Highlights

Every year, a committee of experts sits down with a tough job to do: from among all ICREA publications, they must find a handful that stand out from all the others. This is indeed a challenge. The debates are sometimes heated and always difficult but, in the end, a shortlist of 24 publications is produced. No prize is awarded, and the only additional acknowledge is the honour of being chosen and highlighted by ICREA. Each piece has something unique about it, whether it be a particularly elegant solution, the huge impact it has in the media or the sheer fascination it generates as a truly new idea. For whatever the reason, these are the best of the best and, as such, we are proud to share them here.

LIST OF SCIENTIFIC HIGHLIGHTS

Format: yyyy
  • Making sense of nonsense mutations in disease using machine learning (2019)

    Supek, Fran (IRB Barcelona)
    Lehner, Ben (CRG)

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    Mutations in DNA can disrupt protein synthesis, sometimes causing truncated proteins which don’t work as intended. Known as nonsense mutations, these types of alterations can give rise to hereditary diseases and different types of cancer. To keep the number of truncated proteins to a minimum, human cells recognise and remove RNAs with nonsense mutations through a quality control process known as nonsense-mediated mRNA decay (NMD).

    To better understand the effect of NMD on human disease, we have built NMDetective, a tool describing every possible nonsense mutation that can occur in the human and mouse genomes.  Developed by large-scale statistical analyses based on machine learning, the algorithm identifies which mutations in the genome are susceptible to NMD.

    As described in Nature Genetics, we used NMDetective to analyse thousands of genetic variants that are known to give rise to hereditary diseases in humans. We were surprised to observe that, in many cases, NMD activity was actually predicted to lead to a greater severity of the disease. This suggests that pharmacological NMD inhibition could slow the progression of many different genetic diseases. To distinguish which patients would benefit from this therapy, it is necessary to apply a precision medicine approach to determine the mutation responsible for the disease and the effect of NMD on this mutation, and this is precisely where NMDetective comes into play.

    We also studied the role of NMD in cancer and the interaction between the tumour and the immune system. Remarkably, there is robust genomic evidence that NMD activity is important for the prediction of success of immunotherapy in cancer, because NMD hides mutations that would otherwise trigger the immune system. Therefore, NMDetective can be used to analyse the mutations present in the tumour, in order to better distinguish between cancer patients that respond to immunotherapy from those who do not respond to immunotherapy.

  • Powering the Internet of Things Revolution with Heat (2019)

    Tarancón Rubio, Albert (IREC)

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    The Internet of Things (IoT) has been identified as one of the five technologies that will change the world with billions of devices to be installed in the next decades. The massive deployment of miniaturized wireless sensor nodes will revolutionize the way we understand complex systems and our interaction with reality, which will bring new perspectives to the human progress. But how exactly this revolution will be powered remains an open question. Primary batteries currently represents the only practical solution existing for powering autonomous embedded systems but their intrinsic limitations to miniaturization and well-known environmental downsides if spread without adequate disposal, make them a short-term solution. Alternatively, self-powered integrated systems able to harvest energy present in the ambient- that is, waste heat- keep the advantages of batteries (low cost, easy installation, topological flexibility, suitability for movable parts, etc) while overcoming their major issues (long lasting, potentially biodegradable, maintenance free, etc). 

    One of the limiting factors in the development of micro power sources able to generate electricity from thermal gradients has been the inherent incompatibility of good thermoelectric materials such as bismuth and lead tellurides with silicon microfabrication technologies. However, ten years ago enhanced thermoelectric properties of silicon nanostructures were reported opening the door to the development of such micro thermoelectrical generators. In 2012, our team was the first implementing silicon nanowires in an efficient device. This year, we were able to reach values of power in the range of the IoT applications by using silicon-germanium alloys. This remarkable achievement should be considered as a first step for stimulating further work on the development of novel energy autonomous microsystems. Fabricating these new harvesters at low cost in batch mode will represent the last step for the desired IoT revolution also encouraging research towards powering any kind of autonomous and intelligent system like, why not, an autonomous thermal brain.

  • A new tool to play with interfaces for energy and information technologies (2019)

    Tarancón Rubio, Albert (IREC)

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    Interfaces and surfaces are the site where the action happens, especially in the field of energy where catalytic reactions, adsorption of molecules, fast movement of charges or many other relevant phenomena take place in the limit between two different media or hetereogeneities of the same. 

