Understanding the molecular mechanisms of autism using human NF1 stem cell derived neuronal networks

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
Doctor Kiymet Bozaoglu kiymet.bozaoglu@mcri.edu.au +61 3 9936 6563
Co-supervisor Email Number Webpage
Associate Professor Paul Lockhart paul.lockhart@mcri.edu.au Personal web page

Summary This project will use human preclinical models to characterise the neuronal deficits in individuals with NF1. The proposed study will be the first to use human stem cell-derived brain cell networks (comprising neurons and glia) to examine the effects of NF1 mutations on neuronal development, determine how well they connect together in networks and whether they are able to function efficiently.

Project Details

Autism (or autism spectrum disorder; ASD) is a neurodevelopmental disorder characterised by debilitating impairments in social communication and restricted interests and repetitive behaviours. In most cases, the cause of autism is unknown and because of this, there are no effective treatments for autism in the general population. However, in some cases, autism occurs because of a known genetic cause. This is the case in children with neurofibromatosis type 1 (NF1), an autosomal dominant disorder caused by a loss-of-function mutation in the NF1 gene. Research estimates that 25% of individuals with NF1 have autism and many more have autism-like features that are clinically impairing. Given that the cause of autism in NF1 is known, we are in the position to understand how the genetic mutation results in changes in the way the brain develops and functions, and causes autism.   This project will use human preclinical models to characterise the neuronal deficits in individuals with NF1. The proposed study will be the first to use human stem cell-derived brain cell networks (comprising neurons and glia) to examine the effects of NF1 mutations on neuronal development, determine how well they connect together in networks and whether they are able to function efficiently. Various drugs targeting specific pathways important in NF1 will also be used in the stem cell derived neuronal networks to determine whether they can reverse the biological abnormality in these cells. Some of the techniques that will be used include stem cell culturing, differentiation of stem cells into brain cells, confocal microscopy, network activity assays, drug screening techniques, real time PCR and western blot analysis.



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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