Large-scale molecular analysis of hereditary hearing loss genes in argentinean deaf patients: lookingfora needle in a haystack

Hereditary Hearing Loss (HHL) is a common trait affecting 1 in 2000 new born children. The presence of over 100 different genes involved in HHL, lead us to go on board with Whole Exome Sequencing (WES) in order to search for the causative mutations.The main objective of this project was to diagnose Argentinean deaf families and discover novel mutations or new genes involved in pathology.We designed a flowchart to exclude all the spurious variations obtained and target for few candidates. To approach this, we filtered results, and candidate variations were segregated throughout family members. Variations positively selected, were analyzed using bioinformatic predictors and tracked in public databases. Additionally, conservation studies, structure and functional domain analysis in proteins, and in-vivo studies were performed.Using this strategy we analysed 15 WES results. We identified 16 causative mutations in 12 families with syndromic and non-syndromic hearing loss (11 missense, 4 frameshift and 1 splicing site mutations). Six were novel and functional studies of some of the identified mutations, using Zebra fish models, are under way. In the remaining 3 families, variables of uncertain significance were detected (Vous).To our knowledge this is the first study using WES to diagnose deaf patients in Argentina. We show in the present study that our flowchart is advantageous and noteworthy for large-scale molecular analysis in deaf patients. These findings clearly highlight the importance of genetic studies followed by in-sílico and in-vivo validation to better understand the genetic basis of Hereditary Hearing loss.Fil: Buonfiglio, Paula Inés. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; ArgentinaFil: Bruque, Carlos David. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; ArgentinaFil: Lotersztein, Vanesa. Ministerio de Defensa. Ejército Argentino. Hospital Militar Central Cirujano Mayor "Dr. Cosme Argerich"; ArgentinaFil: Goldschmidt, E.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Juan A. Fernández"; ArgentinaFil: Elgoyhen, Ana Belen. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; ArgentinaFil: Dalamon, Viviana Karina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina51st European Society of Human Genetics ConferenceMilanItaliaEuropean Society of Human Genetic

Promoting FAIRness in marine data at Centro Nacional Instituto Español de Oceanografía

The Spanish Institute of Oceanography is responsible, among other aspects, for scienti c and technical advice for the Government's sheries policy as well as for the protection and sustainability of the marine environment. In this task, it generates a large amount of oceanographic data characterized by its spatial dispersion during acquisition as well as by its di erent typology. The purpose of both the National Oceanographic Data Center and the GIS team is to safeguard data and to disclose what data exists and where, how and when it has been acquired and, in addition, to provide access to that data through the collaboration with di erent international data infrastructures like EMODnet or SeaDataNet. To this end, the data and metadata are subjected to quality control and formatted for integration into a national Spatial Data Infrastructure (SDI). This SDI has a GeoNetwork catalogue with ~ 1750 oceanographic campaigns, together with (meta)data and services that are continuously being revised and incorporated. All this with the ultimate goal of making the data increasingly FAIR

From chemosynthesis-based communities to cold-water corals: Vulnerable deep-sea habitats of the Gulf of Cádiz

The Gulf of Cádiz (GoC) represents an area of ecological importance within the northeastern Atlantic Ocean due to the presence of Mediterranean and Atlantic water masses, a heterogeneous seafloor and a biological confluence. Nevertheless, information on the presence of vulnerable deep-sea habitats is still very scarce and it is of importance for further habitat monitoring within the context of the Habitats and Marine Strategy Framework Directives and for improving conservation and resource extraction management. From 2010 to 2012, fluid migration and emission related edifices (e.g., mud volcanoes, diapirs) from the Spanish continental margin of the GoC have been explored using a remotely operated vehicle (ROV; Liropus 2000) and an underwater camera sled (UCS; APHIA 2012) as well as several devices for collecting sediment and fauna. Different vulnerable deep-sea habitats have been observed, including anoxic bottoms with bacterial mats, sea-pen communities, sponge aggregations, antipatharian and gorgonian communities and also cold-water coral banks. Some of these habitats are included in conservation lists of the habitat directive and in international conventions (OSPAR, RAC/SPA), however some of them are located in areas of the GoC that are exposed to intense trawling. The diversity of habitats detected in the Spanish continental margin of the GoC highlights the importance of seepage related edifices as inducers of seabed and habitat heterogeneity in deep-sea areas.En prens

Underwater imagery-study of sediment and fauna for habitat characterization in mud volcanoes of the Spanish margin (Gulf of Cádiz)

Habitat characterization using underwater images has been carried out in 4 mud volcanoes (Gazul, Almazán, St. Petersburg and Aveiro) and one mud volcano/diapir complex (Hespérides) located at the middle slope of the Spanish margin of the Gulf of Cádiz (360-1200m depth). A total of 126 species, mostly cnidarians, sponges, brachiopods, crustaceans and echinoderms and 19 habitats have been observed in the underwater images, including anoxic bottoms with cold seep fauna or remains (Siboglinum sp., Lucinoma asapheus, Solemya elarraichensis), bottoms with authigenic carbonates colonized by gorgonians and anthipatharians, extensive muddy bottoms with sea pens (Kophobelemnon sp., Protoptilum sp.) and bamboo corals (Isidella elongata) and cold-water coral banks (Madrepora oculata). Habitat type and distribution seem influenced by sedimentary features, presence of hard substrates with authigenic carbonates, seepage activity, depth and hydrodynamic conditions. Cold seep related species and heterotrophic species not directly linked to fluid venting represent seepage activity indicators and induce habitat and biodiversity differentiation among the fluid venting edifices

