Graduate Research Degree Awarded - Wei Shern Lee

Congratulations to Wei Shern Lee - Graduate Research Degree Awarded 21 June 2021.

Degree: PhD
Supervisors: Paul Lockhart, Sarah Stephenson and Richard Leventer
Advisory Committee: Ed Stanley (Chair), Alex Combes

Thesis Title: Understanding the genetic basis and pathogenic mechanism of focal cortical dysplasia

Thesis Summary: Focal cortical dysplasia (FCD) can cause intractable epilepsy. The pathomechanism of FCD is incompletely understood. We combined genomics and single-cell transcriptomics to comprehensively analyse surgical brain tissues from FCD patients. We found that low allele frequency, brain-specific somatic variants in mTOR pathway genes can cause FCD. We identified a “two-hit” mechanism involved in FCD formation. Single-cell transcriptomics revealed cell types of interest that may explain the epileptogenicity of FCD. These findings contributed to our understanding of FCD and brain development.

Date awarded: 21 June 2021