Establishing the causative nature of mutations that underlie human brain developmental disorder

Unlocking the causes behind developmental brain disorders

Abnormal brain development can lead to disorders including epilepsy, intellectual disability and autism.

Recent improvements in DNA sequencing have facilitated detection of causative mutations in some developmental brain disorders. However, the inability to model genetic mutations in human neural tissue represents a significant barrier to fully characterising the genetic components underpinning neurodevelopmental disorders.

This project will use CRISPR/Cas9 gene editing to study the functional impact of novel mutations in human pluripotent cells grown as cerebral organoids.

Possible approaches include:

  • A time-course study to characterise organoids at various stages of growth (morphology, organisation, molecular profiles)
  • Exploring new capabilities for the diagnosis of brain disorders, and personalised treatment options

This project is part of BioZone. BioZone brings a transdisciplinary approach to research in biomedical science and engineering to solve complex challenges, leading to improved patient care. Find out more about the BioZone vision here. Find out more about the PhD training program.

Research team leader: Associate Professor Julian Heng

I attained my bachelor's degree with first class honours at UWA, and then earned my doctorate from the University of Melbourne while working within the Howard Florey Institute (now the Florey Institute of Neuroscience and Mental Health). In 2004, I undertook postdoctoral training at the National Institute for Medical Research (Mill Hill, UK), holding a CJ Martin Fellowship as well as an MRC Career Development Fellowship to extend my period of training.

This project will be co-supervised by Associate Professor Kevin Pfleger (Head, Molecular Endocrinology and Pharmacology) and Dr Jennifer Rodger (School of Biological Sciences, UWA).

PhD opportunities

Interested in becoming part of this project? Complete the following steps to submit your expression of interest:

Step 1 - Check criteria

General UWA PhD entrance requirements can be found on the Future Students website.

Step 2 - Submit enquiry to research team leader

Step 3 - Lodge application

After you have discussed your project with the research team leader, you should be in a position to proceed to the next step of the UWA application process: Lodge an applicationDifferent application procedures apply to domestic and international students.


CRICOS Code: 00126G
Tuesday, 23 October 2018 1:51 AM (this date excludes nested assets)
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