INSERM UMRS 970 (Paris Ouest)

Project Leader

Project Staff

Institute Presentation

The department of Genetics at HEGP and the related INSERM unit 970 -Team 3 are involved for >10 years in clinical and fundamental studies in monogenic forms of hypertension (familial aldosteronisms, Liddle syndrome, Gordon syndrome…) and in genes involved in salt-related disorders (Gitelman, Dent, distal renal acidosis). It is the referral national laboratory for renal tubulopathies due to mutations of renal transporters or receptors. The unit identified genes involved in Gordon syndrome, established genotype-phenotype relationships in several tubulopathies, and deciphered the underlying mechanisms of mutations in the WNK kinase pathway through engineered mice.

The French network on tubulopathies aims to improve knowledge of the diseases from clinical presentation to physio-pathology, promote basic and clinical investigations and improve clinical patient care. The success of that collaboration is attested by the constitution of cohorts of >1000 families bearing typical phenotype of one among 10 hereditary tubulopathies studied, with identified gene mutations in the majority. For genetic research in the remaining unidentified families, a DNA Biobank is available in parallel with fine phenotyping.

Xavier Jeunemaitre has large expertise in human genetics on arterial hypertension, salt-related and cariovascular diseases.  He is Principal investigator or participant in three on-going European Networks, two Transatlantic Networks funded by Fondation Leducq, three research clinical programs and three programs funded by French National Research Agency (ANR).

Rosa Vargas-Poussou is an expert in genetics of kidney diseases, especially tubulopathies. Anne Blanchard has large expertise in physiology and genetics of renal tubulopathies. Both are the co-founders of the French Network on Renal Tubulopathies and are responsible for several tubulopathy databases.

Maria-Christina Zennaro is an expert in human genetics of aldosterone-related diseases. She is Head of the French Network on Pseudo-Hyperaldosteronism type 1 and Principal investigator or participant to two research clinical programs and three programs funded by ANR.

Juliette Hadchouel is an expert in mouse genetics, transgenesis and physiological investigation of Na/K handling in mouse. She is participant in one on-going European and one Transatlantic Network funded by Fondation Leducq, as well as two programs funded by ANR.