International Rare Disease Day: a collective commitment to raising awareness

There are almost 7,000 rare diseases, affecting 1 in 2,000 people, i.e. almost 3 million patients in France and 300 million worldwide, and representing a real public health challenge.

Within the Université Aix Marseille, the Marseille Maladies Rares (MarMaRa) institute federates all the players involved in research and training, in order to promote collaboration not only with academics, but also with all the socio-economic partners involved in rare diseases (associations, alliances, hospitals, industry, private sector).

Within theAPHM (Assistance Publique - Hopitaux de Marseille), rare disease activity is rich: 87 reference and competence centers are present in the departments and take care of more than 50,000 patients per year, coordinated by the APHM Rare Disease Expertise Platform (PEMR APHM).

Once again this year, the Institut MarMaRa, the Plateforme d'Expertise Maladies Rares de l'APHM (PEMR APHM) and the Alliance Maladies Rares, PACA Corse delegation, have coordinated the organization of International Rare Disease Day, in the form of a day of conferences and meetings at the Hôpital de la Timone in Marseille, with the aim of raising public awareness of this cause.

The day brought together over 150 participants, including patients, caregivers, families and associations, as well as professionals: clinicians, researchers, students, health professionals, etc.

The day focused on 3 major themes: program and detailed PDF booklet here

  • Patient partnership
  • The role of caregivers
    • A round-table discussion brought together caregivers and two moderators to discuss the essential role they play in the lives of patients and their families, as well as the difficulties they encounter on a daily basis.
    • Article from La Provence newspaper dated 03/21/26 here
  • Sport and rare diseases
    • a film presenting the testimonies of 4 sports patients and their practices introduced the session.

17 Associations were present in a village of stands throughout the day, and were able to exchange views with everyone during the lunch break: Alliance Maladies Rares, Amadys dystonies, Association APAISER S&C, Sophie B-G l'Equilibre Essentiel, Association AFMB (Association Française pour la Maladie de Blount), Cab'Plongée, CMT-France, Dunes d'Espoir, Association française des Dysplasies Ectodermiques, Association française des hémophiles (AFH), HTaPFrance, Association Huntington France, Association Noonan, Premiers de Cordée, Association Sliver Russel PAG, RecherchThon, Tous Chercheurs.

A big THANK YOU to all the speakers, patient and caregiver associations, organizers and participants. We look forward to seeing you next year at JIMR 2027!

Read the article from PEMR, AP-HM: https: //fr.ap-hm.fr/site/maladiesrares/actu/un-grand-succes-pour-la-journee-des-maladies-rares-2026