Assistance Publique - Hôpitaux de Paris

Project Leader

Project Staff

Institute Presentation

Dr. Frémeaux-Bacchi's group is among the world leaders in the characterization of complement mutations in human disease. Its particular expertise is focused on human molecular genetics and in functional complement analysis. The group consists of three parts: (1) The Complement diagnostic laboratory at the European Hospital George Pompidou, which is the leading in France for diagnostics, genetics and functional studies in complement associated diseases ; (2) A research team in INSERM UMRS872, which is involved the molecular characterization (recombinant proteins expression and characterization, steady state and real time intermolecular interactions, structural bioinformatics) of the mutant proteins, discovered by the diagnostic lab as well as in endothelial cell model; and (3) Clinicians who provide all the expertise in the clinical management of patients.

The group created in 2002 the National aHUS laboratory which maintains the National aHUS Registry (bio-bank and database) and is among the five founder members of the “European Working Party on the Genetics of aHUS”. Currently a similar Registry and biobank is created for the GNC3 and other complement-related diseases (HELLP and typical HUS). The clinical and basic research activities resulted in more than 100 papers published within the last 10 years.