ERN-RND | European Reference Network on Rare Neurological Diseases
for rare or low prevalence complex diseases
Article: Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy
Authors: Daphne H. Schoenmakers, Shanice Beerepoot, Ingeborg Krägeloh-Mann, Saskia Elgün, Benjamin Bender, Marjo S. van der Knaap, Nicole I. Wolf, Samuel Groeschel
Published: November 2022
Rare diseases, including rare cancers, are a heterogeneous group of largely incurable, complex conditions. There are over 6000 rare diseases, and more than 70% have a genetic origin. Although individually characterised by low prevalence, the sheer number of rare diseases results in a directly affected community of 20 million people across the EU. Rare diseases are chronic, progressive, degenerative, disabling and frequently life threatening. They are typically accompanied by a scarcity of knowledge and expertise.
The Czech Presidency of the EU Council organised the Expert Conference on Rare Diseases in Prague on 25-26 October 2022 to explore how the European Union can take continued steps towards a coordinated strategy for rare diseases to better addresses current unmet needs by setting meaningful goals for patients, families and for society at large, integrated at the national and regional levels.
Find more information here.
For two days, experienced, as well as young academics and the representatives of patient organizations, exchanged views on existing initiatives and the improvement of research in the field of Childhood Epilepsy and Movement Disorders.
Rare neurologic disorders in pediatrics often go unrecognized, resulting in protracted delays in diagnosis and limited treatment options. Even when detected early, treatment remains mostly empiric, due in part to limitations in clinical trial design and implementation: several of these disorders with similar clinical manifestations are caused by a variety of affected genes, while therapy in one group of patients may not be applicable to all individuals with the same genetic defect. The main objective of this networking event was to bring together clinicians and scientists from different EU countries and other countries who are intensively involved in clinical research and/or basic research in the field of epilepsy and movement disorders. The event explored the possibility of new treatment approaches in light of recent developments in the field. Researchers were given the opportunity to establish new collaborations, discuss the development of precision medicine hypotheses, and conduct treatment trials to reach more patients across Europe.
Authors:
Published: October 2022
From September 29th to October 1st the annual meeting took place at the CRONA-Kliniken in Tübingen. We are happy that besides the online participants also many on-site participants were present. We would like to thank all participants again for the inspiring presentations, discussions and the valuable exchange.
Astri Arnesen, ERN-RND ePAG representative and president of the European Huntington Association, participated in Tübingen and says:
In my opinion this network will be an important part of providing expertise and best practise treatment and support to RND patients all over Europe.
Read the full article here
In a new leaflet in our section disease knowledge we answer the questions what a recessive ataxia is, which symptoms indicate Friedreich`s ataxia and which forms of treatment are available.
EURORDIS – Rare Diseases Europe developed a short guide to explain in simple and practical terms how to involve patients and patient representatives in the development of clinical practice guidelines and consensus statements.
You may download the guide here.
The 24 European Reference Networks (ERNs) for rare and complex diseases are united to support all Ukrainian patients.
This application connects patients from Ukraine with a rare disease with organizations and hospitals, members of the European Reference Network (ERN), with the aim to provide the specialized medical support they may need during this emergency.
