Birgit Olsson Lecture 2013
Professor Thomas Bourgeron's lecture "From Synaptic Genes to Brain Connectivity in Autism Spectrum Disorder"
About Professor Thomas Burgeron
Thomas Bourgeron is Professor in Human Genetics at Paris Diderot University and director of the Neuroscience Department of the Institut Pasteur in Paris, as well as Visiting Professor at the Gillberg Neuropsychiatry Centre. In collaboration with professor Christopher Gillberg and professor Marion Leboyer in France, Thomas Bourgeronidentified the first synaptic pathway associated with autism spectrum disorders – the NLGN-NRXN-SHANK pathway.
Summary
"From Synaptic Genes to Brain Connectivity in Autism Spectrum Disorder"
The fascinating lecture provided a journey through the “genetic landscape” of ASD - a landscape consisting of 2 meters of DNA in each cell, about 22.000 genes and more than 3 billion base pairs. This landscape, in which genetic, epigenetic and surrounding factors interact, was elegantly portrayed. The auditorium was given a historical account of the importance of the enormous development of knowledge taking place within the autism spectrum disorder field, not least in the area of genetics. This knowledge has been of vital importance for assessment, support and interventions for children with these conditions. Thomas Bourgeron stressed that the genetic information regarding the causes of autism spectrum disorders can help us “identify the best surrounding for the individual”. In short Bourgeron also mentioned the difficult situation in France, where in spite of the great strides in knowledge, old perspectives attributing autism to psychological factors are still prevailing. Bourgeron further emphasised the importance of recognising how various developmental functioning problems co-exist and overlap; in the way described by the ESSENCE (Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations) concept. The first genetic cause of ASD that was identified consisted of mutations in individual genes; for example Fragile X and Rett syndrome. A currently expanding area within genetics deals with so called “copy number variants”, that is how small deletions or duplications of genetic material alter genes and their influence on the brain’s nerve cells and synapses. A genetic cause for autism can now, courtesy of research, be identified in about 25 % of children with these conditions. Using visual models the lecture also showcased interesting mouse models demonstrating how mutations in various genes had given rise to symptoms correlating with ASD with a deviating pattern in terms of social function, communication/vocalisation and behaviour. In the long term the genetic advances could be important for enabling more targeted treatment of individuals with ASD. The 2013 Birgit Olsson lecture has been published in the Nordic Journal of Psychiatry.