In the framework of the French Presidency of the Council of the European Union (PFUE 2022), and under the high patronage of the Ministry of Higher Education, Research and Innovation (MESRI), Inserm is organising a scientific symposium on Rare Diseases* to be held on 28 February 2022 at the Ministry of Solidarity and Health (salle Laroque - 14, avenue Duquesne - 75007 Paris – France)

A disease is said to be rare when it affects less than one person in 2,000. There are more than 7,000 identified rare diseases, 3/4 of which affect children. 80% of rare diseases are of genetic origin –the vast majority of which have no therapeutic treatment– and a quarter of patients are still waiting for their diagnosis after 5 years of evolution.

In Europe, this concerns 30 million people, with one tenth in France (4.5% of the national population). Strong support for research on rare diseases as well as the adoption of a National Plan for Rare Diseases/Plan national Maladies rares (PNMR) in 2005 have enabled France to position itself as one of the European leaders in research on this type of disease.

The challenge is to develop a strategy that strengthens the ecosystem between research, the health industry and the healthcare system, for the benefit of patients and their families. This implies creating synergies between all national research players, including all public sector disciplines and all research fields (basic, translational, clinical research, etc.), by strengthening funding and public/private partnerships and European/international collaborations, which are all key success factors. It is also a question of making the identification and recruitment of patients for the implementation of rare disease cohorts more fluid, and preparing the conditions for successful clinical trials in Europe.

The objective of this conference will be to review the current state of research and the means implemented for the diagnosis, care and treatment of these diseases, and the expected prospects for increased collaboration – between Member States, public and private partners, research actors – on a European scale.

^*This event is not organised by the French Government. However, it is authorised by the Government to use the emblem of the French Presidency of the Council of the European Union.

Scientific Committee
Serge AMSELEM (UMR-S 933 Inserm/Sorbonne Université, Paris), Claude FEREC, Yann LE CAM (EURORDIS), Stanislas LYONNET (Institut Imagine UMR 1163 Inserm/Université Paris Descartes, Paris), Frédérique MAGDINIER (UMR 1225 Inserm/Aix Marseille université), Alexandre MÉJAT (AFM-Téléthon), Sylvie Odent (CHU de Rennes, Rennes), Ana RATH (unité de service 14 Inserm Orphanet), Daniel SCHERMAN (Fondation Maladies Rares), Christel THAUVIN (UMR 1231 Inserm/CHU de Dijon, Dijon), Alain VERLOES (AP-HP, Paris), Xavier JEUNEMAITRE (AP-HP, Paris).

Organizing Committee
Guillaume FUSAI (département des partenariats et des relations extérieures - DPRE, Inserm, Paris), Daria JULKOWSKA (EJP RD, Paris), Catherine NGUYEN (Institut thématique Génétique, génomique, bioinformatique, Inserm, Paris), Véronique PAQUIS, Anne-Sophie LAPOINTE (DGOS, Paris).

Communication & Logistics
Myriem BELKACEM (département Information scientifique et communication - Disc, Inserm, Paris), Lætitia GAILLARD (Institut thématique Génétique, génomique, bioinformatique, Inserm, Paris), Estelle MOTTEZ (Institut thématique Génétique, génomique, bioinformatique, Inserm, Paris), Catherine NGUYEN (Institut thématique Génétique, génomique, bioinformatique, Inserm, Paris), Samia SAYAH (département Information scientifique et communication - Disc, Inserm, Paris).

As the maximum number of registrations to attend the conference in person has now been reached, you can still access the live video conference 28^th February, via Zoom by logging in at:

https://us02web.zoom.us/j/83235020347

Download the Zoom application if you do not already have it: