Since 2017 Orphanet, the European rare disease and orphan drug knowledge-base bridging the spheres of healthcare and research, has worked with European Reference Networks (ERNs) to produce, improve and share information and data on rare diseases. This common endeavour aims to improve rare diseases patients’ lives by increasing knowledge and providing equal access to expertise. The Orphanet website, consulted by 1 million users per month from 236 different countries, zones and regions (according to the ISO code), helps to widely publicise the ERNs’ achievements, above all clinical practice guidelines, and allows every European to identify where ERNs’ expertise is located.

The coordination of complementary activities is a key action of the current direct grant supporting Orphanet, and offers continuity to the work started under the Joint Action on Rare Diseases, RD-Action. The activities are centred around improving and maintaining the standard Orphanet nomenclature of rare diseases (ORPHAcodes), the scientific annotations in Orphanet, as well as the production and dissemination of information materials on rare diseases, including abstracts co-produced by Orphanet and the ERNs. In addition, Orphanet and ERNs are working to ensure that all stakeholders have access to a directory of healthcare providers, patient support initiatives and research activities related to rare diseases in Member States, in particular the activities of the ERNs. Finally, a dedicated ERN section in OrphaNews International, Orphanet’s twice-monthly newsletter, provides a showcase for the ERN activities.

Orphanet’s expertise in standardising clinical information has been associated with rare diseases and the scientific expertise of the ERNs to ensure that the nomenclature and classifications reflect current scientific and clinical knowledge. This work provides stakeholders with a common, controlled language to improve the identification of patients and access to diagnosis and care. It helps better structure and optimise data on rare diseases, and to improve the interoperability between health information systems and research data. Several groups of diseases have been revised and finalised so far, including the Orphanet classifications of rare eye diseases (ERN-EYE), primary lymphedema (VASCERN), as well as rare kidney diseases (ERKNet). Orphanet is also working together with other ERNs, including ERN BOND, ERN CRANIO, ERN Skin, MetabERN, ERN EpiCARE, ERN TransplantChild, and ERN eUROGEN.

Orphanet is also collaborating with ERKnet, ERN ITHACA and ERN EpiCare to produce information for doctors and patients in a coordinated way together, and other collaborations will follow.

The RD-Code project co-funded by the EC will operate at national level to help Member States improve the gathering of information on rare diseases through the implementation of ORPHAcodes: the ERNs are indeed requested to use ORPHAcodes when using the clinical patient management system (CPMS). The ORPHAcode helpdesk offers assistance on using the Orphanet nomenclature and on inputting ORPHAcodes in the health information systems. This is of particular importance for the healthcare providers taking part in the ERNs.

By working together to reach common objectives, and enhancing their complementary expertise, Orphanet and the ERNs are aiming to ensure that those living with a rare disease in Europe receive the best information and care possible.

Orphanet is collecting expert recommendations and services, including those provided by European Reference Networks, concerning Covid-19 and rare diseases, in different languages. This list will be updated as new guidance is issued. Please contact media.orphanet@inserm.fr if you wish to add a resource to this list.