Pathophysiology of Pediatric Genetic Diseases

​The research unit UMRS 933 INSERM/UPMC is devoted to the study of the pathophysiology of several human Mendelian disorders, including auto-inflammatory disorders and primary ciliary dyskinesia. We have access to cohorts of patients with these disorders, which are exceptional, both in their size and their phenotypic characterization. In spite of the identification, by our group, of several novel disease genes and a modifier gene, and functional studies concerning the corresponding proteins, the molecular and cellular bases of these disorders remain incompletely understood in the majority of these patients, justifying the search for new causative genes. Our research activities consist of a fundamental component and a translational aspect (coordination of 2 National Reference Centres for Rare Diseases —autoinflammatory syndromes and rare paediatric lung diseases — and participation in a third one on rare growth disorders; coordination of the national Rare Disease Cohorts (RaDiCo) program funded by the “Investissements d’Avenir”). For each pathology investigated, we develop on the top of the genetic profile (identification of new genetic factors involved the studied diseases) based on several complementary approaches, a functional profile with the design of disease-specific studies aimed at: 

1. ​developing disease-specific cell models, 
2. characterizing the molecular networks to which the proteins involved belong, 
3. evaluating, using different model systems, the consequences of the mutations identified in patients, 
4. and opening up new therapeutic avenues. The research conducted in our team leads to clinical implications with diagnostic, prognostic and therapeutic repercussions (translational research).