Dévina Legrand-Ung, a young PhD in the spotlight !
Dates
from April 21, 2018 to April 28, 2018
She is the recipient of 3 Research Awards!
Her research
Autism and intellectual disability (ID) define a spectrum of neurodevelopmental disorders with a significant genetic component and involving at least 1% of the general population. Following the identification of mutations in the PTCHD1 and GRID1 genes in subjects with autism and/or ID, we sought to study their respective neurodevelopmental role by translational approaches in cell and/or animal models. Our results show that PTCHD1 is a novel post-synaptic receptor whose inactivation in Ptchd1-/y mice induces behavioral disorders and dysfunction of glutamatergic synapses. In addition, PTCHD1 interacts with PSD95, SAP102 (glutamatergic postsynaptic proteome), and RAC1 (actin cytoskeleton and RhoGTPase pathway) proteins. The in-vitro functional study of a homozygous mutation (Arg161His) associated with ID revealed alterations in neuronal and synaptic morphology and underlines the essential role of this receptor in the formation of excitatory presynaptic terminations. These data provide new insights into the physiopathological mechanisms involved in autism and ID, highlighting the essential role of glutamatergic excitatory synapse receptors in cognition and communication.
Post-doctoral fellowship - Fondation pour la Recherche Médicale
Dr. Devina Legrand-Ung is a recipient of the postdoctoral fellowship of Fondation pour la Recherche Médicale. This grant will allow him to finance these future post-doctoral work within the research group of Prof. Silvia De Rubeis at Mount Sinai Institute, New York.