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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 (October 2009)
Former Members of GHFC
| Name |
Grade |
Topics |
Employment |
| Pauline Chaste |
PhD, MD |
Psychiatry |
Robert Debré Hospital |
| Marina Konyukh |
PhD Student |
Genetics |
University Paris 7 |
| Claire Leblond |
PhD Student |
Genetics |
Institut Pasteur |
| Anna Maruani |
MD |
Psychiatry |
Robert Debré Hospital |
Positions
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
Contact
e-mail : thomasb@pasteur.fr
Phone : (33) 1 40 61 34 20
Fax : (33) 1 40 61 34 21
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last update 20 june 2012
ura2182 | institut pasteur | paris, FR
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