Rare diseases (RD) have been considered a challenge for Europe, for they have been identified as one of the paradigmatic fields in which actions conducted at the European level constitute the adequate response to their specific problems: poor recognition leading to diagnostic delay and inappropriate management including adapted social services, poor health outcomes, social burden, limited knowledge on natural history and pathophysiology leading to an insufficient development of new therapies. Amongst the key actions the European Commission (EC) has contributed to develop so far in order to address key priorities in the field of RD there is Orphanet, a European Knowledge base dedicated to RD and orphan drugs, accessible from the portal www.orpha.net, and providing re-usable data through the platform www.orphadata.org. Orphanet has also be recognised, by the EC , as having a de facto monopoly in its field. The objectives of the project are:
1. To provide the RD community with interoperability tools, in particular around an inventory of RD, to allow for semantic interoperability between countries and between domains (health, research)
2. To provide high-quality information on RD, in particular through an encyclopedia in several languages,
3. To provide a directory of expert services in order to help patients, physicians and stakeholders finding the expertise on a particular disease in Europe and beyond, and to produce data needed to support policy actions.
4. To further develop and sustain Orphanet as the reference knowledge base on RD, by establishing and consolidating collaboration within the Orphanet pan-European network and with European Reference Networks (ERNs) for the production, improvement and dissemination of knowledge on rare diseases. It will allow for the creation of a consistent expertise ecosystem for rare diseases in Europe.
The overall outcome is the consolidation of Orphanet as the reference source of information on RD for European citizens.

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Topic: 4.2 Support Member States, patient organisations and stakeholders by coordinated action at Union level in order to effectively help patients affected by rare diseases. This includes the creation of reference networks (in compliance with point 4.1), Union wide information databases and registries for rare diseases based on common criteria.
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The ERN for rare and complex urogenital diseases and conditions ERN eUROGEN will deliver quicker specialist evaluation and more equitable access to high quality diagnosis, treatment and care for patients with rare urogenital diseases and complex conditions who need highly specialised assessment and surgery. We will train the next generation of surgeons to increase skill levels and improve outcomes. A priority will be transferring knowledge and training to the Member States with less expertise, thereby increasing the quality of surgical outcomes across Europe. Educational and research strategies will be developed together with patients and patient representatives involved in the relevant disease areas.

ERN eUROGEN comprises 3 workstreams (WS). Focusing on clinical and surgical excellence, we will ensure continuity of care from childhood throughout the lifespan of the patient encompassing the important and often neglected adolescent period of urogenital practice:
WS1 - rare congenital uro-recto-genital anomalies
WS2 - functional urogenital conditions requiring highly specialised surgery
WS3 - rare urogenital tumours

ERN eUROGEN will create faster and more equitable access to high quality diagnosis and treatment advice, guideline development and sharing of best practice care for patients with rare urogenital diseases and complex conditions who need highly specialised surgery. We have 3 broad workstreams to ensure that as many of our patients as possible can receive high quality specialist care from birth through to the end of life. Patients have reported a lack of adequate care when transitioning from paediatric to adult urogenital care. Processes will be put into place to transfer the care of these patients from paediatric to adult specialists and European virtual Multi-disciplinary Teams including the healthcare providers with expertise in the area will be used for case discussions and recommendations for treatment and ongoing care.
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Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources or expertise, as in the case of rare diseases, on the basis of criteria to be established under Directive 2011/24/EU.
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