On October 7 and 8, 2025, the Cité Internationale Universitaire de Paris hosted the latest edition of Rencontres RARE. This biannual event has established itself as a must-attend gathering for the entire rare disease community in France, bringing together public decision-makers, patient and caregiver representatives, healthcare professionals, researchers, and pharmaceutical companies.
This 2025 edition, officially opened by Marie Daudé, Director of the Directorate General for Healthcare Provision (DGOS), and attended by numerous stakeholders involved in the rare disease community, highlighted major advances in research and the management of rare diseases, while also fitting in with the recent launch of the 4th National Plan for Rare Diseases (PNMR4). These two days provided a unique opportunity for reflection on all aspects of the patient journey: from diagnosis to the development of therapeutic solutions, including organizational and social innovations.
A Promising Institutional Context: The PNMR4
The 2025 edition of Rencontres RARE took place in a particularly dynamic context, marked by the launch of the 4th National Plan for Rare Diseases on February 25, 2025. This strategic plan, covering the period 2025-2030 and entitled "From territories to Europe," aims to strengthen the care provided to the 3 million French people affected by a rare disease. With a budget of €223 million per year, including €36 million in new funding allocated to rare disease reference centers, the PNMR4 is structured around four major strategic areas: improving quality of life and care, facilitating and accelerating diagnosis, promoting access to treatment, and developing databases and biobanks.
This inaugural session addressed the health and research aspects of the plan, its origins and implementation, providing participants with a comprehensive understanding of the strategic directions for the next five years.
European and International Issues
This inaugural session was followed by a session dedicated to European and international issues relating to rare diseases. This second session highlighted several programs that are essential for European coordination: the ERDERA European Research Program, the JARDIN European Clinical Program, the ORPHA Code for the classification of rare diseases, as well as European regulations and international initiatives led by Rare Disease International and the International Rare Disease Research Consortium (IRDiRC).
The Genetic Revolution at the Heart of Congress
One of the key themes of the 2025 edition was genetics, with a session entitled "Genetics: Evolution and Revolution." This session, divided into four sub-sessions, explored several crucial aspects of modern genetics in rare diseases: neonatal screening, the issue of variants of uncertain significance (VUS), autoinflammatory diseases, and treatments for genetic diseases.
Neonatal screening is a major public health issue. In France, this national program covers all newborns and enables the early detection of rare, severe, and most often genetic diseases. Since September 2025, screening has been extended to 16 diseases, including severe combined immunodeficiencies (SCID), infantile spinal muscular atrophy (SMA), and VLCAD deficiency. This extension is fully in line with the objectives of the PNMR4 and reflects the constant progress being made in this field.
The PERIGENOMED project represents a revolutionary advance in neonatal screening. This pilot project, co-financed by AFM-Telethon, aims to enable the sequencing of infants' genomes from a few drops of blood, with the goal of screening for more than 800 rare diseases, mainly of genetic origin, for which effective early treatment exists. The first phase is expected to include 2,500 newborns in five French maternity wards or hospitals, followed by a second phase involving an additional 19,000 babies monitored over a period of five years.
The session also addressed the complex issue of variants of uncertain or unknown significance (VUS), with concrete examples such as the MEFV gene and familial Mediterranean fever (FMF). Autoinflammatory diseases were the focus of particular attention, notably with the presentation of the "crazy story of VEXAS," a somatic autoinflammatory disease that illustrates advances in the field of "genotyping first."
Innovative Therapies: Growing Hope
The session devoted to the treatment of genetic diseases highlighted the extraordinary progress made in the field of gene and cell therapies. In particular, it traced the history of gene therapies, their remarkable advances, but also their limitations, notably inflammatory phenomena and immune issues.Gene therapy now offers new hope for millions of people with rare genetic diseases. This revolutionary approach involves importing genetic material into a target cell to correct the cause of a genetic disease. The most promising technologies, such as CRISPR-Cas9, allow specific DNA sequences to be targeted and modified with near-surgical precision, offering potentially curative treatments for previously incurable diseases.A testimonial from a patient's parent brought these prospects to life, reminding us that, beyond the scientific data, these innovations have a very real impact on the hope, daily lives, and future prospects of the families concerned.
