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.

 

Related news items


50.000 grant for Paul de Jonge and Harry Dolstra

15 July 2019

Paul de Jonge and Harry Dolstra, theme Cancer development and immune defense, received a €50.000,- (NWA-IDG) grant for their project regarding cancer immunotherapy.

read more

Handbook of biomarkers and precision medicine a new publication by Alain van Gool

12 July 2019

Alain van Gool published a new handbook on biomarkers and applications in (pre)clinical drug development for precision medicine.

read more

The real impact of menstrual complaints on work and school productivity

8 July 2019

Menstrual period symptoms may be linked to nearly nine days of lost productivity every year, through presenteeism, suggests the largest study of its kind, published in the journal BMJ Open. But the real impact on women and society is underestimated and poorly appreciated, say the researchers.

read more

Successful Summer School by CMBI, TML and Human Genetics

8 July 2019

CMBI, TML and Human Genetics organized a successful Summer School on 'Integrative X-omics Analyses Empowering Personalized Healthcare'.

read more

Walking for science Research by Radboud university medical center and Radboud University during the Vierdaagse (Four Day Marches)

5 July 2019

The Vierdaagse is a unique opportunity to conduct research into physical activity and healthy lifestyle.

read more

Summer greetings from René Bindels

5 July 2019

In this last newsletter before the summer break and before I wish you all a happy holiday, I would like to briefly summarize the first half of 2019 and especially look ahead to the interesting activities that will take place in the second half of the year.

read more