Research Director (INSERM)
Institut National de la Santé et de la Recherche Médicale
Email - Giovanni
Giovanni Stevanin is a neuroscientist and molecular biologist specialized on hereditary movement disorders of the nervous system. In the group of Neurogenetics (INSERM, CNRS, UPMC, EPHE: http://epheneurogeneticsteam.wordpress.com/), supervised by Prof. Alexis Brice, he manages a team that focuses its studies on spinocerebellar degenerations, which include cerebellar ataxias and spastic paraplegias. The current projects cover both the genetic and physiopathological aspects of these diseases with the objectives to 1) identify new genes responsible for spinocerebellar degenerations using next generation sequencing in order to improve the nosology ot these disorders (the team has identified 10 causative genes in the field during the last 15 years) and 2) understand the mechanisms implicated in neurodegeneration to develop and design rational therapies to treat these diseases. This aspect 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, and b) SPG11 and SPG15, 2 genes identified in the lab responsible for complex spastic paraplegias. To these ends, we benefit from an international network on these diseases: SPATAX.
