PROJECT: JTC2010: EUHFAUTISM

European High-functioning Autism network: Translational research in a phenotypically well characterised sample

Abstract

Autism spectrum disorders (ASD) are neurobiological, highly heritable disorders characterised by qualitative impairment in social interaction and communication and by stereotyped and restricted behaviours. ASD affect up to 1 in 100 person. This proposal gathers clinicians, geneticists and neurobiologists to identify the genetic bases of high-functioning ASD (HF-ASD). First, we will develop a standardised assessment battery and database at each participating centre. The collection of exactly the same phenotypic data is crucial for genetic studies in homogeneous subtypes of ASD. Within the European High-functioning Autism network, extensive clinical data will be collected using a common electronic medical file (e-Asperger). Next, we will perform a high-resolution genomic profiling of patients with HF-ASD. For all patients included in this project, we will genotype more than 1 million SNPs and detect CNVs. Rare non-synonymous mutations will also be detected by sequencing candidate genes and performing whole exome sequencing. Finally, we will correlate the phenotypic and genetic data collected through this project. HF-ASD will be analysed as a quantitative trait and in patients carrying deleterious mutations, a thorough clinical investigation will be performed (MRI, EEG,?). This integrated approach should improve our knowledge on the mechanisms that increase the risk of HF ASD and more generally on the susceptibility to psychiatric disorders.

Keywords

Molecular, cellular and genetic approaches

Call topic

Mental Disorders

Proposed runtime

2011 - 2014

Project team

Thomas Bourgeron (Coordinator)
France (ANR)
Marion Leboyer
France (ANR)
Alexis Brice
France (ANR)
Christine M Freitag
Germany (BMBF)
Francisco G¢mez Scholl
Spain (MICINN)