Contact: thomas.bourgeron@pasteur.fr and ghfcgenetics@pasteur.fr
The candidate should have a PhD (Human Genetics or neuroscience) and the following skills :
– Strong interest in the field of neurobiology and psychiatry.
– Knowledge of the main bioinformatics software and methods (R and/or python language).
– Knowledge on genotyping and next generation sequencing data analysis (PLINK, GATK, …).
– Have a good level of written and oral English.
– Ease in a multidisciplinary environment, taste for teamwork, interpersonal skills.
– Scientific curiosity, methodological rigor.
Title of the project : Genetics of autism
The laboratory : Human Genetics and Cognitive Functions Unit (Dir. Thomas Bourgeron)
Duration of the contract : 2 years
The aim of the laboratory
Our laboratory is part of the Neuroscience Department of the Institut Pasteur and gathers psychiatrists, neuroscientists and geneticists to understand the causes of autism. We previously identified the first mutations in the NLGN-NRXNSHANK pathway, which has a key role in synapse formation within the brain. Our results highlight the genetic heterogeneity of autism, but also point at common biological mechanisms that could constitute relevant targets for new treatments. We are leading the genetic work package of AIMS2-TRIALS, the largest European project on autism research. The project is focused on deep-phenotyping of individuals with autism and controls including brain imaging (EEG and MRI) and a battery of cognitive tests. Our group is currently developing new methods for analyzing whole genome and brain imaging data as well as new paradigms for characterizing mouse social and vocal behaviors (https://research.pasteur.fr/en/team/human-genetics-and-cognitive-functions/).
The role of the Postdoctoral fellow
She/He will analyze the genetics of different groups of individuals with autism, neurodevelopmental disorders (NDD) and controls from the general population (UK Biobank, ..). He/she will help on the management of the files (QC) and on the analyses with a focus on the interplay between the common and the rare variants. A project on the non-coding part of the genome and a project more focused on the role of SHANK genes in autism/NDD will be proposed.
Example of papers of the laboratory
Leblond CS et al. Both rare and common genetic variants contribute to autism in the Faroe Islands. NPJ Genomics Medicine. 2019 Jan 21;4:1.
de Chaumont F et al.Live Mouse Tracker : real-time behavior analysis of group of mice. Nature Biomedical Engineering 2019 3(11):930-942.
Huguet G et al. Measuring and predicting the effect of copy number variants on general intelligence in communitybased samples. JAMA Psychiatry 2018 75(5):447-457.
Mercati O, et al. CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders. Molecular Psychiatry 2017 22(4):625-633.
Bourgeron T. From the genetic architecture to synaptic plasticity in autism spectrum disorders. Nature Reviews Neuroscience (2015) 16, 551–563