Abstract
The personal health implications behind rare diseases are seldom considered in widespread medical care. The low incidence rate and complex treatment process makes rare disease research an underrated field in the life sciences. However, it is in these particular conditions that the strongest relations between genotypes and phenotypes are identified. The rare disease patient manager, detailed in this manuscript, presents an innovative perspective for a patient-centric portal integrating genetic and medical data. With this strategy, patient’s digital records are transparently integrated and connected to wet-lab genetics research in a seamless working environment. The resulting knowledge base offers multiple data views, geared towards medical staff, with patient treatment and monitoring data; genetics researchers, through a custom locus-specific database; and patients, who for once play an active role in their treatment and rare diseases research.
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Lopes, P. et al. (2012). A Rare Disease Patient Manager. In: Rocha, M., Luscombe, N., Fdez-Riverola, F., Rodríguez, J. (eds) 6th International Conference on Practical Applications of Computational Biology & Bioinformatics. Advances in Intelligent and Soft Computing, vol 154. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-28839-5_20
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DOI: https://doi.org/10.1007/978-3-642-28839-5_20
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