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
  • Chromatin network markers of leukemia (2020)

    Przulj, Natasa (BSC-CNS)
    Valencia Herrera, Alfonso (BSC-CNS)

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    Chromatin network markers of leukemia

    The structure of 3-dimensional packing of the DNA in the nucleus (chromatin) impacts gene expression. Its alteration has been shown to coincide with the occurrence of cancer. A key challenge is in understanding the role of chromatin structure (CS) in cellular processes and its implications in diseases.

    We propose a comparative pipeline to analyze CSs and apply it to study chronic lymphocytic leukemia (CLL). We model the chromatin of the affected and control cells as networks and analyze the network topology by state-of-the-art methods. Our results show that CSs are a rich source of new biological and functional information about DNA elements and cells that can complement protein–protein and co-expression data. Importantly, we show the existence of structural markers of cancer-related DNA elements in the chromatin. Surprisingly, CLL driver genes are characterized by specific local wiring patterns not only in the CS network of CLL cells, but also of healthy cells. This allows us to successfully predict new CLL-related DNA elements. Importantly, this shows that we can identify cancer-related DNA elements in other cancer types by investigating the CS network of the healthy cell of origin, a key new insight paving the road to new therapeutic strategies. This gives us an opportunity to exploit chromosome conformation data in healthy cells to predict new drivers.

  • What’s sweeter than a robot made from candy? (2020)

    Puigmartí Luis, Josep (UB)

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    What’s sweeter than a robot made from candy?

    Nanobots have featured heavily in film and science fiction literature, with microscopic robots capable of taking over the mind, providing superheros with enhanced powers, or entering the body to treat and repair injury.

    While a dream for many years, research efforts in past decades have led to intriguing examples of real-world microrobots with some of these hoped for capabilities, including as non-invasive medical devices for the diagnosis and treatment of different diseases and pathologies.

    “These mobile systems are engineered to improve the efficacy of [therapeutics] and to reduce their toxicity by delivering them at affected sites of the human body,” wrote a team of authors led by Salvador Pané and Xiang‐Zhong Chen of ETH Zurich and Josep Puigmartí‐Luis of Universitat de Barcelona. “While these devices have demonstrated many potential biomedical in vitro and in vivo applications, current designs exhibit limited features that impede their translation to actual clinical scenarios.”

    In a recent study published in Advanced Materials, the researchers sought to solve this problem by making microrobots that are more biologically compatible; and they did this by making them out of candy.

  • Uncovering a genetic brain and heart developmental disease (2020)

    Pujol Onofre, Aurora (IDIBELL)

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    Uncovering a genetic brain and heart developmental disease

    A team led by Aurora Pujol at IDIBELL has identified a novel genetic disease caused by malfunction of the gene SHMT2 located in the mitochondria, the power -house of our cells. SHMT2 directs the production of an enzyme that controls the metabolism of folic acid and serine and glycine aminoacids, essential elements to form proteins, with a crucial role in brain development.

    As a consequence, children with SHMT2 deficiency suffer from a life-threatening condition with dysmorphology, deep cognitive development problems and sever motor disorder due to brain malformations, and progressive heart disease that may even require transplantation.

    To date only 5 patients have been identified through a project fostered by the URD-Cat, the Undiagnosed Disease Program of Catalonia and International collaborative networks including hospitals in the USA (Mayo Clinic), France (Nantes Hospital) and Barcelona (Sant Joan de Déu). Finding these patients was faciliated by the GeneMatcher platform, which connects clinicians and researchers worldwide sharing their genomic analysis and clinical records. Pujol’s group has developed specific computer tools aimed at identifying changes in the DNA in genes that are most likely to cause disease. This algorithm is trained to navigate among the thousands of variations in the genome that each person has and to discern those that best match to the specific clinical picture that the patient presents. In recent years, the algorithm has been key to diagnosing hundreds of patients with rare brain diseases.

    Currently, an experimental treatment by Dr Angels Garcia-Cazorla, has started at Hospital Sant Joan de Deu, replacing the lowered folic acid and adding a cofactor of the deficient enzyme, with striking improvement of biochemical function, milestones and life quality of one of the patients. This is another exemple of how genomic medicine can succesfully end diagnostic Odysseys of families who have been left unanswered for many years, while answering key scientific questions.The work has received the “Late-breaking news” Award at the Anual Symposium of the SSIEM, the Society for the Study of Inborn Errors of Metabolism.

  • The last meals of the extinct giant rhinoceros: Unexpected diet and cause of death (2020)

    Rivals, Florent (IPHES)

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    The last meals of the extinct giant rhinoceros: Unexpected diet and cause of death

    The now extinct giant rhinoceros, Elasmotherium sibiricum, also known as the ‘Siberian unicorn’, was one of the largest representatives of the formerly widely diverse family Rhinocerotidae. It survived in Eastern Europe and Central Asia until at least 39,000. This rhinoceros was the second largest among rhinoceroses. It weighed around 3500 kg and was over two meters high at the withers. The ecology of that extinct species is poorly known. According to its morphology (high crowned teeth), it should be expected to be a true grazer, exclusively feeding on grass. The objective of this research was to provide quantitative data to reconstruct the paleodiet of the elasmotheres. Two dietary proxies were used, tooth mesowear that indicate the ‘average’ diet over the last years of life of an individual, and microwear, a short-term signal, that reflects the diet over the last days or weeks before death. The fossil materials studied are coming from Irgiz 1, a site located in the Saratov region (Russia). The site is dated to the end of the Middle Pleistocene and the beginning of the Upper Pleistocene, about 120,000 years ago. Irgiz 1 is a paleontological site, and the elasmotheres there certainly died from natural causes.

    The long-term mesowear signal indicates that elasmotheres had a very abrasive diet i.e. it was grazing, as it could be expected from its dental morphology. The microwear pattern observed on the teeth revealed an unexpected browsing diet at the time of death (last days/weeks). This discrepancy between the two dietary proxies indicates it experienced a change in diet that occurred shortly before death. All the individuals recovered from Irgiz 1 shifted from a grazing to a browsing diet during the last days or weeks before they died. This sudden change in diet could be related to a catastrophic mortality event, perhaps related to the sudden accumulation of snow and ice coating (‘dzud’), limited the availability of grass and forced them to shift towards shrub /tree foliage that was still accessible. This first study of tooth meso- and microwear on elasmotheres provided unique data which allows us to broaden our knowledge about the diet of these animals.

  • Discovering a new dimension for spin control in topological materials (2020)

    Roche, Stephan (ICN2)

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    Discovering a new dimension for spin control in topological materials

    The ability to control and manipulate spin in materials is at the basis of spintronics, a field of research and branching sector of electronics that aims at using spin to carry and propagate information. Spin related phenomena are studied in order to take advantage of peculiar characteristics exhibited by some materials. Among them, transition metal dichalcogenide (TMDs) monolayers are particularly interesting. These two-dimensional materials exhibit an unusual spin-charge interconversion and topological characteristics, which are extremely relevant to their application.

    We recently predicted some unique features of a low-symmetry structural phase of the tungsten ditelluride (WTe2) monolayer which suggests alternative ways to manipulate spin information. Quantum transport simulations and modelling show that the structure of this material leads to an unprecedented canted quantum spin Hall (QSH) effect, which is stands as a new paradigm for topological physics.

    Typically, the strong symmetry in 2D materials’ structure compel the spins to align with one of the crystalline directions. In absence of such constrains, spins can assume arbitrary orientations. This is what happens in the so-called distorted octahedral phase (1T’) of the WTe2 monolayer, exhibiting a low-symmetry structure. While the traditional quantum spin Hall effect is usually associated with spin polarization pointing perpendicularly to the conducting plane, here a so-far-unique QSH effect defined by an oblique spin polarization axis is predicted. The orientation of this axis is prescribed by the spin-orbit coupling parameters, which are tuneable via a number of means: strain, electrostatic gates, substrates choice, or pressure.

    Remarkably, our predicted novel canted QSHE predictions has been confirmed experimentally by various groups just a couple of weeks ago. This research opens a new avenue for spintronics, in which spins can be controlled through the electronic environment, instead of by conventional magnetic means. 

  • A total lockdown needed to be enforced to contain COVID-19 first wave (2020)

    Rodó i López, Xavier (ISGlobal)

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    A total lockdown needed to be enforced to contain COVID-19 first wave

    At a time when the first wave of the COVID-19 pandemic was progressing out of control in Spain, we implemented a discrete-time epidemiological model specifically tailored to describe the transmission dynamics of SARS-COV-2, the etiological agent of COVID-19. We anticipated a collapse in the health care system in Spain in terms of its ICU capacity unless severe confinement restrictions were imposed. The model estimated the risk rate for each Spanish municipality, considering the following parameters: (1) the transmission dynamics of SARS-COV-2, (2) the usual movement patterns of the Spanish population, and (3) the demographics of the Spanish population. 

    This study was supplemented late in the year by a cautionary article in which we pointed that early studies of weather, seasonality, and environmental influences on COVID-19 have yielded inconsistent and confusing results. To provide policy-makers and the public with meaningful and actionable environmentally-informed COVID-19 risk estimates, the research community must meet robust methodological and communication standards.