Functional Genomics: Centralised capacity to develop functional genomics for paediatric precision medicine

We used functional genomics – the study of how the ‘omics’ work together to influence disease – to improve children’s screening and diagnosis and personalise clinical management.

As a result of our work, we introduced novel treatment paradigms, including gene and cell therapies, for genetic diseases (blinding eye diseases, inborn errors of metabolism, muscular diseases and telomere-related blood disorders and cancers).

We boosted NSW’s stem cell capabilities to include stem cell production, organoid and cell-based disease modelling and genetic modification, and we enhanced NSW’s genome editing capacity by establishing the Vector and Genome Engineering Facility.

Lead Investigators

• Professor Ian Alexander, Head, Gene Therapy Unit, Children’s Medical Research Institute (Australia)
• Professor Patrick Tam, Head, Embryology Unit, Children’s Medical Research Institute (Australia)

Research Team

• Dr Anai Gonzalez Cordero, Children’s Medical Research Institute (Australia)
• Professor Robyn Jamieson, Children’s Medical Research Institute (Australia)
• Professor Tracy Bryan, Children’s Medical Research Institute (Australia)
• Dr Leszek Lisowski, Children’s Medical Research Institute (Australia)

• Children’s Medical Research Institute (Australia)
• Kids Research, Sydney Children’s Hospitals Network (Australia)
• Children’s Cancer Institute (Australia)
• University of Sydney (Australia)
• University of Technology Sydney (Australia)
• University of Adelaide (Australia)
• City of Hope Center for Gene Technology (USA)
• University of Lisbon (Portugal)
• University Medical Center Utrecht (Netherlands)
• Australian Functional Genomics Network (https://www.functionalgenomics.org.au/)

Emmanuel 

Functional genomics capacity and capability (NSW Health)

Occular Gene and Cell Therapies NSW Health