Présentation
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 group has gathered several clinical groups working on ASD led by Prof. Richard Delorme at the Robert Debré Hospital. In each center, psychiatrists and geneticists are collaborating to include well-characterized individuals with ASD and their relatives. In Europe, for the past 20 years, the Paris Autism Research International Sib-pair (PARIS) Study, a collaborative project initiated by Prof. M. Leboyer (Paris) and Prof. C. Gillberg (Göteborg), joined the efforts of clinicians in France and Sweden with the purpose of gathering a large population of individuals with ASD and their first degree relatives to perform genetic studies. More recently, the EU-AIMS project (European Autism Interventions – A Multicentre Study for Developing New Medications; http://www.eu-aims.eu) was launched and Thomas Bourgeron is the academic PI of the genetics work package of this project.
Additional efforts will be focused on the inclusion of large pedigrees with multiple affected subjects. To date, we have collected 808 families with ASD mostly from France and Sweden (616 trios, 118 families with two affected sibs, 18 families with three affected sibs and 4 multigenerational families). We have clinical data and DNA from most of theses individuals and their relatives.