Human genetics and cognitive functions

Thomas Bourgeron, PhD
Our group gathers geneticists, neurobiologists and clinicians to explore the relationship between genetics and the susceptibility to psychiatric conditions. We are especially interested on autism spectrum disorders, and our previous studies have revealed the implication of a synaptogenetic pathway including the synaptic cell adhesion molecules NLGN3, NLGN4X, and NRXN1 and the scaffolding protein SHANK3 - all crucial for the maintenance of functional synapses. Our aim is to identify new susceptibility genes within this pathway and to characterize the biological factors that regulate it. We explore the genetic/epigenetic hallmarks of affected individuals using high-throughput genotyping and sequencing-based methods, in combination with clinical, neurobiological and neuroimaging data collected from patients or using cell and animal models.

Members of the Bourgeron Lab (April 2014)

Name Grade Topics Employment
Thomas Bourgeron Professor Genetics University Paris 7
Corinne Baran Administrative Assistant Institut Pasteur
Fréderique Amsellem Psychologist Psychiatry Robert Debré Hospital
Anita Beggiato Intern Psychiatry Robert Debré Hospital
Marion Benabou PhD Student Genetics Institut Pasteur
Anna Bonnet PhD Student Statistics University Paris 11
Jean-Pierre Bourgeois Directeur de Recherche Neurobiology CNRS
Julien Buratti Bioinformatician Genetics Institut Pasteur
Coralie Carton Master Student Genetics University Paris 7
Isabelle Cloëz-Tayarani Chargé de Recherche Neurobiology Institut Pasteur
Richard Delorme Professor Psychiatry Robert Debré Hospital
Marie Ducloy Intern Psychiatry Institut Pasteur
Elodie Ey Post-doc Behaviour Institut Pasteur
Allain-Thibeault Ferhat Master Student Behaviour Université Paris 11
Ophélie Foubet PhD Student Neuroanatomy University Paris 7, CRI
Hany Goubran-Botros Research Engineer, PhD Biochemistry Institut Pasteur
Laura Gouder PhD Student Neurobiology Université Paris 7
Audrey Guilmatre PostDoc Genetics Institut Pasteur
Guillaume Huguet PostDoc Genetics Institut Pasteur
Aline Lefebvre Intern Psychiatry CHU Caen
Nathalie Lemiere Technician Genetics Institut Pasteur
Anne-Marie Le Sourd Technician Neurobiology CNRS
Anna Maruani Dr. Psychiatry Robert Debré Hospital
Alexandre Mathieu Bioinformatician Genetics Institut Pasteur
Anne-Claude Tabet MD Genetics Robert Debré Hospital
Roberto Toro Chargé de Recherche Neuroanatomy Institut Pasteur
Alban Ziegler Intern Genetics Institut Pasteur

Former Members of GHFC

Name Grade Topics Employment
Pauline Chaste PhD, MD Psychiatry Robert Debré Hospital
Fabien Fauchereau Assistant Professor Genetics University Paris 7
Marina Konyukh PhD Student Genetics University Paris 7
Claire Leblond PhD Student Genetics Institut Pasteur
Oriane Mercati PhD Student Neurobiology Institut Pasteur
Cécile Pagan PhD Student Biochemistry University Paris 5
Nicolas Torquet Engineer Behavior CNRS


One position is available at the unit "Human Genetics and Cognitive Functions" directed by Pr. Thomas Bourgeron at the Institut Pasteur, Paris.
The applicant will study the genetics of autism spectrum disorders (ASD) using whole genome genotyping /sequencing approaches. The lab was pioneered in the identification of synaptic genes in ASD and aims now at understanding the synaptic profile of multiplex families with ASD using whole genome sequencing.

Role purpose :
Join the Genomic and Genetic Research Group, and participate to our gene candidate discovery process for Autistic traits and breeding by analyzing complex datasets in the context of biological pathways.
Your main mission will be to responsible for the interpretation of large scale array-based data (genomics), in relationship with quantitative genetic data and whole genomic sequencing. Identify and build biological networks and pathways that may help us in the understanding of such complex Autistic traits.

Primary responsibilities :

  • Analysis of genomic data, genes networks, pathway analysis
  • Data-mining and experience with managing high throughput 'omics data as well as public repositories such as NCBI, UCSC, AmiGO, etc

Qualifications :
  • Experience in Biology, computational biology, Bioinformatics, preferably with a focus in large scale data analysis.
  • Experience with modern high-throughput including genomic variation (SNP, CNV, etc).

Required skills :
  • Experience with genomic analysis (GWAS, etc) and gene interactions networks.
  • Experience with pathway databases and softwares, analysis and visualization tools.
  • Tools of bioinformatic (UNIX, etc)
  • Excellent interpersonal skills
  • Excellent verbal and written communication skills in French or/ and English.

Additional information :
Temporary contract (24 months); France Paris (75).
Starting date as soon as possible.

