the Biobanco Nacional de Enfermedades Raras (BioNER) website’s objective is to provide quality biological samples to support national and international rare diseases research. The Spanish Health Institute Carlos III (ISCIII) is the head of BioNER, being its operational and functional management and direction attributed to Instituto de Investigación de Enfermedades Raras (IIER). BioNER entered in el Registro de Biobancos with registration number B.0000886 on November 14th 2013 and the file that controls and stores the data is also registered with the Spanish Data Protection Agency (AEPD) under number 2060180217, on July 5th 2012, under the name of “Registro de Enfermedades Raras y Banco de Muestras”.
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This website offers a set of free biomarker commercialization tools to help researchers, small and medium sized companies (SMEs), and technology transfer offices (TTOs) tackle the highly regulated and interdisciplinary landscape of in-vitro diagnostics applicable biomarkers, i.e., markers intended to provide information on the health status of a person.
The tools guide researchers and product developers through the technology readiness levels (TRL) and remind about the technical, regulatory, and business aspects of the innovation process.
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Biomarkers in Rare Diseases
Published by International Journal of Molecular Sciences
Rare diseasesBiomarkersThe focus of this article is to provide a broad platform for original research and state-of-the-art reviews on novel or established proteomic, metabolomic, or transcriptomic biomarkers that contribute to the understanding of the underlying molecular mechanisms of rare diseases and/or that can be used for the diagnosis and prognosis of disease and individuals’ responses to therapies. The collection includes eight original research papers, one commentary, and six review articles from groups investigating biomarkers for a diverse range of rare diseases.
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