9 October 2018

Radboudumc participates in the European Joint Programme on Rare Diseases (EJP-RD), which was recently approved by the European Commission. EJP-RD is an EU-wide and patient-centred initiative to foster rare disease research from bench to bedside and back. The programme, due to launch in January 2019, will receive 55 million EUR over 5 years to establish a comprehensive strategy covering research, data, tools and clinical aspects to increase the efficiency of results use, diagnosis, drug discovery, patient care and to empowering all stakeholders.

As a Cofund initiative, all EJP-RD activities are prioritised and aligned with national-level research strategies, and Member State representatives were instrumental in the proposal design. The EJP-RD consortium, coordinated by Daria Julkowska (Inserm, France) brings together 85 partners and 71 linked third parties from across Europe. Canada, Japan and Australia will also collaborate in the programme.

The EJP-RD program supports the research activities of the recently established European Reference Networks (ERNs) for rare diseases. EJP-RD is open to all rare disease investigators. As representatives of the ERNs, the following Radboudumc researchers are currently most tightly involved in the EJP-RD program:
  • Nicoline Hoogerbrugge (ERN GENTURIS, ERN on genetic tumour risk syndromes)
  • Leo Schultze Kool (VASCERN, ERN on multisystemic vascular diseases)
  • Wout Feitz (ERN eUROGEN, ERN on urogenital diseases and conditions)
  • Han Brunner (ERN ITHACA, ERN on congenital malformations and rare intellectual disability)
  • Baziel van Engelen and Peter-Bram ’t Hoen (ERN EURO-NMD, ERN on neuromuscular diseases)
Jointly, they will work on:
  • Enhancing the FAIRness (Findability, Accessibility, Interoperability, Reproducibility) of rare disease data
  • Increasing interoperability of patient registries
  • The development of infrastructure, tools and services for the integrated analysis of molecular profiles at different levels (genomics, transcriptomics, proteomics, metabolomics)
  • Training of rare disease researchers and outreach to rare disease patients, healthcare providers and other stakeholders
These activities will contribute to the goals defined by IRDiRC (the International Rare Diseases Consortium): All patients with a suspected rare disease should get a diagnosis within one year and 1000 new therapies for rare disease patients should be approved by 2027.


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