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.
Intellectual disability research
Our research seeks to understand human brain function through the identification of genes and characterisation of naturally occurring mutations implicated in various disorders of the brain.
Intellectual disability describes significantly impaired cognitive functioning coupled with a deficit in adaptive behaviour with onset before age of 18, with as many as 1 in every 50 people in the world affected. There is a high co-morbidity of seizures with intellectual disability.
Our research focuses on understanding the genetic causes of intellectual disability and seizures with an aim to provide a basis for rationale development of therapies.