Orphanet, the European reference portal for information on rare diseases and orphan drugs, has become part of the French Institute of Bioinformatics (IFB - L'Institut Français de Bioinformatique), the ELIXIR French Node.

Orphanet’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases. It offers a range of freely accessible services, including an inventory and a classification of rare diseases, inventory of orphan drugs, a directory of expert resources, and a diagnosis tool to search for rare diseases by signs and symptoms.

Bringing Orphanet under the umbrella of ELIXIR France will boost ELIXIR's capacity in rare diseases. Orphanet members and domain experts in rare diseases will in turn benefit from closer connection to ELIXIR bioinformatics community active in the field of rare diseases, including the on-going activities of the ELIXIR-EXCELERATE Rare Disease Use Case.  It will also open up new possibilities for joint projects and partnerships in the future.

Orphanet is a consortium of nearly 40 countries, led by France's Inserm (National Institute of Health and Medical Research). The French coordinating team is responsible for the infrastructure and management of Orphanet, and its tools. National teams collect information on expert centres, medical laboratories, ongoing research and patient organisations in their country.

IFB is funded through the Investments for the Future programme, and brings together bioinformatics communities of France's main research organisations: CNRS, INRA, INRIA, CEA, INSERM, CIRAD, the Pasteur and Curie Institutes, and French universities. There are currently 33 platforms grouped into six regional centres, coordinated by the national hub.