    The unique features of interfaces made them rich in unprecedented phenomena ocurring. These new phenomena happening at interfaces are prevailing in the so-called interface-dominated materials such as nanostructures, where the boundaries are maximized compared to the volume. This novel class of materials are the object of study for new emerging disciplines like Nanoionics or Iontronics, in relation to ions, being the main source of breakthrough concepts to impulse new technologies that meet today's challenges. 

    We recently discovered a completely new strategy for engineering charge transport phenomena at the interface level by controlling the local non-stoichiometry of the compound. This new tool allows radically changing the nature of the charge transport of a material only by playing with its interfaces. A couple of works published in Advanced Materials (cover image) and APL Materials were released this year presenting this approach applied to manganites, which are extremely relevant materials for a collection of devices in the field of energy and information technologies. 

  • On the Mechanism of Genetic Inheritance Associated with the X Chromosome (2019)

    Tartaglia, Gian Gaetano (CRG)

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    The determination of sex in mammals, and therefore in humans, is defined by the presence of sexual chromosomes: males carry a heteromorphic pair of chromosomes (XY) and females have two identical chromosomes (XX). A specific biological process called inactivation of the X chromosome involves the loss of function of one of the two chromosomes of the females: in this way the quantity of the inherited genes is balanced, avoiding the overexpression of their products (proteins) and the consequent onset of genetic anomalies like the triple X syndrome, also known as trisomy X.

    We analyzed the process of inactivation of the X chromosome and in particular the role of the RNA molecule called Xist (X-Inactive-Specific-Transcript), its main regulator.

    We studied the mechanism of action, structure and interactions of the Xist molecule. We observed that Xist acts as a "scaffold", it provides scaffolding and at the same time attracts lots of proteins to organize the "silencing" of the X chromosome. The interaction network is so great that Xist and its partners proteins form a structure that resembles a corpuscle, conceptually similar to a drop of oil in water.

     

  • RNA structure drives proteins crazy (2019)

    Tartaglia, Gian Gaetano (CRG)

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    Messenger RNA (mRNA) is a molecule composed of nucleic acids that transfers the genetic information contained in DNA to produce the proteins that ensure the correct biological operation of every type of cell.  

    We found that messenger RNA could act as a solubilizer, blocking the formation of protein aggregates that are potentially toxic to our organisms.  In particular, we observed that the transcript conding for Heat Shock Protein 70 (HSP70) interacts with many proteins and has a strong effect on protein aggregation.

    We experimentally demonstrated for the first time that, under conditions of stress, HSP70 mRNA has the ability to promote the removal of the protein aggregates that are responsible for serious neuro-degenerative diseases such as Alzheimer’s and Amyotrophic Lateral Sclerosis.

  • Mysterious synchronised pulses of radiation detected from a pulsar for the first time (2019)

    Torres, Diego F. (CSIC - ICE)

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    Pulsars are highly magnetised, fast spinning neutron stars – the relics of massive stars. They are very dense objects, comprising up to two times the mass of the Sun within a radius of only ten km.

    The discovery was made as part of a two-day observation campaign with X-ray satellites and optical telescopes from Earth. This combination allowed the international team to measure with very high temporal resolution the two types of radiation coming from the pulsar.

    The pulsar analysed in this study, J1023+0038, spins around its axis within a few thousandths of a second. Such pulsars are classed as millisecond pulsars, some of which are also sucking in matter from a companion star.
     
    Earlier studies had shown that this pulsar belongs to the rare category of so-called ‘transitional millisecond pulsars’ that switch between two different modes of emissions – in X-rays and radio waves.
     
    The latest data show that the optical pulses in J1023+0038 appear and disappear at exactly the same time as the X-ray ones.
     
    Until now, we thought that the pulsed X-ray emissions originated in a different process than the optical radiation: the accretion of matter from the companion star gives rise to the pulsed X-ray emissions, while the radio signal is thought to result from the rotation of the pulsar’s magnetic field.

    We also expected these processes to take place one after the other, but the synchronised pulses are an indication that they have the same origin.

    To explain this behavior this work develops a new idea: the pulsar's strong electromagnetic wind interacts with the accretion disc around the system at a very close distance from the pulsar, giving rise to the concept of mini pulsar wind nebula.

    This transitional pulsar is one of the most interesting sources we know. Its multi-frequency variability is incredibly rich, and allows us to study the relationship between the magnetic field and matter in extreme conditions.

    [*] Text based on ESA, XMM, CSIC, INAF, IEEC and other press releases on this topic, echoed in different media and news outlets around the world.

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