Human Genome Project | The initial sequencing of the human genome published in Nature in February, 2001

First edition of the initial sequencing of the human genome. An attractive copy in the original wrappers, complete with the original CD, the “Geography of Our Genome” poster, and a poster reproducing the journal cover in large format, all in unused condition. Together with a copy of The Genome Directory published as a Nature supplement in 1995, the extended human genetic linkage map published in 1996, and a poster of the genome as it was understood in 2000. Copies in such nice condition, particularly with the additional material, are rare.

The possibility of sequencing the entire humane genome had been proposed as early as 1979, and interest among both scientists and governments increased during the 1980s as technological advancements made the concept more feasible. The first federal funding was received in 1987 and the project was officially launched in 1990. Involving scientists in the US, Britain, France, Germany, Japan, and China, it remains the world’s largest collaborative biological research undertaking.

“The International Human Genome Sequencing Consortium published the first draft of the human genome in the journal Nature in February 2001 with the sequence of the entire genome's three billion base pairs some 90 percent complete. More than 2,800 researchers who took part in the consortium shared authorship. A startling finding of this first draft was that the number of human genes appeared to be significantly fewer than previous estimates, which ranged from 50,000 genes to as many as 140,000. The full sequence was completed and published in April 2003. Upon publication of the majority of the genome in February 2001, Francis Collins, then director of the National Human Genome Research Institute, noted that the genome could be thought of in terms of a book with multiple uses: ‘It's a history book - a narrative of the journey of our species through time. It's a shop manual, with an incredibly detailed blueprint for building every human cell. And it's a transformative textbook of medicine, with insights that will give health care providers immense new powers to treat, prevent and cure disease’” (”What is the Human Genome Project?”, website of the National Humane Genome Research Institute, National Institutes of Health).

In addition to the 2001 issue of Nature, this set includes The Genome Directory, published in September 1995 as a supplement to Nature volume 28, issue 6547S. As the introduction explains, “the speed with which the information [on the genome] has accumulated is remarkable... Even five years ago Genebank contained fewer than 3,000 genes, and only a few percent of the human genome had been mapped to contigs [overlapping sequences] of any sort. Yet this directory contains a description of 88,000 expressed sequence tags, or ESTs, of which 30,000 can be combined into contigs termed ‘tentative human consensus’ sequences”.

Also included is the final Généthon Human Genetic Linkage Map, published by Nature in March 1996. A French laboratory, Généthon was founded in 1990 with the specific aim of decoding and mapping the human genome as an outgrowth of research on muscular dystrophy. Pulling ahead of American teams working in the same field, they produced the first tentative mapping of the human genome in 1992, and released successive versions of it up to this one in 1996 before turning their focus to gene therapy (Généthon website). Finally, there is also a large poster published by Nature, “The 24 Volumes of the Human Book of Life (October 2000 edition)” that visualises the then-current map of the genome.