|
|
|
as we approach the end of the year, we are pleased to share some exciting updates from the ERNs: the European Commission has published the first-ever Monitoring Report on ERNs since their inception in 2017. We are also looking ahead to the High Level Meeting on Rare Diseases coming up on December 9-12. We invite you to join us remotely as our coordinator, Holm Graessner, will be contributing actively to the program — serving as a panellist in two discussions and moderating an additional panel (more information below).
|
What else awaits you in this newsletter? We have endorsed two new patient information flyers on Deep Brain Stimulation (DBS) and dyskinetic crises in GNAO1-related disorders. Developed after two caregiver surveys, these materials—available in five languages—lay the groundwork for upcoming clinical recommendations. Learn more in our video interview with Jana Carral Domínguez. And with Rare Disease Day coming up on February 28, there is also outreach material for 2026 available.
|
Please also note: next Tuesday’s webinar will take place at 1:00 PM CET instead of 3:00 PM CET.
|
And as always you will find information on our upcoming webinars and events. Enjoy reading!
|
We are already looking forward to many exciting and inspiring events in the coming year. For now, we wish you a wonderful pre-Christmas season and happy holidays.
|
Best wishes,
The ERN-RND Coordination team
|
|
|
|
|
CONTENT
|
About us
Disease Knowledge
ERN-RND Webinars
Cross-border Healthcare
One Neurology Webinar
Rare Disease Day 2026
Upcoming Events
|
|
|
|
ABOUT US
|
|
|
High Level Meeting on a European Innovation and Care Ecosystem for Rare and Complex Diseases on December 9-12, 2025
|
Join us remotely for this three-day event, that will gather key stakeholders, including EU policymakers, industry leaders, patient advocacy groups, researchers, and healthcare providers. Its goal is to identify concrete actions and incentives to enhance innovation across the rare disease ecosystem.
|
- Day 1: Fostering competitive excellence in science and innovation through support for fundamental research, clinical trials, and translational research.
- Day 2: Building pan-EU infrastructure to strengthen European Reference Networks and enhance capacity, including newborn screening and the use of data and AI to expedite diagnosis and treatment initiation.
- Day 3: Overcoming fragmentation by establishing a coherent policy and funding regulatory framework specific to rare diseases, highlighting the importance of cross-border care.
A key objective of the HLM will be to advocate for the EU’s adoption of a European Declaration on Rare Diseases.
|
Our coordinator Holm Graessner will be participating in two panels on Day 1:
|
- Fostering EU Leadership in Clinical Trials for Rare Diseases (12:45-14:00 CET)
- Creating Comprehensive Rare Disease Infrastructure Clusters for Research, Innovation and Care (15:10-16:25 CET)
He will also be moderating the panel "Ringfencing EU Funding for ERNs and Translational Research" (16:55-18:00). In total 5 ERNs will participate in this meeting.
|
|
More information here and registration here.
|
|
|
|
|
|
European Reference Networks - First Monitoring Report (2025)
|
The European Commission has published the first Monitoring Report on ERNs in order to showcase their growth and professionalization since their inception in 2017. Moreover, the publication of this data serves to provide an insight into the different areas of work of the ERNs, their reach, impact and added value for patients living with rare diseases and their families.
|
|
|
|
|
DISEASE KNOWLEDGE
|
|
|
NEW Patient Information Flyers for GNAO1-related Disorders
|
What is Deep Brain Stimulation (DBS) and when can it help? Children with GNAO1-related disorders often face developmental delays and challenging movement disorders. For some, DBS can be a life-changing intervention.
|
Making decisions about DBS is a big step. To support parents during this process, our members at Barcelona Children's Hospital Sant Joan de Déu have created two patient information flyers on DBS and Dyskinetic Crises, available in 5 languages.
|
Find the flyers here (free to download):
|
Find all flyers here (blue patient information box).
|
The flyers are a result of two caregiver surveys. The results shed light on how deeply these crises impact daily life and revealed the emotional complexity families face when deciding on DBS. They highlight a clear need for stronger communication and improved psychological support throughout the clinical journey.
|
The next step is to create clinical recommendations that integrate both scientific evidence and caregiver perspectives. This project illustrates the essential role of European collaboration in improving care for rare neurological disorders.
