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


Dutch Cancer Society Grant received by Annemiek van Spriel and Laia Querol-Cano

23 September 2020

Annemiek van Spriel and Laia Querol-Cano received a Dutch Cancer Society Grant of 700K euros to study the cancer cell surface in immunotherapy.

read more

Tumor cells stimulate lipid biosynthesis in macrophages

23 September 2020

RIMLS researchers wrote in the Journal of Immunother Cancer that improved lipid biosynthesis in human tumor-induced macrophages contributes to their protumoral characteristics.

read more

Frank Walboomers 25-years work anniversary at Radboudumc

17 September 2020

Frank Walboomers, associate professor at the research group Regenerative Biomaterials at the Dept. of Dentistry (theme Reconstructive & Regenerative Medicine), celebrated his 25th work anniversary at Radboudumc.

read more

Tjitske Kleefstra appointed endowed professor of Clinical genetics and psychopathology of rare syndromes

17 September 2020

Tjitske Kleefstra has been appointed endowed professor of Clinical genetics and psychopathology of rare syndromes at the department of Neurodevelopmental disorders, with effect from 1 September.

read more

Annette Schenck appointed professor of Translational Genomics of Neurodevelopmental Disorders

17 September 2020

Annette Schenck has been appointed professor of Translational Genomics of Neurodevelopmental Disorders. with effect from 1 August. The chair will bring together fundamental and translational research in the field of brain developmental disorders.

read more

Centuries-old medicine reduces the risk of new cardiovascular disease in heart patients

17 September 2020

Colchicine, an anti-inflammatory drug that has been used for gout for centuries, has been shown to prevent cardiovascular disease in patients who have had a heart attack or are suffering from narrowed coronary arteries. Results of the study are published in the New England Journal of Medicine.

read more