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Ambition, courage and sharing: The Human Genome Project

The 90s, glorious and endless, were the fundamental pillars of the technological evolution of which we are riding the wave today. While the Soccer World Cup was starting in Italy, and Nelson Mandela was being elected Vice President of the African National Congress, in the US one of the most important Research project of the century was starting. Here the story (in short), between ups and downs, which led to the decoding of the entire human genome in 13 years.

Everything started in 1984 when during some meetings and congresses; the members of the United States Energy Department began to discuss how to structure a valid method for sequencing the human genome.

What is the genome? It is defined as all the genetic material in the chromosomes of a particular organism and its size is generally given as its total number of base pairs.

The Human Genome Project (HGP) was the international, collaborative research program whose goal was the complete mapping and understanding of all the genes of human beings. The initial aim was to develop scientific studies to detect mutations in the DNA of WWII survivors of the atomic bomb in Japan. The project involved a large number of researchers, multiple institutes and international contributions: researchers from the National Institute of Health in the United States were involved and James Watson was appointed to head the Human Genome Research Institute, which became the National Human Genome Research Institute (NHGRI) in 1989. United Kingdom, France, Japan, Canada, Germany and China joined the project giving life to a never seen before sharing of scientific material and becoming an international public consortium coordinated by the Human Genome Organization (HuGO)

The researchers involved (more than 2,800) have deciphered the human genome in three main ways: by determining the order, or "sequence", of all the bases in the DNA of our genome; creating maps showing the locations of genes for major sections of all our chromosomes; and producing link maps, through which inherited traits (such as those for genetic diseases) can be traced over generations.

The project has seen its completion thanks also to the synergy between public and private entities which, although the initial competition for supremacy, craving the potential treasure that would be discovered through the mapping of the genome, decided to work together to guarantee a process as accurate and safe as possible. This factor, together with the incredible ability of the researchers to share data almost in real time, allowed the project to be completed two years early then the schedule, in 2003.

Another surprising factor was that, as a public project, the Wellcome Sanger Institute ensured that the results of scientific research would be made accessible to all. This has led to the concomitant development by several sequencing companies of genetic tests useful to discover a possible genetic predisposition to different pathologies

The HGP has revealed that there are probably about 20,500 human genes. This ultimate product of the HGP has given the world a resource of detailed information about the structure, organization and function of the complete set of human genes. This information can be thought of as the basic set of inheritable "instructions" for the development and function of a human being.

This surprising project, even if it is particularly complex and structured, has not completely explained all the mysteries of the human genome.

When the majority of results were released and published, the head of the project in charge, Francis Collins, defined the genome as a book of 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."

The number of DNA letters sequenced by the project is approximately of 3 billion. Surprising isn't it? This may have made the enterprise ambitious and surprising but overall of fundamental utility for the community.

The final sequence produced by the Human Genome Project covers approximately 99% of the gene-containing regions of the human genome and was sequenced with 99.99% accuracy. Besides "reading", the project has taken on many other objectives, from the sequencing of the genomes of model organisms, to the development of new technologies to study entire genomes.

Among the collateral discoveries of the project, we cannot fail to mention the identification of over 3 million human genetic variations, called SNPs or single nucleotide polymorphisms (a variation in a single nucleotide that occurs at a specific position in the genome).

The results of the first draft were announced as early as June 2000 jointly by then US President Bill Clinton and British Prime Minister Tony Blair.

A success not of the individual, but of the entire community that still today cannot stop setting itself useful and curious goals on how we are made. This is Research, in any field: the union and collaboration of minds that strive to achieve unthinkable goals until their realization.

If you are curious, do not miss the information (from which this article takes its cue) contained on the site of the National Human Genome Research Institute (

Articolo a cura di: Marco Terrana

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