ERN-RND | European Reference Network on Rare Neurological Diseases
for rare or low prevalence complex diseases
We’re hiring a project manager, full or part-time (70-100%). Application deadline: 31.05.2024. Interested? Please find the job description here (in German): https://jobs.medizin.uni-tuebingen.de/Job/3965/Akademische–n-Mitarbeiterin—Mitarbeiter-fuer-wissenschaftliches-Projektmanagement
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.
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. |
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
The registration for the EAN 2023 just opened.
Find more infos on the EAN website:
Congress: 9th Congress of the European Academy of Neurology – Budapest 2023 – ean.org
Registration open: Register – ean.org
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/
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.
Call for Proposals 2023
“Natural History Studies addressing unmet needs in Rare Diseases”
The European Joint Programme on Rare Diseases (EJP RD) has successfully implemented four Joint Transnational Calls since 2019 to further help in coordinating the research efforts of European, Associated and non-European countries in the field of rare diseases and implement the objectives of the International Rare Disease Research Consortium (IRDiRC). These actions are following the ten Joint Transnational Calls for rare diseases research projects launched previously by the ERA-Net E-Rare since 2006.
The aim of the call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with expected impact to use the results in the future for benefit of patients.
Topic: Natural History studies addressing unmet needs in Rare Diseases
The objective of this call is to conduct efficient, innovative and high-quality natural history studies which will facilitate understanding of the disease’s or group of disorders’ progression throughout the lifespan of a patient. The goal of these studies is to collect and analyze comprehensive patient data to define targets for future therapies, taking into consideration innovation, safety, and efficacy.
Find more information here: https://www.ejprarediseases.org/joint-transnational-call-2023/
Presenting your research at Europe’s largest neurology forum has always been exciting, and this year will be even more so. A chance for us to meet in person and your opportunity to address an audience hungry for scientific meetings!
Whether you wish to present your work as an oral platform presentation, an ePoster or as a virtual ePoster format, this is the ideal time to share your latest study results with our enthusiastic neurology community.
Important points to remember:
Find more information here
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.
In their new monthly podcast, Rare on Air, Communications Manager, Julien Poulain, meets with people who live with a rare disease, those who advocate for them, and experts on rare disease policy.
The podcast explores the unique experiences, challenges and successes of people from our community, and investigates how we can build a better world for those who have a rare condition.
Each episode focuses on a specific theme or policy area relating to the work and advocacy of EURORDIS.
Read more
