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Rare Diseases & ERNs

The EUHA Network in Rare Diseases and European Reference Networks (RD & ERN) aims to strengthen care for rare disease patients and support the long term sustainability of the European Reference Networks (ERNs). The network aims to identify and implement collaborative healthcare pathways for rare diseases, share best practices, and develop common solutions to challenges within this domain, including in partnership with the European Reference Networks.

The expert network for European cooperation in rare diseases

One of EUHA’s key priorities is to develop common solutions to challenges in rare diseases (RD) and to facilitate their implementation in collaboration with the European Reference Networks (ERNs). To achieve this objective, all EUHA members, each possessing demonstrated expertise in rare diseases and collectively covering all the ERNs, are brought together at the EUHA Rare Diseases & ERNs Network.

Within the network, the emphasis lies on identifying common challenges in rare disease healthcare, exchanging best practices, fostering translational and clinical research collaboration, and supporting the harmonisation of RD Coding & Classification. Among different activities, the network organises study visits to EUHA hospitals, to understand the diverse approaches each EUHA member employs in managing and delivering rare diseases healthcare within their respective national contexts. Central to the network's discussions are several EU projects, notably, the Joint Action on Integration of ERNs in National Health Systems (JARDIN) and Orphanet Data for Rare Diseases (OD4RD).

Additionally, the network plans to facilitate a professional training exchange to identify knowledge gaps and establish an exchange programme for early career healthcare professionals and researchers in the field of rare diseases.

Focus Areas

The EUHA RD & ERNs network currently focuses on five strategic areas:

1. Paediatric - adult healthcare transition
Ensuring transition pathways from paediatric to adult healthcare for rare disease patients is a crucial criterion to participate in the European Reference Networks. For this reason, the EUHA RD & ERN network functions as a facilitator for the exchange of experience and tools to ensure transition pathways are implemented in EUHA settings. Additionally, the network is commited to measure the impact of the transition on patient wellbeing and to drive improvements on transition pathways across Europe.

2. Rare Diseases coding and classification
The unmet need for harmonisation of rare disease classification and coding is evident in both patient journal systems and registries. For this reason, through the collaboration in the EUHA RD & ERNs network, experts enhance their understanding of existing classification and coding platforms. This serves as a crucial initial step towards implementing common coding, which will facilitate the exchange and tracking of treatment parameters and clinical outcomes, and ensure the use of harmonised data in the development of novel therapies.

3. EU Policy and Rare Diseases
The RD & ERN network is engaged in different activities within the European rare disease ecosystem. At the moment, the network is reflecting on the ERN 5-years evaluation process.

4. Professional training exchanges
To promote excellence and innovation in rare disease healthcare, the EUHA RD & ERNs network plans to provide knowledge exchange opportunities to early-career professionas and researchers within the rare diseases field.

5. Translational and clinical reseach collaboration
A significant hurdle in the field of rare diseases research is effectively coordinating multicenter studies. This coordination is essential for incorporating comprehensive data based on experimental findings obtained within individual research projects. The EUHA RD & ERN network serves as a valuable platform for addressing common challenges related to data sharing, ERN registries, and legal and ethical aspects.


Rula Zain

Stockholm, Sweden

Karolinska University Hospital

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