Major boost for international projects on rare disease research 360 million euros for partnership ERDERA, including Radboudumc

7,000 known rare diseases (RDs) affect more than 300 million people worldwide, 30 million of them in Europe. For 95% of those affected, there are no therapy options, and about 50% of all patients still lack a confirmed molecular diagnosis. ‘ERDERA’, the new EU research partnership brings together all relevant stakeholders from the RD field. Radboud university medical center is involved in this partnership.

‘ERDERA’ stands for ‘European Rare Diseases Research Alliance’. The goal is to improve the health and well-being of the 30 million people living with a rare disease in Europe through better prevention, diagnosis, and treatment options. The program is planned for seven years with a total budget of 360 million euros.

ERDERA builds on structures and insights from previous initiatives, including the European Joint Programme on Rare Diseases (EJP-RD) and Solve-RD, a research program for diagnosing rare diseases that has been co-led by Radboud university medical center and the University of Tübingen for the past six years.

175 institutions from 37 countries are involved in ERDERA. The partnership is coordinated by INSERM, the French National Institute for Health and Medical Research. With its long history in rare disease research, Radboudumc is a prominent partner in ERDERA leading several work packages and tasks. ERDERA is jointly funded by the European Union through Horizon Europe, the European Framework Program for Research and Innovation, and the respective partner countries.

A specific focus of the activities of Radboudumc lays in the Clinical Research Network (CRN), particularly the efforts led by Lisenka Vissers in close collaboration with Christian Gilissen and Richarda de Voer. These efforts include the systematic re-analysis of >100,000 datasets from yet undiagnosed RD patients and their families to find the molecular diagnosis – all building on a leading role of these scientists in the previous EU RD project Solve-RD. Alexander Hoischen aims to bring the latest innovations in genomics, such as long-read sequencing and optical genome mapping, to clinical use, ultimately to accelerate the time to diagnoses for many RD patients and families.

Other tasks Radboudumc has a prominent role in are coordinated by Peter-Bram ’t Hoen and Bruna dos Santos Veira as leader of the European rare disease data steward team. In EJP-RD they worked on the construction of a virtual platform that gives access to numerous resources and databases that are important for rare disease research. Now, it is the time to optimally facilitate preclinical and clinical researchers in their hunt for new diagnoses and therapies.

Lisenka Vissers, Professor for Translational Genomics at Radboudumc: ‘The combined expertise of clinicians, diagnosticians, bioinformaticians and fundamental researchers as brought together in the CRN is key to finding new diagnoses for patients with RD that would have otherwise remained unresolved.’

Alexander Hoischen, Professor for Genomic Technologies for Immune-Mediated and Infectious Diseases at Radboudumc: ‘It is great we can build on the successful infrastructures and network of experts set-up in Solve-RD. This large-scale European initiative shall allow to bring latest innovations into rare disease clinics all across Europe.’

Peter-Bram ’t Hoen, Professor of Bioinformatics at Radboudumc: ‘My dream for ERDERA and the rare disease community in Europe is that we can optimally use the data collected by clinicians during routine care and the data collected by patients themselves for new discoveries. Artificial Intelligence is going to play an important role, but we will need to implement these new technologies in a transparent and responsible way, safeguarding the privacy of patients. ‘

‘ERDERA is the largest project of its kind and a scientific and research structural milestone,’ says Dr. Holm Graessner, Managing Director of the Center for Rare Diseases in Tübingen and Co-Leader of CRN in ERDERA. ‘Together with our partners, we want to scale up the successful re-analysis of unsolved exome and genome data, as we developed in Solve-RD, and elevate it to a new scientific and pan-European level.’