Functional Genomics

The functional genomics project of PPM will expand on existing and create new capabilitites to diagnose genetic disease, interrogate disease mechanism and develop novel therapies for genetic disease.


The research activities will provide transformative capacity to deliver definitive diagnoses of genetic diseases and understand the disease-causing mechanism through disease modelling. These functional genomics facilities and knowledge will play a vital role in enabling researchers, focussed on the present clinical burden of genetic disease, to access and translate findings to state-of-the-art technologies such as gene and cell therapy and personalised medicine.


The initial treatment focus will be on metabolic liver disease, blinding eye disease, mitochondrial disorders, telomere and cancer disorders.

Ian Alexander.png

Head, Gene Therapy Research Unit, Sydney Children's Hospitals Network and Children's Medical Research Institute

Project lead
Prof Ian Alexander
Patrick Tam.png

Head, Embryology Research Unit, Children's Medical Research Institute

Project lead
Prof Patrick Tam

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