|
|
To learn more on this project, watch our video interview with our member Jana Carral Dominguez here:
|
|
|
|
|
|
|
ERN-RND WEBINARS
|
|
Upcoming Joint Educational Webinars
|
|
ERN-RND provides free educational webinars on rare neurological and neuromuscular diseases - in collaboration with the European Reference Network for Rare Neuromuscular Diseases (EURO-NMD) and the European Academy of Neurology (EAN). The goal is to share knowledge on rare neurological, movement and neuromuscular disorders via a series of webinars presented by expert members of both networks.
|
|
|
|
|
Next ERN-RND webinar will be on:
|
|
|
TODAY 04.12.2025, 4-5 pm CET | ‘Update on Congenital Myasthenic Syndromes’, by Hanns Lochmüller, Department of Neurology, Faculty of Medicine, University of Ottawa, Canada. SIGN UP here. (EURO-NMD)
|
NEW TIME 09.12.2025, 1-2 pm CET | ‘The Importance of Genetic Counselling in the Diagnostic of Rare Neurological Disorders’ by Maria Judit Molnar, Semmelweis University, Budapest, Hungary. SIGN UP here. (ERN-RND)
|
10.12.2025, 4-5 pm CET | ‘Management of Fatigue in Myopathies (NEUROGED Guidelines)’, by Michelangelo Mancuso, Azienda Ospedaliera University of Pisa, Italy. SIGN UP here. (EURO-NMD)
|
11.12.2025, 4-5 pm CET | ‘Mental health in Neuromuscular Disorders’, by Tonje Elgsås, Frambu Resource center for rare diseases, Norway & Arabela Acălinei, European Alliance of Neuromuscular Disorders Associations (EAMDA). SIGN UP here. (EURO-NMD)
|
|
13.01.2026, 3-4 pm CET | ‘Social and life style issues related to ataxias and HSP’ by Lotte van de Venis and Lori Renna Linton, Radboud University Meidcal Center, Nijmegen, the Netherlands, Euro-HSP. SIGN UP here. (ERN-RND)
|
|
|
|
|
|
|
eanCampus offers monthly webinars, 2 master classes per year and weekly podcasts on 3 expert levels (basic, advanced, expert), in total more than 1000 pieces.
|
|
17.12.2025, 15-16 CET I “The Role of Microglia and TREM2 in Alzheimer's Disease”, by Erica Tagliatti, Estrella Morenas-Rodríguez. To register click here.
|
|
|
|
|
|
|
|
|
|
Free Courses for Healthcare Professionals, Caregivers & Family Members
|
The Huntington Academy is a multinational, multilingual initiative designed to address the significant gaps in care provision for families impacted by Huntington’s disease (HD). Its mission is to empower the HD community through knowledge, skills, and collaborative learning, fostering improved care, advocacy, and quality of life.
|
It is an innovative and comprehensive e-learning platform designed to provide accessible and high-quality educational resources for both formal (healthcare professionals) and informal (family members and friends) caregivers of individuals affected by HD. The Huntington Academy contents are available in four languages – Bulgarian, English, French and Spanish.
|
The platform includes two transversal core courses — “What is HD? (HD basics)” and “Communication Skills in HD Care” — and seven domain-specific courses covering key disciplines in HD care (Neurology, Psychology, Nutrition, Physiotherapy, Speech Therapy, Occupational Therapy and Oral Care).
|
|
All the Huntington Academy contents were jointly created by patient organizations, family members and healthcare professionals from the countries involved in the consortium.
|
|
|
|
|
|
AGI Webinar Series: Preventive Trials for SCAs
|
Ataxia Global Initiative launched a new webinar series focusing on preventive trials in the spinocerebellar ataxias (SCAs) — a developing area in ataxia research.
|
Preventive approaches build on recent progress in understanding pre-ataxic disease stages and early biomarkers, representing the next step toward earlier intervention. This concept has already been explored in other neurodegenerative diseases, and the series aims to translate these insights to SCAs. See the full program here.
