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Dr Julian Heng

Curtin University/Perkins Institute for Medical Research


Presentation Title

Causative mutations in human brain developmental disorder - detection as a first step on the path to new remedies

Cell and Developmental Biology Session


The functions of the human brain rely on the precise production and assembly of neurons into specific circuits, and for neural circuits to wire and fire appropriately over the course of life. Disruptions to these key developmental steps can result in brain disorders such as microcephaly, autism spectrum disorder, psychosis and early onset neurodegeneration. In this presentation, I will discuss our recent findings on the genetic basis for brain disorders. We have integrated next generation sequencing data with functional assays to model genetic mutations in living brain cells so as to establish their causative actions which underlie defective brain growth (microcephaly), neural circuit formation (autism spectrum disorder, psychosis) and brain homeostasis (neurodegeneration).

Our research has led to the discovery of novel molecular mechanisms for brain development and homeostasis. Perhaps most importantly, our research ends the diagnostic journey for individuals who live with a brain disorder, and improves genetic counselling. The health-economic benefits supporting our ambition to develop effective, presymptomatic diagnostic testing for brain disorders stands alongside our long-term goal to define the genetic basis for brain development and disease in our community.


Julian attained his Bachelorís of Science from UWA (1993-1996) then undertook a PhD in developmental neuroscience at the University of Melbourne (1998-2002), working at the Howard Florey Institute. He next trained as a CJ Martin Fellow and then as an MRC Career Development Fellow at the National Institute for Medical Research (Mill Hill, UK) from 2004 to 2008. In 2010, Julian was appointed Group Leader at the Australian Regenerative Medicine Institute (Clayton, Australia) and received a Career Development Award (Level 1, NH&MRC). He then relocated his research to the Harry Perkins Institute of Medical Research (Perth, Western Australia) to establish the Brain Growth and Disease Laboratory. In March 2017, Julian was appointed group leader within Curtin Universityís Neuroscience Laboratories with the goal to apply functional genomics to support the accurate diagnosis and treatment of brain developmental disorders and early onset neurodegeneration.

Last Updated on Wednesday, 23 August 2017 08:41
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