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) - Laurea (summa cum laude)

1987-89: 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.  

1991-2001: Assistant Professor, Faculty of Medicine, University of Pavia (Italy).

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

 

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

2005-2007: Group leader ATIP 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

Award and Fellowship

1988: Price “Rino Minoprio” for the Excellence in Human Genetics; 1988-90: Fellowship ”AnnaVilla Rusconi”; 1994: EMBO Short-Term Fellowship; 1996-98: Italian Telethon Fellowship; 1998-99: FRM Fellowship; 2004: ATIP; 2007: ATIP PLUS; 2014: 6ème Prix du Conseil General06.

 GRANTS:

PI: NIMH/NICHD/FRAXA cofunding (2001-04), ATIP (2004-07); FRM New laboratory (2005) GIS Maladies Rares (2005-08); ANR-Neurosci (2006-09; 2013-17); ATIP Plus (2007-09); BQR (2009); MRT Thèse Flechée (2009-12); FRM TEAM (20010-13; 2014-17); FRAXA Foundation (2000; 2006); Jerôme Lejeune Foundation (2004/10; 2014/16; 2018-20); IngFRM (2014); FRC (2019-20)AFM (2014-16); Prematuration UCA-SATT (2019)

 Co-Investigator: EEC (1995-96); HFSP (2002-2005); ULP (2002); ANR Blanc (2006-09); Marie Curie-RI (2009-12); ANR E-RARE (2010-13); LabEX “Signalife (2012-19); Fondation Maladies Rares (2014-16); ANR-AAP (2016-120); FRAXA Foundation (2016-19).

 Exchanging grants: France-Canada cooperation grant. PI: E.W. Khandjian (2004); « Ambassade de Canada » Québec, avec Prof. E. Khandjian (2008): « G. Galilei » (Italy) avec Dr. M.V. Catania (2007-08); FAST (Australia) (2009-10) Prof. J. Gecz ; Ulysse (Ireland) (2019) Dr. D. Tropea ; MAUPERTUIS (Finland) (2019) Dr. M. Castren.

EDITORIAL ACTIVITY :

Board member: PLOS ONE; Frontiers in Molecular Neuroscience; Frontiers in Synaptic Neuroscience; Frontiers in Molecular Bioscience section RNA Proteins Network.

2013 Guest Editor : Neuroscience and Biobehavioural Reviews : « Common Mechanisms in Intellectual Disabilities: A Challenge for Translational Outlooks »

 

MISCELLANEOUS:

Referee «ad hoc» for the following journals: Cell Rep ; E.J. Hum. Genet.; E.J. Neurosci.; HMG; J. Mol. Biol., JMG; J. Neurosci.; Mol. Psychiatry ; Nature; MCB; Neuroscience; Neurobiol. Dis.; NAR;PLOS Genet ;  PLOS One; PNAS; Science, Trends Genet.

Referee «ad hoc» for AFM (Association Française contre les Myopathies); ANR (Agence Nationale de la Recherche); Horizon Program (Netherland Genomics Initiative); ); ISF (Israel Science Foundation); Italian Teletho ; Italian Ministry of Health;.NWO Division for Earth and Life Sciences (The Netherlands); Eurpean Science Foundation.

2008 Member of the evaluation committee for Life Science Master of University of Nice

2010 Member of a visiting committee of AERES 

Member of an evaluation committee for a researcher position (MCU) at the University of Nice

Chair of the Jacques Monod Conference «Mental Retardation: from genes to synapses, functions and dysfunctions ». Roscoff (France), October 7-11, 2010

2012-17 Member of Laboratory Council of IPMC

2013 Chair of «  G-Quadruplex Day », Nice, March 22

Member of the Scientific Board of the Meeting « XVI Workshop on Fragile X and other early-onset neurodevelopmental disorders », Adelaide (Australia), 17-20 September.

Co-Organizers of «RNA metabolism: Cancer, development and disease » Nice, December 4-6;

2014-2016 Member of the Selection committee of Signalife PhD Program

2015- to present: Member of Scientific Committee of « Fondation J. Lejeune »

2016-19 Member of Scientific Committee of LabEx « Signalife » 

2016 Member of Evaluation Committee ATIP –AVIESAN

2016-21 Member of Evaluation Committee CSS2-INSERM

2018 Organiser of “The multiple facets of RNA in development and in disease”, Nice February 7-8.

Member of Scientific Committee of SIFRARN Meeting, Nancy November 22.

Member HCERES visit Imagine Institute – Paris.

2019: Member of Scientific Board of the Meeting « XIX Workshop on Fragile X and other early-onset neurodevelopmental disorders », Sorrento (Italy), September 18-21.

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.   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.