CV Science

Barbara Bardoni PhD Genetics

Course and current status

PRESENT POSITION: (From January 2008)

DR2 INSERM - Group leader at the IPMC- CNRS UMR6097, Valbonne (France).

EDUCATION 

1986: Faculty of Science-University of Pavia (Italy) - Ph.D. in Biology (cum laude)

1986-88: School of Speciality in Genetics, University of Pavia (Italy)

2004: Direction of Research (Habilitation à Diriger les Recherches), University L. Pasteur-Strasburg (France)

EMPLOYMENT AND RESEARCH EXPERIENCE 

1987-90: Research fellow Faculty of Medicine, University of Pavia (Italy) in Pof. Giovanna Camerino’s laboratory.  

1991-96: Assistant Professor, Faculty of Medicine, University of Pavia (Italy).

1994: Visiting Scietist at LGME – Strasbourg in Dr. Paolo Sassone-Corsi Laboratory 

1997 –2001: Visiting scientist at IGBMC –Illkirch (France), in Prof. Jean Louis Mandel's laboratory.

2002-2004: Researcher (CR1) INSERM at IGBMC – Illkirch (France).

2005-2007: Group leader at CNRS UMR6543. Faculty of Medicine, Nice, FRANCE.

2007: Nomination Directeur de Recherche (Equivalent Professor)

2008 to present: Group leader at IPMC, CNRS UMR6097, Valbonne (France). Team: “Physiopathology of Mental Retardation”

Honours and Awards

Fellowships : «A. M. Rusconi » (1988-90) ; EMBO Short Term  (1994); Italian Telethon (1997); Marie Curie (1998-99).

Grant:

Individual PI : Since 2004 « Fondation Lejeune »; 2000/2001/2005 FRAXA Foundation ; ATIP (2004-07); ATIP Plus (2008-09); Équipe FRM (2010-13)

Coordinator of a consortium: NIH (2001-04); GIS-Maladies Rares (2004-07); ANR Neuroscience (2006-09); AFM (2008-10). France-Canada Exchange Project (2003-05); Project « G-Galileo » with Italy (2007); « FAST project » with Australia (2009-10)

PI or Co-PI of a corsortium : FRAXA Research Foundation (2009/2010); ECC (1995-97); HFSP(2001-04); ANR Blanc (2006-09); ANR E-Rare (2010-13).

Scientific summary

Intellectual disability (ID) is the most frequent cause of serious handicap in children and young adults and constitutes a major medical and social problem. It is estimated that moderate to severe ID affects 0.3-0.5% of the population and the prevalence increases to 1-2% when mild ID is included. The causes of ID are extremely heterogeneous, ranging from environmental to genetic and even combinations of the two.  Approximately 15% of about 1000 hereditary diseases associated with ID show a X-linked mode of inheritance (XLMR). The latest XLMR update lists up 92 genes responsible for syndromic and nonsyndromic forms of ID have been cloned (XIV Workshop on Fragile X and X-Linked Mental Retardation, Bahia, Brazil, September, 2009). Among all the cloned genes, two of them –FMR1 and FMR2- are respectively involved in two different diseases, Fragile X syndrome (FXS) and a non-syndromic ID associated to FRAXE on Xq28, respectively. The two forms of IDs are due to the silencing of FMR1 and FMR2, respectively, and to the absence of their encoded proteins: FMRP and FMR2P. FMRP is an RNA-binding protein involved in several steps of RNA metabolism and particularly in translational control. FMR2P is a transcriptional factor with an implication in alternative splicing regulation trough the interaction with RNA. During the last few years, we focused on the molecular bases of two mental retardation handicaps, by the characterization of their partners (proteins and RNAs). Currently, we are using different approaches to better define the function of FMRP and FMR2 at the molecular level to find pathways that are deregulated in the absence of these proteins in adult neurons or during development and that could provide clues to propose a treatment for one or both IDs.