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From the human genome sequencing onwards


Roberto Cingolani
Scientific Director, Istituto Italiano di Tecnologia, Genova, Italy

In order to understand which are the most relevant and innovative research areas that investigate the treatment of man, it is necessary to first write about genomics.
The first version of human genome sequencing – occurred in 2001 – represented the apex of a ten-year common effort of hundreds of scientists from the best laboratories worldwide. It allowed to have a semi-definitive estimate of the number of genes (around 25,000) and of codified proteins, offering an image of the diversity of our cells, tissues and organs.
These 17 years have been characterized by a quick technological advancement and by new scientific discoveries that have created important opportunities, especially for citizens’ health. In 2018 we are now capable of sequencing 100 human genomes a week with a single instrument at a cost that makes this technology accessible on a large scale. Therefore, it possible to explore the role played by heterogeneity in diseases where similar clinical pictures can be produced by different genomic alterations, requiring pharmacological treatments differentiated ad personam, “personalized” medicine.

New drugs have been produced capable of acti ...

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