Human Genome Project

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The longest and final chapter in the Book of Life, the human genetic code, has been published.
Scientists have completed a detailed blueprint of Chromosome 1, which contains 8% of all human genetic information and 3,141 genes. It marks the last part of the vast jigsaw pieced together by the Human Genome Project (HGP), the mapping out of the entire human genome, described as a “monumental achievement”.

The Human Genome Project (HGP) was one of the great feats of exploration in history – an inward voyage of discovery rather than an outward exploration of the planet or the cosmos; an international research effort to sequence and map all of the genes – together known as the genome – of members of our species, Homo sapiens. Completed in April 2003, the HGP gave us the ability to, for the first time, to read nature’s complete genetic blueprint for building a human being.

Chromosomes are the bundles of DNA that exist at the heart of every cell. Humans have 22 pairs of chromosomes plus the X and Y sex chromosomes. The largest of all is Chromosome 1, which is associated with more than 350 human diseases linked to altered DNA. Among them are conditions as varied as cancers, Parkinson’s and Alzheimer’s disease, high cholesterol and porphyria – the nervous system disorder thought to have afflicted King George III.
The completed sequence published in the journal Nature has already been used to identify more than 1,000 new genes. It is expected to help researchers find novel treatments and ways of diagnosing many diseases.

In the past year alone, genes involved in a dozen diseases, including cancer and neurological disorders, have been identified using the Chromosome 1 sequence. Dr Simon Gregory, from Duke University, who was in charge of the project while at the Sanger Institute, said: “The sequence we have generated, like that produced by our collaborators throughout the Human Genome Project, has driven biomedical discovery. “This moment, the publication of the sequence from the last and largest human chromosome, completes the story of the HGP and marks the growing wave of biological and medical research founded on the human genome sequence. Chromosome 1 contains fascinating stories of chromosome biology, of our evolution, and our health, and it’s inspiring to have played a part in a programme that will have so much power to understand the essence of human biology.”


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