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Background: Large-scale international collaboration is essential to decipher relevant information in the context of omics-scale interrogations in cancer research. This is even more important for rare and fatal diseases like pancreas cancer (PC). Methods: The COST Action BM1204 is a unique platform to facilitate the collaboration of a broad range of European and international PC multidisciplinary research groups in order to: (1) integrate knowledge and experience in a multidisciplinary way ‘from cell to society', (2) promote the application of uniform study tools and protocols, (3) foster their optimal use by early-stage researchers, (4) enhance the mobility and training of researchers, and (5) disseminate the results produced to the broader society. Results: This Action will develop novel interdisciplinary tools for collaborative research to improve our understanding of PC and its prevention, diagnosis and treatment. It also aims to answer questions related to the etiology, early detection, evidence-based and personalized treatment, and health management for PC. Furthermore, the Action will contribute to new insights into PC personalized medicine and beyond as well as to the understanding of complex and rare diseases taking PC as a best practice example. The Action aims at attracting young scholars across a range of disciplines in collaboration with more experienced researchers and enhancing active European participation in the international scenario of PC research. Conclusion: The ultimate aim is to foster PC research in Europe and to coordinate this effort with other international initiatives to reduce disease mortality.

Curs 2014-2015, Un dels esdeveniments inqüestionablement més populars del 2014 ha estat la celebració d’un referèndum a Escòcia. El motiu: la voluntat popular d’esdevenir independent respecte del Regne Unit. La relació de Catalunya envers Espanya ha provocat una situació similar. Paradoxalment, el desenvolupament dels dos procediments ha estat diferent i controvertit. Aquests afers, polítics, legals i legítims, han generat documents com ara el llibre blanc, redactat pel govern com a full de ruta a seguir. Aquest treball pretén aprofundir en els fonaments legals de l’aparició del llibre blanc i persegueix fer-ne un petit estudi comparatiu. A més, aprofitarem aquesta contrastiva per traduir part del llibre blanc d’Escòcia, concretament, la referent a l’economia. D’aquesta manera, crearem un text meta en català força similar al text de partida en anglès. Per fer-ho, cercarem equivalències en documents paral·lels i incidirem en el missatge i les convencions de la llengua. Utilitzarem, també, els processos traductològics apresos durant el grau. La documentació, l’anàlisi de l’estructura i la creació d’una terminologia específica generaran unes fitxes terminològiques entorn de l’àmbit econòmic i financer. La utilització de tots els recursos tecnològics i físics seran claus per a l’elaboració i defensa finals d’aquest treball., Unquestionably, one of the most popular events in 2014 was the referendum held in Scotland. The reason: the willing to become independent from the United Kingdom. The bond of Catalonia towards Spain has caused a similar situation. Paradoxically, the development of both procedures has been different and controversial. The political, legal and legitimate affairs have generated documents such as the white paper, written by the government as a roadmap to follow. The following paper aims to seek for the legal basis of the white paper emergence and pursuits to be a comparative study. Besides, we’ll take advantage of upon mentioned to translate part of the Scotland’s white paper, specifically the one referring to economy. This will create a target text in Catalan similar to the source text in English. To do so, we’ll look up equivalents in parallel documents and we’ll insist in the message and conventions of the language. The translating methods learned in the degree will also be part of the process. The documentation, the analysis of the structure and the creation of a specific terminology, will allow us to file a terminology associated to both economic and financial fields. Technological and physical resources will be crucial for the preparation and defence of this final paper.

© 2015 Nature America, Inc. All rights reserved. Genome-wide association studies (GWAS) of psychiatric disorders have identified multiple genetic associations with such disorders, but better methods are needed to derive the underlying biological mechanisms that these signals indicate. We sought to identify biological pathways in GWAS data from over 60,000 participants from the Psychiatric Genomics Consortium. We developed an analysis framework to rank pathways that requires only summary statistics. We combined this score across disorders to find common pathways across three adult psychiatric disorders: schizophrenia, major depression and bipolar disorder. Histone methylation processes showed the strongest association, and we also found statistically significant evidence for associations with multiple immune and neuronal signaling pathways and with the postsynaptic density. Our study indicates that risk variants for psychiatric disorders aggregate in particular biological pathways and that these pathways are frequently shared between disorders. Our results confirm known mechanisms and suggest several novel insights into the etiology of psychiatric disorders.

