Category: News 2023

ERN Coordinators and Project Manager Meeting | Oct. 9.-10. 2023

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:

Call on the EU institutions and EU Member States’ governments to stand by the European Reference Networks

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

  • Secure long-term financial stability
  • Designate Affiliated Partners and expand the disease coverage
  • Support greater cross-ERN collaboration
  • Establish treatment eligibility and molecular therapeutic panels
  • Fully integrate ERNs into national health system services
  • Urgently define and systematically collect and monitor health and experienced-based outcome measures
  • Better support and recognition of the contribution of volunteer patient organisations, patient representatives, healthcare providers and clinicians in the Networks

The complete letter can be found here

Time to Act – Improving rare disease diagnosis and solving the unsolved rare disease through collaboration in europe

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.

35th Annual Meeting EACD

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.

More information

First Medication to Treat Friedreich’s Ataxia Approved on Rare Disease Day!

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

The ERN-RND Coordination Team shares its colors for Rare Disease Day 2023

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

Register now: ERICA Webinar

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

More information and register

Holm Graessner, coordinator of ERN-RND, obtains the EURORDIS European Rare Disease Leadership Award 2023

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/