Destacats

Cada any, un comitè d'experts s'ha d'enfrontar a la difícil tasca d'escolllir, d'entre totes les publicacions ICREA, unes poques que destaquin sobre la resta. És tot un repte: de vegades els debats s'acaloren, i sempre són difícils, però acaba sortint-ne una llista de 24 publicacions. No es concedeix cap premi, i l'únic reconeixement addicional és l'honor d'ésser presentat com a Highlight. Cada publicació té alguna cosa especial, sia una solució especialment elegant a un vell problema, un resó espectacular als mitjans de comunicació o simplement, la fascinació d'una idea revolucionària. Independentment del motiu, es tracta dels millors dels millors i, com a tals, ens plau compartir-los aquí.

LIST OF SCIENTIFIC HIGHLIGHTS

Format: yyyy
  • A compendium of mutational cancer driver genes (2020)

    López-Bigas, Núria (IRB Barcelona)

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    A compendium of mutational cancer driver genes

    Cancer is a group of diseases characterised by uncontrolled cell growth caused by mutations, and other alterations in the genome of cells. A tumour can present from hundreds to thousands of mutations, but only a few are vital for its tumorigenic capacity. These key mutations affect the function of cancer driver genes. Finding the genes that harbour this cancer driver mutations is one of the main goals in cancer research.

    Since cancer driver genes are under positive selection in tumorigenesis, identifying signals of positive selection in the patterns of somatic mutations across tumors is an effective way to identify cancer genes. We have implemented a systematic approach combining several of these signals to generate a compendium of mutational cancer genes. Its application to somatic mutations of more than 28,000 tumours of 66 cancer types revealed 568 cancer genes and points towards their mechanisms of tumorigenesis. The application of this approach to the ever-growing datasets of somatic tumour mutations will support the continuous refinement of our knowledge of the genetic basis of cancer.

    All the results are available at http://www.intogen.org

     

  • Fusion plasma experiments with controlled variations of the fast ion distribution on ASDEX Upgrade tokamak (2020)

    Mantsinen, Mervi Johanna (BSC-CNS)

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    Fusion plasma experiments with controlled variations of the fast ion distribution on ASDEX Upgrade tokamak

    Ion Cyclotron Resonance Frequency (ICRF) heating plays an important role in many present day fusion experiments and it is one of the auxiliary heating methods that will be used in the next step device ITER. On the ASDEX Upgrade tokamak, novel applications of ICRF waves for plasma heating have become recently possible through the improved operating space of ICRF system and, in particular, its extended frequency range [1]. They have been instrumental for the experiments using third harmonic ICRF heating of neutral beam injected deuterons for fast ion studies and for further development of fast ion and neutron diagnostics. Figure shows a typical discharge with a more than two-fold increase of the neutron rate due to deuterium-deuterium fusion reactions involving ICRF-accelerated deuterons that has been achieved with this scheme in AUG. These developments have provided for the first time a means for simultaneous controlled variations and measurements of both the confined and the non-confined parts of ICRF-driven fast deuterium distribution on AUG.

  • New genome mapper is like “upgrading from dial-up to fibre-optic” (2020)

    Martí-Renom, Marc (CRG)

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    New genome mapper is like “upgrading from dial-up to fibre-optic”

    Researchers from Harvard university, the Centro Nacional de Análisis Genómico (CNAG) and the Centre for Genomic Regulation (CRG), describe the first technology able to visualize hundreds to potentially thousands of genes at the same time under the microscope. The tech images genomes more cheaply, more quickly and increases range of visibility compared to currently available methods. The technique was described in Nature Methods.

    Each human cell has two metres of genome condensed down into 10 microns within the cell nucleus. This blueprint of life folds to help genes make physical contact with other genes that may be located quite a distance away along the chromosome. This three-dimensional organisation is crucial for cell function, but its complexity and constant dynamism make it incredibly difficult to visualize. Imaging more than a handful of genes at the same time has been impossible, limiting researchers’ ability to characterize how genomes function. We developed OligoFISSEQ, a technology using new computational methods that overcomes these current limitations. 

  • Disruption of type I interferon is often the cause of life-threatening COVID-19 (2020)

    Martínez-Picado, Javier (IrsiCaixa)
    Pujol Onofre, Aurora (IDIBELL)

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    Disruption of type I interferon is often the cause of life-threatening COVID-19

    More than 10% of young and healthy people who develop severe COVID-19 have misguided antibodies that attack not the virus, but the immune system itself, and another 3.5%, at least, carry a specific kind of genetic mutation.

