Can Ruti celebrates a Rare Disease Day symposium highlighting the importance of research to help patients
On Thursday 29 February, the Germans Trias Hospital hosted the 'International Rare Disease Day Symposium'. Health professionals and researchers from the Hospital and the Germans Trias i Pujol Research Institute (IGTP) discussed their work in advancing the field of rare diseases. Representatives from patient associations of these diseases also participated.
The event was opened by Jordi Barretina, director of the IGTP; Julia García-Prado, scientific director of the IGTP; Josep Maria Mòdol, clinical director of the Hospital; Ignacio Blanco, director of the Metropolitan Clinical Laboratory and the Clinical Genetics Program-Rare Disease Committee of the Hospital and co-leader of the Clinical Genomics research group at IGTP; and Elisenda Cortès Saladelafont, a neuropediatrician at the Hospital's Neuropediatrics, Rare and Metabolic Diseases Unit and chair of the Rare Disease Committee.
Barretina noted that rare diseases often do not receive the attention they deserve: "Research in this field fosters collaboration, critical mass, and expertise. Additionally, many of the learnings can be applied to more common diseases". He added, "We are at a very exciting time in the field of new or emerging advanced therapies, and it is possible that they could be applied to rare diseases".
For her part, García-Prado emphasised that, like in other research areas, rare diseases must "focus on research, clinical practice, and the patient to find solutions".
The symposium featured an opening talk by paediatricians Lluís Anton Subirana and Jacques G. Rivière, as well as five sessions with presentations from patient association members and professionals studying or treating rare diseases. These sessions were followed by discussions on the topics covered among the participants and the audience.
The IGTP was represented by six researchers who had the opportunity to share their research on various lesser-known diseases with significant impacts on patients:
- Carolina Armengol Niell. Working towards precision medicine in paediatric liver cancer, one case in a million.
- Agustí Rodríguez-Palmero. PNPT1 as a model of interferonopathy.
- Marta Vives-Pi. Immunotherapy for autoimmune minority diseases.
- Eduard Juanola Mayos and Eva Coll. Translational research in myotonic dystrophy for the development of an advanced RNA-based therapy.
- Raquel Guillamat Prats. New therapeutic strategies for idiopathic pulmonary fibrosis.
The event was concluded by Ignacio Blanco, Elisenda Cortès Saladelafont, and Rosa del Amo Hernández, Deputy Mayor and Head of Communication, European Funds, and People's Protection at the Badalona City Council. They highly praised the talks and discussions of the day and expressed hope that the efforts of the Can Ruti professionals would lead to improvements for patients.