Isolation of genetic mutation leading to abnormal phenotype in human through ultra-high-throughput sequencing (UHTS)

The introduction of Next Generation Sequencing (NGS) facilitated the task of localizing DNA variation and identifying the genetic cause of yet unsolved Mendelian disorders. Using Whole Exome Capture method and NGS, we identified the causative genetic aberration responsible for a number of monogenic disorders previously undetermined. Due to the novelty of the NGS method we benchmarked different algorithms to assess their merits and defects. This allowed us to establish a pipeline that we successfully used to pinpoint genes responsible for a form of West's syndrome, a Complex Intellectual Disability syndrome associated with patellar dislocation and celiac disease, and correcting some erroneous molecular diagnosis of Alport's syndrome in a Saudi Arabian family.

From genomes to vaccines via the proteome

An effective vaccine against schistosomiasis mansoni would be a valuable control tool and the high levels of protection elicited in rodents and primates by radiation-attenuated cercariae provide proof of principle. A major obstacle to vaccine development is the difficulty of identifying the antigens that mediate protection, not least because of the size of the genome at 280Mb DNA encoding 14,000 to 20,000 genes. The technologies collectively called proteomics, including 2D electrophoresis, liquid chromatography and mass spectrometry, now permit any protein to be identified provided there is extensive DNA data, and preferably a genome sequence. Applied to soluble (cytosolic) proteins from schistosomes, proteomics reveals the great similarity in composition between life cycle stages, with several WHO vaccine candidates amongst the most abundant constituents. The proteomic approach has been successfully applied to identify the secretions used by cercaria to penetrate host skin, the gut secretions of adult worms and the proteins exposed on the tegument surface. Soluble proteins can also be separated by 2D electrophoresis before western blotting to identify the full range of antigenic targets present in a parasite preparation. The next step is to discover which target proteins represent the weak points in the worm's defences.

Disseny i implementació d'un esquema criptogràfic d'enquesta electrònica remota

Amb aquest projecte es vol proposar un esquema criptogràfic que permeti realitzar una enquesta de forma electrònica. La solució es basa en criptografia de clau pública, que en la actualitat es fa servir de manera habitual tant en el comerç electrònic com en altres aplicacions criptogràfiques.

Schistosome vaccines: a critical appraisal

An effective schistosome vaccine is a desirable control tool but progress towards that goal has been slow. Protective immunity has been difficult to demonstrate in humans, particularly children, so no routes to a vaccine have emerged from that source. The concept of concomitant immunity appeared to offer a paradigm for a vaccine operating against incoming larvae in the skin but did not yield the expected dividends. The mining of crude parasite extracts, the use of monoclonal antibodies and protein selection based on immunogenicity produced a panel of vaccine candidates, mostly of cytoplasmic origin. However, none of these performed well in independent rodent trials, but glutathione-S-transferease from Schistosoma haematobium is currently undergoing clinical trials as an anti-fecundity vaccine. The sequencing of the S. mansoni transcriptome and genome and the development of proteomic and microarray technologies has dramatically improved the possibilities for identifying novel vaccine candidates, particularly proteins secreted from or exposed at the surface of schistosomula and adult worms. These discoveries are leading to a new round of protein expression and protection experiments that will enable us to evaluate systematically all the major targets available for immune intervention. Only then will we know if schistosomes have an Achilles' heel.

Eina d'anàlisi de rendiment d'unaxarxa

Detecció del tipus de protocols que tenim en la nostra xarxa per així poder fer un anàlisis i estudiar les possiblesanomalies que pugui patir la xarxa.

Proteomic analysis of the shistosome tegument and its surface membranes

The tegument surface of the adult schistosome, bounded by a normal plasma membrane overlain by a secreted membranocalyx, holds the key to understanding how schistosomes evade host immune responses. Recent advances in mass spectrometry (MS), and the sequencing of the Schistosoma mansoni transcriptome/genome, have facilitated schistosome proteomics. We detached the tegument from the worm body and enriched its surface membranes by differential extraction, before subjecting the preparation to liquid chromatography-based proteomics to identify its constituents. The most exposed proteins on live worms were labelled with impearmeant biotinylation reagents, and we also developed methods to isolate the membranocalyx for analysis. We identified transporters for sugars, amino acids, inorganic ions and water, which confirm the importance of the tegument plasma membrane in nutrient acquisition and solute balance. Enzymes, including phosphohydrolases, esterases and carbonic anhydrase were located with their catalytic domains external to the plasma membrane, while five tetraspanins, annexin and dysferlin were implicated in membrane architecture. In contrast, few parasite proteins could be assigned to the membranocalyx but mouse immune response proteins, including three immunoglobulins and two complement factors, were detected, plus host membrane proteins such as CD44, integrin and a complement regulatory protein, testifying to the acquisitive properties of the secreted bilayer.

mpiGL : un projecte d'utilització del programari lliure en la visualització gràfica en xarxes de càlcul científic

S'analitzen les problemàtiques relacionades amb la presentació d'informació gràfica en temps real durant un càlcul paral·lel o col·laboratiu en un entorn distribuït, i es fa una proposta de toolkit obert que estén el llenguatge OpenGL per la seva resolució.

