International platforms for biomedical research: A focus on rare diseases

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.
The development and study of animal models of human diseases has a central role in the field of rare diseases. The characterization of the genome of different species and the phenotyping of rare disease animal models contributes to the study of the physiopathology, the understanding of the molecular mechanisms underlying, to identify diagnostic criteria and to the evaluation and refinement of new therapies. Since the majority of rare diseases present a complex syndromic nature, it is necessary to offer a range of specialized tests able to evaluate the function of different organs.
The generation of genome, transcriptome and proteome data contributes to clarify the biological processes and mechanisms of disease, as well as to the clinical and pharmacogenetic evaluation of patients. Massive analysis of these data together with the increasingly growing genomic Big Data already existent in databases, in particular in the case of rare diseases, facilitates valuable information that requires the development and use of programs and bioinformatic platforms as ELIXIR.
This symposium seeks to the interaction between members of national and international platforms of information, biobanks, bioinformatics and phenotyping of genetically engineered mice. The evolution of technology and of the resources available in these areas is on-going and accelerated, so the symposium offers a unique educational opportunity for early stage researchers.
Thu, 03/11/2016 (All day) - Fri, 04/11/2016 (All day)
Fundacion Ramon Areces, Madrid, Spain