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February 28 is World Rare Disease Day. At the CIB Margarita Salas, there are several groups working on the investigation of some of these diseases, putting all their efforts into achieving treatments to improve the lives of these patients.
Rare diseases are a group of diseases that affect a very small part of the population, less than five per 100,000 inhabitants. According to WHO, these pathologies affect 7% of the world population, and it is estimated that in Spain there are more than three million people with rare diseases. In addition to the difficult and sometimes non-existent treatment, complication of its diagnosis is added. Therefore, research into these diseases is essential; knowing why they occur is key to developing the more effective possible treatments and diagnostic methods.
At the CIB Margarita Salas, we are working on several projects aimed at understanding their molecular basis and contributing to the cure of these diseases.
Why research in this field is necessary? What requirements are needed for the research to be carried out? What should be improved in the field? Our researchers Luisa Botella, Ana Martínez, Catalina Hernández, Dolores Pérez-Sala, and those responsible for the Complement Molecular Genetic Diagnosis Service answer these questions in this video: