AELMHU, represented by Beatriz Perales, participated in the second edition of Únicas Talks, 'Priorities in rare diseases', a meeting organized by the Hospital Sant Joan de Déu and the "la Caixa" Foundation that brought together specialists in rare diseases to discuss the latest advances and trends.
Dr. Manel del Castillo, managing director of the Hospital Sant Joan de Déu Barcelona thanked, during the inauguration, the participation of experts from the research, clinical and regulatory fields, as well as government representatives and representatives of patient and family associations in a forum designed to discuss the priorities to be addressed to deal with rare diseases.
The event, which was supported by the Spanish Federation for Rare Diseases (FEDER), was also attended by representatives of some of the 30 hospitals that are part of the Únicas Network.
The day continued with several round tables, each focusing on key issues for the advancement of rare diseases:
In the first one, under the title 'Value and impact of early diagnosis', Carmen Sever, mother of a patient affected by leukodystrophy, intervened. Juan Carrión Tudela, president of DGENES, FEDER and ALIBER and Estrella Mayoral Rivero, head of the direct care area of FEDER.
Dr. Julio Zarco Rodríguez, Managing Director of the Hospital Infantil Universitario Niño Jesús, moderated a debate focused on the importance of early diagnosis to improve the prognosis of rare diseases and how it can impact the quality of life of patients.
Dr. Pilar Sánchez-Pobre Bejarano. Pilar Sánchez-Pobre Bejarano, Deputy Manager of Healthcare Management and Organizational Innovation and Functional Coordinator of the ÚNICAS Project and the Genomics Reorganization of the Regional Ministry of Health of the Community of Madrid was in charge of moderating the debate 'Advances in digital transformation and new technologies', which included the participation of Noemí Cívicos Villa, General Director of Digital Health and Information Systems for the National Health System, José María Veganzones Alonso-Cortés, Deputy Director of Planning, Operations and Services of the Regional Ministry of Health of the Community of Madrid, Director General of Digital Health and Information Systems for the National Health System, José María Veganzones Alonso-Cortés, Deputy Director of Planning, Operations and Services of the Directorate General of Digital Health of the Community of Madrid and Carlos Gallego Perez, Director of Digital Transformation, Fundación TIC Salut i Social de la Generalitat de Catalunya.
This roundtable explored the technological innovations that are transforming the approach to rare diseases, as well as the challenges and opportunities that are currently being presented.
During the third round table, 'Projects and programs of Genomic Medicine for diagnosis', we were able to listen to: Dr. Marina Pollán, Director of the Instituto de Salud Carlos III, Dr. Mari Luz Couce, Head of the Neonatology Service and Director of the Metabolic Unit of the Hospital Clínico Universitario de Santiago de Compostela, Professor of Pediatrics at the University of Santiago de Compostela and Scientific Director of IDIS, Dr. Pablo Lapunzina, Head of the Research Group at INGEMM, Hospital Universitario La Paz and Scientific Director of CIBERER and Dr. Fernando Santos Simarro, Assistant Physician of the Molecular Diagnostics and Clinical Genetics Unit of the Hospital Universitario Son Espases, Fundación Instituto de Investigación Sanitaria Islas Baleares (IdISBa), and President of the Spanish Society of Clinical Genetics and Dysmorphology (SEGCD).
All of them, moderated by Dr. Encarna Guillén, Strategic Director of the Proyecto Únicas SJD, Head of the Genetics Area of the Hospital Sant Joan de Déu Barcelona and President of the Spanish Association of Human Genetics, in a space that has opened the debate on the great importance of genomic medicine for the diagnosis of rare diseases.
Our president, Beatriz Perales, participated in the last round table of the day, entitled "Development and access to new therapies", together with Dr. José María Moraleda, coordinator of the Spanish Network of Advanced Therapies, and Dr. Juan Bueren, director of the Biomedical Innovation Unit of CIEMAT, IIS Fundación Jiménez Díaz and CIBERER, moderated by Dr. Alessandra Magnani, director of the Platform for Advanced Therapies and Immunotherapy of the Hospital Sant Joan de Déu Barcelona.
During her speech, the president valued the results obtained from the "Annual Report on Access to Orphan Drugs in Spain 2024", carried out by our Association, and that it is a real responsibility to know that they have become the main reference for data on access to orphan and ultra-orphan drugs.
He also highlighted the opportunity for collaborative work and the search for consensus among all the actors involved in the approach to minority pathologies and access to orphan drugs as key points for future legislative development. Above all, through the improvement of bureaucratic processes, the adjustment of evaluation and financing models and the speeding up of access times to treatments. He also took the opportunity to stress the need for Spain to have a new pricing and financing model that takes into account the specificity of orphan drugs in Spain and that facilitates earlier and more equitable access for all patients with rare diseases, regardless of their place of residence. In doing so, he highlighted the work carried out by AELMHU to seek solutions that favor innovation, improve waiting times and promote a constant dialogue between the administration, the industry, healthcare professionals and patients with the aim of guaranteeing that treatments reach those who need them most.
On the other hand, Dr. Miquel Pons, deputy manager and medical director of Hospital Sant Joan de Déu Barcelona, and Ms. Almudena Quintana, general care director of the Madrid Health Service, were in charge of closing this unique forum for dissemination and debate, in which we were able to hear the latest advances, points of view and trends in patient-centered clinical management, as well as progress in the diagnosis and development of therapy for rare diseases.
From AELMHU, we would like to thank Únicas Talks for the opportunity to participate in this valuable forum, and all the speakers and attendees who contributed to the success of this event. Collaboration and working together are essential to continue advancing in improving access to treatments for patients with rare diseases.