    In both groups, the upshot is the same: The patients lack type I interferon, a set of proteins crucial for protecting cells from viral infections. Whether the proteins have been neutralized by so-called auto-antibodies, or were not produced due to genetic mutations, the missing-in-action of the first barrier against SARS-CoV-2 appears to be a common theme among a subgroup of severe COVID-19 sufferers.

    Published in two back-to-back papers in Science, and highlighted as one of the Top 10 scientific discoveries of 2020 by the journal Nature, the findings help explain why some people develop a disease much more severe than others in their age group.

    One study analyzed the genomes from more than 650 patients who had been hospitalized for life-threatening pneumonia due to SARS-CoV-2. It also included samples from another 530 people with asymptomatic or benign infection. A significant number of patients (around 3.5%) with severe disease carried rare pathogenic variants in 13 genes that govern the type I interferons. As a consequence, their immune cells did not produce type I interferons in response to the virus.

    The second study examined 987 patients with life-threatening COVID-19 pneumonia. More than 10% had auto-antibodies against interferons at the onset of their infection. The majority of them, 95%, were men. Biochemical experiments confirmed these auto-antibodies, which are extremely rare in the general population, can effectively curb the activity of interferon.

    The findings point to certain medical interventions to consider for further investigation, including therapies with two types of interferons available as drugs and approved for use to treat certain conditions.

    These are the first results being published out of the COVID Human Genetic Effort, an ongoing international consortium spanning over 50 sequencing hubs and hundreds of hospitals around the world.

  • Phase transitions from the fifth dimension (2020)

    Mateos, David (UB)

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    Phase transitions from the fifth dimension

    Phase transitions are ubiquitous in Nature. They are common in our everyday's life (cooled water turns into ice) and they play a crucial role in particle physics (at high temperatures neutrons and protons melt into a plasma of quarks and gluons). Yet, following the dynamics in real time of a system undergoing a phase transition is extremely difficult with conventional methods, since the physics involved is typically out of equilibrium. For this reason we have used a string-theoretical tool known as "holography", which maps the properties of quantum matter in our four-dimensional world to those of … a classical black hole in five dimensions!

    By solving Einstein's equations in five dimensions we have determined the time evolution of the black hole horizon, and from this the evolution of the four-dimensional system across the phase transition. We have shown that a supercooled or superheated system evolves into a "phase-separated" state in which the two phases coexist in thermal equilibrium -- as ice cubes floating in water or as a quark-gluon plasma coexisting with a gas of protons and neutrons. Moreover, we have been able to determine the shape of the interface between the two phases, since this corresponds to the shape of the black hole horizon in five dimensions. 

  • Design and fabrication of nanoparticle-based lateral-flow immunoassays (2020)

    Merkoçi, Arben (ICN2)

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    Design and fabrication of nanoparticle-based lateral-flow immunoassays

    Lateral flow assays (LFAs) represent one of the most important point of care (POC) devices for diagnostics applications. LFAs are quick, simple and cheap assays that can be used to analyse various samples out of the laboratory making them one of the most widespread biosensors currently available. LFAs have been successfully employed for various applications that range from chemical to biochemical analytes in various kinds of samples (ex. water, blood, food or environmental samples). LFAs operation is based on the capillary flow of the sample throughout a series of sequential pads with different functionalities aiming to generate a signal to indicate the absence/presence (and, in some cases, the concentration) of the analyte of interest. To have a user-friendly operation, their development requires the optimization of multiple and interconnected parameters. This process is quite important for those who are involved in the LFA development and application. In this tutorial we provide the readers with important knowledge including procedures and results with interest for research and development of LFAs based on nanoparticles as signalling tools. Some basic knowledge to understand the principles governing an LFA and to take informed decisions during lateral flow strip design and fabrication are given first. This is followed by a roadmap for optimal LFA development independent of the specific application and step-by-step example procedure for the assembly and operation of an LF strip for the detection of human Immunoglobulin G. The tutorial also contains an extensive troubleshooting section addressing the most frequent issues in designing, assembling and using LFAs. By changing only the receptors, the provided example procedure can easily be adapted for cost-efficient detection of a broad variety of targets with interest for various applications including applications with interest for some COVID19 related biomarkers.