Schizophrenia and related psychotic disorders are among the world’s most debilitating brain diseases.

While their prevalence is relatively low (4.6 per 1,000 point prevalence for schizophrenia), they are major contributors to the global burden of disease owing to their typical onset in early adulthood, and persistent symptoms over the course of illness. The average annual costs of treating people with psychosis in public specialised mental health services in Australia has been recently estimated at $79,537 per person, per annum. Tragically, suicide is the major cause of death for patients of schizophrenia, with the risk being the highest in males that never married and are unemployed.

My PhD project utilises the very latest in genomic sequencing technology to profile the genomic landscape of people that have schizophrenia (SZ). The methods and infrastructure that I have been developing for the last two years (honours year and first year of PhD) has just recently helped secure a $800,000 grant from NSW Health to generate Whole Genome Sequencing (WGS) data for 500 individuals. The aim of this project is to genetically characterise patients of SZ both into subgroups and at the individual level, providing the first of it’s kind personalised medicine approach to the diagnosis of SZ. This leading to the development of system level biomarkers that direct pharmacological and psychological treatments to the individual’s genetic profile.

This genomic project is in collaboration with A/prof Melissa Green from the University of NSW and Professor Vaughn Carr from St Vincent’s Hospital. An example of the power of this collaboration is demonstrated with a finding I discovered last year that a type of genomic variant known as copy number variants (CNVs) affecting gene expression at what is known as an imprinted locus, an area of the genome that has an epigenetic mark that allows genes to be expressed in a parent of origin manner which are extremely important in neurodevelopment. I could predict this variant from just the RNA-sequencing data or gene expression data, confirming this with both array and exome sequencing technology that the variant was present. Melissa Green’s group was then able to determine that carriers of this CNV had decrease in the cortical thickness in the prefrontal and parietal brain regions from their MRI scans. Using this WGS data, I will be able to get a higher resolution of the CNV and be able to determine break points. This is just one example of the significance my PhD project is providing.

From pilot data obtained, I have been able to present some findings at two international conferences. The Schizophrenia International Research Society Biennial meeting is by far the largest SZ conference at which I presented my work with sequencing technology, which had a lot of interest from other researchers from around the world and pharmaceuticals companies. This was held in Florence, Italy. I also presented some of my work at the Human Genome Meeting in Geneva, Switzerland. I have also been apart of many projects for other researcher and Consortiums. CNV data I generated was given to the Psychiatric Genomics Consortium for the largest CNV study in history in SZ, which should be published later this year in nature. I have also help out other HMRI researchers part with the bioinformatics of genomic analyses associated with their studies.


Mr Joshua Atkins, Associate Professor Murray Cairns, Dr Chantel Fitzsimmons

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