During the day of today and on the occasion of the world day of rare diseases in Catalonia, Vall d'Hebron is home to the 11th edition of the Conference organized by the managing Commission of Rare Diseases in Catalonia.Under the motto "Fem pinya, fem recerca," this year's World Day refers to the importance of research as an engine of change in the current paradigm of minority diseases. It is estimated that one of every four people affected by a rare disease is unaware of the diagnosis. In this sense, the strategic plan for research and innovation in health 2016-2020 (PERIS) defined the rare diseases as a priority thematic area, to which the Department of Health has funded a program of genomics-based personalized neurological medicine of rare diseases that are not diagnosed.This project aims to determine the diagnostic capacity of the genomic analysis of patients with rare diseases and brings together different health research institutes, with the objective of creating a cooperative network so that the centres are prepared for the use of genomics in the clinical practice routine in the area of rare diseases. It is led by the Hospital del Mar Institute of Medical Research (IMIM), and counts with the collaboration of the Fundació Clínic per a la Recerca Biomèdica (IRS-IDIBAPS), the Fundació Sant Joan de Déu, the Bellvitge Biomedical Research Institute Foundation (Idibell), the Vall d'h Hebron Research Institute (VHIR), the Research Institute of the Hospital de la Santa Creu i Sant Pau, the Foundation Centre for Genomic Regulation (CNAG-CRG) and the Global Health Institute of Barcelona (ISGLOBAL).During the opening ceremony of the 11th edition of the World Rare Diseases Day in Catalonia, which was held at the University Hospital of Vall d'Hebron, the director of the Catalan Health Service, David Elvira, stressed that Catalonia addresses rare diseases "with a networking that involves the administration, clinical professionals, patient associations, healthcare centres, industry and private foundations." Elvira also pointed out that these pathologies are rare but "are neither invisible nor forgotten."On the part of the Vall d'Hebron Campus participated, Dr. Guillem Pintos, clinical director of Rare Diseases, who has talked about the ERNS and the organization of the networking work for the benefit of patients, and Dr. César Velasco, Director Management of Integral Information and Care Innovation, who has reflected on the big data and the hopeful future that will bring us innovation in health.New Networks of Units of Clinical Expertise in Rare DiseasesDavid Elvira has explained also that rare diseases are a priority area for the health care plan of Catalonia 2016-2020, in which is set as a unique project the implementation of the Model of care to rare diseases of Catalonia.This model of care is based on the designation of Networks of Clinical Expertise Units (XUEC) and is the result of the identification of needs in a joint work of the Administration, with expert clinical professionals, and associations of patients It is fully aligned with the recommendations and model defined by the European Community, with which it shares objectives and criteria, but places a greater emphasis on the vision of networking within the Catalan territory.During 2017, the first XUEC was designated in cognitive-behavioural genetic disorders in the paediatric age, consisting of three accredited units that are assigned to the Parc Taulí of Sabadell, Sant Joan de Déu in Barcelona and the Vall d'Hebron University. It also formed the Oncology Network of Catalonia to analyze hereditary cancers, which are rare. The goal for 2018 is that it will designate four new networks of clinical expertise on rare, hereditary metabolic renal and neuromuscular diseases, and the network that includes theose immunological, immunodeficiency and autoinflammatory diseases. The rare diseasesRare diseases (RD) are a very large group consisting of more than 7,000 clinical conditions that have a low incidence in the population. As a whole, they can affect 5-7% of the general population: it is estimated that there are about 30 million affected in the European Union, about 3 million in Spain and between 300,000 and 400,000 in Catalonia.80% of these diseases are of genetic origin and are manifested generally during childhood. Early detection is key to ensuring a better quality of life for those affected. In this sense, Catalonia has the neonatal precocious detection program, which has been extended and currently includes 24 rare diseases. During 2017 this program has detected a total of 133 people affected through the heel blood test that is done to the newborns.