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EURORDIS-Rare Diseases Europe in 2025

January 2025
Virginie Bros-Facer standing at a podium at the ECRD 2024, smiling, with a microphone in front of her and a presentation screen displaying her name and photo in the background.
Virginie Bros-Facer speaking at the European Conference on Rare Diseases and Orphan Products 2024 © EURORDIS-Rare Diseases Europe

For many of us, the end-of-the year holidays are a time to connect with loved ones, share meaningful moment, and simply enjoying being there for one another. For families caring for someone living with a rare disease, this time should also offer an opportunity to find respite, feel supported, and recharge with love and energy for the year ahead.

I believe that caring, by showing concern, empathy, and kindness toward others, should guide both our relationships and decisions. When we care, and when we show that we care, we will achieve far more than we ever thought possible.

The first ten months as EURORDIS’ CEO have been even more intense and challenging than I had imagined. Yet, I have no regrets about taking the leap. The dedication of our team, the support of our partners and collaborators, and most importantly, the strength and resilience of all of you continue to inspire me every day. EURORDIS exists to serve you, our members, and together, we remain committed to addressing the hugely diverse needs of the rare disease patient community – because we care.

Three women standing on stage, with a pink and purple star-themed background. From left to right, recipients of the Media Award holding a trophy and Carrie Grant smiling, with a table of trophies in the background.
Recipients of the Media Award 2024 and Carrie Grant at the Black Pearl Awards 2024 © EURORDIS-Rare Diseases Europe

Key Highlights of 2024

In 2024, EURORDIS achieved remarkable milestones in its mission to support the rare disease community.

We began the year with the launch of the #ActRare2024 campaign on Rare Disease Day, calling on Members of the European Parliament to prioritise rare diseases and work towards a more inclusive EU. Advocacy remained central to our efforts, as we engaged with key parliamentary votes on pharmaceutical reform, health data, and the European Disability Card. In May, the European Conference on Rare Diseases – our key policy-shaping event – brought together over 700 participants from across the community. The conference concluded with an Open Letter to the European Commission, signed by over 1,000 organisations, urging the adoption of a comprehensive European strategy on rare diseases.

Our efforts to empower patients continued through the expansion of the EURORDIS Open Academy, which now serves nearly 4,600 users thanks to broader language offerings. In May, two Rare Barometer survey reports were published, highlighting strong community support for newborn screening and the persistent challenges of diagnostic delays, while a new survey exploring daily life with rare diseases was launched. To further strengthen patient involvement, we established the Patient Partnership Hub to support engagement in healthcare networks and introduced the Mental Health & Wellbeing Partnership Network to address the well-being of the rare disease community.

At the community level, our network grew to 1,089 member organisations across 75 countries, while global awareness soared with Rare Disease Day uniting 72 national partners, including six new countries.

On a broader scale, the JARDIN Joint Action was launched to support the integration of European Reference Networks (ERNs) into national health systems, ensuring equitable access to specialised care for people living with rare diseases. Additionally, EURORDIS played a key role in establishing the European Rare Diseases Research Alliance, marking a significant step towards advancing collaborative research across the rare disease community.

EURORDIS Open Academy participants, including individuals with disabilities and mobility aids, gathered outdoors in front of a building, smiling and waving enthusiastically at the camera.
Participants of the EURORDIS Open Academy 2024 © EURORDIS-Rare Diseases Europe

Looking Ahead: Rare Diseases in 2025

This year, EURORDIS will collaborate closely with the Polish and Danish Presidencies of the Council of the European Union, as well as newly elected and re-elected members of European Parliament and Commission. This year hold the promise of significant advancements through policy initiatives and collaborative actions, with the rare disease patient community playing a crucial role in advocating for an inclusive European Health Union.

A key focus will be to ensure the EU places health at the top of its agenda, including securing robust funding for EU4Health and related initiatives. This funding is crucial to translate scientific and technological advancements into tangible improvements and to ensure equitable access to healthcare for all across Europe.

In 2025, EURORDIS will focus on key areas that address the most pressing challenges faced by the rare disease community, ensuring progress in diagnosis, research, care, and access to treatments.

Earlier Diagnosis for People with Rare Diseases

Shortening the diagnostic journey for rare diseases is of paramount importance to our community. We are calling on the EU to promote initiatives that enhance cross-country cooperation on newborn screening (NBS), including aligning best practices, expanding the scope of rare diseases covered in NBS programmes, and sharing designs and results of genomic-based NBS pilot programmes. EURORDIS will continue to work with the Newborn Screening Working Group to advocate for a more equitable European approach to newborn screening and early diagnosis.

Innovative Research, Treatments, and Access

Research is essential for advancing the understanding, diagnosis, and treatment of rare diseases. To address existing inequalities, we are urging the EU to reduce delays caused by regulatory approval processes, explore early access programmes, and strengthen cooperation on pricing and negotiation for orphan medicines through voluntary centralised negotiation. Proposals for an EU solidarity fund for rare disease treatments are also being discussed to address health inequalities further. EURORDIS will advocate for improved clinical trials in the EU, greater availability of treatment alternatives – including advanced therapy medicinal products (ATMPs) and repurposing approaches – and stronger patient involvement in EMA and HTA activities.

Addressing Medicine Shortages for Rare Diseases

To ensure a secure and sustainable pharmaceutical supply chain, the EU must reduce its reliance on external producers and invest in Europe’s manufacturing infrastructure, especially for advanced therapy medicinal products. Together with our members, we will define our position on medicine shortages and put forward amendments to the European Commission’s proposal on the EU Critical Medicines Act to address the specific needs of the rare disease community.

Integrated, Person-Centred Care

Because of the complex nature of rare diseases, our community often requires specific care and support and is at risk of social isolation and discrimination. EURORDIS is calling on the EU to support the creation of a Mental Health & Wellbeing Toolkit for vulnerable populations and to integrate psychological support as an essential part of care. We will also work to ensure people with rare diseases are actively involved in shaping policies that improve holistic care, equitable access to disability rights, and independent living support.

Group photo of EURORDIS staff at the Paris office. The team is holding signs and posters promoting Rare Disease Day, with the event's colorful logo prominently displayed. Everyone is smiling and standing or sitting together in a bright room with large windows.
EURORDIS staff at the Paris office on the occasion of Rare Disease Day 2024 © EURORDIS-Rare Diseases Europe

Our Role in 2025

Throughout the year, EURORDIS will continue to play a key role in fostering community engagement and driving progress for the rare disease community. Key events, including the Black Pearl Awards and the Membership Meeting will serve as vital platforms for knowledge sharing, networking, and capacity building. The Rare Disease Day campaign will continue to be a focal point, emphasising the importance of awareness and equity in social opportunities and healthcare for our community.

EURORDIS will continue to represent the patients’ voice, working to strengthen the existing rare diseases ecosystem supported by the EU institutions and Member States. This involves ensuring patient involvement in policy development and advocating for initiatives that improve research, diagnosis, treatment access, and holistic care. EURORDIS will also place greater emphasis on underrepresented geographical and disease areas, ensuring their needs are addressed more effectively. By engaging in strategic collaborations and leveraging the advancements that 2025 promises, we seek to bring transformative changes for the benefit of the rare disease community.

By Virginie Bros-Facer,

Chief Executive Officer of EURORDIS-Rare Diseases Europe