Scientific topics
Keywords
ITMO
Gisèle Bonne PhD, Genetics & Physiopathology of Neuromuscular Disorders
Course and current status
Gisèle Bonne, Born April 21, 1966, French.
PhD, Senior Researcher,
Directeur de Recherche at Institut National de la Santé et de la Recherche Médicale (DR1 Inserm).
Deputy Director and team leader “Genetics, Physiopathology and therapeutic approaches of muscle diseases” of the Center of Research in Myology (Inserm-UPMC UM974, CNRS UMR7215) directed by Gillian Butler-Browne, at the Myology Institute, Paris, France.
|
EDUCATION/TRAINING |
|||
|
INSTITUTION AND LOCATION |
DEGREE |
YEAR(s) |
FIELD OF STUDY |
|
University Paris Diderot - Paris VII |
PhD |
1994 |
Developmental Physiology |
|
University Pierre et Marie Curie - Paris VI |
HDR |
2002 |
Molecular Genetics |
Scientific summary
My research interest focuses on the analysis of skeletal and cardiac striated muscles in normal and pathologic conditions. After a Master in Biochemistry, I performed my PhD thesis (1990-1994) on the human cytochrome C oxidase complex during development and in mitochondrial myopathies. To complete my training in genetics, I went to Ketty Schwartz lab for my post-doctoral training where I identified the first mutation in the MYBPC3 gene encoding the cardiac myosin binding protein C, responsible to familial hypertrophic cardiomyopathy (1995). Since 1996, date at which I got a permanent position at Inserm as senior researcher, I conducted my research program of the genetics and pathophysiology of Emery-Dreifuss muscular dystrophy (EDMD) and indentified the first mutation of LMNA gene encoding Lamins A/C (1999). Mutations of this gene have been since linked to wide spectrum of disorders, the Laminopathies. My research program has evolved with time and results towards genetics and pathophysiology of Laminopathies and their related disorders and to reach now the genetics, the pathophysiology and the test of therapeutic approaches of several neuromuscular disorders, as I’m now leading a team of 20 persons working not only on EDMD, but also collagen VI related myopathies at the Center of Research in Myology, part of the Myology Institute (Paris, France). The field of laminopathies has grown over the years, and is now a quite competitive and simulating research area. We created 2 knock-in mouse models reproducing LMNA mutations identified in patients, models that mimics quite well some of the human disease features and thus represent unique tools to test therapeutic strategies. We also reported mutations in FHL1 gene in EDMD patients, widening thus the spectrum of FHL1-related disorders.
I'm currently the Chair of the French Society of Myology (SFM) and I'm part of the executive board of the World Muscle Society (WMS).
