What is the use of Patient Registries? And how does data sharing in the ERNs work? Our coordinator Holm Graessner will give an insight on this at the EESC Conference “Towards an EU Action Plan on Rare Diseases” on April 10, 16:30 CEST.
And our patient advocate Lori Renna Linton will talk about Patient Journeys and how to develop one, at 12:00 CEST.
You can now register for online participation here. Find the programme here.
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.
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.
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.
Rare Disease Day is coming up! Join us for shaping the future on policy for Rare Neurological Diseases on February 19, 10-12 CET. Join the meeting with the MEP Interest Group Brain Helath & Neurological Conditions together with our coordinator Holm Graessner as panelist.
Big thanks to the European Federation of Neurological Associations (EFNA) for this invitation! To participate on-site or online please register till February 5: https://www.efna.net/mep-february25/
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:
The European Pediatric Neurology Society (EPNS) and the European Reference Network for Rare Neurological Diseases (ERN-RND) are organizing a Winter School on Challenges of Treating Rare Neurological Diseases.
The school will take place virtually, from 12th to 14th March 2025.
Day 1 Disease Modifying Therapies Day 2 Movement Disorders Day 3 Co-morbidities and Cases
We are happy to announce that the ERN-RND annual meeting 2025 will be in the Tutzing Castle (close to Munich) in Germany on 27th and 28th October 2025 (the board meeting will be on the 26th October late afternoon).
We expect one representative of each HCP to be present in Tutzing. Additionally, online participation will be open to as many colleagues from ERN-RND as possible.
The combination of newborn screening, care pathway and respective therapies led to a major breakthrough for rare diseases in this study: “Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy”.
The study was conducted in the German expert centers Hannover and Tübigen over the period of nearly 2 years. By using a three-tiered screening strategy 3 of over 100.000 newborn infants were screened positive for MLD and received treatment in accordance with the proposed care pathway.
Patient Journeys are practical quick overviews that guide you through the stages of a rare neurological disease. But do you know how patient journeys are developed? From the first draft made by a patient advocate over surveys and evaluations by clinicians – a patient journey is a lot of work.
How exactly this development process looks like and which ways of disseminating we are focusing on – listen to EURORDIS new episode of ERNs on Air (episode 6) and find out: https://www.eurordis.org/rare-on-air/
We are happy to announce that the ERN-RND Annual Meeting 2024 will be held in Ljubljana, Slovenia, on 10-11 October 2024. We expect one representative of each HCP to be present in Ljubljana. Additionally, online participation will be open to as many colleagues from ERN-RND as possible.
We are happy to announce that our 100th webinar on rare neurological diseases will be held tomorrow at 15 CEST and you can still register!
Willeke van Roon-Mom will be talking about “Genetic therapies and therapy developments for rare movement disorders”. Don’t miss it – registration is free!
We are looking forward to meeting you at this year’s EAN Congress: come and visit us at our booth N27 and don’t miss our Scientific Theatre on Dystonia and Huntington’s Disease on July 1st at 16:25 EEST (Neurohood Hall).
Join also our (N)Euro-Café or take a picture at our photo booth “Shine Light on the Invisible” (N28) – our common activities with EFNA and the ERNs epiCARE and EURO-NMD.
Read now our newly published paper on “Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network” by Aleš Maver, Katja Lohmann, Fran Borovečki, Nicola Wolstenholme, Rachel L. Taylor, Malte Spielmann, Tobias B. Haack, Matthias Gerberding, Borut Peterlin & Holm Graessner in the European Journal of Human Genomics.
In the past decade, next-generation sequencing (NGS) has revolutionised genetic diagnostics for rare neurological disorders (RND). However, the lack of standardised technical, interpretative, and reporting standards poses a challenge for ensuring consistent and high-quality diagnostics globally. To address this, the European Reference Network for Rare Neurological Diseases (ERN-RND) collaborated with the European Molecular Genetics Quality Network (EMQN) to establish an external quality assessment scheme for NGS-based diagnostics in RNDs. The scheme, initiated in 2021 with a pilot involving 29 labs and followed by a second round in 2022 with 42 labs, aimed to evaluate the performance of laboratories in genetic testing for RNDs. Each participating lab analysed genetic data from three hypothetical cases, assessing genotyping, interpretation, and clerical accuracy. Despite a majority of labs using exome or genome sequencing, there was considerable variability in gene content, sequencing quality, adherence to standards, and clinical guidance provision. Results showed that while most labs provided correct molecular diagnoses, there was significant variability in reporting technical quality, adherence to interpretation standards, reporting strategies, and clinical commentary. Notably, some labs returned results with the potential for adverse medical outcomes. This underscores the need for further harmonisation, guideline development, and external quality assessment in the evolving landscape of genomic diagnostics for RNDs. Overall, the experience with the scheme highlighted the generally good quality of participating labs but emphasised the imperative for ongoing improvement in data analysis, interpretation, and reporting to enhance patient safety.
