The Germans Trias rare disease symposium promotes coordinated work between the laboratory and the clinic

The Rare Disease Day Symposium of the Germans Trias i Pujol University Hospital and Research Institute (HUGTP, IGTP) has become a key event for sharing knowledge and experiences around these conditions. Once again, clinicians, researchers and representatives of patient associations came together to reflect on the current situation and the main challenges linked to rare diseases, as well as to strengthen coordination between healthcare and research settings.

The conference, entitled "Walking together from research to clinical practice", took place yesterday throughout the day in the Hospital's assembly hall. It was opened by Melania Martínez Morillo, medical director of HUGTP; Ignacio Blanco, clinical director of the Laboratori Clínic Metropolitana Nord and head of the Clinical Genetics Service at HUGTP; Julia García Prado, scientific director of IGTP; and Mariya Sigatullina Bondarenko, from the Neuropaediatrics Unit and Rare Diseases lead at HUGTP.

García Prado highlighted that "in rare diseases, collaboration is more vital than ever. We must continually build bridges between basic, translational and clinical research in order to move forward and provide answers for patients". She also stressed that "these conferences are essential for sharing experiences and generating new synergies that ultimately translate into diagnostic and therapeutic improvements".

The event was structured into three sessions: an initial block with expert presentations, a second featuring presentations of several clinical cases, and a third focused on research in the field of translational medicine. IGTP researchers took part, some of whom also carry out clinical activity at the Hospital:

• Gisela Nogales Gadea, Eduard Juanola Mayos, Sebastián Figueroa Bonaparte, Daniel M Borràs - Badalona Neuromuscular Research Group (GRENBA). New research lines in Steinert disease from the GRENBA group.
• Andrea Ros - Clinical Genomics Unit (UGC). Genetic counselling in rare diseases.
• Agustin Rodriguez-Palmero - GRENBA. Multidisciplinary follow-up of paediatric patients with NF1.
• Marta Murillo - Immunology of Diabetes. Rickets in paediatrics: vitamin D is not always the cause.
• Fredzzia Graterol Torres - Research in Kidney Affecting Diseases Group (REMAR). Update on the treatment of polycystic kidney disease and new guidelines.
• Elisabeth Castellanos - UGC. New genomic tools to improve genetic diagnosis and gene therapies for neurofibromatoses and schwannomatoses.
• Antoni Matilla Dueñas - Neurogenetics Unit. Clinical and genetic heterogeneity in hereditary ataxias: from genes to therapies.
• Roger Domènech - Immunology of Diabetes. Translational development of an immunotherapy for myasthenia gravis.
• Federico Vázquez San Miguel, Mireia Jordà - Endocrine Tumours (E.T.). Update on anaplastic thyroid cancer: rapid diagnosis and targeted treatments.
• Mònica Suelves - GRENBA. Reducing fibro/adipogenesis as a therapeutic approach to improve regeneration and muscle function in Duchenne muscular dystrophy.

The Rare Diseases Day of the Germans Trias i Pujol Hospital and Research Institute aims to promote knowledge and awareness of rare diseases, as well as to encourage the exchange of experiences among healthcare professionals, researchers, patient associations and people affected. It provides a space for reflection and dialogue aimed at advancing research, comprehensive care and coordination between the different specialists involved.

This year, it counted on the collaboration of Vall d'Hebron Hospital and Research Institute, the Federación Española de Enfermedades Raras (FEDER), Federació Catalana de Malalties Minoritàries, Universitat Autònoma de Barcelona and MPS Lisosomales. It also received support from Takeda, Sanofi and Alexion.