David Pacheu, researcher member of the BIFI, coordinated and presented the Round Table on Rare Diseases: testimonies from and for Huesca.

On the 12th of February, David Pacheu participated as coordinator in the interesting Round Table on Rare Diseases: Testimonies from and for Huesca. It was organised by the Instituto de Estudios Altoaragoneses, with the support of the Centro de Investigación Biomédica en Red de Enfermedades Raras, and its aim was to provide first-hand knowledge of the data known about rare diseases in the province of Huesca, as well as the point of view of some of the associations present in our territory, their difficulties and their needs. The programme is available here.

David Pacheu Grau is a Ramón y Cajal researcher in the Biogenesis and Mitochondrial Pathology Group. He is a researcher member of the IUI BIFI and carries out his research at the Faculty of Health and Sport (Huesca) and the Faculty of Veterinary Medicine (Zaragoza) of the University of Zaragoza.

Rare diseases are those with a low prevalence in the population. To be considered rare, a disease must affect a limited number of people: less than five per 10,000 inhabitants. However, there are many people in the world who live with them: more than three hundred million, three of them in Spain, according to the Spanish Federation of Rare Diseases.

It is estimated that there are more than seven thousand rare diseases, of which more than eight hundred remain to be identified according to Orphanet data. On the website of this resource created to improve knowledge about rare diseases, their diagnosis and the care and treatment of patients with these diseases, it is stated: ‘Rare diseases are in the minority, but their patients are numerous’.