Genetics and pathophysiology of neurodevelopmental Disorders
Team Leaders : Hervé MOINE , Amelie PITON
Department : Translational medecine and neurogenetics
SUBGROUP LEADER
We are performing genetic and genomic investigations aiming at identifying the genetic causes of NDDS (notably ID and ASD) and we explore molecular hypotheses that might shed lights on the pathophysiological mechanisms involved in these poorly understood disorders. Using different genomic approaches (targeted, exome and whole genome DNA sequencing, as well as RNA sequencing), we have identified several novel ID/ASD genes (ex DDX6, NOVA2, AGO1). We are also developing functional tools to better interpret variants (with respect to the major problem in medical genetics of solving the Variants of unknown significance). Using cellular models (human neuronal progenitors), we dissect pathophysiological mechanisms of some frequent monogenic forms of NDD, affecting proteins involved in the regulation of gene expression at the transcriptional or posttranscriptional level (ex: DYRK1A, AGO1).
Team Leaders : Hervé MOINE , Amelie PITON
Department : Translational medecine and neurogenetics