The Foundation For Rare Diseases has a mission of general interest: to accelerate research on all rare diseases. It aims at contributing to the identification of the causes of each rare disease, the emergence of drug candidates and the improvement of life of patients.
The Foundation pursues an active scientific policy to support research on all rare diseases. With 4 to 6 calls for proposals per year, the main selection criteria is scientific excellence.
Thanks to agreements with cutting-edge technological platforms spread over the France, the Foundation ensures that researchers have access to the latest technological advances and essential skills to perform innovative research.
ADVISE AND SUPPORT RESEARCH TEAMS
Since its creation, the Foundation has been firmly rooted in regions through its team of regional managers who provide close support to medical doctors and regional research teams.
These managers are present inside regional university-hospital and thus offer a unique proximity with research teams, reference centers and health networks, as well as with structures for research valorization.
Regional managers also detect and accompany the development of proof of therapeutic principle. The Foundation works to bring academic laboratories together with pharmaceutical companies thus accelerating the development of rare diseases treatments.
Knowing the name and the cause of their disease is a critical step for patients. The cause of 50% of rare diseases remain unknown until now. With this objective, the Foundation support French research teams to:
• Identify genes responsible for rare diseases
• Elucidate molecular mechanisms
• Facilitate access to innovative resources and advanced technologies
Testimony : Dr Jocelyn Laporte, IGBMC, Illkirch
“The Foundation’s support has enabled us to identify several new genes, and then to confirm their involvement in the mechanisms of the diseases we are studying.”
The low number of patients for each rare disease and the geographical dispersion of them make the discovery of new drugs particularly complex. Today, 97% of rare diseases have no treatment. To meet these expectations, the Foundation For Rare Diseases works alongside research teams to detect, as early as possible, projects that have therapeutic potential for:
• Identify molecules with therapeutic potential
• Consolidate the pre-clinical stages of drug candidates, to facilitate their transfer to pharmaceutical companies
Testimony : Pr Maithé Tauber, Toulouse University Hospital
“The Foundation’s support allowed us to take several key steps in the treatment of Prader-Willi syndrome.”
The study of the consequences of a rare disease at the individual and social levels allows the Foundation to suggest life course improvements. Rare diseases are serious, disabling and handicapping pathologies that cause social isolation for patients and their families.
In 2012, the Foundation launched the first call for projects in Human and Social Sciences to support studies conducted jointly by medical doctors, researchers in human and social sciences and patient organizations. The crossed view of a multidisciplinary team is the key element of this call for proposals to:
• Provide concrete answers to specific problems linked with rare diseases
• Break social and professional isolation
• Create connexions between patients organizations, medical doctors and researchers in human and social sciences.
Testimony : Pr Marcela Gargiulo, Institute of Myology and Department of Genetics Pitié-Salpêtrière Hospital
“The Foundation For Rare Diseases has produced a real change in the field of human and social sciences by launching a call for projects on the topic. There was a major gap before because the calls for research projects were mainly concerned with biomedical research.”
