1995 PhD in Human Molecular Genetics
1997 Assistant Research Professor (CR) - Inserm
2002 Research Professor (DR) - Inserm
Currently - Group leader - Laboratory of Human Neurogenetics
Aix Marseille University, Inserm U1251, Marseille Medical Genetics Center, Marseille Medical School (Faculté de Médecine de La Timone).
In charge of the molecular diagnosis of epileptic encephalopathies, Department of Medical Genetics, La Timone Children's Hospital, Marseille.
After a PhD in human genetics where I studied the proximal region of the human X chromosome, I performed a post-doctoral research work on Down syndrome at Denver's Eleanor Roosevelt Institute (Colorado, USA). In 1997, I became assistant research professor (CR) at the french National Institutes of Health (Inserm) to study the genetics of intellectual disability and I made an extensive work on the X-linked alpha-thalassemia mental retardation (ATR-X) syndrome. Since year 2002, I am a research professor (DR) and leader of the Human Neurogenetics team in Marseille Medical Genetics Center (Inserm/AMU U1251). We use several approaches in the fields of clinical genetics, pediatric neurology, molecular genetics, neurophysiology, molecular biology, animal behavior analysis and therapeutic development. We are particularly interested by Rett syndrome and neonatal epileptic encephalopathies.
Our objectives are to : (i) increase the knowledge in the field of rare genetic diseases affecting the children's brain, (ii) improve diagnosis and prognosis for these diseases, (iii) develop new therapeutic strategies.
Several clinical trials have been/are conducted based on our work.
I am a member or former member of scientific evaluation committees @ Fondation Maladies Rares @ Fondation de France @ Association Française du Syndrome de Rett @Inserm @ Faculty Opinions.
I am accredited by the French Biomedicine Agency for diagnostic activities since 2011.
I teach human and medical genetics and I am an author of more than 170 scientific publications (H-index=39, >6000 citations).