About ERN eUROGEN

Our story

Millions of people are affected by uro-recto-genital conditions each year, but only a small fraction of these are rare. The EU generally defines a condition as rare when it affects fewer than 1 in 2,000 people (under 0.05%). For some highly complex uro-recto-genital conditions, the prevalence is far lower still: urethral diverticulum, for example, a localised outpouching of the urethra into the anterior vaginal wall, has an estimated annual incidence of 17.9 per 1,000,000 (0.002%).

ERN eUROGEN was established in 2017 in response to the European Commission’s call for the establishment of ERNs and has been coordinated by Radboudumc in the Netherlands since 2019, currently under Coordinator Prof. Peter Mulders.

Before ERN eUROGEN, patients with these conditions, and the clinicians treating them, were largely on their own. The limited expertise available was scattered among a small number of specialists and unique centres across different countries, making diagnosis, advice, and treatment harder to access.

One gap mattered particularly. Many rare uro-recto-genital conditions require surgical correction in the neonatal period or in childhood, but the people affected need life-long care from multi-disciplinary teams who plan and perform surgery and provide post-operative physiotherapy and psychological support. The specialists managing a child through surgery were often not the same people managing that person’s care as an adult, and outcomes data rarely followed the patient across that transition. ERN eUROGEN was formed to close that gap, connecting paediatric and adult specialists, centres, and patients working on the same conditions across borders.

Mission

ERN eUROGEN exists to pool the scattered expertise in rare uro-recto-genital diseases and complex conditions across Europe, so that patients get an accurate diagnosis, consistent best practice, and continuity of care from childhood through to adulthood, wherever they live. The network works with its member centres and partners (expert professional societies, individual specialists, and patient organisations) to extend outreach and support training, dissemination, and best-practice exchange.

Vision

We are working towards a future where rare uro-recto-genital conditions are diagnosed earlier, treated to a shared standard of best practice across Europe, and supported by a solid evidence base, so that as many patients as possible have equitable, efficient, and cost-effective access to the care they need, from birth through to end of life.

Reflecting how differently these conditions present across a lifetime, the network’s work covers three broad patient groups: children born with rare congenital uro-recto-genital anomalies, adults with functional conditions requiring highly specialised surgery, and patients of any age with rare uro-recto-genital tumours.

The network brings together specialised member centres and Supporting Partners across the EU, and its activity spans training and education, clinical guidelines, a long-term outcomes registry, and cross-border case discussion through the Clinical Patient Management System.

Patients and patient representatives

• Patients living with a rare disease or complex condition, and their families
• ERN Patient Advocacy Group (ePAG) representatives
• Non-partner patient, family, and advisory organisations

Healthcare providers and the research community

• Full Members and Affiliated Partners
• Non-member healthcare providers
• Researchers in the scientific and health community working on rare diseases and complex conditions
• Scientific, academic, and professional societies, including Supporting Partners and non-partner societies

Policymakers and public bodies

• Public health authorities and policymakers
• EU institutions
• (Sub)national authorities
• Regulatory agencies

Other networks and countries

• Other ERNs
• New Member States, and European and non-European countries outside the EU

Industry

• Pharmaceutical and medical device organisations

In the EU, rare diseases, including those of genetic origin, are life-threatening or chronically debilitating, and affect a small portion of the population: fewer than 5 in 10,000 EU citizens for any single disease.

Between 6,000 and 8,000 distinct rare diseases are estimated to exist today. While some affect only a handful of patients, others affect as many as 245,000. Added together, this means that between 27 and 36 million people in the EU live with a rare disease, and half a million people are diagnosed with one every year. Around 80% of rare diseases are genetic in origin, and 70% begin in childhood.

Health systems aim to provide high-quality, cost-effective care, but this is particularly hard to achieve for rare or low-prevalence conditions. Clinicians may have limited knowledge, information, and exposure to uncommon symptoms and disease mechanisms, and many patients undergo a long diagnostic odyssey before they receive answers.

The EU’s strategic objective for rare diseases is to improve patient access to diagnosis, information, and care. Part of how it does this is by pooling scarce expertise and resources spread across the EU, so patients and professionals can share knowledge regardless of where they are based. This is the reasoning behind the European Reference Networks.

European Reference Networks are virtual networks connecting healthcare providers, professionals, and patients across the EU/EEA. They tackle rare diseases and complex conditions that need highly specialised treatment, pooling knowledge and resources under a “Share. Care. Cure.” approach. Using technology and telemedicine, the networks bring together expertise that would otherwise be scattered across the EU, so it reaches the patient rather than the other way round.

ERNs are not a time-limited project. They are an EU initiative based on the 2011 Directive on Patients’ Rights in Cross-border Healthcare, built on a legal and policy framework that draws on a decade of earlier EU-funded projects and programmes.

The first 24 ERNs, including ERN eUROGEN, were formally approved and launched by the European Commission in March 2017, involving more than 900 specialised healthcare units from over 300 healthcare providers. In 2018, healthcare providers in countries without a Full Member were appointed as Affiliated Partners to extend coverage, and following a 2019 EC call for new members, the networks expanded again in January 2022. Today the ERNs include more than 1,400 healthcare units from around 400 providers across all 27 EU Member States and Norway.

Financial support for the ERNs is agreed between the Member States, the European Parliament, and the EC, and is currently provided through the EU4Health Programme, with grant management handled by the Health and Digital Executive Agency (HaDEA).