Rare by name, common by impact: why Europe must act on Rare Diseases now

Rare diseases might seem to some like a niche issue, but the impact they have on millions of Europeans cannot be ignored any longer. The EU’s Action Plan is the policy we need to address this

By Alaa Hamed

Alaa Hamed is Global Head Specialty Care Rare Disease Medical Affairs at Sanofi

01 Apr 2026

Across Europe, more than 30 million people, or around one in 16, live with a rare disease1. Many rare diseases are chronic, lifelong and disabling, and roughly 90% lack approved therapies – even amid scientific breakthroughs2. While rare diseases affect more Europeans than diabetes and cancer combined, patients wait an average of five years for a diagnosis, and complex cases may take a decade or more of referrals before answers arrive3. For patients and families on this journey, time is not just precious; it is everything. With the new Multiannual Financial Framework pending, and an EU Action Plan on Rare Disease being discussed in the European Parliament, Europe has a window of opportunity to change lives and act now.


The Rare Diseases Forum 2026 comes at a crucial time for EU health policy: register and join the conversation


In order to deliver for rare diseases, coordination across three priorities is required. First, we must accelerate diagnosis through harmonised newborn screening and better medical education. Every child should have equal access to early detection regardless of where they are born. Second, sustain innovation by maintaining predictable incentive frameworks and deepening collaboration between academia, industry, and patient communities.

With only about a 6.2 per cent probability of success from laboratory to patient4, rare disease R&D needs long-term commitment and coherent policies. Third, ensure equitable access by sharing best practices among member states and enabling innovative payment models tailored to the unique nature of rare diseases. National action matters; European coordination, however, can multiply impact and reduce inequality.

With the World Health Organization expected to present a Global Rare Disease Action Plan by 2028, now is the time for Europe to shape the future

A European Rare Diseases Action Plan would provide an end-to-end framework, from discovery to faster diagnosis to equitable access. The action plan should strengthen funding for European Reference Networks (ERNs), promote public-private partnerships that accelerate discovery, and facilitate cross-border healthcare for specialised treatments. 

Europe has a legacy to build on. The Orphan Medicinal Products Regulation has enabled over 260 treatments to reach patients5; ERNs already connect expertise across borders, so no patient faces their condition alone. With the World Health Organization expected to present a Global Rare Disease Action Plan by 20286, now is the time for Europe to shape the future, aligning regulations, funding and research to deliver results that matter to people’s lives. 

The question is not whether Europe can afford to act, but whether we can afford the status quo that impacts more than 30 million people

The question is not whether Europe can afford to act, but whether we can afford the status quo that impacts more than 30 million people waiting for years for answers and treatments. Echoing the European Economic and Social Committee7, we look to the European Commission to table a funded Rare Disease Action Plan: one that strengthens ERNs, supports newborn screening, sustains incentives for innovation, and enables equitable access across member states. We also call for policymakers to work with a multi-stakeholder forum bringing together patient communities, industry, healthcare professionals, payers and member states to shape and implement this initiative together.

Europe can set the global standard for rare diseases. If we match political will with scientific progress, we can shorten the diagnostic journey, unlock much-needed therapies, and ensure access for all who need it – turning rare diseases into a policy priority, and not a postcode lottery. Together, we can turn momentum into measurable impact with purpose.  

List of references

  1. European Commission. Rare diseases - Public Health - European Commission.
  2. Kamphuis, B., De Jongh, T., Bastiaanssen, V., Tackling rare diseases – Challenges, opportunities and gaps for action on rare diseases in the European Union, Policy Department for Economic, Scientific and Quality of Life Policies at the request of the Committee on Public Health (SANT), European Parliament, 2024. Tackling rare diseases.
  3. Zurynski Y, et al. (2024). "Rare disease diagnosis in the age of genomic medicine." European Journal of Human Genetics. Nature. Available at: https://www.nature.com/articles/s41431-024-01604-z. Adachi T, El-Hattab AW, Jain R, Nogales Crespo KA, Quirland Lazo CI, Scarpa M, Summar M, Wattanasirichaigoon D. Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges. Int J Environ Res Public Health. 2023 Mar 8;20(6):4732.
  4. Wong CH, et al. (2019). "Estimation of clinical trial success rates and related parameters." Biostatistics, 20(2):273–286. Estimation of clinical trial success rates and related parameters | Biostatistics | Oxford Academic.
  5. European Medicines Agency. Orphan designation: Overview. Orphan designation: Overview | European Medicines Agency (EMA).
  6. World Health Organisation, Seventy-eighth World Health Assembly, 27 May 2025. Rare diseases: a globa health priority for equity and inclusion. Rare diseases: a global health priority for equity and inclusion.
  7. European Economic and Social Committee (2024). Opinion on Rare Diseases Action Plan, October 2024. Calling for an EU action plan on rare diseases | EESC.

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