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.
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.
Supervisor
- Associate Professor Cheryl Shoubridge
- Research area: Intellectual disability research
- Recommended honours enrolment: Honours in Molecular and Biomedical Science