Utilising nasal biopsies as a surrogate for brain tissue to diagnose focal epilepsy
- Research Opportunity
- Number of Honour Places Available
- Medicine and Radiology
- Austin Health
|Associate Professor Michael Hildebrandfirstname.lastname@example.org||(03) 90357143||Personal web page|
|Professor Samuel Berkovicemail@example.com||(03)90357121||Personal web page|
|Professor Ingrid Schefferfirstname.lastname@example.org||(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.
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.
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