The Genomics and Genetic Medicine research groups are integrated into the Western Sydney Genetics Program primarily based at The Children’s Hospital at Westmead. 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:

• Biochemical Genetics Service
• Department of Clinical Genetics
• Eye Genetics Research Unit
• Genetics Metabolic Disorders Service
• Genomics Implementation Research Unit
• Newborn Screening Service
• Sydney Genome Diagnostics (Molecular Genetics and Cytogenetics)

Objectives

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. 

Collaborators