Assessing resilience at University

[EN] Promoting quality results also requires the ability to measure outcomes and to identify what context variables can affect the student’s success. The aim of this work is to analyze the distances in terms of the results obtained to a test on generalist skills among students with different family background (advantaged vs disadvantaged) and with brilliant performance, verifying whether these differences are significant. The analysis suggest that for resilient, the social background does not predict the student’s performance, thus we suppose that the skills achieved during the University studies could contribute to the reduction of the distance among students with different social background.Ciolfi, A.; Sabella, M. (2017). Assessing resilience at University. En Proceedings of the 3rd International Conference on Higher Education Advances. Editorial Universitat Politècnica de València. 1104-1112. https://doi.org/10.4995/HEAD17.2017.55221104111

Competencies and higher education: evidences and returns. The TECO project

[EN] The aim of this work is to present the state of progress and the main features of the TECO (TEst of COmpetence) project, promoted by the (Italian) National Agency for the Evaluation of Universities and Research Institutes with the aim to assess students’ learning outcomes in the higher education contest. The results of the 2017-2018 TECO survey (which involved voluntarily over 12,500 nursing, physiotherapy and medical radiology students), showed that attending a university programme makes a difference in development of some competencies, especially for the disciplinary sphere. The analysis will focus on the connections between the characteristics of the students at the beginning of their study career and the achieved level of tested competences. The return of the test results to the students and study programmes’ coordinators will be presented and discussed, considering their possible uses in a self-assessment perspective. TECO results and the new indicators that will be originated from this project could prove to be reliable tools for university programmes self-assessment, encouraging the use of evidence-based strategies for higher education improvement.Ciolfi, A.; Di Benedetto, A. (2019). Competencies and higher education: evidences and returns. The TECO project. En HEAD'19. 5th International Conference on Higher Education Advances. Editorial Universitat Politècnica de València. 583-892. https://doi.org/10.4995/HEAD19.2019.9308OCS58389

Key-competences in higher education as a tool for democracy

As the focus of teaching progressively moves from being transmissive to student-centred, under the beneficial pressure of the European recommendations, the debate on how to form and measure competences in students has become topical. This transformation was made necessary to nudge education institutions towards accountability, and to allow students (and their families) to make informed school choices. Large-scale achievement or cognitive tests were then developed by international organizations and administered in schools. The focus of the present paper is to provide empirical evidence that this process can be successfully embraced also by the higher education system. To this end we report data from several surveys in which ANVUR, the Italian public agency for the evaluation of universities and research institutes, administered the Test of Competence (TECO) to evaluate generic and disciplinary competences in first- and third-year undergraduate students. Using the value-added approach, we demonstrate that both types of competences can be formed by higher education institutions and that the university attendance makes a difference, especially for the disciplinary ones. The study qualifies TECO as a reliable tool for self-assessment of teaching effectiveness, to be used for evidence-based policies in higher education

Have you Read This? An Empirical Comparison of the British REF Peer Review and the Italian VQR Bibliometric Algorithm

This paper determines the assessment of the publications submitted to the UK research evaluation carried out in 2014, the REF, which would have resulted if they had been assessed with the bibliometric algorithm used by the Italian evaluation agency, ANVUR, for its evaluation of the research of Italian universities. We find extremely high correlations between the two assessment approaches

First narrow-band search for continuous gravitational waves from known pulsars in advanced detector data

Spinning neutron stars asymmetric with respect to their rotation axis are potential sources of continuous gravitational waves for ground-based interferometric detectors. In the case of known pulsars a fully coherent search, based on matched filtering, which uses the position and rotational parameters obtained from electromagnetic observations, can be carried out. Matched filtering maximizes the signalto- noise (SNR) ratio, but a large sensitivity loss is expected in case of even a very small mismatch between the assumed and the true signal parameters. For this reason, narrow-band analysis methods have been developed, allowing a fully coherent search for gravitational waves from known pulsars over a fraction of a hertz and several spin-down values. In this paper we describe a narrow-band search of 11 pulsars using data from Advanced LIGO’s first observing run. Although we have found several initial outliers, further studies show no significant evidence for the presence of a gravitational wave signal. Finally, we have placed upper limits on the signal strain amplitude lower than the spin-down limit for 5 of the 11 targets over the bands searched; in the case of J1813-1749 the spin-down limit has been beaten for the first time. For an additional 3 targets, the median upper limit across the search bands is below the spin-down limit. This is the most sensitive narrow-band search for continuous gravitational waves carried out so far

The THESEUS space mission concept: science case, design and expected performances

