Identifying the genetic causes of brain malformation in children

Summary Identifying the genetic causes of brain malformation in children

Project Details

The human cortex is the surface of the brain that enables advanced intellectual function. It forms through a series of overlapping steps involving neuronal proliferation, migration and differentiation. Abnormal formation of the cortex causes a group of disorders known as malformations of cortical development (MCD), which can result in epilepsy, intellectual disability and cerebral palsy. There is considerable evidence that gene mutations cause MCD, but to date few of the genes involved have been identified.

This project will utilise modern genomic technologies, including whole exome and genome sequencing, to identify the genetic basis of MCD. Close collaboration with neurosurgeons and neurologists at the Royal Children's Hospital enables unique access to tissue to investigate relevant disease mechanisms. Methodology will include single cell transcriptomics and proteomic analyses of resected brain tissue. Newly identified genes will be investigated in model systems, including pluripotent stem cells to determine underlying disease pathogenesis. The successful applicant will work closely with clinicians and bioinformaticians within a large multidisciplinary team.