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9 October 2018
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:
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.
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)
- 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
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