This symposium seeks to the interaction between members of national and international platforms of information, biobanks, bioinformatics and phenotyping of genetically engineered mice
Biomedical research is the basis for providing new tools for the diagnosis and treatment of rare diseases. There are around eight thousand rare diseases, each of them with a maximal prevalence of one case per 2,000 inhabitants. In this context, the availability of homogenous, detailed scientific information, and accessible to the patient, is essential to define the spectrum of action of basic researchers and clinicians. This is the service that Orphanet offers in the field of rare diseases. Open access and documentation initiatives, especially those that expand the field and go to the patient as a Europe PMC, made valuable contributions to the advancement of public awareness. In parallel, the role of biobanks in the storage of samples from rare disease patients increases the opportunities for genetic research.
All those wishing to attend this event should fill out this registration form until the day 11/02/2016, and send it to: International Symposium: International platforms for biomedical research: A focus on rare diseasesRead more