Applying New Genomic Technologies To Understand The Genetic Basis Of Autism Spectrum Disorder

Research Opportunity
PhD
Department
Paediatrics
Location
Royal Children’s Hospital/Murdoch Childrens Research Institute
Primary Supervisor Email Number Webpage
Associate Professor Paul Lockhart paul.lockhart@mcri.edu.au +61383416322 Personal web page
Co-supervisor Email Number Webpage
Dr Kiymet Bozaoglu kiymet.bozaoglu@mcri.edu.au Personal web page

Project Details

Autism Spectrum Disorder (ASD) is a complex and highly heritable neurodevelopmental disorder defined by deficits in social communication and repetitive behaviours with restricted interests. Over 300,000 Australians have ASD and the annual national economic cost is ~$9.7 billion. ASD typically display complex inheritance but the genetic basis underpinning the disease remains largely unexplained. This project aims to understand the genetic basis of ASD by performing genetic studies in large families with 2 or more affected children. Novel genes will be characterised to understand pathogenic mechanisms underlying disease utilising advanced molecular and cell biology techniques. Subsequent studies will utilise newly developed and unique iPSC models to perform preclinical studies to characterise the disease process and identify potential therapeutic targets. This project is multidisciplinary and involves close collaborations with clinical researchers and bioinformaticians. The outcomes will enable understanding of the molecular basis of ASD and identify potential therapeutic targets for clinical management.



Faculty Research Themes

Child Health

School Research Themes

Child Health in Medicine



Research Opportunities

PhD
Students who are interested in joining this project will need to consider their elegibility as well as other requirements before contacting the supervisor of this research

Graduate Research application

Honours application

Key Contact

For further information about this research, please contact a supervisor.

Department

Paediatrics

Research Node

Royal Children’s Hospital/Murdoch Childrens Research Institute

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