GENTURIS is a European Reference Network (ERN) for all patients with one of the rare genetic tumour risk syndromes (genturis). These patients are at very high hereditary risk of developing multiple tumours, which are often located in multiple organ systems. In case they are diagnosed with cancer they need different treatment and follow-up as compared to non-hereditary cancers. In addition GENTURIS takes care of the relatives of these patients, for which prevention and early detection of tumours is of great importance too.
WHAT IS OUR MISSION: To inspire hope and contribute to health and well being by organizing and providing the best care to every patient in Europe with a genetic tumour risk syndrome through integrated multidisciplinary healthcare, guidelines, education and research.
WHAT IS OUR DESIRED END-STATE: Striving to be the world’s leader of genetic tumour risk syndromes in patient participation, clinical care, research and education.
The ERN GENTURIS is addressing the following challenges when it comes to the identification, genetic testing, tumour prevention and treatment of patients with genturis: 1) Great majority of genturis patients are not yet identified 2) Large variation in clinical outcomes resulting in impaired prognosis and avoidable costs 3) Guidelines are lacking or implemented insufficiently 4) Almost no patient registries and biobanks 5) Limited research programs 6) Fragmented patient empowerment activities.
There are 4 thematic groups of syndromes: 1: Neurofibromatosis type 1, 2 & Schwannomatosis. 2: Lynch syndrome & polyposis. 3: Hereditary breast & ovarian cancer. 4: Other rare - predominantly malignant - syndromes. This group includes syndromes not covered in the other groups. It is a heterogeneous group with very small numbers of patients that will benefit greatly from a centralized approach. Within the next years not yet covered as well as newly discovered genturis will be included as well.

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Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources or expertise, as in the case of rare diseases, on the basis of criteria to be established under Directive 2011/24/EU.
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The ERN BOND brings together all rare diseases, essentially congenital, chronic and of genetic origin, that affect cartilage, bones and dentin. This large field may be shared in two main categories, skeletal dysplasia and metabolic bone diseases. These 2 categories themselves are subdivided in several thematic and sub thematic groups.
The main ambition of the BOND ERN is to implement measures that facilitate multidisciplinary, holistic, continuous, patient-centred and participative care provision to people living with rare bone diseases (RBD), supporting them in the full realisation of their fundamental human rights. In particular, BOND ERN aims to ensure that people living with a RBD are afforded the same standards of care and support as the ones available to other citizens with similar requirements. To meet this goal, BOND ERN gathers European professionals highly specialized in the field of RBD for both scientific research and multidisciplinary care to increase knowledge on RDs, to improve healthcare quality and patient safety, to increase access to ultra specialized medical expertise and accessible information beyond national borders, in accordance with Directive 2011/24/EU.
BOND ERN aspiration is to support patients affected by rare bone diseases and their families, to increase their capacity to undertake a participative role in care provision, to set priorities and to participate in decisions regarding their care plan and their life project, in accordance with EUCERD recommendations (2013).
BOND ERN aims to assess patients and families accessibility to and appropriateness of healthcare and social services. At the same time, the Network seeks to evaluate healthcare, social effectiveness, cost-effectiveness of actions implemented, measuring their impact on the quality of life of people living with RD.

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Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources or expertise, as in the case of rare diseases, on the basis of criteria to be established under Directive 2011/24/EU.
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Endo-ERN is directed at bringing together EU expertise on rare endocrine conditions. This is set-up in a 5-year plan including 3 phases. In Year 1 – the first phase - the consortium will focus on the inventory and mapping of the knowledge base, innovation and resource capacity and quality of care (QoC) of the Member States (MS) involved. Geographical differences will be charted on knowledge and awareness gaps, relevant biobanks, trials European patient advocacy groups (ePAGs) and other initiatives will be identified. In phase 2, comprising Year 2-4, a stepwise execution will follow to implement actions addressing gaps and opportunities that are identified in Year 1. To maintain and consolidate the equalisation of the healthcare and research level, the third phase – Year 5 – will focus on ensuring long term continuation (although this will be of continuous importance throughout phases 1 and 2.

The work plan is subdivided in 5 work packages (WPs) containing the phased activities aimed at 8 main thematic groups (MGTs). For the first time in the history of endocrinology, we are bringing together paediatric and adult endocrinologists, and both are also represented in the overall management structure of Endo-ERN. Tasks aimed at overall management and coordination of the execution of the work-plan activities in Year 1 are envisioned to be co-funded under the FPA, of which many are aimed at the initial inventory and surveying activities. Endo-ERN will setup a specific communication and dissemination strategy aimed at all stakeholders involved in the rare endocrine disease field to ensure awareness and engagement.

Endo-ERN’s mission is to reduce and ultimately abolish inequalities in care for patients with rare endocrine disorders in Europe, through facilitating knowledge sharing and facilitating related healthcare and research. Endo-ERN provides equality between paediatric and adult patients. Ultimately, Endo-ERN will result in the best possible care for every patient with a rare endocrine condition.

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Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources or expertise, as in the case of rare diseases, on the basis of criteria to be established under Directive 2011/24/EU.
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