Expert Conference on Rare Diseases

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.

4th TransplantChild workshop

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.

Register here

EJP RD-Workshop on childhood epilepsy and movement disorders

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.

8th International Symposium on NBIA

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!

More information


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

ERN support Ukraine – Rare Diseases Hub Ukraine

Rare Diseases Doctors

The 24 European Reference Networks (ERNs) for rare and complex diseases are united to support all Ukrainian patients.

The 24 European Reference Networks (ERNs) for rare and complex diseases are united to support all Ukrainian patients.

Rare Diseases Hub Ukraine

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.