ERN-RND | European Reference Network on Rare Neurological Diseases
for rare or low prevalence complex diseases
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.
Find the whole article here.
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/
It is still possible to register to our ERN-RND annual meeting Care-RND24!
Dear ERN-RND members,
It is still possible to register for our ERN-RND annual meeting Care-RND24!
WHO
ERN-RND members (we expect one representative of each HCP on-site)
WHEN
10-11 October 2024
WHERE
University Medical Center Ljubljana, Zaloška cesta 7, 1000 Ljubljana, Slovenia
WHAT
See the programme here
The deadline for on-site registration is 9th September 2024.
We look forward to seeing you!
If you have any questions please contact Sophie Ripp
on 10-11 October 2024 in Ljubljana, Slovenia.
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.
If you missed a session of our Spring School “DBS in Dystonia” you can now watch it online. The following recordings are available:
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.
https://www.nature.com/articles/s41431-024-01639-2
Abstract
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
18 April 2024 I How to do DBS/ Neurosurgery
19 April 2024 I Troubleshooting and Cases
For further information please contact Christine Diaite-Hecht.
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.
Please find the agenda here.
Please contact ">Sophie Ripp to register.
Key information:
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
The complete letter can be found here
The amount of data available in neurology, neuroscience, neurobiology and related disciplines is rising exponentially and our ability to analyse and utilise those data is becoming ever more sophisticated. This will be the topic of the overarching theme of the European Academy’s 2023 annual congress, ‘Neurology Beyond Big Data’, where concepts, recent advances, opportunities and challenges will be discussed.
Data available range from routinely collected clinical data and population health data, through genomics and other omics and to clinical diagnostics (i.e. MRI and neurophysiology). Linkage of diverse datasets and use of novel methods of analysis, including use of artificial intelligence, are giving us new insights into the how the nervous system actually works and the biological basis of neurological diseases. It is also informing the development of new diagnostic technologies, new treatments and how to and in whom to use current and new treatments (personalised treatment) as well as public health interventions.
These advances also pose a number of challenges, for example public concern about use of data and the proportionality of data protection legislation, which on the one hand protects individual’s privacy rights but might also impede advancements that might improve their health, whilst there are also other ethical concerns to consider, for example around genomics. There are also risks that the substantial health inequalities across Europe will be widened if access to the new technologies and other advancements are available mainly to wealthy, highlighting the need for intelligent and progressive policies. All this and more will be discussed at the EAN’s 2023 congress in Budapest.
Concept
Advances in gene therapies are completely changing the possibilities we used to have to deal with devastating rare neurological disorders and dramatically changing our expectations regarding outcomes in these patients. More than 50 gene therapies could be in the clinical ground in the next 10 years, but there are still lots of uncertainties and challenges we need to cope with.
Aim
The aim of this course is to discuss known barriers, challenges, and uncertainties in gene replacement therapies including the vision of different stakeholders (basic researchers, clinicians, patients, regulators, payers, and industry. We split the course into two days in which we deal with different bottlenecks. On the first day, we will review the state of the art in therapy development and problems of the current viral carriers, and possible solutions. On the second day, we will discuss the problems related to clinical implementation and safety.
SAVE THE DATE/Abstracts welcome: EPNS Congress 20-24 June 2023 Congress Center Prague
Welcome to the 15th Congress of the European Paediatric Neurology Society (EPNS) with the main highlight “From genome and connectome to cure”. We invite you to see how the latest trends in understanding pathophysiology of neurological diseases are being implemented in clinical practice. Our field has traditionally focused on precise diagnostics; however, curative treatments were unavailable for a long time. Today, this trend is changing rapidly and novel therapeutic options in our field have brought hope to many families of children even with the most severe neurological conditions.
Learn more and SUBMIT your ABSTRACT (closes 31 December 2022): https://epns-congress.com/
The third edition of the GNAO1 European Conference, 16-17 June, Rome, Italy
Two days entirely dedicated to the ultra-rare disease caused by the GNAO1 gene mutation. An event open to clinicians, researchers, rehabilitation experts, families and everyone interested in this genetic disease.
Find more information on the conference website
| 11-15 June 2023, Bologna |
| In the tradition of this meeting, the intent is to encourage the participation of diverse professional groups, from clinicians to clinical scientists, neuroscientists, and basic scientists. |
| Considering that there is likely to be an acceleration in the field of mitochondrial medicine in the next two years, leading to the availability of new technologies as well as new therapeutic approaches and possibly clinical trials, such contributions will be presented and explained in the scientific sessions. |
We are happy to announce that this year’s ERN-RND annual meeting – CARE-RND23 – will be a 2-day event, scheduled on 19th and 20th September 2023 in Leuven, Belgium.
This year’s meeting will be a hybrid meeting. We expect that one representative of each HCP will be in Leuven. Additionally, we will open the online participation to as many colleagues from ERN-RND as possible. The non-internal parts of the meeting will also be opened to external participants.
