Using single-cell omics to determine disease mechanism and improve clinical management of children with epilepsy
- Research Opportunity
- PhD students
- Department / Centre
- Paediatrics
- Location
- Royal Children’s Hospital/Murdoch Childrens Research Institute
Primary Supervisor | Number | Webpage | |
---|---|---|---|
Dr Sarah Stephenson | sarah.stephenson@mcri.edu.au | Personal web page |
Co-supervisor | Number | Webpage | |
---|---|---|---|
Prof Paul Lockhart | paul.lockhart@mcri.edu.au | ||
Prof Richard Leventer | richard.leventer@mcri.edu.au |
Summary Using single-cell omics to determine disease mechanism and improve clinical management of children with epilepsy
Project Details
Epilepsy affects 1% of the world's population and is regarded by the World Health Organisation as the most serious brain disorder. Epilepsy typically presents in childhood, with over 50% of individuals having a focal seizure onset, and is associated with cognitive, intellectual, and behavioural disabilities and an increased risk of sudden death. In ~30% of children seizures cannot be fully controlled by medication. A major cause of drug-resistant focal epilepsy is a malformation of cortical development (MCD) which accounts for ~50% of childhood epilepsies that require surgery. The most common MCD causing epilepsy is focal cortical dysplasia (FCD), in which areas of the cerebral cortex show abnormal layering and dysmorphic neurons (DN) with or without balloon cells (BC). Surgery to remove the dysplastic tissue is often the only effective treatment to control seizures in these individuals, and our group is using this resected tissue to better understand the causes of FCD, with the aim of providing accurate diagnostic counselling and precision treatments. Single-cell omics provides an unprecedented opportunity to explore and understand the molecular mechanisms that define individual cells in complex tissues, such as the brain.
This project will use the single-cell RNA-sequencing and single-cell chromatin accessibility profiling on brain tissue resected during epilepsy surgery to identify the most critical participants of epileptogenesis at both the cellular and molecular levels.
Faculty Research Themes
School Research Themes
Research Opportunities
PhD students
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
Key Contact
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Department / Centre
Research Node
Royal Children’s Hospital/Murdoch Childrens Research InstituteMDHS Research library
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