Understanding the molecular mechanisms of intellectual disability

This research project explores the molecular mechanisms of intellectual disability

Mutations in IQSEC2 lead to substantial limitation in intellectual functioning and adaptive behaviour in children, including speech disturbances, autistic traits and seizures. 

To better investigate the role of this gene, we have generated a novel mouse modelling the complete knockout (KO) of IQSEC2; which presents with frequent and recurrent seizures. Hippocampal neurons extracted from IQSEC2-KO embryos grown in culture display a morphological phenotype when compared to their healthy wild-type (WT) counterparts. 

This project will use this resource to investigate the role IQSEC2 and synaptic morphology and plasticity on the orchestration of the complex architecture required for ‘normal’ cognition.

Supervisor

Tagged in Honours projects - Molecular & biomedical science, Honours projects - Cheryl Shoubridge