RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research
نویسندگان
چکیده
منابع مشابه
The Challenge for a European Network of Biobanks for Rare Diseases Taken up by RD-Connect
Access to biological materials is a key prerequisite for scientific research in any medical field and in particular for research into rare diseases (RDs), for which obtaining high-quality samples and the related clinical data remains a major hurdle. RD biobanks play a pivotal role in making such materials and data available to the scientific community. In order to increase the effectiveness of ...
متن کاملSetting up strategies: patient inclusion in biobank and genomics research in Europe
Rare disease patient organisations have a tendency to be deeply involved in research development and infrastructures, and are practiced at founding strategic alliances with clinical and research networks [1]. In building an integrated platform for rare disease databases, registries, biobanks and bioinformatics through the RD Connect project, we wanted to explore explicitly and in detail, the in...
متن کاملA knowledge federation architecture for rare disease patient registries and biobanks
Patient registries are a source of standardized electronic patient information. These records are vital to identify and coordinate a proper cohort, especially for the rare disease domain. Likeness, biobanks are currently an essential instrument for biomedical research, since they provide the very first piece of the biomedical research cycle, i.e. the biological samples. However, connection betw...
متن کاملDown syndrome: national conference on patient registries, research databases, and biobanks.
A December 2010 meeting, "Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks," was jointly sponsored by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at the National Institutes of Health (NIH) in Bethesda, MD, and the Global Down Syndrome Foundation (GDSF)/Linda Crnic Institute for Down Syndrome based in Denve...
متن کاملTowards a European platform for Rare Diseases Registries
The Joint Research Centre (JRC) is a Directorate-General (DG) of the European Commission (EC), it was established in 1957 and its mission is to provide independent, evidence-based scientific and technical support throughout the EU policy cycle. Health is a key European policy area and research on Rare Diseases (RD) is identified as a priority in both the Commission Communication on RD: Europe’s...
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ژورنال
عنوان ژورنال: Journal of General Internal Medicine
سال: 2014
ISSN: 0884-8734,1525-1497
DOI: 10.1007/s11606-014-2908-8