by Elena Meli
The genome sequencing project of all Icelanders turns 25: today the largest genetic database in the world, a data mine to understand the role of genes in hundreds of diseases (or behaviors) and to find new treatments
A desolate island far removed from the rest of the world, with a sheep population vastly superior to the group of people who colonized it, which over the centuries have had to adapt to volcanic eruptions, earthquakes and waves of the black plague. Yet here, in Iceland, one of mankind’s most important scientific achievements was taking shape, a project whose 25th anniversary has just been celebrated with a conference celebrating the achievements achieved and outlining the path of the search for the future: thanks to Durch the sequencing of the DNA of all the inhabitants of the island by deCODE genetics, today we know better the genetic diversity of the human species and, above all, genes that influence the risk of over 400 diseases have been identified and which in some cases could become , the shape for innovative medicines .
A special population
In Reykjavik they are justifiably proud, because medical history was written in this laboratory made of wood, glass and steel, for example with the first discovery of genetic variants associated with an increased risk of certain types of cancer or Alzheimer’s, diabetes or cardiovascular diseases are; To date, deCODE has collected data on over 10,000 human characteristics linked to diseases but also to behavioral or cognitive elements (variants linked to the passion for crossword puzzles have also been discovered), thanks to the full sequencing of 350,000 genomes. A huge database that today collects the genetic and health data of 2.5 million people around the world: Since 2017, the attempt to read the human genome has actually spread beyond Iceland, confirming many of the discoveries made to residents an island that has become a genetic laboratory thanks to its geographical location and history. Unnur Thorsteindottir, Vice President of Genetic Research at deCODE, explains: The Icelandic population is homogeneous and small, but large enough to study the influence of genes on most human diseases. Since 1997 we have started compiling the “Book of Icelanders” in which we have reconstructed the genealogy of our compatriots; This data, combined with the fact that the so-called “founder effect” (a population descended from a small number of ancestors and therefore with low genetic variability, editor’s note) has occurred on the island, has made it possible , achieve exceptional results.
therapies of the future
Icelandic, for example, the first high-resolution map of the human genome: the island’s residents answered the call in large numbers, and the researchers were able to analyze the DNA of about half the population, out of 175 thousand people, a total of 340 thousand souls. Today, the deCODE gene database is the largest in the world and paves the way for a new era of medicine in which, thanks to Big Data, it will be possible to understand not only human diversity, but also the interaction between genes and the Environment: deCODE’s supercomputers process about four quadrillion pieces of data per second and can extract 100 petabytes of data extracted from the volunteers’ DNA (one petabyte equals a thousand terabytes). We have gone from looking for data to extracting knowledge from the data we collect: instead of making hypotheses to test, we let the biology of our DNA “talk to us”, observes Kari Stefansson, founder of deCODE. We identify connections, genes that are involved in a more or less high risk of disease in order to be able to carry out more and more targeted therapies. The second part of the journey is possible thanks to Amgen, which acquired deCODE in 2012, and as Ray Deshaies, Amgen’s senior vice president of research, explains, to date, 80 percent of known proteins, and therefore their functions, are unmodifiable drugs: the thorough analysis of the genome makes it possible to find the best way to intervene, even if we cannot do it at the moment.
May 19, 2022 (Change May 19, 2022 | 15:13)
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