|
|
The webinars will address:
|
|
• The rationale for preventive trials
|
|
• Characterization of the pre-ataxic stage in SCAs
|
|
• Lessons learned from related conditions
|
• The potential of emerging biomarkers
|
|
|
|
CROSS-BORDER HEALTH CARE
|
|
|
|
|
MLD Treatment Eligibility Panel
|
|
In cooperation with the MLD initiative, ERN-RND established a standard pathway for consulting an international MLD expert panel whenever possible benefits of treatment with hematopoietic stem cell transplantation or gene therapy are not straightforward for a patient with confirmed MLD diagnosis. Upon submission of an eligible case, the treatment eligibility panel is convened on an ad hoc basis, organized and supported by the ERN-RND CPMS helpdesk.
|
We encourage all physicians in Europe to discuss the possible benefits of treatment options for difficult cases with this MLD expert panel.
|
You would like to discuss one of your patients with the panel?
|
|
|
|
|
|
Online Multidisciplinary Board for Deep Brain Stimulation in Dystonia
|
ERN-RND has established a standard pathway for providing multidisciplinary expert recommendations concerning Deep Brain Stimulation (DBS) in Dystonia.
Potential questions which the multidisciplinary board may address include (but are not limited to):
|
- INDICATION DBS candidate yes/no?
- TARGET Which Target; GPi, STN, VoA?
- PROGRAMMING Treatment advices of implanted patients
|
To make use of this opportunity, relevant medical data must be provided via the telemedicine platform CPMS beforehand.
|
|
Advice will be provided by at minimum one dystonia expert specialized in DBS and a stereotactic surgeon specialized in DBS, plus further specialists invited case-by-case in a virtual meeting with the referring clinician.
|
|
|
|
Neuroradiology Expert Advice for Diagnostic and Management Decisions in RND
|
ERN-RND has established a standard pathway for providing expert neuroradiological advice across sites. Our ERN-RND member hospitals (and affiliated partners) are encouraged to contact us for any RND case for which they would like a second opinion as a basis for individual recommendations for diagnostic and management strategies to optimize patient care.
|
Possible scenarios for which clinicians might want to use this offer include (but are not limited to):
|
- Child with mild developmental delay: benign / onset of disease? -> cMRI: delayed brain maturation vs. (subtle) structural abnormalities
- Child with delay + subtle signs: acquired / genetic? -> cMRI: acquired disease, e.g. CMV infection / TORCH vs. likely genetic
- Acutely ill patients with suspected encephalopathy -> cMRI: secondary, e.g. infectious / para-infectious vs. metabolic / genetic
- Cerebellar syndrome with fast progression -> cMRI: secondary, e.g., cerebellitis vs. genetic
- Patient after pharmacological treatment showing brain volume reduction -> cMRI: side effects vs. neurodegenerative / neurogenetic disease
To make use of this opportunity, imaging data must be provided via CPMS. Advice will be provided in a virtual meeting between the referring physician plus the initial neuroradiologist and a dedicated ERN-RND neuroradiological expert clinician (and further experts if necessary. Meetings are facilitated by the ERN-RND CPMS helpdesk.
|
You are affiliated to an ERN-RND expert center and would like to receive neuroradiology advice for one of your patients?
Please contact us.
|
|
Learn more about the Neuroradiology Expert Advice Panel in this video interview with Eva Bültmann, who is an expert in neuroradiology and coordinates this panel.
|
|
|
|
|
WEBINAR
|
|
|
Webinar: Advancing Policy and Advocacy Through Data
|
|
Tuesday, 9 December 2025, at 14:00-16:00 CET
|
This webinar policy dialogue brings together neurologists, patient leaders, and policymakers to reflect on neurology-related developments post UN General Assembly High-Level Meeting on Non-Communicable Diseases (HLM on NCDs). This session will highlight key discussions from UNGA80 and explore their implications for global and national advocacy.
|
A central focus of the webinar will be the recently published WHO Global Status Report on Neurology. Participants will gain insights from the latest data and discuss how evidence can inform actionable policy strategies. By sharing expertise and global perspectives, the dialogue will support translating research and data into practical advocacy pathways, elevating neurology within health agendas worldwide.
