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A Rare Disease Patient Manager
Publication . Lopes, Pedro; Mendonça, Rafael; Rocha, Hugo; Oliveira, Jorge; Vilarinho, Laura; Santos, Rosário; Oliveira, José
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.
A Rare Disease Patient Manager
Publication . Lopes, Pedro; Mendonça, Rafael; Rocha, Hugo; Oliveira, Jorge; Vilarinho, Laura; Santos, Rosário; Oliveira, José
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.
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach
Publication . Giardine, Belinda; Borg, Joseph; Higgs, Douglas R; Peterson, Kenneth; Philipsen, Sjaak; Maglott, Donna; Singleton, Belinda; Anstee, David J; Basak, Nazli; Clark, Barnaby; Costa, Flavia C; Faustino, Paula; Fedosyuk, Halyna; Felice, Alex E; Francina, Alain; Galanello, Renzo; Gallivan, Monica VE; Georgitsi, Marianthi; Gibbons, Richard J; Giordano, Piero C; Harteveld, Cornelis L; Hoyer, James D; Jarvis, Martin; Joly, Philippe; Kanavakis, Emmanuel; Kollia, Panagoula; Menzel, Stephan; Miller, Webb; Moradkhani, Kamran; Old, John; Papachatzopoulou, Adamantia; Papadakis, Manoussous N; Papadopoulos, Petros; Pavlovic, Sonja; Perseu, Lucia; Radmilovic, Milena; Riemer, Cathy; Satta, Stefania; Schrijver, Iris; Stojiljkovic, Maja; Thein, Swee Lay; Traeger-Synodinos, Jan; Tully, Ray; Wada, Takahito; Wayne, John S; Wiemann, Claudia; Zukic, Branda; Chui, David HK; Wajcman, Henri; Hardison, Ross C; Patrinos, George P
We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories. A total of 1,941 unique genetic variants in 37 genes, encoding globins and other erythroid proteins, are currently documented in these databases, with reciprocal attribution of microcitations to data contributors. Our project provides the first example of implementing microattribution to incentivise submission of all known genetic variation in a defined system. It has demonstrably increased the reporting of human variants, leading to a comprehensive online resource for systematically describing human genetic variation in the globin genes and other genes contributing to hemoglobinopathies and thalassemias. The principles established here will serve as a model for other systems and for the analysis of other common and/or complex human genetic disease.
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Funding agency
European Commission
Funding programme
FP7
Funding Award Number
200754