On November 22nd, 2018, the National Symposium on Rare Diseases "New Advances in Rare Diseases: from Confusion to Hope" took place at the Biology Research Center (CIB-CSIC). The event brought together the whole spectrum of agents involved in the study of rare diseases, such as the official bodies -represented by CIBERER and the FEDER Foundation- the medical healthcare professionals, the scientists who investigate in this important area of biomedicine and the patient associations.
The complexity of rare diseases exponentially multiplies the daily problems of patients and complicates the advances in knowledge obtained by researchers. In this context, it was highlighted the importance of associationism, which favors a close collaboration between patients, health and scientists, in a multidisciplinary research environment that allows to advance in a more efficient way in the hope of understanding rare diseases and find more promising solutions as soon as possible.
In the course of the day, fundamental aspects were approached such as the number of clinical and research groups involved in the study of rare diseases in Spain, as well as the future perspectives for patients and the objectives marked with the associationism, fruit of the union of different research groups, each day more involved. The researchers highlighted the vital role of different molecular biology techniques for the understanding of diseases, presenting signaling mechanisms of different rare diseases and others which are not so rare, and the new therapies that are already being tested in the different stages of searching for a drug in vitro, in vivo and in clinical trials.
Healthcare professionals highlighted the need for a better understanding with patients and the importance of supporting them in their day to day in difficult situations, vital for moving forward in the treatment of their disease. The most personal approach presented by the patient associations was not neglected, they emphasized the need to accelerate the diagnosis of these diseases as well as speeding up the search for new medicines, an aspect in which much emphasis was placed on the importance of the repositioning of drugs, as a quicker alternative to enter clinical trials and to be able to put the medicine as soon as possible in the hands of these patients.
The opening ceremony of the National Symposium on Rare Diseases "New Advances in Rare Diseases: from Confusion to Hope" was attended by Teresa Suárez, Vice Director of CIB-CSIC, Pablo Lapunzina, Scientific Director of CIBERER, Santiago de la Riva, Vice President of FEDER and Luisa Mª Botella, scientific researcher in CIB-CSIC and Coordinator of the event.
The full program of the day can be found in this link.