Category: News 2025

What do centres of expertise gain from participating in an ERN?
Graessner: An immediate advantage is when doctors at such a centre of expertise are not sure of the right diagnosis or treatment, they can refer to the ERN’s multidisciplinary team consultation. Several experts in Europe then meet online to discuss the patient and form a recommendation for the referring centre of expertise. Other benefits include that ERNs maintain registries with data on patients with the relevant conditions, provide training to doctors, and develop guidelines, care standards and clinical decision support tools.

What do patients gain from this?
Graessner: Our slogan is: knowledge travels, not the patient. So in most cases, patients can visit a centre of expertise in their home country and get diagnostics and treatment through that centre, accessing the ERN expertise whenever needed. Another advantage for patients is that ERNs develop so-called patient journeys. These are visual overviews of the disease symptoms and care needs a patient may experience during different stages of the disease. These materials are now available for different disease groups and in several European languages (ERN-RND, EURO-NMD, epiCARE) In this way, patients can quickly and easily obtain knowledge about the disease, which incidentally also applies to family members and non-specialist doctors.

How do you see the near future of ERNs?
Graessner: After a development phase of several years, the ERNs are now to the point where they clearly add value, but there are still some important areas for improvement. The various centres of expertise are connected, but integration into national healthcare systems lags behind, for example when it comes to the national adoption of guidelines and care standards from the ERNs. To improve this integration, a three-year project called JARDIN was launched in early 2024. Another bottleneck is funding. So far, only the centres coordinating the networks, one centre per network, receive funding from the European Commission. Such a reimbursement is also needed for the other centres of excellence in the network, because participating in an ERN is now extra work and that is not sustainable in the long run.

(Excerpt from the interview with Holm Graessner by Moniek Veltman (for de neuroloog). The original article was published in Dutch here.)

“Does current policy meet the needs of the rare neurology community” and “The impact of rare neurological conditions, through the lifecourse”- those were the two panel discussions at EFNA’s meeting “Shaping the Future: Policy Responses to Rare Neurological Challenges” with the MEP Interest Group Brain Health and Neurological Conditions on February 19 in Brussels.

(European) Patient Organizations, represented through Arabela Acalinei, Merete Haaseth Avery, Jean-Philippe Plançon, José Ángel Aibar and Lutgarde Allard, ERN-RND coordinator Holm Gaessner and MEPs Billy Kelleher, Tilly Metz, Tomislav Sokol, Margarita de la Pisa Carrión, Ondřej Dostál and Romana Jerković attended this meeting.

Holm Graessner emphasized the importance of ERNs – on European as well as on national level – and thus the need to sustain them in the future. He also encouraged to make more use of the ERNs, also in regards to research and HTA (Health Technology Assessment) purposes – the MEPs were fully supportive towards those policy asks.

Watch the recorded meeting here.

Within the Solve-RD project, over 300 experts from different European countries and Canada re-analysed genome data from undiagnosed 6447 patients. They were able to diagnose 506 patients and their families. For 15% of the patients, there are leads for actionability, in some including treatment; in other cases, the diagnosis provides clarity for the patients and their families.

Find the press release here.

Learn more in the paper: Laurie, S., Steyaert, W., de Boer, E. et al. Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses. Nat Med (2025). https://www.nature.com/articles/s41591-024-03420-w

Our coordinator Holm Graessner is now commissioner for the freshly launched Rare Diseases International Lancet Commission on Rare Diseases (RDI-LCRD)! We feel really honoured that among the 27 commissioners from all over the world he is the only one coming from an ERN.

The initiative is dedicated to generating evidence- and equity-informed recommendations that are implementable and impactful across all countries to dramatically improve the lives of PLWRD. The RDI-LCRD brings together 27 Commissioners who represent countries from around the world and bring diverse perspectives (gender, lived experience) and expertise (ethics, clinical care, research, biostatistics, economics, regulatory, technology, innovation) from a variety of healthcare systems.  

Find more information here: press release, website, project description  (registration for FREE account required), LinkedIn.

You can now find us on BlueSky: @ern-rnd.bsky.social

Did you know that BlueSky was conceptualized in 2019 by former Twitter CEO Jack Dorsey and developed in parallel with Twitter? This is why it looks and functions pretty similar like twitter. So, moving from X to BlueSky is very easy, as everything is familiar – and it’s even in the same blue as twitter was!

Try it out and follow us to BlueSky. We hope to see you there soon!

Why is a quality assessment on European level important for next generation seuencing (NGS)? What needs to be improved and what’s the benefit of having a network of expert centers like ERN-RND to work with?

Ales Maver, clinical laboratory scientist at the University Medical Center in Ljubljana, talks about the insights and outcomes of the quality assessment for NGS that was done within the ERN-RND network 2024 in this video:

For more Information, see paper:
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network.

Aleš Maver, Katja Lohmann, Fran Borovečki, Nicola Wolstenholme, Rachel L. Taylor, Malte Spielmann, Tobias B. Haack, Matthias Gerberding, Borut Peterlin & Holm Graessner