Yann Herault is a neurobiologist studying the pathophysiology of neurodevelopmental disorders at the French National Centre for Scientific Research (CNRS). His main research interest is the identification of dosage-sensitive genes that control neurodevelopment and brain physiology. As such, he has worked on Down syndrome (DS or Trisomy 21) and other intellectual disabilities associated with copy number variation, such as 16p11.2 and 17q21.31 deletion/duplication syndromes. The objective is to identify candidate dosage-sensitive genes, to further understand pathophysiological mechanisms underlying these syndromes, and to propose new therapeutic approaches to improve outcomes in individuals with these conditions.
His lab has developed several mouse models of DS and monosomy 21. These models have been instrumental in identifying the contribution of several genomic regions to DS phenotypes affecting behavior and cognition, the cardiovascular system and craniofacial morphology. In addition, work in these models has led to the identification of two candidate genes that contribute to intellectual disability in DS as well as the development of novel pharmaceutical approaches to rescue DS learning and memory impairments.
Herault has also developed mouse and rat models of 16p11.2 deletion and duplication syndromes. He is interesting in studying candidate dosage-sensitive genes from the 16p11.2 region, as well as other autism risk genes (e.g., DYRK1A and PTCHD1).