Diagnostics and Functional Genomics


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

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