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The Plateforme d'Expertise Maladies Rares de la APHM (PEMR APHM), the Alliance Maladies Rares PACA-Corse and the Marseille Maladies Rares Institute (MarMaRa) are co-organizing the International Rare Diseases Day, on February 28, 2025 to exchange ideas around several scientific conferences and with the patient associations present.

Rare disease patient associations present: AtmosR HTaPFrance Réseau-Lucioles, Association Française des Dysplasies Ectodermiques, Association Française du Syndrome d'Ondine (Afso), Agir Malformation Lymphatique Alliance (AMLA), Association pour Aider, Informer, Soutenir, Etudes et Research pour la Synringomyelie et Chiari (APAISER), Association des Glycogénoses, Association Française de la Maladie de Fanconi (AFMF).

📅Date: Friday, February 28, 2025

📍Location: Amphithéâtre HA1, Hôpital de la Timone, 13005 Marseille, France.

✅Registration is free but mandatory: https: //columbo.univ-amu.fr/index.php/622182?lang=fr

Program

9:30am: Welcome coffee

10h-10h10: Introduction - Pr Brigitte CHABROL and Mme Emilie GARRIDO-PRADALIE, Heads of the Plateforme d'Expertise Maladies Rares de l'AP-HM; Dr Frédérique MAGDINIER, Director of Institut MarMaRa and MMG laboratory; Mme Maggy SURACE, President HTaP France

10h15-11h10: Gene therapy

  1. Current status of basic research - Dr Marc BARTOLI
  2. Gene therapy clinical projects in neuropediatrics - Dr Cécile HALBERT, Dr Flavia PIAZZON
  3. Interviews with rare disease patients [video]

11h10-11h30: Access to new therapies at AP-HM - Dr Bertrand POURROY, Dr Véronique BOURGAREL

11:30am-11:50am: Repositioning molecules and pleotherapy: a strategy still relevant in 2025 - Pr Shahram ATTARIAN

11:50am-12pm: Espace Rencontre Maladies Rares: opening of a hotline for patients

12-14pm: Lunch break

14h-14h10: Participatory research in rare diseases: for whom? how? why? - Dr Nathalie LALEVÉE

2.10pm-2.30pm: An example of collaboration between the MMG laboratory and the AFSO association in the search for new treatments for Ondine syndrome - Dr Jean-Charles VIEMARI (introduction by Xénia PROTON DE LA CHAPELLE)

14h30-14h50: Training patients in Research - Ms Marion MATHIEU (TOUS CHERCHEURS)

2:50pm-3:20pm: Therapeutic education programs (ETP) at AP-HM

  1. Current status of ETPs in rare disease centers - Dr Marie-Claude LAGUANELLE
  2. Presentation of ETP programs in rare disease centers
  • Scleroderma (Adults) - Pr Brigitte GRANEL
  • Sickle cell disease (Adults) - Mrs Imane AGOUTI
  • Sphincter disorders (Children) - Dr Mirna HADDAD
  • Pituitary and adrenal insufficiency (Children) - Dr Sarah CASTETS

15h20-15h30: Conclusions - Pr Brigitte CHABROL and Ms Emilie GARRIDO-PRADALIE, Heads of theAP-HM's Plateforme d'Expertise Maladies Rares; Dr Frédérique MAGDINIER, Director of the Institut MarMaRa and the MMG laboratory.

JIMR 2025 program pdf - 4.07 MB