1991: Bachelor of sciences (immunology and molecular biology), ESTBA, Paris. Training at INSERM U289 (Prof Y. Agid), Paris.
1993: Master of sciences (molecular genetics), Ecole Pratique des Hautes Etudes, Paris. Training at INSERM U289 (Prof Y. Agid), Paris.
1994: Master of sciences / DEA (neurosciences), PARIS-VI University (rank: 2/54). Training at INSERM U289 (Prof Y. Agid), Paris.
1998: PhD (Neurosciences), PARIS-VI University (highest grade). Training at INSERM U289 (Prof Y. Agid), Paris.
1999-2000: Post-doctoral fellow (Institut Génétique Biologie Moléculaire Cellulaire, Prof JL Mandel and Hopital Civil de Strasbourg, Prof J Sahel).
2001-2006: Research associate (Chargé de recherche de classe 1) at INSERM U679 (Dr E. Hirsch).
2004: Habilitation to conduct research (HDR, PARIS-VI University).
Since 2004: Consultant (Interface) at the Fédérarion de Génétique of the Pitie-Salpetriere Hospital.
Since 2006: Research Professor (Directeur de recherche de classe 2) at INSERM U679 (Dr E. Hirsch) and Institut du Cerveau et de la Moelle Epiniere (INSERM / Uni. Paris 6 U1127, CNRS 7225), Paris (Team of Prof A. Brice).
Since 2010: Professor at the Ecole Pratique des Hautes Etudes (EPHE) university, Paris. Director of the Neurogenetics EPHE team (https://epheneurogeneticsteam.wordpress.com/)
Since 2010: Head teacher of a Bachelor of Science in Biomedical research at the Institute of Technology Ecole Supérieure de Techniques de Biologie Appliquée (ESTBA)
Since 2012: Scientific coordinator of the Sequencing and Genotyping facility of the Institut du Cerveau et de la Moelle épinière.
Since 2012: Member of the Scientific Council of the SVT section of the Ecole Pratique des Hautes Etudes (EPHE) university
Since 2014: Member of the Team Council of the Institut du Cerveau et de la Moelle épinière
Since 2015: Member of the Administration Council of the Institute of Technology Ecole Supérieure de Techniques de Biologie Appliquée (ESTBA)
2009-2014: Member of the ICM Laboratory Council
2012-2014: Collaborator of the Dean of the SVT section of the Ecole Pratique des Hautes Etudes (EPHE) university
Hereditary movement disorders constitute a heterogeneous group of complex diseases affecting various structures of the central nervous system. In the group of Neurogenetics, supervised by Prof. Alexis Brice, I manage a team (Neurogenetics EPHE team) that focuses its studies on spinocerebellar degenerations, which include cerebellar ataxias and spastic paraplegias. Our projects cover both the genetic and physiopathological aspects of these diseases. Our objectives include the mapping of new genes responsible for spinocerebellar degenerations followed by gene identification and establishment of phenotype-genotype correlations. To this end, we benefit from an international network on these diseases: SPATAX. The knowledge gained from these genetic approaches is immediately applicable to patients in terms of improved diagnosis and follow-up and appropriate genetic counseling thanks to our connection with the department of Genetics of the Hospital. We have identified 11 causative genes in the team in the last few years (SPG11, SPG15, SPG26, SPG28, SPG49, SPG46, SPG30, SPG72, SCA22, SAX2, TORAIP1), participated in the identification of others (SCA38, SCA21...) and found unusual inheritance modes in known genes (ADLH18A1/SPG9, GRID2...). For reviews, see Coutelier et al, J Neurol 2015 and Tesson et al, Hum Genet 2015.
Our second objective consists in understanding the mechanisms implicated in neurodegeneration, that should able us to develop and design rational therapies to treat these diseases. This is investigated in 3 prototypes of these diseases;
a) SCA7, autosomal dominant cerebellar ataxia sharing several common genetic, clinical and physiopathological features with other neurodegenerative diseases caused by polyglutamine expansions,
b) SPG11, SPG15 and SPG48, 3 recently identified genes in the lab repsonsible for complex spastic paraplegias. Biochemistry, expression studies as well as cellular and animal models (KO mouse) are used.
c) SPG28, SPG49/56, SPG46, 3 genes encoding enzymes of the lipid metabolism. Lipidomic aspects on biological fluids and cells from mutated patietns are under investigations to identify therapeutic targets.