February 28 is celebrated as World Rare Disease Day. At the Centro de Investigaciones Biológicas Margarita Salas (CSIC) 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 and transferring 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, 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. It is necessary to know them in order to cure them.
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, our researchers have participated in a video in which they tell us about their projects, what they have been able to transfer to society, and their close relationship with patients: