" partnership essential for us to move forward with a comprehensive approach to rare diseases."

Rare or uncommon diseases are those that have a leave in the population. It is estimated that there are more than 7,000 rare diseases, meaning that their total incidence exceeds 300 million people worldwide, 3 million of whom are in Spain. To mark Rare Disease Day, patients, clinical specialists, and researchers have gathered at Cima of Navarra to exchange experiences related to these pathologies.

"There are different profiles of development , how they accept development , and how development , which means that each person deals with it differently. Despite the physical and mental health impact, we face each day with hope that research clinical care will improve our quality of life," explained Adrián Elizalde, president of group Rare group Navarra (GERNA).

During the meeting, Dr. Laura Castañeda, a specialist from the Nephrology Department at the Clínica Universidad de Navarra and an expert in hereditary kidney diseases, explained that "the approach to this subject diseases is much more complex than that of other pathologies, given its global implications, not only for the patient but also for their family. Fortunately, we have more and more work groups, made up of clinicians and researchers, who provide a comprehensive view of the disease."

Listening to the patient
One of the messages emphasized by participants at this meeting was the need for partnership professionals and patients. As noted by Dr. Rubén Hernández, researcher  Gene Therapy for Congenital Encephalopathiesgroup Cimagroup, "it is essential to listen to patients and understand their needs in order to better guide our lines of research."

In this regard, Dr. Nerea Zabaleta, a researcher at the Gene Therapy Program for Rare Diseases at Cima, emphasized the importance of strengthening partnership patient associations. "We feed off each other. We can offer them up-to-date information on the current state research their disease, and they provide us with their first-hand experience, which is vital for advancing the study of rare diseases."