“Getting coordinated care is not a pipe-dream. It is a reality in Innsbruck and can be a reality in other places” (Patient Advocate from ERN-RND)
The question our ePAG asked ourselves in January of 2024: What does good care look like? We thought it wise to visit an Expert Center to learn about the expertise and the standards that they provide to patients. We identified a center that covered all of the representative diseases in the ERN-RND. We then decided on the questions we wanted answered.
On 24 May, the ePAG of the ERN-RND left their mark in Innsbruck, where they visited Dr. Sylvia Boesch and her team -at the Center for Rare Movement Disorders Innsbruck (CRMDI) in the Medical University Innsbruck.
Dr. Matthias Amprosi, part of the neurology team at the CRMDI made a presentation, which covered the majority of the questions we sent them prior to our visit. We learned about the clinic and how many patients they see and help per year. We learned about studies that are currently in progress. We learned that there are also organizational, nursing and physiotherapy teams, as well as social workers, all of whom are exclusively assigned to the Department of Neurology. We then saw that in action.
We visited the physiotherapy center where you learn skills while you’re having fun. For example, you can use the h/p/ cosmos fitness trainer for gait analysis while watching a screen in front of you and stepping over objects “in your way.” You can play Wii Fit or, you can use the tyromotion to train fine motor skills by copying a simple drawing.
We also met a 24-year-old male with Friedreich’s Ataxia, who was being advised by his doctors about appropriate jobs because the social welfare office isn’t familiar with that disease and cannot offer advice.
Our ePAG had this to say about the visit: “The presentation of the center’s entry into the ERN was amazing and it was so interesting to see how they work with the ERN network and understand the mutual benefits. It was also interesting to get an overview and to learn about the studies that are in progress at the moment. The implementation of rehabilitation, research and training into the clinical units is impressive. This is a forward-leaning and enthusiastic staff. Also impressive is the holistic approach, in both physiotherapy and in Sylvia’s approach of taking very good care of her patients.”
To thank Dr. Bösch for the visit, the patient representatives gave her a zebra figurine as a symbol of rare diseases: “When one hears hoofbeats, it isn’t necessarily a horse, it can be the much rarer zebra.”
What is equally impressive is how well this ePAG works together. We genuinely like each other and have spent time developing our professional relationship for the benefit of all the people we represent.
Report written by Lori Renna Linton, member of the ERN-RND European Patient Advocacy Group (ePAG)
Our 5th Winter School will be a Spring School this year and will focus on Deep Brain Stimulation in Dystonia. It will be held online from April 17 to 19, 2024.
The registration is not open yet, but you can already have a peek at the Preliminary Programme:
17 April 2024 I Indications and Diagnosis
Isolated Dystonia (inherited, idiopathic)
Infancy Dystonia
Combined Dystonia
Botulinum toxin: opportunities & limitations
Drug therapy and neurorehabilitation: opportunities & limitations
18 April 2024 I How to do DBS/ Neurosurgery
Neurosurgery aspects of DBS in Dystonia (including alternative targets (STN, VOA, VIM))
Specific aspects of DBS in paediatric Dystonia
MER and LFP-signals for implantation and programming in Dystonia patients
Neuroimaging for implantation and programming in Dystonia patients
The ERN-RND cordially invites coordinators and project managers of all ERNs to join our annual ERN coordinators and project managers meeting 2023. The meeting takes place in Bilbao (Spain) on 09 and 10 October 2023, right before the EESC Conference 2023.
Accommodation and travel costs are not covered by the ERN-RND and have to be covered by each ERN. For accomodation recommendations please check the EESC accommodation flyer.
You will have the possibility to meet your colleagues face-to-face. The meeting enables you to discuss present achievements and future work of the ERNs as well as to share experience. You‘ll also have the chance to get support with specific needs and challenges within your ERN.
The European Reference Network representatives and people living with a rare disease across Europe, call on the EU institutions and EU Member States’ governments to stand by the European Reference Networks and to uphold their commitment to enable long-lasting impact in people’s lives and, fundamentally, give all people living with a rare or complex condition in Europe the same opportunities to access timely and adequate specialised healthcare
In particular, ERNs ask for
Secure long-term financial stability
Designate Affiliated Partners and expand the disease coverage
Support greater cross-ERN collaboration
Establish treatment eligibility and molecular therapeutic panels
Fully integrate ERNs into national health system services
Urgently define and systematically collect and monitor health and experienced-based outcome measures
Better support and recognition of the contribution of volunteer patient organisations, patient representatives, healthcare providers and clinicians in the Networks
The Solve-RD consortium and associated European Solve-RD network, including among others six European Reference Networks, EURORDIS, Orphanet and leading European Rare Disease Clinicians and Researchers in 20 countries, call upon all European RD stakeholders, including EU Member States, the European Commission, the Council of the European Union, the general public and private organisations active in the RD field, as well as the rare disease community at large to act NOW to seize the current once-in-a-generation opportunity to significantly improve RD diagnosis in Europe.
