
February 29 is celebrated the World's Rare Disease Day. At the Centro de Investigaciones Biológicas Margarita Salas (CSIC) several groups are working in the investigation of some of these diseases, putting all their efforts into achieving treatments to improve the lives of these patients and transfer their research results to society.
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's 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, complications of its diagnosis are added. Therefore, research into these diseases is essential; knowing why they occur is key to developing the most effective 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. This year, we want to commemorate and make this event visible by highlighting our contact with patient associations and giving a voice to our researchers and representatives of the main associations with which we collaborate.
You can learn more about our work on rare diseases in the report "The CIB Margarita Salas and rare diseases: from the laboratory to the patients", which we link here (in Spanish).
This video gathers the main aspects that motivate us for a reciprocal relationship with patients affected by those diseases for which we do research at the CIB Margarita Salas: