Inflammasomopathies diagnosis
In a bench to bedside approach, we are exploiting our discoveries on the pyrin inflammasome to develop a fast functional test to diagnose Familial Mediterranean Fever (FMF). Pyroptosis, the fast inflammatory cell death associated with inflammasome activation can be monitored as a proxy of inflammasome activation and used to evidence inflammasome deregulation such as the one observed in FMF patients.
We demonstrate the validity of this approach in a recent paper" Read here: Fast diagnostic test for familial Mediterranean fever based on a kinase inhibitor
Another challenge in the field of rare diseases is to be able to predict the pathogenicity of a give gene variant. MEFV is the gene encoding pyrin, which is mutated in FMF patients. 385 different MEFV variants have been identified in patients (Infevers) and for most of them, it is unclear if the corresponding mutations are pathogenic (i.e. are causative of the disease) or benign polymorphisms. We are developping novel techniques to functionnally characterize gene variants in MEFV but also in several other genes involved in autoinflammatory diseases.
In parallel to these in cellulo approaches, we are developing in silico approaches in collaboration with the laboratory of Prof. Alessandra Carbone to predict on a large scale the pathogenicity of MEFV mutations.
All these translational approaches aim to develop personalized medicine in the context of the development of genome sequencing and to reduce diagnostic wandering, which remains a major problem in rare diseases.