REYKJAVIK – A quarter of a century spent mapping 2.5 million genotypes and 350,000 complete genome sequences to snap what we might consider a giant collective molecular selfie. This is what the researchers of DeCode Genetics did, the company of the Amgen group that has been analyzing in detail the characteristics of the DNA of Icelanders since the 90s. To celebrate 25 years of genetic research and the contribution made to the understanding of ‘human diversity’, a conference was organized in Reykjavik which saw the participation of scientists, researchers and academics from all over the world directed by the direction of Magdalena Skippereditor in chief of the scientific journal Nature.
Pioneers in genome mapping
An anniversary full of stages to be told in order to better understand where scientific innovations will lead us and how the way of doing research is changing, also in light of what happened with Covid-19. The genetic mapping carried out in recent years has the potential to accelerate the discovery and development of drugs, improve understanding of the development of diseases, and more precisely identify therapies based on patient characteristics. “From the beginning we have been pioneers in collecting large-scale genetic and health data and using sophisticated statistical methods,” he said. Kari Stefansson, who prior to founding DeCode genetics was a professor of neurology, neuropathology and neuroscience at Harvard University and director of neuropathology at Beth Israel Hospital in Boston. “This is why we were the first to provide a high-resolution genetic map of the human genome. We have accumulated more human data than any other organization in the world and are using our resources to shed new light on the diversity of the human genome and its interaction with the environment “.
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The laboratory island
The data behind DeCode’s findings were first generated in Iceland, where the small and largely homogeneous population offers certain advantages such as complete genealogical and clinical documentation and what is considered the ‘founder effect’, i.e. when a population descends from a small number of ancestors, which reduces genetic diversity. The numbers that the DeCode genetics researchers are rattling off in these two days of celebration of 25 years give the idea of the revolution in progress: 2.5 million mapped volunteers of which 175 thousand Icelanders, 350 thousand complete genetic sequences, 10 thousand phenotypes. Data that make up the puzzle of our diseases, but also of the predisposition that each of us has for certain behaviors such as, for example, the way we sleep or the smell we emanate.
Not just Icelandic geniuses
Yet, despite the advances in modern medicine, it is still difficult for doctors today to answer the fundamental questions of patients, who would like to know if they will recover, if their disease will get worse, whether or not they will benefit from therapy. Researchers are convinced that many of the answers can be found in DNA and human data collected around the world. The challenge is to work effectively with the huge amount of data needed to draw a clear picture of how diseases manifest themselves and how we can stop them. “Starting from 2017 – he explained Unnur Thorsteinsdottir, head of genetic research at DeCode genetics – we have expanded our research area far beyond the relatively homogeneous Icelandic base to approximately 2.5 million people from around the world. We are now able to collect, store and extract data at an inconceivable magnitude 10 or 15 years ago. “
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International collaborations
International collaborations are also boosting genetic research. “We are one of four partners in the ambitious Whole Genome Sequencing Project led by the UK Biobank, which aims to sequence the entire genome of half a million people,” he explained. Ray Deshaies, Amgen’s senior vice president of Research. “A collaboration with Intermountain Healthcare, a US health care network, is also underway to analyze the genome of 500,000 patients who have volunteered.”
Transcrriptomics and proteomics
There is enough raw information in a single human genome to fill a small library. But genomics is just one branch of science that is referred to as ‘omics’. Our genes are like unspoken words until they are transcribed into RNA and the science of transcriptomics can tell us which genes are expressed and which are silent. RNA, in turn, provides the model cells used to assemble the myriad of proteins that drive biology, while proteomics offers a detailed census of proteins present in blood or tissues.
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The technology that puts the turbo
Taken together, the data flowing from the various branches of the omic is like pixels that can be assembled to build an ever sharper picture of how the disease develops. All this today happens at a speed unthinkable until a few years ago thanks to technology. To process the data of two and a half million volunteers, 52 thousand processors are used in the genetics laboratory in Reykjavik and their servers are able to manage 100 petabytes of data (one petabyte corresponds to 1,024 terabytes, ed) generating a quadrillion of operations per second. “The technology we have available today – he declared in his speech Gisli Massonvice president of computer science at DeCode genetics – can deliver new biomarkers much faster with which we can achieve earlier disease diagnosis, faster and more successful clinical trials, and be able to predict and prevent disease before it becomes difficult. managing their health and social impact “.
From the genome to the tailor-made drug
What will all this genome research actually serve? “Many common diseases such as heart attack, asthma, stroke and cancer result from a complex interplay of multiple genetic, environmental and lifestyle factors,” says Stefansson. “By bringing together the full complement of human data, we are making groundbreaking discoveries about how these factors interact in disease.” Type 2 diabetes, myocardial infarction, aneurysm, atrial fibrillation, prostate, lung and breast cancers, but also nicotine addiction, coffee abuse and weight: there are over 400 diseases for which they are already Genetic correlations have been identified and in the group there is also Covid-19. “We have been at the forefront of developing and implementing new technologies to collect, store and analyze this huge amount of human data to address the Covid-19 pandemic in Iceland, monitoring the spread of the coronavirus, studying mutations in SARS- CoV-2 and measuring the duration of human antibodies against the virus, “Ray Deshaies said at a press conference adding that” not having an infectious disease division, they have chosen to share genetic information relating to Covid-19 to companies that can undertake research clinics and develop drugs or vaccines “.