Genomics and Genetic Medicine

Genomics and Genetic Medicine

The Genomics and Genetic Medicine research groups are integrated into the Western Sydney Genetics Program based at both The Children’s Hospital at Westmead and the Sydney Children's Hospital, Randwick. In strong collaboration with many organisations including the Children’s Medical Research Institute, Sydney Health Partners and Luminesce Alliance, the program is leading research in genomics and precision medicine. 

We are made up of seven teams:


We aim to translate the recent genomics and precision medicine revolution into transformative paediatric medical care, including: 

  • Establishing an undiagnosed disease program for rare disease genomics and undiagnosed patients. 
  • Functional genomics and research for novel disease gene discovery, variant interpretation, informing accurate genomic diagnosis. 
  • Translational research to promote uptake of genomics and precision medicine into the healthcare system, with implementation science and education on mainstreaming for healthcare system readiness. 
  • Precision healthcare priorities including clinical trial/advanced therapeutics and gene therapies, and their implementation into the healthcare system. 


  • The NSW Newborn Screening Program and statewide biochemical genetics laboratory services has lead to better health outcomes for children and families. 
  • We have translated clinical and laboratory capabilities to clinical trials for metabolic diseases and other conditions including spinal muscular atrophy, Duchenne muscular dystrophy and early-onset retinal dystrophy. 
  • Our clinical genetic, metabolic disease and genomic research is creating new diagnosis and therapy opportunities for patients. 


Prof Robyn Jamieson

Prof Robyn Jamieson

Head of the Western Sydney Genetics Program at The Children’s Hospital at Westmead
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Last updated Tuesday 23rd April 2024