Can Ruti reaffirms its commitment to rare diseases in an interdisciplinary event
On Friday 28 February, the Germans Trias i Pujol University Hospital (HUGTiP) and the Germans Trias i Pujol Research Institute (IGTP) held a new edition of their event to mark Rare Disease Day. The event, hosted at IGTP, brought together healthcare professionals and researchers to share knowledge and experiences in the field. The program also included the patient perspective in the final part of the event.
The session was opened by Julia García Prado, scientific director of IGTP; Ignacio Blanco, director of the Clinical Laboratory of Metropolitana Nord and Head of the Genetics Unit at HUGTiP; Carlos Rodrigo, professor of Paediatrics at Universitat Autònoma de Barcelona and chair of the Rare Disease Committee at HUGTiP; and Mariya Sigatullina, paediatric neurologist and rare disease specialist at HUGTiP.
During her speech, García Prado highlighted that "rare diseases represent a scientific and medical challenge that we can only tackle through research and collaboration. This event exemplifies how the combined efforts of researchers, clinicians, and patients can lead to significant advances in diagnosis and treatment". She added: "At IGTP, we reaffirm our commitment to translational research, working to ensure that scientific knowledge translates into the development of advanced therapies for curing these diseases, particularly advances in gene and cell therapy. Every breakthrough has a direct impact on the lives of those affected, which is why we drive projects based on scientific excellence and collaboration between all stakeholders".
A shared vision between clinical and research teams to improve rare disease treatment
The event featured a diverse range of presentations divided into three sessions. The first session included contributions from Alfonso Oyarzabal (Sant Joan de Déu Research Institute and Hospital), Roser Pons (Agia Sofia Hospital, University of Athens), and Mireia del Toro (Vall d'Hebron University Hospital), who shared their expertise on various aspects of rare diseases, from neurological disorders to neurometabolic conditions.
The second session focused on clinical cases, mainly in paediatrics, with doctors from HUGTiP. Guillem Pintos, paediatrician at Vall d'Hebron Hospital and Research Institute (VHIR) and a member of the IRDiRC consortium, also shared his experience in this field.
The final session, dedicated to research in translational medicine, featured several IGTP researchers:
- Antoni Matilla Dueñas. Gene therapy for Friedreich's ataxia.
- Mònica Suelves. HDAC11, a new therapeutic target to alleviate DMD symptoms.
- Gisela Nogales Gadea and Sebastián Figueroa. DM1-Hub: creating a comprehensive node for Myotonic Dystrophy Type 1 in Spain.
- M. Manuela Barranco. Translational research in a rare paediatric cancer: hepatoblastoma.
Other healthcare professionals and patient representatives also took part in the event. Jordi Cruz Villalba and Anna Ripolla, from the Fundación Española de Enfermedades Raras (FEDER), explained the vital role of patient associations in raising awareness of rare diseases. Before the event concluded, Ismael and Olga, from the Associació de Malalties de Neurotransmissors De Neu, shared their experiences as patients.