Frédéric Laumonnier PhD Human Genetics and Physiopathology

Course and current status

Current Position: CR1 Inserm, Inserm Unit 930 "Imaging and Brain", Tours, France

 

- Since April 2007     Permanent research position, UMR « Imaging and Brain » INSERM U930, Tours, France (Director : Pr Denis Guilloteau). Team "Neurogenetics and neurometabolomics"

Scientific topic : genetic and neuronal networks involved in cognitive dysfunction ; autism ; intellectual disability ; neurobiology

 

- 2005-2007      Research Associate, Team « Genes to Cognition », Wellcome Trust Sanger Institute, Hinxton, United Kingdom (Director : Pr Seth Grant)

Scientific topic : Functional analysis of the dynamics of postsynaptic proteins belonging to the PSD complex linked to the NMDA receptor ; Live cell imaging ; FRAP.

 

- 2001-2004       PhD student in Human Genetics and Physiopatholgy, INSERM U619, Tours, France (Supervisor : Dr Sylvain Briault).

Scientific topic : Identification of genes involved in autistic disorder and mental retardation ; glutamate synapse ; X-linked intellectual disability ; channelopathy

Fellowship from Fondation Orange and Fondation pour la Recherche Médicale 

Scientific summary

Genetic and molecular networks involved in autism and intellectual deficiency.

My research work carried out during my Ph.D (2001-2004) led to the characterization of the first mutations associated with intellectual disability and autism, involving the SOX3, NLGN4X, PHF8 and KCNMA1 genes, which encode proteins for synapse function and transcriptional processes. These findings suggested that autism and intellectual disability could share, at least partly, common genes and biological pathways (NMDA receptor complex) although these conditions have a very distinct definition.

Thereafter I moved in Seth Grant’s lab (team Genes to Cognition) at the Wellcome Trust Sanger Institute (Hinxton, UK) to study the dynamics of proteins of the postsynaptic density complex using Live cell imaging approaches (FRAP).

In 2007, I got a permanent research position at Inserm and joined the team of Prof. Christian Andrès (Inserm U930) where he is currently leading a group working on the identification and the functional analysis of genes involved in cognitive disorders.

I am currently involved in the european FP7 « GENCODYS » project (Genetic and epigenetic networks in cognitive dysfunction) (www.gencodys.eu). This  5-year project, started in May 2010, proposes a systems biology approach that integrates a series of disciplines, with a focus on mental retardation and autism, to reveal the common molecular and cellular mechanisms leading to cognitive impairment. The overall concept is to: (1) Identify novel genes involved in cognitive disorders (CD); (2) Elucidate associated molecular networks that are commonly disrupted in CD; and (3) Identify genetic modifiers and small compounds that are able to modulate the disease phenotype. 

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