The purposes of Undiagnosed Diseases Programs (UDPs) are to provide patients with an unknown genetic condition a diagnosis and to find the correlation between genotype and phenotype; to share globally the information to facilitate the diagnosis through a matchmaking for finding possible second cases

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The purpose of NBS is to detect potentially fatal or disabling conditions in newborns as early as possible and possibly before onset of symptoms. Such detection allows the early treatment which may significantly modify the natural history of the disease and potentially prevent developmental delays, physical disabilities and eventually death.

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Biobanco Nacional de Enfermedades Raras (BioNER)

Published by Bioner

Rare diseasesBiobankBioner

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

BiomarkersRare diseases

The 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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Predictive biomarker-based assay development in the context of drug development and lifecycle

Published by EMA

Predictive BiomarkersEMA

The proposed concept paper is intended to be developed into a guideline which will replace the reflection paper on co-development of pharmacogenomic biomarkers and assays in the context of drug development. The guideline will provide recommendations on the interface between predictive biomarker-based assays including CDx, and the development and lifecycle of a medicine.

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The International Agency for Research on Cancer (IARC) Biobank

Published by IARC

BiobankIARC

IARC has developed its own Standard Operating Procedures (SOPs) for the collection, storage and shipment of biological samples. In addition, IARC provides the links of interesting biobank websites and resources.

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