Our group gathers psychiatrists, neuroscientists and geneticists to understand the causes of autism spectrum disorders (ASD). We previously identified one synaptic pathway associated with ASD – the NLGN-NRXN-SHANK pathway. This pathway is known for playing a role in synapse formation and in the balance of excitation and inhibition within the brain. In parallel, we identified the first mutations within the melatonin pathway, which could contribute to the sleep problems observed in individuals with ASD. Our results highlight the genetic heterogeneity of ASD, but also point at common pathways that could constitute relevant targets for new treatments. We are currently performing a thorough genomic and clinical profiling of a large number of individuals (>500 families with ASD) using high-throughput genotyping/sequencing, biochemistry and brain imaging. In parallel, we are focusing on a set of mutations that we identified in genes related to the synapse (NLGN, SHANK, CNTN) by studying in depth their functional impact at the clinical and neuronal levels. Especially, we are exploring new ways of modulating the observed deficits by using human induced pluripotent stem cells (iPSC) and animal models. Our group is developing new methods for analyzing whole genome and brain imaging data as well as new paradigms for characterizing mouse social and vocal behaviors.
Group: Applied and theoretical neuroanatomy
Recrutement de volontaires sains afin d’identifier des gènes impliqués dans l’autisme
OBJECTIFS DE LA RECHERCHE : identifier les gènes impliqués dans l’autismeL’autisme constitue un handicap souvent profond qui se caractérise par un déficit sévère et prolongé des capacités d’interactions sociales et de la communication verbale […]
Background on the genetics of ASD
Autism spectrum disorders are a heterogeneous group of pervasive neurodevelopmental disorders affecting approximately 1% of the population. The diagnosis of ASD is based on impairments in reciprocal social communication and stereotyped behaviors. Behind the […]
Protected: Risk and Resilience in Neuropsychiatry
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The project SoNeTAA combines human-human and human-machine interactions with electroencephalography (EEG) recording to approach social cognition from a situated and reciprocal standpoint. The project especially focuses on Autism Spectrum Disorders and aims to bridge […]
Recent progress in sequencing and bioinformatics methods have given access to ancient DNA. This project aims at understanding the differential evolutionary pressure on the key proteins implicated in the nervous system, especially those related […]
Phelan McDermid Syndrome: from mechanisms to treatments
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder with non-specific clinical features. The main symptoms are hypotonia, intellectual disability (ID), absent or delayed speech together with minor dysmorphic features. More than half of the patients […]
Establishment of cohorts of patients with ASD
To tackle the genetic and phenotypic heterogeneity of ASD, our group is part of several national and international consortia that provide the specific expertise required to explore different facets of ASD. In France, our […]
Mouse models of ASD
In order to characterize the mechanisms leading to autism spectrum disorders, we are studying several mouse models. These models are mutated in a gene of interest that has been associated with ASD in genetic […]
The serotonin-NAS-melatonin pathway and susceptibility to ASD
Sleep difficulties are a major concern for families with ASD, but are often considered as an epiphenomenon, and therefore do not catch the attention of the medical and scientific community. In 2008, we reported […]
Brain imaging and genetics
Our group is exploring the human brain using Magnetic Resonance Imaging (MRI) and electroencephalogram (EEG). These approaches are combined with our genetic data in order to better understand the genetic and phenotypic diversity of […]
Inception – Institut Convergence for the study of Emergence of Pathology Through Individuals and Populations
Inception Goal The Inception’s goal is to develop a core structure to mobilize data resources, numerical sciences, and fundamental experimental biology in a range of health issues. Inception program uses Integrative Biology, Social Science […]
GRAVITY allows for rapid visualization and analysis of all the exonic variants stored in a database or in a VCF file by mapping them on an interaction network. It is designed as a plugin […]
Patients stratification with Graph-regularized Non-negative Matrix Factorization (GNMF) in Python.
BrainBox (http://brainbox.pasteur.fr) is a web application developed by the Groupe de Neuroanatomie appliquée et théorique de l’Unité de génétique humaine et fonctions cognitives. BrainBox lets you visualise and segment collaboratively any brain MRI dataset available […]
MicroDraw is a web application to visualise and annotate collaboratively high resolution histology data. Annotations are vectorial, and you can use boolean operations to combine, subtract and split regions. You can point MicroDraw to […]
The Brain Catalogue is a collaborative platform for comparative neuroanatomy. Our aim is to celebrate the diversity of the vertebrate brain by making high quality data, open and freely available to everyone.You can access […]
This web application allows the exchange of mouse vocalisation recording files.https://mousetube.pasteur.fr/You can be part of the community by clicking here.
2016Recording mouse ultrasonic vocalizations to evaluate social communication, J. Vis. Exp. 2016; 112, e53871.
2016CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders, Mol. Psychiatry 2016 May;.
2016An inter-species protein-protein interaction network across vast evolutionary distance, Mol. Syst. Biol. 2016;12(4):865.
2015Identification and validation of biomarkers for autism spectrum disorders, Nat Rev Drug Discov 2015 Dec;15(1):70-3.
2015Three-dimensional Quantification of Dendritic Spines from Pyramidal Neurons Derived from Human Induced Pluripotent Stem Cells, J Vis Exp 2015;(104).
2015A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability, Eur. J. Hum. Genet. 2015 Sep;.
201511q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures, Am. J. Med. Genet. A 2015 Dec;167(12):3019-30.
2015Genome-wide replication landscape of Candida glabrata, BMC Biol. 2015;13:69.
2015From the genetic architecture to synaptic plasticity in autism spectrum disorder, Nat. Rev. Neurosci. 2015 Aug;16(9):551-63.
2015Tackling the social cognition paradox through multi-scale approaches, Dumas G, Kelso JAS and Nadel J (2014) Tackling the social cognition paradox through multi-scale approaches. Front. Psychol. 5:882. doi: 10.3389/fpsyg.2014.00882.
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Christopher Gillberg is Professor of Child and Adolescent Psychiatry at the University of Gothenburg, Sweden, since the mid 1980s. He heads the Gillberg Neuropsychiatry Centre. He is also a Chief Physician at the Sahlgrenska University Hospital and one of the world’s most experienced, clinically active, child- and adolescent psychiatrists, with over 40 years of extensive clinical work in treatment of patients and families with complex psychiatric/neurodevelopmental problems.
Christopher Gillberg is affiliated to the “Human Genetics and Cognitive Functions” unit of the Institut Pasteur since 2015. We are working together for more than 15 years on understanding the genetic and environmental factors associated with autism.
To visit the Gillberg Neuropsychiatry Centre please go to http://gillbergcentre.gu.se/english
NEWS !! you can download the slides of Christopher Gillberg here: autism-plus-versus-autism-pure-institut-pasteur-sept-2016
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