ERN ITHACA had the pleasure to contribute to the organisation of the Rare Disease Day, part of a week of activities aimed at raising awareness and providing information on rare diseases. Rare diseases currently affect 3 million people in France and 80% are of genetic origin. The event took place at the Robert Debré University Hospital in Paris (coordination site for ERN ITHACA) on 26 February 2020.

The Day involved several conferences dedicated to the themes of diagnosis, patient care, research, training, and the understanding of pathologies, with a focus on the essential action of the 38 Rare Disease Reference Centres of Robert-Debré University Hospital. The topics discussed included the patient cohort, innovation and trans-disciplinarity on rare-cause intellectual deficiencies service, therapeutic education, the complexity of the surgical management of rare malformations (Prune-Belly Syndrome) and the genetic characterisation of rare diseases.

Relevant patient organisations were invited to participate and discuss with the local public in a ‘Village associatif’: all day long, they provided information and guidance on several diseases listed as rare.

The full programme of the initiatives is available here.