This unique opportunity is characterized by pan-European access to diagnostic technologies in particular Whole Exome Sequencing, the just reached maturity of the European Refence Networks ecosystem, the looming opportunity to share RD data on European-wide scale within the forthcoming European Health Data Space, the upcoming RD-Partnership as well as – with Solve-RD – the availability of a scalable transnational diagnostics research platform.
Solve-RD has summarized the critical action points here.
The 35th Annual Meeting EACD “to be held between 24 – 27 May 2023 in Ljubljana, Slovenia, hosted by University Rehabilitation Institute Republic of Slovenia.
The motto of this EACD annual meeting is “Smarter Goals for Better Future”, with the intent to emphasize the importance of goal setting in all processes of care in the rehabilitation of children and youth. The program in Ljubljana will be divided into five main thematic modules:
The importance of timely intervention
Advances in the management of orphan diseases
Management of pain in children with developmental disorders and chronic pain syndromes in otherwise normally developing children
Goal setting: active role of the child and parent in (re)habilitation process
Advances in technological support of the rehabilitation process.
After 2 years online, it has been an absolute pleasure to gather together again to celebrate our amazing awardees with over 250 participants in Brussels and 130 connecting remotely from 38 countries!
Yesterday marks the approval of the first medication to treat Friedreich’s Ataxia (FA), a milestone for the FA community and the Friedreich’s Ataxia Research Alliance (FARA). Reata Pharmaceuticals announced that the U.S. Food & Drug Administration has approved SKYCLARYS™ (omaveloxolone) for the treatment of people who have FA and are 16 years of age or older. This announcement comes on Rare Disease Day, which is recognized as a day to raise awareness of the unmet medical needs for the hundreds of millions of people living with rare diseases worldwide.
Rare Disease Day is the official international awareness-raising campaign for rare diseases which takes place on the last day of February each year.
The main objective of the campaign is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.
Rare Disease Day was launched by EURORDIS-Rare Diseases Europe and its Council of National Alliances in 2008.
Find more information about the Rare Disease Day on the campaign page
Essential requirements before thinking about a clinical trial
In the ERICA WP4 Clinical Trial Support webinar “Essential requirements before thinking about a clinical trial” we will overview what should be done at the very least before starting a clinical trial in a study site. All the requirements will be discussed according to the role that an investigator may have in the trial. Some guidance and sources will be also provided.
Speaker: Viviana Giannuzzi, Fondazione per la Ricerca Farmacologica Gianni Benzi Onlus
28 February 2023 from 12:00 to 13:00 (CET)
Organised by ERICA in collaboration with EJP RD and ERN BOND
This is really a great honour, not just for me but for my team and the people I collaborate with. The dominating feeling is appreciation and gratefulness to the people I am privileged to work with in the area of rare diseases. And there are many nice and fit persons I collaborate with.
This is how Holm Graessner describes his surprise and joy about the award.
Since 2012, EURORDIS-Rare Diseases Europe has organized the Black Pearl Awards. Goal of the event is to recognise the major achievements and outstanding commitment of patient advocates, patient organisations, policymakers, scientists, companies, and media who strive to make a difference for the rare disease community.
Holm studied Biomedical Engineering, Cybernetics, German Language and Literature, Philosophy, Business Administration and Marketing. He obtained a PhD (summa cum laude, 2004) and an MBA (2008). Holm is a founding member of the first Centre for Rare Diseases in Germany (2010). The center established an umbrella infrastructure (chaired by Holm), a therapy research centre and a clinical information centre for rare diseases.
I am a healthcare manager and a research manager. As healthcare manager I am the managing director of the Centre for Rare Diseases at the University Hospital Tübingen and the coordinator of the European Reference Network for Rare Neurological Diseases. As research manager, my team and I have been coordinating more than 30 large global, European and national collaborative research projects.
Holm initiated and coordinates the European Reference Network for rare neurological diseases (ERN-RND) as well as “Solve-RD – solving the unsolved rare diseases”.
Joining forces with the European Academy of Neurology (EAN), he is a fellow of the EAN and member of the management team of the coordinating panel for rare neurological diseases and of the neurogenetics panel.
Finally, Holm is one of the driving forces of the Ataxia Global Initiative and the European Network “1 Mutation 1 Medicine”.
The motivation and the will to advocate for patients with rare diseases and to improve their situation is the drive of his work even after many years.
Effective collaboration in the field of rare diseases needs to be patient-driven. So it always starts with listening to and involving patients and patient representatives. Furthermore, effective collaboration needs shared goals, appropriate resources, leadership, good communication and an engaged team. In the (academic) rare disease field, collaboration very often implies self-exploitation, at least to a certain extent. So I tend to apply the “nice people rule”. Collaborate with nice people in order to keep motivation and joy levels high.
Read Holms portrait on the EURORDIS homepage: https://www.eurordis.org/black-pearl-2023-education-and-collaboration/