Collaborative projects

Selected Publications

  • Schmeisser MJ*, Ey E*, Wegener S*, Bockmann J, Stempel AV, Kuebler A, Janssen AL, Udvardi PT, Shiban E, Spilker C, Balschun D, Skryabin BV, Dieck ST, Smalla KH, Montag D, Leblond CS, Faure P, Torquet N, Le Sourd AM, Toro R, Grabrucker AM, Shoichet SA, Schmitz D, Kreutz MR, Bourgeron T, Gundelfinger ED, Boeckers TM (2012) Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2. Nature, 2012 Apr 29;486(7402):256-60 *equally contributed
  • Leblond C S, Heinrich J, Delorme R, Proepper C, Betancur C, Huguet G, Konyukh M, Chaste P, Ey E, Rastam M, Anckarsäter H, Nygren G, Gillberg I C, Melke J, Toro R, Regnault B, Fauchereau F, Mercati O, Lemière N, Skuse D, Poot M, Holt R, Monaco A P, Järvelä I, Kantojärvi K, Vanhala R, Curran S, Collier D A, Bolton P, Chiocchetti A, Klauck S M, Poustka F, Freitag C M, Waltes R, Kopp M, Duketis E, Bacchelli E, Minopoli F, Ruta L, Battaglia A, Mazzone L, Maestrini E, Sequeira A F, Oliveira B, Vicente A, Oliveira G, Pinto D, Scherer S W, Zelenika D, Delepine M, Lathrop M, Bonneau D, Guinchat V, Devillard F, Assouline B, Mouren M-C, Leboyer M, Gillberg C, Boeckers T M, Bourgeron T (2012) Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genetics 8(2): 1-17
  • Chabout J, Serreau P, Ey E, Bellier L, Aubin T, Bourgeron T, Granon S (2012) Adult male mice emit context-specific ultrasonic vocalizations that are modulated by prior isolation or group rearing environment PLoS ONE 7(1): e29401. doi:10.1371/journal.pone.0029401
  • Gong X., Delorme R., Fauchereau F., Durand C., Chaste P., Betancur C., Goubran-Botros H., Nygren G., Anckarsäter H., Rastam M. et al. An investigation of ribosomal protein L10 gene in autism spectrum disorders. BMC Med Genet 10 (2009) 7
  • Gong X., Bacchelli E., Blasi F., Toma C., Betancur C., Chaste P., Delorme R., Durand C., Fauchereau F., Botros H. G. et al Analysis of X chromosome inactivation in autism spectrum disorders. American Journal of Medical Genetics Part B Neuropsychiatric Genetics 147B, 6 (2008) 830-5
  • Melke J., Goubran-Botros H., Chaste P., Betancur C., Nygren G., Anckarsäter H., Rastam M., Ståhlberg O., Gillberg I. C., Delorme R. et al Abnormal melatonin synthesis in autism spectrum disorders. Molecular Psychiatry 13, 1 (2008) 90-8
  • Jordan B., Favre M., Barthélémy C., Biette S., Bourgeron T., Hérault M., Kamel D., Lemahieu M., Nieoullon A., Ramoz N. et al Génétique et Business: défendons la liberté de critique! (Genetics and business: in defence of free speech!) Médecine sciences : M/S 23, 5 (2007) 545-6
  • Durand C., Betancur C., Boeckers T., Bockmann J., Chaste P., Fauchereau F., Nygren G., Rastam M., Gillberg I. C., Anckarsäter H. et al Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 39, 1 (2007) 25-7
  • Delorme R., Durand C., Betancur C., Wagner M., Ruhrmann S., Grabe H.-J., Nygren G., Gillberg C., Leboyer M., Bourgeron T. et al No human tryptophan hydroxylase-2 gene R441H mutation in a large cohort of psychiatric patients and control subjects. Biological psychiatry 60, 2 (2006) 202-3
  • Etain B., Mathieu F., Rietschel M., Maier W., Albus M., Mckeon P., Roche S., Kealey C., Blackwood D., Muir W. et al Genome-wide scan for genes involved in bipolar affective disorder in 70 European families ascertained through a bipolar type I early-onset proband: supportive evidence for linkage at 3p14. Mol Psychiatry 11, 7 (2006) 685-94
  • Durand C., Kappeler C., Betancur C., Delorme R., Quach H., Goubran-Botros H., Melke J., Nygren G., Chabane N., Bellivier F. et al Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders. Am J Med Genet B Neuropsychiatr Genet 141, 1 (2006) 67-70
  • Delorme R., Betancur C., Wagner M., Krebs M.-O., Gorwood P., Pearl P., Nygren G., Durand C. M., Buhtz F., Pickering P. et al Support for the association between the rare functional variant I425V of the serotonin transporter gene and susceptibility to obsessive compulsive disorder. Mol Psychiatry 10, 12 (2005) 1059-61
  • Jamain S., Betancur C., Giros B., Leboyer M., Bourgeron T. Genetics of autism: from genome scans to candidate genes Médecine sciences : M/S 19, 11 (2003) 1081-90
  • Jamain S., Quach H., Betancur C., Råstam M., Colineaux C., Gillberg I. C., Söderström H., Giros B., Leboyer M., Gillberg C. et al Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 34, 1 (2003) 27-9
  • Jamain S., Betancur C., Quach H., Philippe A., Fellous M., Giros B., Gillberg C., Leboyer M., Bourgeron T. Linkage and association of the glutamate receptor 6 gene with autism. Molecular Psychiatry 7, 3 (2002) 302-10
  • Jamain S., Quach H., Quintana-Murci L., Betancur C., Philippe A., Gillberg C., Sponheim E., Skjeldal O., Fellous M., Leboyer M. et al Y chromosome haplogroups in autistic subjects Molecular Psychiatry 7, 2 (2002) 217-219


e-mail : thomasb@pasteur.fr
Phone : (33) 1 40 61 34 20
Fax : (33) 1 40 61 34 21

last update 11 april 2014
ura2182 | institut pasteur | paris, FR