The quest for the ecological niches ofSaccharomyces cerevisiaeranged from wineries to oaks and more recently to the gut of Crabro Wasps. Here we propose the role of the human gut in shapingS. cerevisiaeevolution, presenting the genetic structure of a previously unknown population of yeasts, associated with Crohn?s disease, providing evidence for clonal expansion within human?s gut. To understand the role of immune function in the human-yeast interaction we classified strains according to their immunomodulatory properties, discovering a set of genetically homogeneous isolates, capable of inducing anti-inflammatory signals via regulatory T cells proliferation, and on the contrary, a positive association between strain mosaicism and ability to elicit inflammatory, IL-17 driven, immune responses. The approach integrating genomics with immune phenotyping showed selection on genes involved in sporulation and cell wall remodeling as central for the evolution ofS. cerevisiaeCrohn?s strains from passengers to commensals to potential pathogens.

Attention-deficit and hyperactivity disorder (ADHD) is a common psychiatric disorder with a worldwide prevalence of 5-6% in children and 4.4% in adults. Recently, copy number variations (CNVs) have been implicated in different neurodevelopmental disorders such as ADHD. Based on these previous reports that focused on pediatric cohorts, we hypothesize that structural variants may also contribute to adult ADHD and that such genomic variation may be enriched for CNVs previously identified in children with ADHD. To address this issue, we performed for the first time a whole-genome CNV study on 400 adults with ADHD and 526 screened controls. In agreement with recent reports in children with ADHD or in other psychiatric disorders, we identified a significant excess of insertions in ADHD patients compared to controls. The overall rate of CNVs >100 kb was 1.33 times higher in ADHD subjects than in controls (p = 2.4e-03), an observation mainly driven by a higher proportion of small events (from 100 kb to 500 kb; 1.35-fold; p = 1.3e-03). These differences remained significant when we considered CNVs that overlap genes or when structural variants spanning candidate genes for psychiatric disorders were evaluated, with duplications showing the greatest difference (1.41-fold, p = 0.024 and 2.85-fold, p = 8.5e-03, respectively). However, no significant enrichment was detected in our ADHD cohort for childhood ADHD-associated CNVs, CNVs previously identified in at least one ADHD patient or CNVs previously implicated in autism or schizophrenia. In conclusion, our study provides tentative evidence for a higher rate of CNVs in adults with ADHD compared to controls and contributes to the growing list of structural variants potentially involved in the etiology of the disease.

Background: The ubiquitin-dependent protein degradation pathway is essential for the proteolysis of intracellular proteins and peptides. Deubiquitinating enzymes constitute a complex protein family involved in a multitude of cellular processes. The ubiquitin-specific proteases (UBP) are a group of enzymes whose predicted function is to reverse the ubiquitinating reaction by removing ubiquitin from a large variety of substrates. We have lately reported the characterization of human USP25, a specific-ubiquitin protease gene at 21q11.2, with a specific pattern of expression in murine fetal brains and adult testis. Results: Database homology searches at the DNA and protein levels and cDNA library screenings led to the identification of a new UBP member in the human genome, named USP28, at 11q23. This novel gene showed preferential expression in heart and muscle. Moreover, cDNA, expressed sequence tag and RT-PCR analyses provided evidence for alternatively spliced products and tissue-specific isoforms. Concerning function, USP25 overexpression in Down syndrome fetal brains was shown by real-time PCR. Conclusions: On the basis of the genomic and protein sequence as well as the functional data, USP28 and USP25 establish a new subfamily of deubiquitinating enzymes. Both genes have alternatively spliced exons that could generate protein isoforms with distinct tissue-specific activity. The overexpression of USP25 in Down syndrome fetal brains supports the gene-dosage effects suggested for other UBP members related to aneuploidy syndromes.