Genetic and molecular mechanisms involved in neurodevelopmental disorders

Genetic and molecular mechanisms involved in neurodevelopmental disorders


Amelie PITON

Identification of genes and molecular mechanisms involved in NDDs

  • Identification of novel genes involved in X-linked and autosomal forms of NDDs
  • Development of genomic and functional tools to interpret variants of unknown significance
  • Studies of the molecular mechanisms involved in some frequent forms of monogenic NDD (eg: DYRK1A syndrome, AGO1-related NDD)

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).