EURORDIS launches new podcast: Rare on Air

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

Solve-RD Webinar: The Treatabolome Database

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)

ERN-RND supports 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 Rare Disease Day here.

EURORDIS PHOTO AWARD 2023

Photo submissions for the Photo Award 2023 are open, until 22nd January 2023.
The EURORDIS Photo Award is an opportunity to visually express what it means to live with a rare disease and to share your story with the rare disease community and beyond.

The contest is open to all nationalities, ages and diseases. Every year hundreds of people from all around the world submit their photos, each reflecting the drive of people living with a rare disease worldwide.

Participate and submit your photo here.

Publication: “Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy”

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

Ataxia Global Conference 2022

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!)

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.

Publication: “Dystonia management across Europe within ERN-RND: current state and future challenges”

Article: Dystonia management across Europe within ERN-RND: current state and future challenges

Authors: Liesanne M Centen  , David Pinter  Martje E van Egmond Holm GraessnerNorbert Kovacs Anne Koy Belen Perez-DueñasCarola Reinhard Marina A J TijssenSylvia Boesch 

Published: October 2022

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

ERN-RND ANNUAL MEETING 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

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.