Spatial assessment of trawling activity in a shallow mud volcano field of the Gulf of Cádiz

The Gulf of Cadiz display a wide continental shelf at its northwestern part with a complex oceanographic circulation, large extensions with soft bottoms, diapiric ridges, mud volcanoes, channels, that promote geological and biological heterogeneity and also a wide variety of commercial resources that are exploited by an important fishing sector. Fisheries activity in this area has been studied using VMS and logbooks data during 2011. Fishing effort and captures maps for some important species (Nephrops norvegicus and Parapenaeus longirostris) have been developed for different areas which may be able to improve the spatial and quantitative information on fisheries, and implement measures to improve ecosystem management and conservation of the different vulnerable habitats of the Gulf of CadizVersión del edito

Database of spatial distribution of non indigenous species in Spanish marine waters

Research in marine Spanish waters are focused on several actions to achieve an effectively management on protected areas, with the active participation of the stakeholders and research as basic tools for decision-making. Among these actions, there is one about the knowledge and control on NIS. One of its objectives is the creation of NIS factsheets, which are going to be added to the National Marine Biodiversity Geographical System (GIS) providing complementary information about taxonomic classification, common names, taxonomic synonyms, species illustrations, identification morphological characters, habitat in the native and introduced regions, biological and ecological traits, GenBank DNA sequences, world distribution, first record and evolution in the introduced areas, likely pathways of introduction, effects in the habitats and interaction with native species, and potential management measures to apply. The database will also provide data for (1) the European online platforms, (2) the environmental assessment for the Descriptor 2 (D2-NIS) of the EU Marine Strategy Framework Directive (MSFD), as well as (3) supporting decisions made by stakeholders. It is the result of extensive collaboration among scientist, manager’s and citizen science in the Spanish North-Atlantic, South-Atlantic, Gibraltar Strait-Alboran, Levantine-Balearic and Canary Islands marine divisions, providing an updated overview of the spatial distribution of relevant extended and invasive NIS of recent and established NIS introduced by maritime transport and aquaculture pathways, as well as on cryptogenic or native species in expansion due to the climatic water warming trend

Environmental, fishing and benthic linkage in the mud volcano field of the Spanish margin of the Gulf of Cádiz

The Gulf of Cadiz is located in the boundary of two lithospheric plates, this tectonic activity promote fluid rich hydrocarbon emissions from subsurface reservoirs and the formation of several mud volcanoes. The seabed and sedimentological heterogeneity, the complex oceanographic circulation, and the low fishing activity in certain areas may promote high biodiversity and complex habitats (habitat 1170 and 1180, Natura 2000). Environmental variables (fishing activity, substrate types, near bottom currents) and fauna collected with beam-trawl have been compared for several mud volcanoes and adjacent bottoms in order to understand the spatial distribution of both habitats and environmental/anthropogenic variables. The faunistic samples yielded high abundances, biomass and species richness in Gazul, Pipoca and Chica but low ones in Anastasya. In relation to environmental variables and fisheries activity, there is a strong correlation with the substrate type, depth, salinity and near-bottom current as primary variables influencing the distribution of habitats of different mud volcanoes. In this context, high species richness, abundance and biomass was found in areas with authigenic carbonates, coarse sediments, high near-bottom current speed, low salinities and low fishing activity.Versión del edito

Methods to study microbial adhesion on abiotic surfaces

Microbial biofilms are a matrix of cells and exopolymeric substances attached to a wet and solid surface and are commonly associated to several problems, such as biofouling and corrosion in industries and infectious diseases in urinary catheters and prosthesis. However, these cells may have several benefits in distinct applications, such as wastewater treatment processes, microbial fuel cells for energy production and biosensors. As microbial adhesion is a key step on biofilm formation, it is very important to understand and characterize microbial adhesion to a surface. This study presents an overview of predictive and experimental methods used for the study of bacterial adhesion. Evaluation of surface physicochemical properties have a limited capacity in describing the complex adhesion process. Regarding the experimental methods, there is no standard method or platform available for the study of microbial adhesion and a wide variety of methods, such as colony forming units counting and microscopy techniques, can be applied for quantification and characterization of the adhesion process.This work was financially supported by: Project UID/EQU/00511/2013-LEPABE, by the FCT/MEC with national funds and co-funded by FEDER in the scope of the P2020 Partnership Agreement; Project NORTE-07-0124-FEDER-000025 - RL2_Environment&Health, by FEDER funds through Programa Operacional Factores de Competitividade-COMPETE, by the Programa Operacional do Norte (ON2) program and by national funds through FCT - Fundacao para a Ciencia e a Tecnologia; European Research Project SusClean (Contract number FP7-KBBE-2011-5, project number: 287514), Scholarships SFRH/BD/52624/2014, SFRH/BD/88799/2012 and SFRH/BD/103810/2014