Scientific topics
Keywords
ITMO
Gaëlle FRIOCOURT PhD in Human Genetics
Course and current status
Current position: CR1 Inserm, UMR 1078 (Director: Dr E. Génin), Brest, France
2006-2011: Post-doc, Inserm UMR 1078 (Director: Pr Claude Férec), Brest, France.
Topic: Functional study of ARX (Aristaless-related homeobox gene), a gene involved in intellectual deficiency and epilepsy.
2003-2006: Post-doc, laboratory of Pr John Parnavelas, Department of Cell and Developmental Biology, University College London, London, United Kingdom.
Topic: Study of the role of Doublecortin and Arx genes in neuronal migration.
1999-2003: PhD in Human Genetics, Paris 7 under the supervision of Dr F. Francis and Pr J. Chelly, Inserm U567, Institut Cochin, Paris.
Topic: Functional study of doublecortin and of its role in neuronal migration.
Scientific summary
Several genes have been involved in neuronal migration defects, such as lissencephaly. Whereas most genes responsible for these severe neurodevelopmental diseases are involved in the regulation of cytoskeleton stability and dynamics, the role of the aristaless-related homeobox transcription factor ARX in neuronal migration and differentiation is poorly understood. Using DNA-Chip technologies combined with cellular and animal models, we are currently investigating the molecular pathways controlled by this gene during brain development. We are also investigating the effect of ARX most frequent mutation on brain functioning.
In another project that we developped more recently, we are investigating the effect of CBS (cystathionine-beta synthase) overexpression (as in Down syndrome) and loss of function (as in homocystinuria) in brain functioning. We identified a few candidate drugs that interfere with the consequences of CBS overexpression and thus could be used in therapeutic to decreased the cognitive defects of patients with Down syndrome.
