Aimee Casey
Communication Manager, Endo-ERN,
No country can tackle rare diseases alone, but cross-border networks can connect expertise to improve specialised care access.
Rare diseases affect around 30 million people across the European Union.1 While each condition is rare, the collective impact is substantial.
Challenge of diagnosis
For many, the path to diagnosis is long and uncertain: 50% of patients lack a precise diagnosis2; those that get one, can stay 5-7 years on average until reaching it — a journey often described as the diagnostic odyssey.3 Delayed diagnosis isn’t only frustrating and debilitating, but also reduces quality of life and prevents timely access to treatment.
European Reference Networks (ERNs), established by the European Commission in 2017, were created to address this by ensuring that expertise travels rather than the patient, promoting more equitable access to specialist care for people living with rare diseases across Europe.
ERNs bring together more than 1,600 specialised units across 375 hospitals, forming a single pool of rare disease expertise that no individual country could realistically build alone. There are 24 ERNs, each focused on a distinct group of rare or complex conditions, including genetic, endocrine, neurological and oncological diseases.
This shared structure allows clinicians to collaborate across borders, supporting earlier and more accurate diagnosis and enabling research in areas where patient numbers are too small at the national level to generate robust evidence.
Delayed diagnosis isn’t only frustrating and debilitating, but also reduces quality of life and prevents timely access to treatment.
Care without borders
Secure virtual collaboration is central to the ERN model. Using the Clinical Patient Management System (CPMS 2.0), clinicians can present complex patient cases to multidisciplinary expert panels across Europe. In 2023 and 2024, more than 2,100 virtual consultations took place, allowing patients to access specialist expertise without travelling.
ERNs contribute to rare disease research through data sharing, clinical collaboration and knowledge generation across borders. Education and training activities help build specialist capacity, while patient information is developed and endorsed in collaboration with European patient advocacy groups, ensuring care is informed by lived experience and clinical expertise.
By connecting expertise, supporting research and enabling collaboration across borders, ERNs demonstrate how European cooperation can improve equity, diagnosis and specialised care access, regardless of where patients live.
[1] EURODIS. #30millionreasons for Europe to take action on rare diseases.
[2] Boycott, K et al. (2021). The poor diagnosis of rare diseases: Overcoming deficits in information, awareness, and understanding. Science Webinars.
[3] NORD. (2023). Re: FY 2023 Hospital Inpatient Prospective Payment Systems for Acute Care Hospitals (CMS1771-P) – NORD Rare Disease Centers of Excellence Program.
