Unha enxeñeira ou científica en cada cole

Póster presentado na V XORNADA UNIVERSITARIA GALEGA EN XÉNERO. TRANSFORMANDO DENDE A UNIVERSIDADE. Vigo, 7 Xullo 2017Nesta comunicación, presentamos o proxecto Unha enxeñeira ou científica en cada cole organizado pola Oficina de Igualdade de Xénero da Universidade de Santiago de Compostela (USC) en colaboración co Concello de Santiago de Compostela. Esta iniciativa pretende incentivar a presenza de rapazas en carreiras relacionadas coas disciplinas STEM (ciencia, enxeñería, tecnoloxía e matemáticas), mediante actividades didácticas nos centros educativos que rachen cos estereotipos sexistas da nosa sociedade. A actividade didáctica consistiu na realización de dezanove obradoiros, dirixidos a nenas e nenos de 5º ou 6º de primaria e realizados nos meses de setembro e outubro de 2016. Os obradoiros foron impartidos por profesoras ou investigadoras da USC e do Centro de Supercomputación de Galicia (CESGA) para crear referentes femininos e incentivar a presenza de rapazas no ámbito científico tecnolóxico. Ademais, estes obradoiros amosaron a relación da ciencia e da tecnoloxía coa nosa vida cotiá e serviron para achegar ao alumnado a estas disciplinas dun xeito lúdicoConcello de Santiago de Compostel

Whole-genome sequencing reveals host factors underlying critical COVID-19

Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2,3,4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes—including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)—in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease

A first update on mapping the human genetic architecture of COVID-19

peer reviewe

The Iberian lynx Lynx pardinus Conservation Breeding Program

The Iberian Lynx Conservation Breeding Program follows a multidisciplinary approach, integrated within the National Strategy for the Conservation of the Iberian lynx, which is carried out in cooperation with national, regional and international institutions. The main goals of the ex situ conservation programme are to: (1) maintain a genetically and demographically managed captive population; (2) create new Iberian lynx Lynx pardinus freeranging populations through re-introduction. To achieve the first goal, the Conservation Breeding Program aims to maintain 85% of the genetic diversity presently found in the wild for the next 30 years. This requires developing and maintaining 60-70 Iberian lynx as breeding stock. Growth projections indicate that the ex situ programme should achieve such a population target by the year 2010. Once this goal is reached, re-introduction efforts could begin. Thus, current ex situ efforts focus on producing psychologically and physically sound captive-born individuals. To achieve this goal, we use management and research techniques that rely on multidisciplinary input and knowledge generated on species' life history, behaviour, nutrition, veterinary and health aspects, genetics, reproductive physiology, endocrinology and ecology. Particularly important is adapting our husbandry schemes based on research data to promote natural behaviours in captivity (hunting, territoriality, social interactions) and a stress-free environment that is conducive to natural reproduction

Staging Parkinson's Disease Combining Motor and Nonmotor Symptoms Correlates with Disability and Quality of Life

Altres ajuts: Fundació La Marató De TV3In a degenerative disorder such as Parkinson's disease (PD), it is important to establish clinical stages that allow to know the course of the disease. Our aim was to analyze whether a scale combining Hoehn and Yahr's motor stage (H&Y) and the nonmotor symptoms burden (NMSB) (assessed by the nonmotor symptoms scale (NMSS)) provides information about the disability and the patient's quality of life (QoL) with regard to a defined clinical stage. Cross-sectional study in which 603 PD patients from the COPPADIS cohort were classified according to H&Y (1, stage I; 2, stage II; 3, stage III; 4, stage IV/V) and NMSB (A: NMSS = 0-20; B: NMSS = 21-40; C: NMSS = 41-70; D: NMSS ≥ 71) in 16 stages (HY.NMSB, from 1A to 4D). QoL was assessed with the PDQ-39SI, PQ-10, and EUROHIS-QOL8 and disability with the Schwab&England ADL (Activities of Daily Living) scale. A worse QoL and greater disability were observed at a higher stage of H&Y and NMSB (p < 0.0001). Combining both (HY.NMSB), patients in stages 1C and 1D and 2C and 2D had significantly worse QoL and/or less autonomy for ADL than those in stages 2A and 2B and 3A and 3B, respectively (p < 0.005; e.g., PDQ-39SI in 1D [ n = 15] vs 2A [ n = 101]: 28.6 ± 17.1 vs 7.9 ± 5.8; p < 0.0001). The HY.NMSB scale is simple and reflects the degree of patient involvement more accurately than the H&Y. Patients with a lower H&Y stage may be more affected if they have a greater NMS burden

GRECOS project (Genotyping Recurrence Risk of Stroke). The use of genetics to predict the vascular recurrence after stroke

Altres ajuts: This study was funded by Marato TV3, by the Spanish stroke research network (INVICTUS-PLUS) and by Generacion project (PI15/01978) Instituto de Salud Carlos III. Dr Fernández-Cadenas is supported by the Miguel Servet program (CP12/03298), Instituto de Salud Carlos III. Several groups participate in the International Stroke Genetics Consortium and the Spanish Stroke Genetics Consortium. The Hospital del Mar is supported by Spain's Ministry of Health (III FEDER, RD12/0042/0020). Study recruitment and collection of data sets for the VISP trial were supported by a grant (R01 NS34447; PI James Toole) from the National Institute of Neurological Disorders and Stroke (NINDS). Genome-wide association studies genotyping (U01 HG004438l; PI David Valle), funded by the National Human Genome Research Institute and the Genomics and Randomized Trials (GARNET) Network (U01HG00516-03; co-PI Michèle M. Sale and Bradford B. Worrall), and genetic data cleaning was provided by the GARNET Coordinating Center (U01HG005157; PI Bruce S. Weir)Background and Purpose-Vascular recurrence occurs in 11% of patients during the first year after ischemic stroke (IS) or transient ischemic attack (TIA). Clinical scores do not predict the whole vascular recurrence risk, therefore we aimed to find genetic variants associated with recurrence that might improve the clinical predictive mode is in IS. Methods-We analyzed 256 polymorphisms from 115 candidate genes in three patient cohorts comprising 4,482 IS or TIA patients. The discovery cohort was prospectively recruited and included 1,494 patients, 6.2% of them developed a new IS during the first year of follow-up. Replication analysis was performed in 2,988 patients using SNPlex or HumanOmni1-Quad technology. We generated a predictive model using Cox regression (GRECOS score), and generated risk groups using a classification tree method. Results-The analyses revealed that rs1800801 in the MGP gene (HR: 1.33, p= 9×10−03), a gene related to artery calcification, was associated with new IS during the first year of follow-up. This polymorphism was replicated in a Spanish cohort (n=1.305), however it was not significantly associated in a North American cohort (n=1.683). The GRECOS score predicted new IS (p=3.2×10−09) and could classify patients, from low risk of stroke recurrence (1.9%) to high risk (12.6%). Moreover, the addition of genetic risk factors to the GRECOS score improves the prediction compared to previous SPI-II score (p=0.03). Conclusions-The use of genetics could be useful to estimate vascular recurrence risk after IS. Genetic variability in the MGP gene was associated with vascular recurrence in the Spanish population