The European Rare Diseases Research Alliance (ERDERA) will be funded with 380 million euros until 2031 to support and boost research, diagnosis and treatment of rare diseases.
 

Led by France's National Institute for Health and Medical Research (INSERM), the ERDERA project brings together 170 public and private sector entities from 37 countries, including universities, research centers, hospitals, health authorities, regulators, public funding agencies, patient associations, medical associations, and pharmaceutical and technology companies. In Portugal, it has the participation of the University of Coimbra (UC), through the Center for Neuroscience and Cell Biology (CNC-UC) and the Centre for Innovative Biomedicine and Biotechnology (CiBB), the Agency for Clinical Research and Biomedical Innovation (AICIB), the National Health Institute Doutor Ricardo Jorge (INSA), and the Foundation for Science and Technology (FCT).
 

Currently, more than 300 million people around the world are affected by one of the approximately 7,000 rare diseases identified to date. In Portugal, it is estimated that these diseases affect between 600,000 and 800,000 people. Diagnosing rare diseases is often difficult and can take years, and around 95% of these diseases currently have no approved treatment. Against this backdrop, and in search of new answers for the diagnosis and treatment of rare diseases, this research and development alliance aims to promote and fund global partnerships and collaborations between various entities, in order to speed up the implementation of viable solutions for the diagnosis and treatment of these pathologies. 
 

The ERDERA project's action strategy is based on four central pillars: 1) funding, to support collaborative research projects, clinical trials and knowledge dissemination activities; 2) clinical research network, to improve diagnosis and clinical trial development, assess the impact of rare diseases and support the development of advanced therapies; 3) support services, to facilitate the collection, integration, analysis and sharing of information on a global scale, to promote more education and training, to offer guidance on specific aspects of translational and clinical research, and to accelerate promising technologies, in partnership with industry; 4) international alignment, to ensure the synchronization of national and international rare disease research strategies, particularly in countries where the development and implementation of national plans for rare diseases are not so advanced. 
 

Out of an estimated budget of 380 million euros, the European Union, within the framework of Horizon Europe, will fund the ERDERA project with 150 million euros, with the remainder being provided by the Member States of the countries associated with Horizon Europe and also by public and private partners. This funding will support the activities promoted under ERDERA's four pillars of action, in favor of a multi-perspective approach to rare diseases.
 

“Rare or orphan diseases cause enormous suffering for patients and their families and have significant costs, and there is a pressing need to develop effective treatments. Concerted action on a European scale is essential to boost the progress of research, diagnosis and treatment of these pathologies. In this sense, within the ERDERA project, the UC will collide the Acceleration area with the patient and family association French Muscular Dystrophy Association (AFM-Téléthon) and the European Infrastructure for Translational Medicine (EATRIS)”, highlights the president of CNC-UC and professor at the UC Faculty of Pharmacy, Luís Pereira de Almeida, who coordinates the UC team involved in ERDERA. “This area of work aims to promote the advancement of gene therapy and advanced therapy drugs, addressing the critical challenges of translating scientific discoveries in this area into clinical applications. As part of the Acceleration area, UC will also lead a working group dedicated specifically to Technology Acceleration, together with the pharmaceutical company Pfizer. This group will focus on optimizing promising technologies in the field of gene therapy. This initiative is in line with the vision of the first Center of Excellence in Gene Therapy in Portugal (Gene T), which is being created in Coimbra,” he adds.
 

“The European Rare Disease Research Alliance (ERDERA), an innovative initiative bringing together 37 countries and different sectors, seeks to revolutionize the rare disease landscape by impacting research, diagnosis and treatment. The Agency for Clinical Investigation and Biomedical Innovation (AICIB), as a leader in the area of 'Aligning inter(national) capacities' and in the work package 'Promoting the involvement of underrepresented countries', plays a central role in coordinating international efforts,” says Anabela Isidro, AICIB board member, adding that “with this participation, AICIB reinforces Portugal's commitment to boosting international collaboration and ensuring that all countries, including the least represented, play an active role in advancing research and developing more effective solutions for rare diseases”
 

“INSA, through its Department of Human Genetics, is part of the WP23 National Mirror Groups Promotion and National Alignment and will be coordinating the Portuguese National Mirror Group (NMG-P). INSA's participation in this group is crucial to ensure national alignment with European policies on rare diseases. A pioneer in Europe, the NMG-P in Portugal stands out for not needing to be created from scratch, unlike other countries, as INSA already brings together the main national stakeholders, such as FCT, DGS, AICIB, RD-Portugal and Orphanet Portugal. This position allows INSA to effectively coordinate national activities with those of ERDERA, reinforcing its visibility and strategic influence on the European and international rare disease scene,” says Sandra Alves, a researcher at the Instituto Nacional de Saúde Doutor Ricardo Jorge.
 

The alliance includes more than 1,400 professionals with experience in areas as diverse as pre-clinical, clinical and translational research; drug development; diagnostic innovation; biostatistics; data science; regulation; research funding, social sciences and humanities; patient involvement and education. The ERDERA project also aims to contribute to the European Union's competitiveness in research and innovation in rare diseases and to the creation of new jobs. 
 

The project's official kick-off event took place earlier this week in Paris. 
 

More information about the European Alliance for Rare Disease Research is available here.

Catarina Ribeiro w/ERDERA