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  the most outstanding publications of the year 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

  • Ocean acidification and mussels; the role of genetics (2022)

    Pelejero Bou, Carles (CSIC - ICM)

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    Ocean acidification and mussels; the role of genetics

    In addition to causing global warming, anthropogenic emissions of CO2 are altering the chemistry of Earth's oceans, turning them more acidic. This change is particularly harmful to calcifying marine invertebrates, such as corals and bivalves, challenging the formation of their shells and skeletons. For many marine invertebrates, and particularly for mollusks, the larval stages are the most sensitive to the changes in seawater carbonate chemistry associated with ocean acidification. These changes induce compounding impacts on the early development of marine mussels. Briefly, exposure to projected declines in seawater pH leads to delayed development and both smaller and abnormal-shaped shells in D-veliger larvae (Fig. 1). The abnormal shape is driven by an abnormal development of the underlying soft tissue, the shell field, caused by low pH conditions during the preceding trochophore stage (Fig. 1, 2). To better understand the genetics of pH sensitivity in larval development and the potential for marine mussels to evolve and overcome ocean acidification stress, we used RNA and DNA sequencing, combined with in situ RNA hybridization, to identify genes associated with the abnormal development of the shell field in trochophores of Mytilus galloprovincialis mussels exposed to low pH conditions. We also explored whether those genes harbor genetic variation that could drive rapid adaptation to ocean acidification. We reported, for the first time, a new set of pH-responsive genes associated with the development of the shell field and, secondarily, with the cellular stress response. Remarkably, five genes encompassing both these pathways exhibited large changes in allele frequencies in a genetically diverse larval population exposed to low pH conditions. Thus, while shell field development is highly sensitive to seawater pH, we found that the genes associated with that sensitivity exhibit sufficient genetic variation to support survival of the population under these otherwise stressful pH exposures. These results reinforce the notion that protecting species’ natural genetic diversity is crucial to increasing marine ecosystem resilience in the face of global change.

  • Identifying cellular cancer mechanisms through pathway-driven data integration (2022)

    Przulj, Natasa (BSC-CNS)

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    Identifying cellular cancer mechanisms through pathway-driven data integration

    Cancer is a genetic disease in which accumulated mutations of driver genes induce a functional reorganization of the cell by reprogramming cellular pathways. Current approaches identify cancer pathways as those most internally perturbed by gene expression changes. However, driver genes characteristically perform hub roles between pathways. We show that cancer pathways should be identified by changes in their pathway–pathway relationships.

  • How can we localise molecules on a surface with 2D and 3D control? (2022)

    Puigmartí Luis, Josep (UB)

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    How can we localise molecules on a surface with 2D and 3D control?

    Control over the functionalization of graphenic materials is key to enable their full application in electronic and optical technologies. Covalent functionalization strategies have been proposed as an approach to tailor the interfaces’ structure and properties. However, to date, none of the proposed methods allow for a covalent functionalization with control over the grafting density, layer thickness and/or morphology, which are key aspects for fine-tuning the processability and performance of graphenic materials. Here, we show that the no-slip boundary condition at the walls of a continuous flow microfluidic device offers a way to generate controlled chemical gradients onto a graphenic material with 2D and 3D control, a possibility that will allow the sophisticated functionalization of these technologically-relevant materials.

  • A Novel Computational Algorithm for diagnosis and gene discovery  (2022)

    Pujol Onofre, Aurora (IDIBELL)

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    A Novel Computational Algorithm for diagnosis and gene discovery 

    Brain white matter disorders or leukodystrophies are rare genetic conditions that are usually incurable, severe disabling diseases leading to death in infancy in most cases. The genetic causes of are widespread, with over 100 causal genes identified to date. Classic approaches targeting the most prevalent culprits achieve a molecular diagnosis in only half of all patients. The rest remains undiagnosed, with families searching for answers in “Diagnostic Odysseys” of 10 years or longer. To help these patients’ communities, we developed a computational algorithm that explores the genomic sequences of each case (obtained by whole-exome or genome sequencing), combined with its clinical features, to build interactome networks with knowledge obtained from public available databases. The pipeline ranks the rare variants found in each patient using a metric derived from an interactome of known genes causing similar disorders, which is expanded to novel genes that associate with the first network.

