The OrphaNews editorial team wishes all of our readers a wonderful holiday season, and a happy start to 2026. The next edition of OrphaNews will be published at the end of January.
Season's greetings from Orphanet!
Editorial
Rare Disease Day 2026: The countdown begins!
The countdown has begun for Rare Disease Day 2026! Held each year on the last day of February and coordinated by EURORDIS, the Day is a key moment for the 300 million people living with rare diseases worldwide to step into the light, share their stories, and make their voices heard. This year’s campaign centres equity and representation, reminding all that people living with a rare disease, and those who support them, deserve to have a meaningful voice in the decisions that shape their lives.
On 28th February 2026, groups around the world will organise events for local rare disease communities to come together and raise awareness about their shared challenges. To learn more about Rare Disease Day and events happening near you, you can explore the website in your local language.
In anticipation of Rare Disease Day, a campaign video has been released featuring five individuals from different countries. Their stories offer a glimpse into the daily realities of rare diseases, and a reminder of the courage, strength, and resilience found across the community. The video is available on Rare Disease Day’s website and YouTube channel, and has been made available in over 70 languages by national alliance partners.
Spotlight
Towards a European Declaration on rare diseases: Outcomes of the high-level meeting on RD
From 9-11 December 2025, a high-level meeting on a European Innovation and Care Ecosystem for Rare and Complex Diseases was held in Brussels. Hosted by the European Reference Networks, MEP Vytenis Andriukaitis (S&D, Lithuania) and the Brains for Brain Foundation, this event brought together a diverse group of stakeholders to discuss the way forward for strengthening the rare disease research and innovation ecosystem across Europe.
Over the course of three days, the meeting focused on three priorities: strengthening science and translational pipelines; building pan-EU infrastructure; and creating a coherent policy and funding framework to combat fragmentation and to support cross-border care.
Photo credit: EURORDIS
The results of each day’s discussions culminated in the launch of the Declaration on the European Innovation and Care Ecosystem for Rare and Complex Diseases. This document was created in response to the persistently high level of unmet medical need among Europe’s rare disease community, and sets out a shared vision, with clear strategic priorities and a roadmap to building a reinforced, equitable policy framework for rare diseases in the EU. Ultimately, the Declaration calls for the improvement of patient outcomes through the development of a European Action Plan on Rare Diseases, alongside accelerated progress in research and innovation.
Goals and priorities of the Declaration (open in new tab to enlarge)
With the launch of this Declaration, the EU is closer than ever to a common roadmap for rare diseases. However, work still remains to be done, including the formal endorsement of the Declaration and agreement on a dedicated EU Action Plan.
ERN News
First ERN monitoring report published
On 17 November, the European Commission published the first monitoring report of the European Reference Networks (ERNs), demonstrating how they have grown since their creation in 2017. This document compiles data reported to the Commission by the ERNs in order to provide insight into the different areas of work of the ERNs, their reach, impact and added value for patients living with a rare disease and their families. The report also aims to increase the awareness and visibility of the ERNs.
The ERN monitoring report presents data for each ERN on a number of indicators, which cover their seven core work areas: coordination, dissemination, evaluation, healthcare and clinical patient management system (CPMS), registries, training and education, and clinical practice guidelines and other clinical decision support tools.
Some of the key findings presented in the report include a 160% growth in the number of new patients referred to ERN clinical centres between 2018 and 2024, alongside strengthened cross-border care pathways, increased uptake of ORPHAcodes, and expanded education and training activities.
Consultation on Commission's budget proposal unveils strong support for ERNs
Earlier this year, the European Commission unveiled its proposed Multiannual Financial Framework (MFF) for 2028 to 2034. Rather than introduce a new standalone health programme as a direct successor to EU4Health, the proposed MFF would roll health spending into a new European Competitiveness Fund (ECF) aimed primarily at industrial competitiveness. Crucially, the ECF does not currently contain any specific mention of rare diseases or ERNs.
A public consultation was held on the draft proposal, and the feedback submitted is now available on the Commission’s website. The ERN eUROGEN has published an analysis of these responses, demonstrating the high level of engagement from rare disease stakeholders, who are calling for the inclusion of the ERNs in the MFF. In fact, 66% of all feedback received was focused specifically on ERNs.
The MFF proposal is currently in political negotiations, with discussions expected to run into 2026. The ERN Coordinators Group is actively engaging with MEPs and national representatives to advocate for the explicit inclusion of rare diseases and ERNs in the amendments to come.
ERN ReCONNET survey on self-management of digital ulcers in systemic sclerosis
The ERN ReCONNET is conducting a survey on the assessment and self-management of digital lesions (including digital ulcers) in people living with systemic sclerosis. This survey is aimed at people living with systemic sclerosis, and is available in nine languages: Italian, English, Romanian, French, Spanish, Portuguese, Dutch, Latvian, and Danish. It will remain open until 15 January 2026.
Recent articles and resources published by ERNs
Below, you will find a list of recent scientific articles, webinar recordings, and other resources published by various ERNs which may be of interest to our readers. More information about each resource can be found by following the hyperlinks provided.
Orphanet News
ECRD 2026: Submit your poster abstract & register now!
Registration is now open for the European Conference on Rare Diseases (ECRD) 2026! This conference, organised by EURORDIS and co-organised by Orphanet, brings together patient advocates alongside policymakers, industry representatives, clinicians, regulators, and Member State officials, to work together to advance goal-driven policies that improve the lives of people living with a rare disease and their families.
We are also thrilled to announce that ECRD 2026 is now accepting poster abstract submissions. This is an excellent opportunity for patient groups, academics, healthcare professionals, and others involved in rare disease research or public health projects to contribute and share their insights.
Submission Guidelines
Submissions should be in English and are limited to 300 words. Participants can be co-authors of multiple poster abstracts, but can be the representing author of one. Additionally, representing authors of acepted posters must register to attend ECRD 2026, either onsite or online, to ensure their posters are displayed. We also accept posters that have been presented at other events.
Accepted Posters
All accepted posters will be available on the ECRD 2026 virtual platform, facilitating interaction, Q&A sessions, and networking. The top three posters will receive an award, and selected authors will have the chance to present their work live during the conference. Furthermore, authors of the top 40 posters will be invited to submit their abstracts for publication in a special edition of the Orphanet Journal of Rare Diseases (OJRD).
Selection Process
The ECRD 2026 Poster Committee will review submissions in March, and authors will be notified of the results in early April. Posters will be evaluated based on relevance to rare diseases, quality of content, originality, and practical application. It's important to note that while we encourage scientific contributions, posters must align with the conference's focus and themes. Case reports will not be accepted.
Disqualification Criteria
Submissions promoting commercial products, not adhering to the guidelines, submitted after the deadline, or through incorrect channels will be disqualified.
This is your chance to be part of a vital conference in the rare disease community. Don't miss the opportunity to share your work, connect with peers, and contribute to advancing knowledge and practices in the field.
For more information or any queries, please visit the ECRD website or contact the ECRD support team.