1995 PhD in Human Molecular Genetics
1997 Assistant Research Professor (CR) - Inserm
2002 Research Professor (DR) - Inserm
Group leader - Laboratory of Human Neurogenetics, Inserm U910, 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 a group studying rare genetic diseases affecting the children’s brain. 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 (with the largest european patient cohort built and managed by our group).
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 of ASHG, ESHG, SFN, the Scientific Advisory Boards of the French Rett Syndrome Association, Fondation de France, Fondation Maladies Rares. I am also a member of the patient associations Think-tank (Gram) of INSERM.
I teach human and medical genetics and I am an author of more than 100 scientific publications.