THESEUS is a space mission concept aimed at exploiting Gamma-Ray Bursts for investigating the early Universe and at providing a substantial advancement of multi-messenger and time-domain astrophysics. These goals will be achieved through a unique combination of instruments allowing GRB and X-ray transient detection over a broad field of view (more than 1sr) with 0.5¿1 arcmin localization, an energy band extending from several MeV down to 0.3¿keV and high sensitivity to transient sources in the soft X-ray domain, as well as on-board prompt (few minutes) follow-up with a 0.7¿m class IR telescope with both imaging and spectroscopic capabilities. THESEUS will be perfectly suited for addressing the main open issues in cosmology such as, e.g., star formation rate and metallicity evolution of the inter-stellar and intra-galactic medium up to redshift 10, signatures of Pop III stars, sources and physics of re-ionization, and the faint end of the galaxy luminosity function. In addition, it will provide unprecedented capability to monitor the X-ray variable sky, thus detecting, localizing, and identifying the electromagnetic counterparts to sources of gravitational radiation, which may be routinely detected in the late ¿20s/early ¿30s by next generation facilities like aLIGO/ aVirgo, eLISA, KAGRA, and Einstein Telescope. THESEUS will also provide powerful synergies with the next generation of multi-wavelength observatories (e.g., LSST, ELT, SKA, CTA, ATHENA).© 2018 COSPARS.E. acknowledges the financial support from contracts ASI-INAF 1/009/10/0, NARO15 ASI-INAF 1/037/12/0 and ASI 2015-046-R.0. R.H. acknowledges GACR grant 13-33324S. S.V. research leading to these results has received funding from the European Union's Seventh Framework Programme for research, technological development and demonstration under grant agreement no 606176. D.S. was supported by the Czech grant 1601116S GA CR. Maria Giovanna Dainotti acknowledges funding from the European Union through the Marie Curie Action FP7-PEOPLE-2013-IOF, under grant agreement No. 626267 (>Cosmological Candles>)

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.

Funder: EC | EC Seventh Framework Programm | FP7 Health (FP7-HEALTH - Specific Programme "Cooperation": Health); doi: https://doi.org/10.13039/100011272; Grant(s): 305444, 305444Funder: Ministerio de Economía y Competitividad (Ministry of Economy and Competitiveness); doi: https://doi.org/10.13039/501100003329Funder: Generalitat de Catalunya (Government of Catalonia); doi: https://doi.org/10.13039/501100002809Funder: EC | European Regional Development Fund (Europski Fond za Regionalni Razvoj); doi: https://doi.org/10.13039/501100008530Funder: Instituto Nacional de Bioinformática ELIXIR Implementation Studies Centro de Excelencia Severo OchoaFunder: EC | EC Seventh Framework Programm | FP7 Health (FP7-HEALTH - Specific Programme "Cooperation": Health)Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and clinical environments. The Solve-RD project aims to reveal the molecular causes underlying undiagnosed rare diseases. One of the goals is to implement innovative approaches to reanalyse the exomes and genomes from thousands of well-studied undiagnosed cases. The raw genomic data is submitted to Solve-RD through the RD-Connect Genome-Phenome Analysis Platform (GPAP) together with standardised phenotypic and pedigree data. We have developed a programmatic workflow to reanalyse genome-phenome data. It uses the RD-Connect GPAP's Application Programming Interface (API) and relies on the big-data technologies upon which the system is built. We have applied the workflow to prioritise rare known pathogenic variants from 4411 undiagnosed cases. The queries returned an average of 1.45 variants per case, which first were evaluated in bulk by a panel of disease experts and afterwards specifically by the submitter of each case. A total of 120 index cases (21.2% of prioritised cases, 2.7% of all exome/genome-negative samples) have already been solved, with others being under investigation. The implementation of solutions as the one described here provide the technical framework to enable periodic case-level data re-evaluation in clinical settings, as recommended by the American College of Medical Genetics

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.

For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites from 15 countries. Solve-RD is built upon a core group of four European Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually see more than 270,000 RD patients with respective pathologies. The main ambition is to solve unsolved rare diseases for which a molecular cause is not yet known. This is achieved through an innovative clinical research environment that introduces novel ways to organise expertise and data. Two major approaches are being pursued (i) massive data re-analysis of >19,000 unsolved rare disease patients and (ii) novel combined -omics approaches. The minimum requirement to be eligible for the analysis activities is an inconclusive exome that can be shared with controlled access. The first preliminary data re-analysis has already diagnosed 255 cases form 8393 exomes/genome datasets. This unprecedented degree of collaboration focused on sharing of data and expertise shall identify many new disease genes and enable diagnosis of many so far undiagnosed patients from all over Europe

Solving unsolved rare neurological diseases-a Solve-RD viewpoint.

Funder: Durch Princess Beatrix Muscle Fund Durch Speeren voor Spieren Muscle FundFunder: University of Tübingen Medical Faculty PATE programFunder: European Reference Network for Rare Neurological Diseases | 739510Funder: European Joint Program on Rare Diseases (EJP-RD COFUND-EJP) | 44140962