I am Child Neurologist. I am conducting the rare disease program on Rett syndrome and brain malformation at Necker Enfants Malades University Hospital, APHP, Paris.
I am also conducting research works in the Imagine Institute - INSERM UMR-1163 in A Pierani team, on Genetics and Pathophysiology of brain malformations Paris Descartes University
2017 : Contrat d’interface INSERM in the team of Alessandra Pierani. Institut Imagine
2016: Full Professor (PUPH), Pediatric Neurology, Necker Enfants Malades university hospital, APHP
2011: Research Director Accreditation (“Habilitation à Diriger des Recherches”)
2005: Ph.D. degree, Paris VI University, in Ecole Doctorale Cerveau-Cognition-Comportement (ED 3C) Neuroscience
2000 – 2002: PhD student under the direction of Jamel Chelly. Inserm U106 and Institut Cochin - Paris, France.
2000: Gold medal at the residency competitive examination, 2000
1999: Certified by the Board of Paediatrics
1999: Medical Doctorate (Paris V University)
1996 Masters in "Neurosciences " (“Diplôme d’Etudes Approfondies”). (Department head: Prof. Pierre Gressens INSERM UMR_S1141 )
1994 - 1999: Residency in the Assistance Publique - Hôpitaux de Paris Teaching Hospital network
1994: Masters of Biological and Medical Science, in molecular biology and immunology (Paris V University)
I am part of the group "Genetics and Cerebral cortex development" (A Pierani) of the Imagine Institute (INSERMU1163 directed by Stanislas Lyonnet).
I am interested in understanding the cellular and molecular mechanisms of brain development, especially neurogenesis, and neuronal migration.
My main goal is to understand the molecular basis of Malformations of Cortical Development which are important causes of intellectual disability and account for 20-40% of drug-resistant childhood epilepsy. We conduct integrated multidisciplinary studies involving cellular and molecular biologists, foetal pathologists and radiologists. I use a wide range of approaches including genetics, biochemistry and cellular biology to better understand the signalling pathways involved in these processes and how their dysregulations can lead to pathologies. As a medical doctor and a researcher, I have established collaborations with clinicians and geneticists providing us with a transversal appreciation of our researches.
The main subjects of my project are:
[1] the identification of new genes and molecular actors involved in normal migration processes and being altered on MCDs;
[2] a better understanding of the link between genotype and phenotype, and of the process leading to an abnormal migration pattern;
Past and recent works:
- Role of DYNCH1 in the brain malformations and spinal muscular atrophy
- Stem cells and mechanisms contributing to human cortical malformations
- Development and differentiation of patient-derived iPSCs, correcting FOXG1 loss-of-function