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28/02/2017

Vall d'Hebron Campus commited to research in the World Day for Rare Diseases

rares884

28/02/2017

Normal1 Vall d'Hebron Hospital and VHIR participate in the conference organized on the occasion of this day, which has the slogan "With research, the possibilities are endless."

Normal1 The Vall d'Hebron Barcelona Hospital Campus is one of the leading centres in the http://bit.ly/2mflM6E" conference on the occasion of World Day for Rare Diseases, organized by the http://bit.ly/2m2GgPq" Rare Diseases Platform and this year held in the Hospital San Juan de Dios, chaired by Minister of Health, Antoni Comín. Dr. Eduardo Tizzano, director of the Department of Molecular and Clinical Genetics of the Vall d'Hebron University Hospital, head of the http://bit.ly/1oHo4c6" group of Genetic Medicine at Vall d'Hebron Research Institute (VHIR) and member of the Advisory Committee on Rare Diseases (CAMM) of CatSalut and Dr. Ramón Martí, head of the http://bit.ly/2lfPFyF" group of Neuromuscular and Mitochondrial Pathology of VHIR and member of CIBERER, will be two keynote speakers. A recognition will carried out to Dr. Miquel Vilardell, former head of Internal Medicine Service, for his career working on behalf of these pathologies. Normal1 The Vall d'Hebron Campus also has joined the Rare Diseases Recommendations document, published today, promoted by the http://bit.ly/1jwDKH7" Spanish Federation of Rare Diseases (FEDER), signed by sixty organizations, that asks for the promotion of a plan for the development and implementation of a strategy to treat these diseases at the national level. At the same time, it is commited to promote and support the integration and educational inclusion of patients and strengthen social services. Normal1 Normal1 Commitment to research Normal1 The motto of the conference With research, the possibilities are limitless. With it, the organizers want to emphasize the fundamental role that the basic and clinical research has for a better understanding and treatment of these diseases. In this field, the Vall d'Hebron Campus is one of the leading entities, since it is the hospital with more European reference http://bit.ly/2hPXQ78" networks of rare diseases (ERN) in the country. In fact, it participates in 10 of the 24 existing networks, an initiative of the European Commission to join health centres with a high specialization in certain diseases. Its aim is to improve access to diagnosis and treatment, and provide the highest quality care to patients anywhere in Europe. European networks arise from the demands of the associations of patients with rare diseases to be treated in reference centres and to advance research into their diseases. Normal1 In total, Vall d'Hebron professionals participate in European networks of children oncology (PO-ERN), rare endocrine diseases (ENDO-ERN), primary immunodeficiencies (ERN RITA), rare neuromuscular diseases (Neuromuscular-ERN), paediatric kidney and liver rare diseases (ERK-Net), inherited metabolic rare diseases (Metabo-ERN), rare lung disease (Rare Lung Diseases), rare anemias (EURO BLOOD NET), children congenital heart disease (ERN Rare Cardiac Diseases: congenital Heart Diseases), and rare craniofacial anomalies and otolaryngology (ERN Rare craniofacial anomalies and ENT). Normal1 Normal1 Units of Clinical Expertise Network Normal1 Moreover, the Catalan Health Service (CatSalut) has promoted the formation of a specific working group for the announcement and recognition of different http://bit.ly/2lLQJ0B" networks of units of clinical expertise (XUEC) in the Catalan health sector. These XUECs are formed following the approach of European networks with the aim of establishing partnerships, working groups, preparation of protocols for monitoring and treatment in order to get a cross-regional reach in the Catalan health care of these pathologies. The first to be designated is the network of care for paediatrics genetic cognitive-behavioral diseases (MCCBGEP). Three units of clinical expertise make up the network of care in this group of diseases, affiliated to the Hospital Parc Tauli de Sabadell, Hospital San Juan de Dios of Barcelona and the Vall d'Hebron University Hospital. In the course of this year and in the following ones, it is planned to make working groups of experts to convene and appoint other networks of expertise. Normal1 In addition, the Catalan Institute of Health created the Expertise Care Programme (PADEICS) of Rare Diseases and Clinical Genetics to improve collaboration in the diagnosis, treatment and research into rare diseases in their centres. The program is coordinated by Dr. Eduardo Tizzano. Normal1 Normal1 Workshop-school for patients Normal1 Also, every Wednesday, it is still carried out in Vall d'Hebron the first edition of the workshop-school for patients with rare diseases and has the presence of representatives of 20 associations of patients. This initiative is sponsored by http://bit.ly/1jwDKH7" FEDER and organized by the http://bit.ly/1QsSlU8" Department of Clinical Genetics and the Rare Diseases Unit of the centre. Normal1 Normal1 Rare diseases Normal1 Rare diseases are serious diseases, infrequent, and they affect a small number of people. There are more than 7,000 of these diseases, which affect 5 in 10,000 people and may affect 3-4% of newborns. It is estimated that between 6 and 8% of the general population may suffer from these diseases, that is, between 30 and 35 million affected in the European Union. In Spain, there are more than 3 million people with rare diseases and 400,000 in Catalonia. Normal1 80% of these diseases are genetic. They affect various organs and both physical and mental abilities of the patient, their behavior and sensory qualities. They are chronic and usually degenerative.

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