|
Speakers at the event will include Prof. Dr Wolfgang Grisold, President, World Federation of Neurology, Sebastian Winter, MD, PhD, Consultant (Brain Health), World Health Organisation and Donna Walsh, OneNeurology Chair and CEO, International Bureau for Epilepsy (IBE).
|
|
|
|
|
|
|
|
Rare Disease Day 2026 - all about Equity
|
This year Rare Disease Day is about highlighting the need on Equity. While equality means promoting fairness by treating everyone equally regardless of need, equity means promoting fairness through treating people differently, depending on need.
|
Find here this year's outreach material (email signature, virtual background, social media banner...)
|
|
Watch the official RDD 2026 video here.
|
|
|
|
UPCOMING EVENTS
|
|
|
|
|
|
3rd Expert Summit on the Future of Deep Brain Stimulation
|
February 22-24, 2026, Würzburg (Germany)
|
- Network-wide modulation and therapeutic effects of DBS
- Translational approaches in DBS
- Computational modelling and imaging in DBS
- Hardware innovations and technological needs
- Digital Innovations in DBS
- Closed-loop-neurostimulation
- Alternative technologies for targeted neuromodulation
|
Find the programme here and more information here.
|
|
|
|
|
|
|
13th European Conference on Rare Diseases and Orphan Products
|
|
June 3-4, 2026, Prague and online
|
The next ECRD will be held on 3-4 June 2026 in Prague and will be titled “Rare Diseases in a Changing & Competitive Europe: Shaping policies to address the unmet needs of people living with rare diseases”.
|
|
Only #SaveTheDate, no registration or programme yet.
|
|
|
|
|
|
|
|
|
|
38th Annual Meeting of EACD
|
June 3-6, 2026, Galway, Ireland
|
The old Irish wisdom ‘Mol an Óige agus Tiocfaidh Siad’ – Encourage the young and they will flourish – is the theme of EACD 2026. The conference will focus on disability and health through a holistic lens. Taking a lifespan approach and positioning the voice of people with childhood-onset disabilities and their families at the centre of all that we do, we aspire to support people with disabilities to flourish not just now but into their futures.
|
Our ePAG Mary Kearney will also give a talk on "From Survey to Practice: Strengthening Transition Pathways in Rare Disorders to Foster Lifelong Participation, Community Integration, and Person-Centred Continuity of Care"
|
|
|
|
|
|
|
|
|
12th Congress of the European Academy of Neurology
|
|
June 27-30, 2026, Geneva, Switzerland
|
EAN's overarching theme for 2026 is Brains, Bytes & Beyond: Tech in Neurology. The outsourcing of cognitive capacities from humans to artificial intelligence offers huge opportunities but also significant challenges and risks. In clinical neurology, the impact of computing will range from applications like restorative therapies to the very fundamentals of our profession such as clinical reasoning and decision making. Through this year’s theme, EAN will explore the extent to which computing is finding its way into neurological practice.
|
|
Early bird registration is open, click here. Find the programme here.
|
|
|
|
|
|
|
ICAR 2026
November 10-13, 2026, Atlanta, Georgia (USA)
|
Ataxia UK, National Ataxia Foundation (NAF), Friedreich’s Ataxia Research Alliance (FARA), and Ataxia Global Initiative (AGI) are pleased to announce the date for the next International Congress for Ataxia Research (ICAR).
|
ICAR 2026 will take place at the Renaissance Atlanta Waverly Hotel & Convention Center in Atlanta, Georgia, U.S. Please save the date for November 10-13, 2026.
|
|
ICAR 2026 will be the place to share the latest ataxia research, including updates on Friedreich's ataxia and SCAs 1, 2, 3, 6, 7, and more. Attendees will hear developments in novel treatment approaches, clinical trial results, and scientific debates from leading ataxia researchers. There will also be the opportunity to network with academic and industry leaders. Special sessions and events are planned for junior researchers.
|
|
|
|
|
|
NEWSLETTER
|
|
The ERN-RND Newsletter is published monthly. Please forward this newsletter to your colleagues who can also sign up to receive it directly here or by emailing communication@ern-rnd.eu
|
|
|
|
Thank you for your support and take care.
|
|
ERN-RND Coordination team
|
|
|
    
|
|
|
|
|
|
