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


Rebecca Halbach receives idea generator grant to fight mosquito transmitted viruses

8 July 2020

Rebecca Halbach and Pascal Miesen have investigated in a collaborative project whether the treatment of mosquitoes with antiviral drugs can prevent the transmission of mosquito-transmitted viral diseases.

read more

Invasive fungal infections in influenza and COVID-19

8 July 2020

The Aspergillus fungus is found in the lungs of many COVID patients. A parallel occurs with influenza patients, who often develop a serious fungal infection. Although such a serious fungal infection seems to occur less frequently in COVID-patients, alertness remains necessary,

read more

Werner Koopman 25 years at Radboudumc celebrating online

8 July 2020

Werner Koopman completed his 25 years at Radboudumc. Biochemistry sent him a cake at home and celebrated this special moment during COVID-19 in a unique way.

read more

The Postdoctoral Networking Tour in artificial intelligence

2 July 2020

You are a postdoctoral researcher in the field of artificial intelligence? The Postdoc-NeT-AI offers you the opportunity to participate in one week of on-site visits to leading German universities, research institutes and companies. Apply now to this year's tour until 16 August 2020.

read more

Online conference offers advantages for scientists

2 July 2020

It's not contemporary to fly around the world for every congress. Scientists can also choose the flexi option more environmentally conscious. So the online congress offers advantages, published by Teun Bousema, Estel Colado and Julie Verhoef in De Volkskrant.

read more

Register for PhD courses via gROW What does this mean for you?

2 July 2020

From now on you can arrange everything related to the general RU PhD courses via gROW. Because of this there will be some changes in the registration! What does this mean for you?

read more