Utilising nasal biopsies as a surrogate for brain tissue to diagnose focal epilepsy

Research Opportunity
Honours
Number of Honour Places Available
1
Department
Medicine and Radiology
Location
Austin Health
Primary Supervisor Email Number Webpage
Associate Professor Michael Hildebrand michael.hildebrand@unimelb.edu.au (03) 90357143 Personal web page
Co-supervisor Email Number Webpage
Professor Samuel Berkovic s.berkovic@unimelb.edu.au (03)90357121 Personal web page
Professor Ingrid Scheffer i.scheffer@unimelb.edu.au (03)90357120

Summary Here we wish to push the boundaries and establish a technique to detect somatic genetic variation in brain by mildly invasive nasal biopsy.

Project Details

We have recently posited that, in addition to obvious inherited epilepsies, and those shown to be due to de novo mutagenesis in parental gametes, there may be a sizeable ‘hidden genetics’ component of epilepsy due to somatic mutation. This occurs post-zygotically, is largely confined to the brain and is difficult or impossible to detect by conventional sequence analysis of peripheral blood samples. This has been supported by discovery of somatic mutations restricted to certain brain malformations where brain tissue is available, and very recently by analysis of post-mortem tissue in autism. At present, the route to discovery of somatic mutations in brain is via the privileged situation of having brain tissue from surgical or autopsy specimens; this is not generally applicable to common epilepsies. Here we wish to push the boundaries and establish a technique to detect somatic genetic variation in brain by mildly invasive nasal biopsy. This project will explore the feasibility and yield of nasal biopsy to detect somatic mosaicism in DNA and RNA from both primary nasal epithelium and neuroectodermal patient cell lines established from the biopsies. These would then be applicable to epilepsies and other brain disorders to maximise gene discovery and, eventually, for translation of Precision Therapies to the clinic.



Faculty Research Themes

Neuroscience



Research Opportunities

Honours
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

Medicine and Radiology

Research Group / Unit / Centre

Translational Neurogenetics Laboratory

Research Node

Austin Health

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