Diagnostics and Functional Genomics

Vision

Define the impact of genetic findings and progress findings into accredited, accessible and relevant genetic diagnostics to drive clinical diagnostic and therapeutic outcomes.

Research Program Co-Leads

Professor Nathan Subramaniam

Professor Nathan Subramaniam is a co-Deputy Director of the Centre for Genomics and Personalised Health and co-leader of the Diagnostics and Functional Genomics research theme. Professor Subramaniam is an NHMRC Senior Research Fellow and Professor of Biomedical Sciences (Molecular Medicine) in the School of Biomedical Sciences, Faculty of Health at QUT. Nathan heads the Hepatogenomics Research Group at QUT where research focuses on identifying and characterising genes involved in the development of liver and iron-related disease. The aim is to advance the understanding of these disorders at a molecular level with the ultimate objective of development of diagnostics and therapeutic interventions. His group has been instrumental in defining the genetic basis of many iron-related disorders. View Professor Nathan Subramaniam’s profile

Functional Genomics Domain Leader - Associate Professor Larisa Haupt

Associate Professor Larisa Haupt is the Stem Cell and Neurogenesis Group Leader and Diagnostics and Functional Genomics Program Co-Leader within the Centre for Genomics and Personalised Health at QUT. A/Prof Haupt has extensive research expertise in the extracellular matrix, stem cells, cell and molecular biology and human molecular genetics. Her research team has a particular interest in the role of the extracellular matrix, with a focus on the proteoglycans, in the regulation and dysregulation of cell behaviour including lineage specification and cancer. A/Prof Haupt and her team utilise molecular and cell biological in two- and three-dimensional culture models as well as next generation sequencing platforms to unravel these complex mechanisms in humans. She and her team have identified a role for HSPGs in human neural stem cells (hNSC) proliferation and lineage specification and a potential role for these important proteins in breast cancer tumorgenicity. View Associate Professor Larisa Haupt’s profile

Program Summary

The Diagnostics and Functional Genomics Research Program undertakes research to identify the genes and genetic mutations that play a causal role in complex neurological and common chronic diseases such as stroke, migraine, neurodegenerative disorders including dementia, cardiovascular and liver disease. Program expertise in next generation sequencing (including whole exome and transcriptomic sequencing), relevant disease models (including 3D and organoids) along with functional genomics are used to identify genetic mutations in combination with methods to investigate the functional consequences of disease-causing mutations. Characterisation of implicated mutations provides a pathway for diagnostic and clinical utility, with elucidation of the molecules, pathways and mechanisms involved aiding the development of personalised treatment approaches.

The program seeks to characterize the molecular basis of genetic disease and understand affected pathways through:

• Developing and applying state-of the art functional genomic technologies including CRISPR to understand the biological basis of genetic variants associated with disease
• Diagnosing genetic disease to improve patient management and treatment prospects
• Improve complex disease stratification for better treatment strategies, refined diagnosis and prognosis, treatment cost effectiveness and improved quality of life
• Apply advancing genetic technologies to increase capacity for accurate diagnosis of existing disease and the development of effective and targeted treatment response therapies
• Leverage genomic findings to develop relevant functional models of disease and avenues for treatment and repair
• Deliver research training in diagnostics and functional genomics to the next generation of scientists, entrepreneurs, clinicians and health professionals
• Develop a pipeline for the integration of genomic variant identification and characterisation in Centre-driven projects