Investigating molecular mechanisms of disease

Characterise molecular and cellular changes driving improvements to disease outcomes after postnatal 17B-estradiol treatment in mice modeling intellectual disability and seizures. 

We have mouse models to investigate functional impact of the two most frequent expanded polyalanine tract mutations in the ARX gene. 

Our ongoing work aims 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. 

Our current grant seeks to characterise the drivers underpinning phenotypic improvements following postnatal treatment strategy. The key approaches will use animal models including seizure monitoring and behavioural analysis, RNASeq approaches to examine transcriptome wide changes and associated changes to interneuron populations in the developing brain.


Tagged in Honours projects - Molecular and biomedical science, Honours projects - Cheryl Shoubridge, Honours projects - Molecular and biomedical science: Genetics