    We applied the algorithm to our cohort of 126 undiagnosed patients from 11 tertiary hospitals across Spain, and solved an unprecedented 72% of cases, improving by 30% the average international diagnostic rate for these diseases.Thanks to the algorithm, we discovered 9 novel genes not previously known to cause leukodystrophies, providing answers to hundreds of families and clinicians worldwide.  At the same time, these findings allowed to gain fundamental scientific progress on mechanisms that are pivotal for brain development and maintenance, like in the cases of the novel recessive syndromes caused by malfunction of DEGS1, PI4KA or SLC35B2.

    Importantly, our strategy enables the highest diagnostic yield with the lowest cost in time and resources for the health care system, and can be extended to other genetic disorders. A precise diagnosis is the first step for families to access optimal genetic counselling and clinical management, which leads in some cases to timely approved or experimental treatments, or provides an open avenue for searching a cure.

    Work broadcasted in "El Cazador de Cerebros: Enfermedades Raras" TV2, May 9th 2022 and national press

  • Recognizing Indigenous peoples’ and local communities’ rights and agency is critical to the success of global biodiversity policy (2022)

    Reyes García, Victoria (UAB)

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    Recognizing Indigenous peoples’ and local communities’ rights and agency is critical to the success of global biodiversity policy

    This work appeared while the Convention on Biological Diversity was working to formulate the post-2020 Global Biodiversity Framework, aiming to galvanize transformative action to halt biodiversity loss at the global level. In this paper, we signaled that, to be successful, the post-2020 Global Biodiversity Framework of the Convention on Biological Diversity should fully embrace and embody Indigenous Peoples’ and local communities’ rights and agency in biodiversity management. Based on in-depth review of literature, the study, signed by 21 scientists from all over the world, presents four arguments why foregrounding Indigenous Peoples’ and local communities rights and agency is essential to the success of future biodiversity policy. First, Indigenous peoples and local communities hold knowledge essential for setting realistic and effective biodiversity targets that simultaneously improve local livelihoods. Second, Indigenous peoples’ conceptualizations of nature sustain and manifest CBD’s 2050 vision of “Living in harmony with nature.” Third, Indigenous peoples’ and local communities’ participation in biodiversity policy contributes to the recognition of human and Indigenous peoples’ rights. And fourth, engagement in biodiversity policy is essential for Indigenous peoples and local communities to be able to exercise their recognized rights to territories and resources. Indigenous Peoples’ and local communities’ participation in biodiversity policy contribute to recognize and uphold human rights, and call on the Convention on Biological Diversity to fully recognize Indigenous Peoples’ and local communities not only as stakeholders, but also as rights and knowledge-holders.

  • 2D materials for a major leap forward in non-volatile memory technologies (2022)

    Roche, Stephan (ICN2)
    Valenzuela, Sergio O. (ICN2)

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    2D materials for a major leap forward in non-volatile memory technologies

    Non-volatile memories –which can retain information even when power is removed— are largely employed in computers, tablets, pen drives and many other electronic devices. Among the various existing technologies, magnetoresistive random-access memories (MRAM), currently used only in specific applications, are expected to expand considerably on the market in the decade to come. The newest MRAMs based on spintronic mechanisms can offer faster operations, lower power consumption and long retention time, with potential applications in wearable devices, automotive industry, and the Internet of Things, among others.

    In this context, graphene and other 2D materials, which are as thin as one or very few atomic layers, may play a disruptive role. In fact, their peculiar and remarkable characteristics can provide efficient solutions to current technological challenges and performance limitations that prevent massive commercial deployment of MRAMs; therefore, 2D materials can have a strong impact on the design of next-generation spintronic devices.

    Together with an international consortium of key players in the field, including industries such as SAMSUNG, GLOBAL FOUNDRIES and THALES, we have overviewed the extraordinary opportunities provided by two-dimensional (2D) materials for the development of next-generation non-volatile memories, based on spintronic mechanisms. the fundamental properties of 2D materials such as atomically smooth interfaces, reduced material intermixing, crystal symmetries, and proximity effects have been discussed as the drivers for possible disruptive improvements for spin based MRAMs. These are emerging as key enabling low-power technologies and are expected to spread over large markets from embedded memories, low-power-consumption, and high-capability memories to the Internet of Things devices.

    This is a reference paper, clarifying the true advantage of graphene and 2D materials for novel technologies, and pointing out for the decade to come the milestones to be accomplished for an eventual integration into real commercial products.

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