A Rare Disease Patient Manager

  • Pedro LopesEmail author
  • Rafael Mendonça
  • Hugo Rocha
  • Jorge Oliveira
  • Laura Vilarinho
  • Rosário Santos
  • José Luís Oliveira
Part of the Advances in Intelligent and Soft Computing book series (AINSC, volume 154)


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.


Rare Diseases Genetic Mutations LSDB Personalized Medicine 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Nabarette, H., Oziel, D., Urbero, B., Maxime, N., Aymé, S.: Use of a directory of specialized services and guidance in the healthcare system: the example of the Orphanet database for rare diseases. Revue d’épidémiologie et de santé publique 54(1), 41 (2006)CrossRefGoogle Scholar
  2. 2.
    Schieppati, A., Henter, J.I., Daina, E., Aperia, A.: Why rare diseases are an important medical and social issue. The Lancet 371(9629), 2039–2041 (2008)CrossRefGoogle Scholar
  3. 3.
    Burke, W.: Genetic testing. N. Engl. J. Med. 347(23), 1867–1875 (2002)CrossRefGoogle Scholar
  4. 4.
    Krawczak, M., Ball, E.V., Fenton, I., Stenson, P.D., Abeysinghe, S., Thomas, N., Cooper, D.N.: Human gene mutation database—a biomedical information and research resource. Human Mutation 15(1), 45–51 (2000)CrossRefGoogle Scholar
  5. 5.
    Via, M., Gignoux, C., Burchard, E.G.: The 1000 Genomes Project: new opportunities for research and social challenges. Genome Medicine 2(1), 1–3 (2010)CrossRefGoogle Scholar
  6. 6.
    Schneeweiss, S., Avorn, J.: A review of uses of health care utilization databases for epidemiologic research on therapeutics. Journal of Clinical Epidemiology 58(4), 323–337 (2005)CrossRefGoogle Scholar
  7. 7.
    Seoane-Vazquez, E., Rodriguez-Monguio, R., Szeinbach, S.L., Visaria, J.: Orphanet Journal of Rare Diseases. Orphanet Journal of Rare Diseases 3, 33 (2008)CrossRefGoogle Scholar
  8. 8.
    Oliveira, J.L., Dias, G., Oliveira, I., Rocha, P., Hermosilla, I., Vicente, J., Spiteri, I., Martín-Sánchez, F., Pereira, A.S.: DiseaseCard: A Web-Based Tool for the Collaborative Integration of Genetic and Medical Information. In: Barreiro, J.M., Martín-Sánchez, F., Maojo, V., Sanz, F. (eds.) ISBMDA 2004. LNCS, vol. 3337, pp. 409–417. Springer, Heidelberg (2004)CrossRefGoogle Scholar
  9. 9.
    Claustres, M., Horaitis, O., Vanevski, M., Cotton, R.G.H.: Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases. Genome Research 12(5), 680 (2002)CrossRefGoogle Scholar
  10. 10.
    Kohonen-Corish, M.R., Al-Aama, J.Y., Auerbach, A.D., Axton, M., Barash, C.I., Bernstein, I., Beroud, C., Burn, J., Cunningham, F., Cutting, G.R., den Dunnen, J.T., Greenblatt, M.S., Kaput, J., Katz, M., Lindblom, A., Macrae, F., Maglott, D., Moslein, G., Povey, S., Ramesar, R., Richards, S., Seminara, D., Sobrido, M.J., Tavtigian, S., Taylor, G., Vihinen, M., Winship, I., Cotton, R.G.: How to catch all those mutations–the report of the third Human Variome Project Meeting, UNESCO Paris. Hum. Mutat. 31(12), 1374–1381 (2010); doi:10.1002/humu.21379Google Scholar
  11. 11.
    Patrinos, G.P., Al Aama, J., Al Aqeel, A., Al-Mulla, F., Borg, J., Devereux, A., Felice, A.E., Macrae, F., Marafie, M.J., Petersen, M.B., Qi, M., Ramesar, R.S., Zlotogora, J., Cotton, R.G.: Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection. Hum. Mutat. 32(1), 2–9 (2011); doi:10.1002/humu.21397Google Scholar
  12. 12.
    Lopes, P., Dalgleish, R., Oliveira, J.L.: WAVe: Web Analysis of the Variome. Human Mutation 32 (2011); doi:10.1002/humu.21499Google Scholar
  13. 13.
    Hamosh, A., Scott, A.F., Amberger, J.S., Bocchini, C.A., McKusick, V.A.: Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Research 33(suppl. 1), D514–D517 (2005)Google Scholar
  14. 14.
    Bruford, E.A., Lush, M.J., Wright, M.W., Sneddon, T.P., Povey, S., Birney, E.: The HGNC Database in 2008: a resource for the human genome. Nucleic Acids Research 38(suppl. 1), D445–D448 (2008)Google Scholar
  15. 15.
    Riikonen, P., Vihinen, M.: MUTbase: maintenance and analysis of distributed mutation databases. Bioinformatics 15(10), 852–859 (1999); doi:10.1093/bioinformaticsGoogle Scholar
  16. 16.
    Béroud, C., Collod-Béroud, G., Boileau, C., Soussi, T., Junien, C.: UMD (Universal Mutation Database): A generic software to build and analyze locus-specific databases. Human Mutation 15(1), 86–94 (2000)CrossRefGoogle Scholar
  17. 17.
    Fokkema, I.F.A.C., den Dunnen, J.T., Taschner, P.E.M.: Taschner LOVD: Easy creation of a locus-specific sequence variation database using an ldquoLSDB-in-a-boxrdquo approach. Human Mutation 26(2), 63–68 (2005)CrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • Pedro Lopes
    • 1
    Email author
  • Rafael Mendonça
    • 1
  • Hugo Rocha
    • 2
  • Jorge Oliveira
    • 2
  • Laura Vilarinho
    • 2
  • Rosário Santos
    • 2
  • José Luís Oliveira
    • 1
  1. 1.DETI/IEETAUniversidade de AveiroAveiroPortugal
  2. 2.Centro de Genética Médica Jacinto MagalhãesINSAPortoPortugal

Personalised recommendations