ERN-RND | European Reference Network on Rare Neurological Diseases
for rare or low prevalence complex diseases
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:
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 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.
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.
The third edition of the Rome workshop “In search of lost time” is taking place this winter, from December 13th to 15th!
This year’s topic is « From Epileptogenesis to Clinical care ». The workshop is organized by Italian epilepsy teams and is endorsed by the European Reference Network of Rare and Complex Epilepsies, ERN EpiCARE, and by the ILAE.
07-08 December 2022, Paris, France
The Winter School on Fetal Diagnosis organised by the ERN-ITHACA aims to address a learning gap in fetal phenotyping, genetic analysis, and data interpretation. As a single-day course it will include basic lectures and in depth-workshops on phenotyping, prenatal genomic testing, and the implications for genetic counselling. To finalize, the program will bridge the addressed fields with interdisciplinary case discussions.
The course is open to specialists and specialists in training in the fields of clinical and laboratory genetics, bioinformatics, obstetrics, pathology with a special interest in prenatal medicine.
Find more information here.
The European Huntigton Association is conducting a webinar ‘Access to health care services and support for HD patients in Europe’ on 8. December 2022, at 3 pm CET. For more information and to register click here.
The information, gathered by experts and published in systematic literature reviews, is now stored and accessible in the Treatabolome DB. Currently, the database includes up to 180 treatments associated with more than 1000 distinct variants – mainly for neuromuscular disorders. Records are completed with clinical information by using standard vocabularies such as HPO, Orphanet, OMIM, Mesh and Chebi. The project is open to new data submissions and collaborations.
This webinar is especially relevant for people involved in rare disease diagnostics & care (clinicians, geneticists, genetic counsellors, etc.). We will:
Date: Friday, 18 November 2022, 2pm CET
Speakers: Sergi Beltran, Alberto Corvo, Leslie Matalonga (all CNAG-CRG)
Register for Ataxia Global Conference 2022! It has a focus on trial-readiness for ataxia, bringing together representatives from research, clinics, industry as well as patient advocacy organizations. Our sessions cover cohort updates from different continents, clinical and patient-related outcomes, biomarkers and therapy development in ataxia and include an industry session.
When? 4-5 November 2022
Where? hybrid – Dallas, TX, USA and online
Register here.
(the last day for an early bird registration is 10 October 2022!)
The workshop will have a hybrid format. It will be hosted by Centro Hospitalar Universitário do Porto, Portugal, but participants will also be able to join on line, on Thursday, 27th October. The main aim is addressing the education and training activities currently available in the different centres of the ERN in order to elaborate a common training programme for paediatric transplantation in Europe, providing the trainees with the skills to perform a common and transversal approach to all types of paediatric transplantation procedures. Registration for the workshop is already open until Friday, 14th October at 23:55 CET.
The 8th International Symposium on NBIA will take place from October 13th to 15th, 2022 in Lausanne, Switzerland.
For three days, scientists and medical professionals from all over the world are invited to share their work and develop new strategies. Learn news from NBIA research! Share your experience in treating NBIA and take part in round table discussions!
Venue: Crona Kliniken, room HS 210, Hoppe-Seyler-Str. 3 · 72076 Tübingen and online
Members of ERN-RND meet once a year to discuss the latest network/disease specific/research updates.
Full programme here.
