À propos
After obtaining a Master's degree in Developmental Physiology and Functional Differentiation, I became particularly interested in hereditary kidney diseases and obtained my PhD in 2003 focusing on characterizing the mechanisms of pathogenesis in juvenile nephronophthisis (NPH). In 2006, after a postdoctoral fellowship studying pulmonary fibrosis at UCSF (San Francisco, USA), I joined Pr Antignac's laboratory as a postdoctoral fellow, where I acquired a strong expertise in various rare kidney diseases, with an emphasis on hereditary nephrotic syndrome (NS), a rare glomerular disease. I joined INSERM as a tenured researcher in 2012 and obtained my HDR in 2014.
ORCID ID
https://orcid.org/0000-0003-4685-5736
Projet scientifique
For the last 20 years, my research has focused on the identification and characterization of new genes and new pathophysiological mechanisms leading to hereditary NS, gaining expertise in podocyte biology and pathobiology, as well as in mouse models of hereditary NS. I actively participated in the identification of several genes mutated in NS, notably in the identification of the first gene involved in Galloway-Mowat syndrome (GAMOS), a rare neuro-renal disorder.
My research focuses on:
unravelling the role played by transfer RNAs (tRNAs) modifications (t6A, splicing) in human pathophysiological conditions using the Galloway-Mowat syndrome (GAMOS), a rare genetic disorder involving kidney and brain anomalies, as a paradigm of tRNA modification defects.
Establishment of novel in vivo models for hereditary NS and Alport syndrome to test new therapeutic approaches such as ASO, small molecules and gene therapy/AAV (in the frame of WIDGeT Consortium, BpiFrance).
To address these questions, our group combines patient- and gene edited- derived stem cell models (kidney organoids) and mouse models with multi-omic approaches.
2021Journal (source)Sci Rep