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CIBERER dissemination activities aimed at patients and society
The specific event in which CIBERER addresses patients and society as a whole is undoubtedly the Rare Diseases Day, entitled “Investigar es Avanzar” . This 2014 edition, took place in the Centro de Investigación Príncipe Felipe de Valencia . Researchers of the CIBERER assessed the high importance of rare disease registries in which they are participating on a European level, specifically in rare metabolic diseases, a model of research on RDs was presented to help fight against a disease as prevalent as sepsis, and furthermore the benefits of the collaboration between researchers and patients were explained in the case of the Cushing syndrome and Williams syndrome . Furthermore, the Federación Española de Enfermedades Raras (FEDER) presented its integral activities and also its collaboration with the Universitat de València . Finally, the documentary “Raras pero no invisibles”, created to disclose Spanish research in this type of pathologies, was presented .
The research activity that is performed in CIBERER reaches society through events that the RD associations or the CIBERER groups working hand in hand with them organise, among other activities the following should be noted:
• The Asociación de Ayuda a Personas con Albinismo (ALBA) organised the “2nd European Days of Albinism” in Valencia the 5 and 6 April . CIBERER U756 led by Dr . Lluís Montoliu collaborated in this encounter .
• The nutritionist Cristina Montserrat and Dr . Maria Forga, of Hospital Clínic de Barcelona and of the Adult Metabolic Disease Work Group, together with HSJD and the CIBERER, organised the 1st Edition of the Cooking workshop for young patents and adults requiring a protein- restricted diet on 27 September, that furthermore counted on the collaboration of the Asociación Catalana de Fenilcetonuria y Trastornos Metabólicos Hereditarios .
• CIBERER collaborated in the organisation of the Meeting of Family members with Williams Syndrome through Dr . Jordi Rosell, leader of the CIBERER Linked Clinical Group, in Hospital Son Espases de Palma de Mallorca . Dr . Luis Pérez Jurado (U735) participated in the encounter which took place on 15 November .
• The Dr . Laura Audí and Dr . Diego Yeste-U712 participated in the XIV GrApSIA Encounter held on 22 November in Barcelona which this association that supports young people and adults with Androgen Insensitivity Syndrome (AIS) and others related syndromes organised .
• The Associación Española de Afectados por Acromegalia held its 4th National Encounter on 13 and 14 December in Madrid and it also included the collaboration of the CIBERER . In this event, Dr . Susan Webb and Dr . Eugenia Resmini, both of U747, were present .
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CIBERER » Annual report 2014