On February 11, the Parliament Hall of Udine Castle hosted an event for Rare Diseases Day, organized by UNIAMO Federazione Italiana Malattie Rare in collaboration with the Udine University Hospital (Azienda Sanitaria Friuli Centrale-ASU FC) and MetabERN. This initiative was part of the #UNIAMOleforze campaign, featuring over 60 events throughout February to raise awareness of rare diseases and the needs of the more than 2 million individuals affected in Italy.
Continuing the theme from previous editions, this year’s focus was on the concept of “journey,” representing the long and challenging path faced by patients and their families upon encountering their illnesses. The 2025 edition will culminate on February 28, emphasizing the importance of research in all its forms.
In her opening remarks, UNIAMO president Annalisa Scopinaro highlighted the significant strides made in raising awareness about rare diseases over the past four years. “Until recently, only the World Rare Disease Day on February 29 was recognized. Now, thanks to UNIAMO and its associations, events and campaigns are held throughout February,” she stated. Scopinaro noted the importance of including patients in decision-making processes and fostering ongoing dialogue with institutions.
The event also featured various institutional representatives, including Sandra Gallina, Director General of the European Commission’s Directorate-General for Health and Food Safety. She emphasized the collective effort at the European level to address the challenges faced by rare disease patients and highlighted the successes of the European Reference Networks (ERNs).
Debora Serracchiani of the Italian Chamber of Deputies expressed her commitment to advocating for the rights of rare disease patients, reiterating the importance of implementing the National Rare Disease Plan.
The conference included three sessions: the first led by Prof. Maurizio Scarpa, offering an overview of rare diseases in Friuli-Venezia Giulia; the second focused on innovations in diagnosis and treatment; and the third discussed the significance of collaboration between patient associations and institutions.
A roundtable discussion allowed patients, families, experts, and institutional representatives to share insights and experiences.
This initiative underscores the importance of collaboration across sectors, advocating for improved screening, treatment access, and long-term support to ensure that no one is left behind.
