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The CIBERER organised a Workshop on 31 March and 1 April at the MSSSI for the purpose of examining the knowledge and improvement of the practices of European centres of expertise on RDs and debating on their participation in European Reference Networks . The preliminary results of WP7, as well as experiences of some Centres of Expertise were presented at this meeting .
In this sense, it must be pointed out that the CIBERER was designed in 2014 by the MSSSI as a partner in the new Rare Disease Joint Action (RD ACTION) 2015-2017, giving the maintenance and coordination work of both Orphanet-Spain and the EUCERD Joint Action a chance to continue .
MAINTENANCE OF HEALTHCARE TRANSLATION COLLABORATION AGREEMENTS, INCLUDING PATIENT REGISTRIES FOR CLINICAL RESEARCH
The CIBERER has been entering collaboration agreements with a number of entities, many of which work in the translational field, for some time .
The most noteworthy of such agreements are the general agreements entered into with the Federación Española de Enfermedades Raras (FEDER), Fundación Pública Andaluza Progreso or Fundación Medina, setting up stable channels for collaboration offering consistency and continuity to any initiatives, programmes, projects and actions aimed at the group of people with rare diseases that may be developed jointly by both Institutions .
The importance of registries in the field of rare diseases must be highlighted within the field of translational research.
The scarce documented information about the epidemiology of rare diseases makes it obvious that there is a need to estimate the total number of people affected and the prevalence of each disease, and to evaluate the natural history of these diseases for the purpose of adapting health care to it and being able to improve disease follow-up .
Therefore, in 2014 CIBERER continued working on the start-up and maintenance of various registries, such as:
• Rare Disease Registry of the Instituto de Investigación de Enfermedades Raras (IIER-ISCIII), whose coordinator is Dr . Posada-U758 .
• Maintenance of the Fanconi Anaemia Database, whose coordinators are Dr . Surrallés-U745 and Dr . Bueren-U710, (together with the Fundación Centro Nacional de Investigaciones Oncológicas- CNIO and the Centro de Investigaciones Medioambientales y Tecnológicas-CIEMAT) .
• E-IMD European registry and network for Intoxication type Metabolic Diseases . Led by Dr . Ugarte-U746 with the participation of Dr . Artuch-U703, Dr . Ribes-U737 and Dr . Rubio-U739 .
• E-HOD European network and registry for homocystinurias and methylation defects . Led by Dr . Couce-U737 with the participation of Dr . Artuch-U703, Dr . Grinberg-U720 and Dr . Pérez-U746 .
• European Registry of Wolfram, Alstrom, Bardet Biedl and other rare diabetes syndromes- EURO-WABB . Led by Dr . Nunes-U730, (together with the Institut d´Investigació Biomèdica de Bellvitge and the Universidad de Vigo) .
• aHUS/C3g registry: Registry of patients with atypical uremic haemolytic syndrome and C3 glomerulopathies . Together with the “Iñigo Álvarez de Toledo” Fundación Renal and Dr . Rodríguez de Córdoba’s group-U738
• Glycogen storage disease type V registry: Dr . Antoni Andreu-U701 and Dr . Miguel Ángel Martín-U723 . .
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