The Marseille institute for rare diseases (MarMaRa) brings together different research teams working in the field of rare diseases. The Institute develops a variety of initiatives in response to the challenges posed by the study of these diseases. There are between 7,000 and 8,000 rare diseases (fewer than 5 people affected out of 10,000), over 80% of which are genetic in origin. Recognised as a public health priority since 2004 by the French government (consult PNMR4), these diseases affect around 3 million people in France and 300,000 people in Provence-Alpes-Côte d'Azur, with 40% of patients being of Mediterranean origin. Despite recent successes in diagnosis, care and the development of treatments, 50% of patients still have no molecular diagnosis and less than 5% of patients benefit from treatment.
As an interdisciplinary institute, the MarMaRa was built around biological, clinical and societal resource facilities and interdisciplinary initiatives allying genetics with different branches of biology and involving cutting-edge genomics developments, the integration of biological data in systems, mathematical modelling, database creation, the repositioning of medicines, nanotechnologies, tissue engineering, imaging, physics, and the taking into account of ethical issues (see diagram 1).
The Institute’s main areas of research are:
- Development anomalies
- Rare muscular and peripheral nervous system diseases
- Genetic predisposition to common diseases and ageing
These fields concern three areas of research:
- Area 1: Exploration of uncharacterised rare diseases, identification of modifiers and actionable genes
- Area 2: Physiopathology and modelling of rare diseases
- Area 3: Proof of concept during the development of innovative treatments
