International Rare Diseases Day 2025: A massive commitment to raising awareness

International Rare Diseases Day: a massive commitment to raising awareness

On the occasion of International Rare Disease Day, this year on February 28, 2025, Aix-Marseille Université via the Institut Marseille Maladies Rares (MarMarRa) has once again mobilized with its partners: the Plateforme d'Expertise des Maladies Rares de l'AP-HM (PEMR, AP-HM) and the Alliance Maladies Rares PACA Corse to give visibility to rare diseases, which affect less than one in 2,000 people in Europe.

During the first half-day, on February 25, with the presence of the Filière de Santé Maladies Rares FIMATHO, we will be meeting future healthcare professionals in Marseille's faculties of medicine and pharmacy, to exchange ideas and raise awareness of the issues surrounding rare diseases, their specificities and their challenges. This national operation, coordinated by the Alliance Maladies Rares (representing 240 rare disease associations), enabled us to meet a wide audience of students, curious and sensitive to the cause.

MarMaRa, federating research and training on rare diseases

On Friday February 28, MarMaRa also co-organized a full-day conference with 12 patient associations* and partners, at the Timone Adulte hospital. This major event attracted over 200 participants this year! The day was marked by a number of high points dedicated to exchanges, therapeutic education, research, and support for rare disease patients in their healthcare journey.

In-depth discussions on innovative therapies

The morning was devoted to therapeutic advances in the field of rare diseases. The event was opened by Marc Bartoli, head of the translational neuromyology team at the Marseille Medical Genetics (MMG) laboratory, who discussed the limits and prospects of gene therapy.

Drs Cécile Halbert and Flavia Piazzon then presented clinical research in neuropediatrics carried out at the Hôpital de la Timone Enfants, notably on Duchenne muscular dystrophy, spinal muscular atrophy and Angelman syndrome. They also explored potential treatments for metabolic diseases.
To complement the experts' presentations, a video featuring testimonials from patients and parents of patients was shown, highlighting the day-to-day reality of families affected by these innovative therapies.

A gateway to innovative medicines and new approaches

Following the video, Drs Véronique Bourgarel and Guillaume Sicard discussed innovative drugs and their applications at AP-HM. To round off this first session, Professor Shahram Attarian presented the concept of drug repositioning, a method for discovering new uses for existing molecules.

A patient-focused day

The afternoon was devoted to the therapeutic protocols in place to support patients. Mrs. Émilie Garrido Pradalie announced the opening of a reception and information desk for rare disease patients, starting March 5 at Marseille's Hôpital Nord. A dedicated meeting place to provide support and information to those concerned.

Doctor Laurent Fasano then introduced the concept of participatory research, a model for collaboration between researchers and civil society players, aimed at enriching research practices through the experience of patients and their families.

Innovative projects and collaborations

Xénia Proton de la Chapelle, representative of the Association Française du Syndrome d'Ondine (AFSO), and founder of the biotechnology company AtmosR, joined Dr Jean-Charles Viemari in presenting the collaboration between MMG and AFSO in the search for new treatments for Ondine syndrome.
Marion Mathieu, scientific trainer at the Tous Chercheurs association, then presented training initiatives aimed at raising awareness of the research profession among patients themselves, with a particular focus on training for teenagers with rare genetic diseases.

Therapeutic education and future prospects

Dr. Marie-Claude Lagouanelle, referent for therapeutic patient education programs at AP-HM, concluded the day's proceedings with an overview of the current state of therapeutic patient education at AP-HM. Four speakers then took the floor to present their work in therapeutic education programs: Professor Brigitte Granel (Scleroderma), Mrs. Imane Agouti (Sickle Cell Disease and Thalassemia), Doctor Mirna Haddad (Sphincter Disorders) and Doctor Sarah Castets (Pituitary and Adrenal Insufficiency).

The day provided an opportunity for fruitful exchanges and opened up new perspectives for all concerned, highlighting the importance of support for patients with rare diseases and those affected by them.

A big THANK YOU to all the speakers, patient and family associations, organizers and participants. We look forward to seeing you next year at JIMR 2026!

*Patient associations : RecherchThon, Association APAISER S&C, Association Sliver Russel PAG, Alliance Maladies Rares, HTaPFrance, Association AMLA, Association Grandir, AtmosR, Association Française Syndrome D'Ondine, Association française des Dysplasies Ectodermiques, Association Soliane and ANHET