Intellectual Disability Research Group
Our research seeks to further understand human brain function through the identification of genes and characterization of naturally occurring mutations implicated in various disorders of the brain.
Led by Associate Professor Cheryl Shoubridge, the Intellectual Disability Research Group focuses on identifying the molecular mechanisms and functional impact of mutations in genes causing X-linked intellectual disability (XLID).
- Utilises primary neuronal cell culture models to investigate the functional impact of patient mutations in genes involved in X-linked intellectual disability, in particular the ARX and IQSEC2 genes
- Utilises animal models to investigate functional impact of the two most frequent expanded polyalanine tract mutations in the ARX gene
- Seeks to establish the molecular mechanisms of disease associated with a range of expanded polyalanine tract mutations in ARX to begin to understand how these mutations underpin the intellectual disability with and without a broad spectrum of associated clinical symptoms in affected patients, including epilepsy
- Utilises transcriptome wide analysis of functional impact of frequent polyalanine tract mutations in ARX
- Investigates how phosphorylation may regulate the function of the ARX homeodomain transcription factor
- Screens ARX and IQSEC2 in various patient and control groups
- Investigate the pathogenic role of expanded polyalanine tract mutations in ARX (NHMRC Project grant, 2014-2015 / ARC Future Fellowship / WCH Foundation grant 2014
- Investigate the role of IQSEC2 in non-syndromic Intellectual disability (NHMRC Project grant, 2011-2013 / Channel 7 Research foundation 2014