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A Rare Disease Patient Manager
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Orientador(es)
Resumo(s)
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.
Descrição
Artigo publicado em: Advances in Intelligent and Soft Computing. 2012;154:173-180.
Palavras-chave
Rare Diseases Genetic Mutations LSDB Personalized Medicine Doenças Genéticas