Category: Past Events

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.

More information and register

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.

Register and more information

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

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We are happy to announce that this year’s ERN-RND annual meeting – CARE-RND23 – will be a 2-day event, scheduled on 19^th and 20^th 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.

Program of day 1 (open to the public):

Register here:
https://us02web.zoom.us/webinar/register/WN_5j0tsG39RNG7fikpnEv7lA

The Venue

The Diner

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.

More information

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.

More information

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.

Find the programme here

Register 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.

Continue reading “4th Neuromuscular Translational School”

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:

• provide an overview on the Treatabolome Database
• explain how to use the information
• show how to find a treatment for a specific genetic disease
• show how new data is being included and how you can contribute

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!)

Vall d’Hebron, Barcelona, Spain.