FH Europe Foundation was proud to contribute to the development of the
European Blueprint for Rare Diseases through participation in the European Regional Task Force. This work represents an important opportunity to ensure that the experiences of people living with inherited lipid conditions are reflected in future European and global health policies.
While FH Europe Foundation often focuses on inherited lipid conditions within the field of cardiovascular health, many of the challenges faced by our community are shared across the wider rare disease landscape. Delayed diagnosis, unequal access to specialised care, fragmented healthcare pathways, limited treatment options, the burden on mental health, and the need for stronger patient support remain common issues across Europe and beyond.
The publication of the European Blueprint for Rare Diseases provides a roadmap for addressing these challenges through coordinated action at European, national, and global levels.
What Is the European Rare Disease Blueprint?
Led by EURORDIS-Rare Diseases Europe, the Blueprint is a community-driven framework designed to support the development of a future EU Action Plan on Rare Diseases and contribute to broader global rare disease policy discussions. The Blueprint was developed through extensive collaboration involving:
The initiative recognises that Europe has built many important rare disease structures and programmes, including the European Reference Networks, Orphanet, and ERDERA. However, these initiatives do not always operate as a coordinated system, leading to variation in patient outcomes and access across countries.
The Blueprint therefore focuses on creating stronger connections between existing initiatives while identifying gaps that still need to be addressed.
FH Europe Foundation's Contribution
FH Europe Foundation participated in the European Regional Task Force, established by EURORDIS in collaboration with Rare Diseases International (RDI) [about the
process]. The Task Force brought together patient advocates and rare disease organisations from across the WHO European Region to contribute evidence, share expertise, and develop recommendations for future action.
Through our participation, we were able to bring forward the experiences of people living with inherited lipid conditions and highlight issues that are highly relevant to our community, including:
- Earlier diagnosis and family screening
- Access to specialist care
- Cross-border expertise
- Lifelong management of inherited conditions
- Patient education and empowerment
- Data collection and registries
- Equitable access to treatment and innovation
Key Priorities in the Blueprint
The Blueprint proposes 18 priority actions across six major areas:
- Earlier and More Accurate Diagnosis: Many rare disease patients wait years for a diagnosis. Earlier identification improves outcomes and access to appropriate care. This is particularly relevant for inherited lipid conditions where early detection can prevent cardiovascular events and improve long-term health outcomes.
- Access to Specialised Healthcare: Patients should have access to expert centres and multidisciplinary care regardless of where they live. The Blueprint calls for stronger networks and better coordination across healthcare systems.
- Integrated, Person-Centred Care: People living with rare diseases often require support across multiple healthcare specialties and life stages. Integrated care models can help reduce fragmentation and improve quality of life.
- Social Inclusion: The Blueprint recognises that rare diseases affect far more than physical health and can impact education, employment, mental wellbeing, and participation in society.
- Data and Registries: Better data collection and interoperability are essential for research, understanding population needs, and measuring outcomes.
- Research and Access to Innovation: The Blueprint supports stronger research collaboration and improved access to medicines, medical devices, and future innovations.
Learning from EUPATI: Patients as Equal Partners
Alongside our involvement in rare disease policy discussions, FH Europe Foundation has participated in patient engagement initiatives through EUPATI (European Patients' Academy on Therapeutic Innovation).
Discussions during EUPATI workshops reinforced an increasingly important principle across healthcare: Patients should not simply be consulted. They should be involved as equal partners in designing healthcare systems, research programmes, and policies.
EUPATI's work highlights the importance of:
These discussions strongly aligned with the principles underpinning the European Blueprint and reflected many of the values that FH Europe Foundation promotes through its advocacy, Ambassador programmes, and community engagement activities. For our community, this means continuing to strengthen patient leadership and ensuring that people living with inherited lipid conditions have a seat at every table where decisions are being made.
A Historic Milestone: WHO Recognises Rare Diseases as a Global Health Priority
In May 2025, the World Health Organization (WHO) adopted the landmark resolution"Rare Diseases: a Global Health Priority for Equity and Inclusion" (WHA78.11). This marked the first time rare diseases were formally recognised as a global health priority by Member States.
The resolution recognises that:
The WHO resolution calls on countries to:
For the FH community, this recognition represents an important step towards ensuring that people affected by inherited lipid conditions are not left behind in future healthcare planning.
The Next Phase: WHO's 10-Year Global Action Plan
Perhaps the most significant outcome of the WHO resolution is the commitment to develop a 10-year Global Action Plan on Rare Diseases.
According to WHO's published roadmap:
2026
2027
2028
Importantly, the European Blueprint was intentionally designed to help inform Europe's contribution to this future Global Action Plan.
This means the work undertaken by EURORDIS, the European Regional Task Force, and participating organisations such as FH Europe Foundation has the potential to influence rare disease policy far beyond Europe.
Rare Disease Momentum Is Growing Globally
The rare disease agenda is advancing not only in Europe but around the world.
In the United States, the
FDA Rare Disease Innovation Hub was established to improve coordination across the FDA and strengthen support for the development of treatments for people living with rare diseases. Its strategic agenda includes improving regulatory science, fostering collaboration, and strengthening engagement with patient communities.
More recently, the FDA launched the
Rare Disease Framework Initiative, which aims to create a more tailored and flexible approach to rare disease drug development that reflects the realities of small patient populations and unmet medical needs.
These developments demonstrate that rare diseases are increasingly being recognised as a priority area within global healthcare and regulatory systems.
National Plans Are Driving Change
The Blueprint also builds on lessons learned from national rare disease strategies.
United Kingdom
France
France remains one of Europe's longest-standing leaders in rare disease policy through its national plans. Its fourth plan, PNMR4, includes:
These examples demonstrate how coordinated strategies can drive tangible improvements for rare disease communities.
Why This Matters for FH Europe Foundation
The European Rare Disease Blueprint represents far more than a policy document.
It reflects a growing recognition that people living with rare diseases must be partners in decisions that affect their lives. It reinforces the importance of early diagnosis, specialist care, patient education, research, social inclusion, and equitable access to innovation.
These are principles that closely align with FH Europe Foundation's mission and ongoing work across Europe.
Through our involvement in the European Regional Task Force, participation in initiatives focused on patient engagement, and our continued commitment to empowering people living with inherited lipid conditions, we are proud to contribute to shaping the future of rare disease policy.
As Europe moves towards a future EU Action Plan on Rare Diseases and the WHO develops its Global Action Plan, it will be essential that patients and families remain at the centre of these conversations.
Because meaningful progress happens when those living with a condition help shape the solutions.
Further Reading
WHO
Rare Diseases International
