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Search Results for: enfermedades raras
Total Results: 159
Fenilcetonuria: Una campeona olímpica especial y paciente que tiene PKU
VIVIR CON UNA ENFERMEDAD RARA Laura Galluppi: una campeona olímpica especial y paciente de una enfermedad rara En los Juegos Olímpicos Especiales de 2007 celebrados en Shanghai, Laura Galluppi, de 21años, ganó una medalla de oro y dos de bronce en la Competencia ecuestre. Esta guapa joven, con una gran sonrisa mientras luce sus […]
Aniridia: Cumplir un sueño
VIVIR CON UNA ENFERMEDAD RARA La vida de Daniel con Aniridia Daniel Sánchez de Vega fue diagnosticado de Aniridia cuando tenía una semana de vida. Al estar también afectada su madre Rosa, el diagnóstico se hizo enseguida. Aniridia, que significa ‘sin iris’ es una enfermedad genética rara que se caracteriza por la formación incompleta del […]
Dismelia: Sueco víctima de la talidomida
Retrato de un militante europeo: Björn Håkansson, sueco víctima de la talidomida Björn Håkansson, presidente de la Sociedad Sueca de la Talidomida ONG (FfdN), nació en Suecia en 1960 con dismelia, una malformación que le ha producido un desarrollo anormal de los brazos, con 3 dedos en cada mano (sólo puede utilizar dos de […]
Charting the Future: Valentina Bottarelli on Shaping an EU Action Plan for Rare Diseases
Valentina Bottarelli discusses the need for a unified EU Action Plan for Rare Diseases, with the EU elections on the horizon.
Daniel De Vicente
Daniel de Vicente has been a vocal member of the FEDER Board of Directors since 2020 and president of the Association of Patients with ASMD (Niemann-Pick B, A, A/B Acid Sphingomyelinase Deficiency) created in 2019. At the international level, he is a European expert of the EMA (European Medicines Agency) and Research Liaison Officer of […]
Network of Parliamentary Advocates for Rare Diseases
The Network of Parliamentary Advocates for Rare Diseases is an informal group of European and national members of parliament advocating for the improvement of the lives of people living with rare diseases. Through the network, EURORDIS aims to bring together members of parliament to ensure strong international and local action, shape political input for current […]
Rare disease helplines
People living with a rare disease are frequently faced with a critical lack of information and support. Upon hearing their diagnosis, their first point of contact is often the local patient organisation for their diseases. If a patient organisation does not exist in their area or cannot supply the correct, validated information, the patient is […]
Article: Share and protect our health data
EURORDIS announced results from the first multi-country survey on rare disease data sharing and protection, published in an article in the Orphanet Journal of Rare Diseases by EURORDIS and the School of Social Sciences of Cardiff University. (July 2019) English Share and protect our health data Spanish Share and protect our health data
Busy Agenda for 2015 Membership Meeting in Madrid
The 2015 EURORDIS Membership Meeting (EMM) will take place in Madrid from 29 - 30 May. Organised in a different European city each year, the EMM provides 200 attendees, made up of mainly patient organisation representatives, plus healthcare professionals and policymakers, with the opportunity to network, share best practices and take part in workshops. The two day event, organised in collaboration with FEDER, the Spanish National Alliance for Rare Diseases, will begin with the General Assembly, during which the EURORDIS 2015 – 2020 Strategy will be presented. At this stage, four directors will also be elected to the EURORDIS Board of Directors. The Meeting will then be broken down into several plenary sessions, the first of which will focus on European Reference Networks (ERNs) and will address issues such as how to set up and organise ERNs, as well as how to involve patients in their development. Next, four breakout sessions will take place, during which patient representatives will discuss the organisation of ERNs by therapeutic areas. The Plenary Session on Saturday morning will look at outcomes of national conferences and how existing or promising positive options in national plans or strategies can inspire other countries.