For online participation, the Zoom links will be sent by email to the members for the internal part of the meeting.
| 1:00 CET | Welcome and overview of ERN-RND, by Holm Graessner, University Hospital Tübingen |
| 11:30 CET | The VALOR-Trial – a breakthrough for SOD related ALS, by Albert Ludolph, University Hospital Ulm |
| 12:00 CET | Patient journeys, by the Monika Benson (Dystonia Europe) and John Gerbild (Denmark Association for ataxia and HSP) |
| 14:30 CET | Genetic diagnosis and technological advancements, by Alex Hoischen, Radboud University Medical Centre, Nijmegen |
| 15:00 CET | External Quality Assessment for Next-Generation Sequencing Testing in RND, by Ales Maver, University Medical Centre Ljubljana |
| 15:30 CET | Genetic strategies of the future, using the example of the Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia, by Stephan Zuchner, Miller School of Medicine, Miami |
| 17:00 CET | DBS in dystonia, by Sylvia Boesch, Medical University Innsbruck |
| 17:30 CET | Current practices regarding HSCT in metachromatic leukodystrophy in Europe and treatment eligibility panels, byNicole Wolf, Amsterdam UMC |
| 17:50 CET | Ups and downs of therapy development in HD, by Bernhard Landwehrmeyer, University Hospital Ulm |
| 18:10 CET | ERN-RND Registry, by Ludger Schöls, University Hospital Tübingen |
Register here:
https://us02web.zoom.us/webinar/register/WN_5j0tsG39RNG7fikpnEv7lA
Tuesday 19th September and Wednesday 20th September 2023
You have to arrange your own travel.
By train: to Leuven train station (2 min-walk to the venue)
By plane: to Brussels airport (BRU) and then a train from the airport to Leuven
By car: there is an underground parking at the venue. If you wish to use it, please contact
Travel fees will be reimbursed after the meeting according to the unit costs set by the European Commission (the exact costs can be calculated here). Please send your reimbursement form (link to the form attached) to PRIOR to the meeting.
1-3 June 2023, Dublin
Hear from expert faculty as they discuss and debate cutting edge dystonia research. With over sixty speakers from sixteen countries, the Samuel Belzberg International Dystonia Symposium is perfect for researchers and clinicians at any stage of their career.
The symposium is designed to provide a comprehensive overview of important scientific advances in the field and stimulate discussion within and across disciplines.
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.
Are you in ataxia research? The registration is now open for AGI second webinar series: iScience: AGI YII Webinar Series on Hot Topics Explore Your Future in Ataxia Research Target audience: young investigators in the ataxia field, who we hope to give a head start in their career by introducing important aspects of various research topics. Of course, anyone who is interested is welcome to attend! New in ataxia research? Join the AGI Young Investigator Initiative: https://bit.ly/agi-yii
Find more information on Ataxia Global Initiative
Wednesday, 26 April 2023 from 8:30-12:30 CEST, online
Registration: https://us02web.zoom.us/webinar/register/WN_M1qQIxIhTwa37xFgwiAxJQ
The programme can be found here:
Towards the future of rare disease diagnostics
08.30 AM – 10.15 AM | Chair: Ana Rath
• Keynote lecture: Towards a personalised systems biomedical approach for the diagnosis and nutritional treatment of inherited metabolic diseases
Ines Thiele, University of Galway
• Keynote Lecture: Hyperpersonalized therapies for the long tail of genetic disease
Timothy Yu, Boston Childrens Hospital & Harvard Medical School
• The patient perspective
Gulcin Gumus, Eurordis
• SOLVE-RD 2.0
Olaf Riess, University of Tübingen
Impact of Solve-RD on research & care of rare disease patients
10.45 AM – 12.30 PM | Chair: Han Brunner & Holm Graessner
• Key SOLVE-RD achievements
Holm Graessner, University of Tübingen
• Genomics reanalysis of a pan-European rare disease resource yields >500 new diagnoses
Alex Hoischen, Radboud UMC & Sergi Beltran, CNAG-CRG
• Round Table: The future of rare disease diagnostics in Europe
Simona Bellagambi, Eurordis | Daria Julkowska, INSERM | Christina Kyriakopoulou, European Commission, DG Research & Innovation | Milan Macek, Charles University Prague | Olaf Riess, University of Tübingen | Lisenka Vissers, Radboud UMC | Timothy Yu, Boston Childrens Hospital & Harvard Medical School
11th International Meeting on Neuroacanthocytosis Syndromes
The meeting is scheduled for September 15-17, 2023, in Homburg/Saar, Germany (that is neither Hamburg nor Bad Homburg!). It follows the tradition of previous meetings with strong interaction between neurologists, basic scientists, patients, and caregivers as well as advocacies. The Glenn Irvine Prize will also be awarded during the conference.
Attendance at the meeting is free, provided you register by August 31st. Travel and accommodation must be arranged and financed individually. For more information and the option to register, please visit this website: https://tickets.kwt-uni-saarland.de/IMNS2023/.
The BLACKSWAN Foundation and IRDiRC, the International Rare Diseases Research Consortium, will host the joint event RE(ACT) Congress and IRDiRC Conference 2023 – 15-18 March in Berlin.
This joint event continues the IRDiRC Conference series (5th edition) and the RE(ACT) Congress series (7th edition). It aims to bring together scientific leaders, experts, and young scientists from various breakthrough scientific fields to present cutting-edge research, exchange ideas, and discuss policies related to rare diseases research. Patients and patient organizations committed to research will also attend to share their experiences and perspectives.
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!
View the special event here:
CEREMONY RECORDING – https://www.youtube.com/watch?v=OgC8M7rlR6M
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.
Find more information: https://www.curefa.org/news-press-releases/first-medication-to-treat-friedreich-s-ataxia-approved-on-rare-disease-day
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
