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Sökning: WFRF:(Nigro Vincenzo)

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1.
  • Iacomussi, Sofia, et al. (författare)
  • Governance of Access in Biobanking: The Case of Telethon Network of Genetic Biobanks
  • 2021
  • Ingår i: Biopreservation and Biobanking. - : Mary Ann Liebert. - 1947-5535 .- 1947-5543. ; 19:6, s. 483-492
  • Tidskriftsartikel (refereegranskat)abstract
    • The discussion concerning the measure of the quality of a biobank should focus not only on the number of stored samples and their quality but also on the assessment of their access arrangements and governance. This article aims at contributing to the ongoing debate on samples and data access governance in biobanking by presenting the case of the Telethon Network of Genetic Biobanks (TNGB). We attempt to contribute to the need for clear and available access criteria and harmonization in access arrangements to maximize the influence of biobanks in the progress of biomedical research. We reviewed all the sample requests submitted to the TNGB from 2008 to 2020, focusing on those rejected by the Access Committee and the reasons behind the rejections. The analysis of the reasons behind the rejected requests allowed us to analyze how those relate to the issues of scientific misconduct, prioritization, and noncompliance with the biobank's mission. We discuss those issues in light of the actions and motivations used by TNGB in the access decision-making process. Based on this analysis, we suggest that a cross-implementation of a checklist for access assessment would improve the whole access process, ensuring a more transparent and smoother governance. Finally, we conclude that the TNGB's Charter and approach toward access governance could contribute as an important reference point to deal with the issues that have emerged in the international discussion on the topic.
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2.
  • Savarese, Marco, et al. (författare)
  • Genotype-phenotype correlations in recessive titinopathies.
  • 2020
  • Ingår i: Genetics in Medicine. - : Elsevier BV. - 1098-3600 .- 1530-0366. ; 22:12, s. 2029-2040
  • Tidskriftsartikel (refereegranskat)abstract
    • PURPOSE: High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (TTN) coding sequence. This has resulted in the identification of a growing number of recessive titinopathy patients. The aim of this study was to (1) characterize the causative genetic variants and clinical features of the largest cohort of recessive titinopathy patients reported to date and (2) to evaluate genotype-phenotype correlations in this cohort.METHODS: We analyzed clinical and genetic data in a cohort of patients with biallelic pathogenic or likely pathogenic TTN variants. The cohort included both previously reported cases (100 patients from 81 unrelated families) and unreported cases (23 patients from 20 unrelated families).RESULTS: Overall, 132 causative variants were identified in cohort members. More than half of the cases had hypotonia at birth or muscle weakness and a delayed motor development within the first 12 months of life (congenital myopathy) with causative variants located along the entire gene. The remaining patients had a distal or proximal phenotype and a childhood or later (noncongenital) onset. All noncongenital cases had at least one pathogenic variant in one of the final three TTN exons (362-364).CONCLUSION: Our findings suggest a novel association between the location of nonsense variants and the clinical severity of the disease.
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