Born March 30th 1969 in Marseille, French nationality,
Married, 3 children
Education and academic degrees
- PhD thesis in Human Genetics, Paris V University (1996)
- Accreditation to supervise research (2001), Paris V University
- 1992-1996: doctoral position at INSERM U383 directed by Pr C. Junien in the Pr C. Boileau‘s team
- 1997-1998: Post-doctoral position at INSERM U129 directed by Pr A. Kahn in the Dr H. Gigenkrantz’s team
- 01/1999-09/1999: Post-doctoral position at INSERM U383 directed by Pr C. Junien in the Pr C. Boileau‘s team
- 10/1999: Junior research associate position at INSERM U383 (Paris)
- 10/2002: Junior research associate position at UPR1142 (Montpellier)
- 10/2003: Senior research associate position at UPR1142 (Montpellier)
- since 01/2007: Senior research associate position at INSERM U827 (Montpellier)
Genetics of dystonia
Dystonia is a neurological movement disorder in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be inherited (primary forms) or caused by other factors such as birth-related or other physical trauma, infection, poisoning (e.g. lead poisoning) or reaction to drugs, particularly neuroleptics (secondary forms). Primary dystonia is suspected to be caused by a pathology of the central nervous system, likely originating in those parts of the brain concerned with motor function, such as the basal ganglia, and the GABA (gamma-aminobutyric acid) producing Purkinje neurons. The precise cause of primary dystonia is unknown. In many cases it may involve some genetic predisposition towards the disorder combined with environmental conditions.
Dystonia may affect various parts of the body and has multiple causes, making classification and diagnosis challenging. Dystonia can be classified by age of onset, cause, or by distribution of the body parts affected. There are currently at least 16 different genetic dystonia syndromes, although only a few genes have actually been isolated. The two identified genes for primary dystonia are TOR1A (DYT1 form on chromosome 9) and THAP1 (DYT6 form on chromosome 8). Dystonia are complex diseases with incomplete penetrance and large spectrum of clinical severity.
We have developed, since 2004, research projects on focal and generalized primary dystonia. Our aim is to participate in the identification of the molecular basis of these disorder by two approaches:
-The first one is a human genetics approach. In order to identify disease-causing and modifying genes, we have set up collaborations with numerous French and foreign teams to study large cohorts of patients.
- The second one is the set up of animal models in Caerorhabditis elegans in order to study the different genes involved in dystonia and to characterize their functional roles.