The scientific symposium “Rare Diseases: From Research to Clinical Application and Therapies” was held on March 29, 2025, at the Ettore Majorana Foundation in Erice, Sicily. Organized by the Order of Biologists of Sicily, the event brought together a wide range of national and international experts to discuss the latest developments in genetic research, clinical management, and innovative treatments for rare diseases.
The day opened with institutional greetings from key figures representing scientific and healthcare institutions, including Prof. Alessandro Pitruzzella, Sen. Vincenzo Danna and Prof. Francesco Cappello.
The scientific program, structured in two sessions, included presentations on genetic syndromes, molecular mechanisms, and emerging therapies. Prof. Maria Piccione, Scientific Director of the event and Head of the Medical Genetics Unit at AO Villa Sofia-Cervello in Palermo, provided an in-depth overview of the evolution of rare disease management in Sicily, highlighting future perspectives on early diagnosis, integrated care and clinical innovation.
Among the keynote contributions, Prof. Pier Paolo Pandolfi, CEO and CSO of the PTEN Research Institute, presented his talk “PTEN Resurrection for PHTS and Cancer Prevention and Therapy”, outlining the latest findings on PTEN gene reactivation strategies and their potential impact on cancer prevention and treatment of PTEN Hamartoma Tumor Syndrome (PHTS).
Other speakers included Prof. Enrico Bertini (Bambino Gesù Children’s Hospital), Prof. Giuseppe Merla (University of Naples Federico II), Prof. Ivana Trapani (TIGEM) and Dr. Nino Cartabellotta (GIMBE Foundation), who offered a multidisciplinary view of the challenges and advances in the field of rare diseases.
The symposium provided an important platform for dialogue and knowledge exchange, strengthening collaboration among research institutions, clinical professionals and public health stakeholders.