Access to Innovation and Clinical Research
The session on October 8 dedicated to access to innovation, from clinical research to patient access to innovations, was a key moment of the congress. This session addressed the challenges of clinical research in France and the actions implemented at the European level to develop this research.
A round table brought together various stakeholders to discuss innovation for patients with rare diseases: artificial intelligence and digital twins, ERNs, the French National Agency for Medicines and Health Products Safety (ANSM), the French National Authority for Health (HAS), manufacturers, and patient representatives. This diversity of participants provided an insight into the complexity of the therapeutic innovation process, from its conception to its actual availability to patients.
City-Hospital Coordination and New Diagnostic Tools
A dedicated session was held on community-hospital care and follow-up. This fundamental issue for ensuring continuity of care for patients with rare diseases highlighted several challenges: community-hospital-community coordination to ensure equitable access to care, therapeutic patient education (TPE), and the role of the primary care physician as a true healthcare partner.
A major advocacy survey by the Rare Diseases Alliance was presented, focusing on the monitoring and coordination of city/hospital/city and city/city links. The Article 51 experiment of the AFM-Telethon support model was also shared, illustrating the lessons learned from innovation in the city-home-hospital link. A round table discussion provided an opportunity to gather feedback from various stakeholders: a patient's testimony, the perspective of a practitioner, a home hospitalisation nurse (HAD), an industrialist, a network and a medico-social establishment.
The session devoted to new diagnostic and monitoring tools highlighted several major technological innovations. The presentation of the Rare Disease Letter, as well as several diagnostic support systems such as Orphanet's RDK, AccelRare, and AIDY, demonstrated how new technologies can reduce diagnostic uncertainty. These tools, which often incorporate artificial intelligence technologies, significantly improve the speed and accuracy of rare disease diagnosis.
Posters and Stands at a Glance
The stands representing rare disease health networks, expertise platforms, associations, and institutional partners, as well as the rich poster session, offered a very concrete overview of the dynamics at work in the field. Together, they illustrated the diversity of projects in the field of rare diseases: therapeutic developments and diagnostic innovations, structuring and exploitation of health data, digital tools for monitoring and diagnostic support, therapeutic education programs, as well as humanities and social science studies on patients' experiences, the role of caregivers, and the economic impact of rare diseases. This wealth of initiatives showed how teams, networks, and platforms are transforming national priorities into operational actions that closely match the needs of those affected and their families.
The Importance of Industrial Partnership
The congress also highlighted the crucial role of industrial partners in developing innovative solutions for rare diseases. More than twenty pharmaceutical and biotechnology companies were in attendance.
Several plenary sessions for industry representatives were organized throughout the congress, allowing companies to present their commitments and innovations in rare diseases. These presentations highlighted the importance of public-private partnerships in accelerating the development of new treatments for rare diseases. Pharmaceutical and biotechnology companies are investing heavily in research and clinical trials to offer innovative therapeutic solutions to patients with rare diseases, and their collaboration with other stakeholders is essential to accelerate the process of researching and bringing effective treatments to market.
Conclusion and Outlook
The RARE 2025 Meetings demonstrated the vitality and dynamism of the French rare disease community. These two days of rich exchanges and experience sharing provided an opportunity to take stock of the considerable progress made in all areas related to rare diseases: early screening, accelerated diagnosis, therapeutic innovations, personalized medicine, and organizational and social solutions.
The congress confirmed that new technologies, whether genomics, gene therapy, artificial intelligence, or digital tools, are opening up unprecedented opportunities for patients with rare diseases. These innovations, combined with better organization of care through rare disease care pathways, expertise platforms, and European reference networks, point to a future where diagnostic uncertainty will be minimized and access to innovative treatments will be easier for everyone.
As highlighted in the program editorial: "Let us hope that these RARE 2025 Meetings will once again be a great laboratory of ideas and analysis to move towards a more equitable and efficient healthcare system, offering patients and their families prospects for treatment and sources of hope." This ambitious goal seems well on its way to being achieved, thanks to the mobilization of all stakeholders in the rare disease community and the support of public authorities through the PNMR4.
The RARE Meetings will continue to play their essential role as a platform for exchange and collaboration, fostering reflection and action across the entire rare disease ecosystem in France. The next edition, scheduled in two years' time, will undoubtedly provide an opportunity to measure the progress made in implementing the PNMR4 and to celebrate new victories against these diseases, which affect 3 million people in France.
