In France, the challenge of 7000 rare diseases represents a battle where the absence of economic models clashes with the imperative demand for medical solutions. While these conditions affect millions of people, only 5% benefit from appropriate treatments. In this context, the role of the Téléthon emerges as an essential pillar of research and development, transcending financial obstacles to offer hope for a better life to those who are often overlooked. This movement strives to invent new strategies so that scientific advances benefit all these so-called ultra-rare diseases, seeking to bridge the diagnostic odyssey and the lack of appropriate care. Despite colossal obstacles, the commitment and perseverance of the Téléthon are beacons of hope for millions of patients.
In France, 7000 rare diseases affect nearly 3 million people. Often without a viable economic model, these conditions represent a major medical challenge. The Téléthon, through the years, remains a cornerstone of research and development of innovative treatments. Although a majority of the 7000 rare diseases still lack treatment, the AFM-Téléthon perseveres in its commitment to reduce diagnostic odyssey and establish clinical innovations. Despite the apparent lack of commercial profitability, research evolves thanks to the mobilization of resources and expertise. The Téléthon, with its annual editions, stimulates crucial scientific advances, opening doors for new therapies at controlled prices.
Medical Challenge of Rare Diseases: Absence of Economic Model
The rare diseases, numbering 7000, represent a colossal medical challenge. Each disease has a prevalence of less than one in 2000, making it difficult to develop a viable economic model. However, despite their rarity, they affect around three million people in France, thus constituting one of the leading causes of pathologies in the country. The complexity of these diseases lies not only in their diversity but also in the absence of validated diagnostic tools and treatments, which leads to a diagnostic odyssey and a vital need for therapeutic solutions.
The Commitment of the Téléthon
Since its creation, the AFM-Téléthon has been actively committed to finding efficient treatments for rare diseases. This organization finances research projects and supports networks of clinical consultations across Europe, in collaboration with the Institute of Myology. This strategy aims to reduce diagnostic delays while improving patients’ quality of life. For the Téléthon 2024, participation lines are open, allowing everyone to act by supporting this wave of solidarity. Participating in Téléthon 2024 becomes an essential act of contribution.
Innovating to Overcome the Lack of Profitability
Beyond scientific research, the Généthon explores pathways to bring locally discovered therapies to market. However, the exorbitant cost of clinical trials – sometimes exceeding 100 million euros – and the absence of potential return on investment pose major issues. Frédéric Revah emphasizes the importance of collaborations with academic and industrial partners to successfully carry out these projects. Simultaneously, the idea of a public intervention fund to finance these innovations, which do not follow conventional commercial logic, is being considered. For more information on the initiatives, consult the article on the Téléthon’s fight against rare diseases.
