Professor, Group leader in NORT Institute, AIx Marseille University, France.
|My first education was in Physics. After 3 years, I moved to biochemistry and molecular biology. My PhD thesis was on molecular developmental biology and specially on body plan formation. My postdoc thematics was on molecular genetics of morphogenesis in invertebrates, and extended in vertebrates. This has been conducted in the group of V.Pirotta at EMBL (Heidelberg). Back to France, I moved to human genetics and my group was involved in Human Genome Mapping, especially on the proximal short arm of the X chromosome. We identify the gene involved in ATRX syndrome and demonstrate that it was also involved in Smith-Magenis syndrome. We also produce a map of the proximal short arm of chromose 17. Using a YAC of this region we create a mouse model of CMT1A and demonstrate that its phenotype could be corrected by high doses of ascorbic acid. This findings allow us, and colleagues, to set up the first clinical trials on this rare disorder. More recently, we create a mouse model of CMT1X, the second form of CMT in frequence. Using this model we demonstrate the CamKII is involved downstream and that CamKII inhibitors could revert the phenotype, opening the first track to cure this diorder actually without treatment.|
|My interest is in creation and exploration of mouse models of inherited disorders, and in drug development to cure these disorders.|