Functional characterisation of a novel gene linked to autism spectrum disorder

Research Opportunity
Honours, Master of Biomedical Science
Number of Honour Places Available
1
Number of Master Places Available
1
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
Doctor Kiymet Bozaoglu kiymet.bozaoglu@mcri.edu.au +61 3 9936 6563 Personal web page

Summary his project will focus on characterising the function of candidate genes identified from these families at a molecular level to understand how they contribute to ASD. Techniques will include differentiation of stem cells into brain cells (neuron and glial cells) and manipulating the cells using various drug treatments to determine ASD pathogenesis.

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. Whilst there have been many studies that have identified variants which are predicted to predispose to ASD, the challenge is to unravel which variants are truly contributing to the phenotype and the mechanisms by which they do so. Therefore a key requirement for understanding disease pathogenesis is the development of models that recapitulate the disease enabling key insights into basic underlying mechanisms. ASD has a heritability estimate of 50% which means and therefore family studies are important in understanding the mechanisms of ASD. To this effort, we collect and analyse samples from extended families that have autism. These families are multigenerational and consist of grandparents, parents, children, aunts, uncles and cousins. We perform high throughput genetic screens to identify candidate genes associated with the disorder.     This project will focus on characterising the function of candidate genes identified from these families at a molecular level to understand how they contribute to ASD. Techniques will include differentiation of stem cells into brain cells (neuron and glial cells) and manipulating the cells using various drug treatments to determine ASD pathogenesis. Specific techniques that will be used include stem cell tissue culture, real time PCR, western blot, immunofluorescence, enzyme activity assays.



Faculty Research Themes

Child Health

School Research Themes

Child Health in Medicine



Research Opportunities

Honours, Master of Biomedical Science
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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