The genetics of autism from risk to resilience. Thomas Bourgeron - 8/11/2019
Venerdì 8 Novembre 2019, ore 11:00
Thomas Bourgeron (Human Genetics and Cognitive Functions Institut Pasteur, Paris, France)
The genetic architecture of autism can be different from one individual to the other. It is framed by a complex combination of common and rare variants. The previous studies pointed at one biological pathway associated with autism related to the synapse. Among the causative genes, synaptic cell adhesion molecules (neuroligins and neurexins) and scaffolding proteins (SHANK) are crucial for synapse formation/maintenance as well as correct balance between inhibitory and excitatory synaptic currents. These findings significantly advanced our knowledge on the possible causes of autism. However, they also (unintentionally) contributed to the emergence of a simplistic conception of autism as a binary trait: mutated vs. non-mutated or affected vs. non-affected. This simplification neglects the large phenotypic heterogeneity of autism, whose genetic architecture like most complex traits cannot be reduced to a single gene. In this presentation, it will be discussed the recent results coming from human studies in large populations and genetic isolates as well as mouse studies that shed new light on the inheritance of autism and some of the underlying mechanisms. Finally, it will be illustrated how it has benn currently studied Resilience to understand why some carriers of deleterious mutations seem to be protected (The Resilients) while others are severely affected.