Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/973
Título: A Rare Disease Patient Manager
Autor: Lopes, Pedro
Mendonça, Rafael
Rocha, Hugo
Oliveira, Jorge
Vilarinho, Laura
Santos, Rosário
Oliveira, José
Palavras-chave: Rare Diseases
Genetic Mutations
LSDB
Personalized Medicine
Doenças Genéticas
Data: 28-Mar-2012
Resumo: 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.
Peer review: yes
URI: http://hdl.handle.net/10400.18/973
Aparece nas colecções:DGH - Apresentações orais em encontros internacionais

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