Anàlisi de la influència dels canvis en els paleoclimes sobre la introducció i evolució del budisme en els països de l'Àsia oriental

S'examinen les possibles influències del canvi climàtic en l'extensió del budisme als països de l'extrem est asiàtic (Corea, Japó), a través de com varen condicionar les condicions de viatge i l'establiment de rutes de comerç entre els diferents països.

2010 Horizon Report: Iberoamerican Edition

The series of Horizon Reports is the most tangible outcome of the New Media Consortium's Horizon Project, a qualitative research endeavour launched in 2002 which identifies and describes the emergingtechnologies with the greatest potential to have an impact on teaching, learning, research and creative expression in the global education field. This volume,the 2010 Horizon Report: Iberoamerican Edition, focuses on research in countries of the iberoamerican region (including the whole of Latin America, Spainand Portugal) and in the field of higher education. The 2010 Horizon Report: Iberoamerican Edition is the first to offer this regional contextualization and hasbeen produced by the NMC and the eLearn Center of the Universitat Oberta de Catalunya (UOC).

Relatório Horizon : edição Ibero-americana 2010

La sèrie d'informes Horizon és el resultat més tangible del Projecte Horizon del New Media Consortium, un esforç de recerca qualitativa iniciat el 2002, que identifica i descriu les tecnologies emergents amb més potencial d'impacte en l'ensenyament, l'aprenentatge, la recerca i la expressió creativa en l'àmbit educatiu global. Aquest volum, l'Informe Horizon 2010: Edició Iberoamericana, se centra en la investigació en els països de la regió Iberoamericana (incloent-hi tota Llatinoamèrica, Espanya i Portugal) i en l'àmbit de l'educació superior. L'Informe Horizon 2010: Edició Iberoamericana és el primer que ofereix aquesta contextualització regional i ha estat produït per l'NMC i el eLearn Center de la Universitat Oberta de Catalunya.

Informe Horizon : edición iberoamericana 2010

La serie de Informes Horizon es el resultado más tangible del Proyecto Horizon del New Media Consortium, un esfuerzo de investigación cualitativa iniciado en 2002, que identifica y describe las tecnologías emergentes con mayor potencial de impacto en la enseñanza, el aprendizaje, la investigación y la expresión creativa en el ámbito educativo global. Este volumen, elInforme Horizon 2010: Edición Iberoamericana, centra la investigación en los países de la región Iberoamericana (incluyendo a toda Latinoamérica, España y Portugal) y en el ámbito de la educación superior. ElInforme Horizon 2010: Edición Iberoamericana es el primero que ofrece esta contextualización regional y ha sido producido por el NMC y el eLearn Center de laUniversitat Oberta de Catalunya.

Informe Horizon : edició iberoamericana 2010

La sèrie d'informes Horizon és el resultat més tangible del Projecte Horizon del New Media Consortium, un esforç de recerca qualitativa iniciat el 2002 que identifica i descriu les tecnologies emergents amb més potencial d'impacte en l'ensenyament, l'aprenentatge, la recerca i la expressió creativa en l'àmbit educatiu global. Aquest volum, l'Informe Horizon 2010: Edició Iberoamericana, se centra en la investigació en els països de la regió Iberoamericana (incloent-hi tota Llatinoamèrica, Espanya i Portugal) i en l'àmbit de l'educació superior. L'Informe Horizon 2010: Edició Iberoamericana és el primer que ofereix aquesta contextualització regional i ha estat produït per l'NMC i el eLearn Center de la Universitat Oberta de Catalunya.

Bat flies on phyllostomid hosts in the Cerrado region: component community, prevalence and intensity of parasitism

Streblidae flies are specialised parasites of bat hosts, mainly phyllostomids. There is a high richness of streblids in the savannah-like Cerrado region; however, there is little quantitative data available in parasitological indices. Here, we describe the component community, prevalence and intensity of a streblid infestation on a phyllostomid bat assemblage in Serra da Bodoquena, a Cerrado region in Southwest Brazil. We conducted surveys by capturing and inspecting bat hosts during the seven-month period between October 2004-December 2005. All the ectoparasites found on the bats were collected in the field and then counted and identified in the laboratory. We captured 327 bats belonging to 13 species, of which eight species were parasitized by 17 species of streblids. Carollia perspicillata and Glossophaga soricina were infested with seven streblid species, whereas the other bat species were infested with four or fewer streblid species. Megistopoda proxima and Aspidoptera falcata flies were found on Sturnira lilium, and Trichobius joblingi was the most prevalent fly on C. perspicillata. Megistopoda aranea and Aspidoptera phyllostomatis were highly prevalent and had a high intensity of infestation on Artibeus planirostris. Overall comparisons of the available data suggest that the component communities of streblids vary more between the Cerrado and Atlantic Forest phytogeographical regions than between localities within the same phytogeographical region.

Distributed fire detector system

Aquest treball pretén elaborar un sistema de detecció d'incendis implementat sota una xarxa de sensors sense fils. Aquesta xarxa està formada per petits dispositius autònoms equipats amb un transmissor de ràdio, un microcontrolador, diferents sensors (temperatura, lluminositat i efecte Hall) i alimentació per bateries (AA).