centre in Cambridge England on June 26th, 2000. The Human Genome Project (HGP) conceived by the Department of Energy and the National Institutes of Health in the U.S. began in 1990. The international project which plans to identify all the genes of the human body has completed the initial stage of the work. The HGP is an international consortium that includes scientists at 16 institutions from the U.K., U.S.A., France, Germany, Japan and China. The five largest centres are located at the Sanger Centre in Cambridge, England, Washington University School of Medicine in St. Louis, Baylor College of Medicine in Houston, Texas, the Joint Genome Institute in California and the Whitehead Institute, Cambridge Massachusetts. Together, these five centres have generated about 82% of the sequence.

The announcement presented to the world in Cambridge is a fitting legacy to Drs. James Watson and Francis Crick of the University of Cambridge who described the DNA double helix in 1953. To date 85% of the human genome has been accurately deciphered. Further work, still to be finally checked, means that 97% of the human genome of 3.1 billion DNA bases (that's a mass of over 1 trillion Daltons !) has been read. Detailed work will continue for at least the next two years filling in gaps to produce a reference sequence. The sequence will be made public.

Despite some progress in the sequencing of DNA by mass spectrometry, the HGP project carried out the massive task through a top-down approach using more conventional sequencing methods involving amplification and gel-based analysis. A private company Celera Genomics (a division of PE Corporation) in Maryland U.S.A. have separately pursued the project (achieving 85% of the sequence to date) and have recently mapped the genome of Drosophila melanogaster (fruit fly). The company had intended to patent some of its discoveries and to sell this information to drug companies. In light of the announcement, Celera now says it will make its version of the genome sequence available at a later date.

The existence of this genetic map will lay the foundation for a revolution in medical diagnosis and treatment. Dr Michael Dexter, Director of the Wellcome Trust, which committed £210 million to the Sanger Center in Britian responsible for sequencing a third of the genome, said the completion of the first phase of the work marked a medical landmark that would stand alongside or even eclipse other great scientific discoveries of the past. "This is the outstanding achievement not only of our lifetime, but in terms of human history. Our genes make us what we are as human beings. It's these genes working together that maintain a healthy functioning body. Our genes make us susceptible or resistant to disease; tolerant or intolerant of medicines. What the sequence information will allow us to do is to identify precisely what genes go wrong when we develop disease. Our common humanity is set out in the wonderful spiral staircase that is our DNA, and at last we can read its letters."


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