Using Cerebral Organoids For The Study Of Tuberous Sclerosis Complex

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 Sarah Stephenson sarah.stephenson@mcri.edu.au +61399366563 Personal web page
Associate Professor Richard Leventer richard.leventer@mcri.edu.au +61393455661

Project Details

Tuberous sclerosis (TSC) is a multi-system disorder leading to benign tumours in several organs including the skin, kidney, heart, lung and brain. The most significant clinical sequelae of TSC are neurological, with epileptic seizures being the most common and severe, particularly when they occur in early childhood. The seizures are often resistant to treatment with drugs and arise in abnormal brain regions called tubers. If the seizures are not suppressed or otherwise managed, especially during early childhood, they are often associated with adverse developmental consequences including intellectual disability and autism.

The ability to model neurological disorders utilising cerebral organoids represents an invaluable tool for both delineating disease processes and investigating the fundamental mechanisms required for normal human brain development. Tubers are three-dimensional structures characterised by markedly disturbed cortical layering and morphologically abnormal cell types. Little is known about the molecular mechanisms leading to tuber development or the mechanism of seizure generation.

In this project the candidate will developing iPSC-derived cerebral organoid models to investigate the aetiology of tuber formation and resultant epilepsy. They will utilise molecular and cellular techniques including stem cell culturing, differentiation, immunostaining and advanced microscopy to analyse organoid models of TSC. There is considerable scope for collaborative interaction with clinicians and bioinformaticians involved in the program.



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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