Social networks and chronic and rare diseases

ePACIBARD METHODOLOGY. ePATIENTS PRODUCING COLLABORATIVE INTELLIGENCE IN THE AREA OF RARE DISEASES

2013-2014 – Asociación Española Síndrome de Lowe; Association Française du Syndrome de Lowe; Associazione Italiana Sindrome di Lowe; Proyecto de micromecenazgo #LoweResearchProject, Hospital Sant Joan de Déu - UOC.

Creation of a conceptual model of the participative research that, through the intensive use of new technologies by parents and patients’ organizations —and in collaboration with healthcare professionals—, is to act as a catalyser for biomedical, psychological and social research in the area of rare diseases.

See research area

SUMMARY

The model is based on the premise that collaborative, transnational and multi-dimensional work is the only alternative to speed up the process of increasing knowledge and research on thousands of rare diseases, about which, at the present time, no research projects are being developed. In fact, this context of lack of research produces great suffering in patients and families, both due to the lack of treatment protocols or work guidelines, and to the uncertainty about their evolution and complications, felt both by professionals and those affected.

Although our main objective was the conceptual design of a framework that would make it possible to apply the same methodology to different diseases, the model began with a specific rare disease, Lowe Syndrome (oculocerebrorenal syndrome, OCRL): a multi-systemic disorder characterized mainly by anomalies that affect the eye, nervous system and kidneys.

UP

TEAM

UP

MATERIALS

Seminario web Inteligencia colectiva e investigación en enfermedades raras. Canal TeKuidamos 2.0. 14 de mayo de 2013.

Featured publications:

Armayones, M., Camino-León, R., Cantarín, V., De la Fuente, J., Families Lowe Syndrome, S., Gómez, B., Maldonado, E., Nafría, B., Ojea, T., Pascual, S., Pérez, B., Pousada, M., Serrano & M., Vidal-Valls, J. (2013). Results of a families-researchers collaborative project in Lowe Syndrome: ten patients with a wide neurological phenotype. Journal of Inherited Metabolic Disease. Núm. 2, p. 330. ISSN.0141-8955. doi: 10.1007/s10545-013-9635-x.

Armayones, M. y Serrano, M. (2013). Innovación en Investigación en Enfermedades Raras: ePacibard Alliance. En X Jornadas Andaluzas Salud Investiga. Granada, 02/12/2013. Vídeo de la ponencia.

Armayones, M., Cantarín, V., De la Fuente, J., Gómez, B., León, C., Maldonado, E., Nafría, B., Ojea, T., Paredes, F., Pascual, S., Pérez, B., Pousada, M., Serrano, M. & Vidal, J. (2013). Results of a families-researchers collaborative project in LoweSyndrome: Ten patients with a wide neurological phenotype. A ICIEM 2013. 12th International Congress of inborns errors of metabolism. Hospital Sant Joan de Déu. Barcelona, 03/06/2009.

Armayones, M. & Cutillas, J. (2012). El potencial de las asociaciones y la web 2.0 en las enfermedades congénitas del metabolismo (ECM). A I Jornada Científico-Familiar Síndrome de Lowe. Hospital St. Joan de Déu / Asociación Española Síndrome de Lowe. Barcelona, 01/01/2012.

UP

COLLABORATIONS

This project involves, together with UOC, the Hospital Sant Joan de Déu, which develops the conceptual model based on the generation of knowledge by parents and patients’ organisations in relation to other diseases; researchers from Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) from the Instituto de Salud Carlos III, the Federación Española de Enfermedades Raras (FEDER), the European Federation of Rare Diseases (Eurordis), and the Asociación Española para el Síndrome de Lowe.

Funding

Departament de Salut, Generalitat de Catalunya; Novartis; Fundación Honda, UNNIM grants for Social Projects; DKV Insurances.

UP