Gene expression analysis on in vitro neuronal models and post-mortem brain tissues to understand Autism Spectrum Disorder

Abstract

We propose to combine the complementary expertise of our labs in cellular reprogramming and exome sequencing (Sertié's group) and transcriptome sequencing co-expression network reconstruction (Voineagu lab) to investigate convergent pathophysiology of non-syndromic ASD and Rett syndrome. Dr. Sertie's group is studying the possible role of the complement system in the etiology of ASD, through the analysis of iPSC-derived neuronal cells from patients harbouring variants in genes related to this system. Dr. Voineagu's lab has been studying transcriptome changes in human brain tissue of Rett syndrome cases and identified an upregulation of genes involved in the complement pathway. Thus, through a series of exchange activities, we aim to share our different expertise's and data, which will enable a deeper investigation of the specific questions of each proponent, it will contribute for other ongoing projects in both labs, thereby helping to create basis for a long term partnership. (AU)