Functional Genomics

Project Overview

This program utilised functional genomics to enhance children’s screening, diagnosis, and personalised clinical care. It introduced innovative treatments like gene and cell therapies for various conditions, such as inherited retinal diseases, mitochondrial disorders, telomere-related blood disorders, and cancers.

Furthermore, it strengthened stem cell capabilities in New South Wales, establishing a facility for stem cell production, organoid and cell-based disease modeling, and genetic modification. Additionally, it expanded genome editing capacity through the Vector and Genome Engineering Facility.

The program also supported the establishment of a unique laboratory in the southern hemisphere offering a precision medicine platform based on stem cell biology for children with cystic fibrosis. This platform predicted therapy responsiveness and assessed potential repurposing of existing treatments for patients with rare mutations.

Collaborations

Kids Research Institute (Australia)
City of Hope Center for Gene Technology (USA)
Sydney Children’s Hospitals Network (Australia)
University of Adelaide (Australia)
Children’s Medical Research Institute (Australia)
University of Lisbon (Portugal)
Children’s Cancer Institute (Australia)
University Medical Center Utrecht (Netherlands)
Australian Functional Genomics Network (https://www.functionalgenomics.org.au/)
Vertex Pharmaceutical
Royal Price Alfred Hospital (Australia)
Loxegen Pharmaceutical
University of Technology Sydney (Australia)
Biospecialist Ltd
University of Sydney (Australia)
CF Australia

Summary

Investing in stem cell biology, functional genomics, and vector and genome engineering has driven substantial progress in disease modeling, facilitating preclinical research for innovative treatments of cancers and rare genetic diseases.

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)
Professor Adam Jaffe
Head, School of Women’s and Children’s Health, University of New South Wales Sydney (Australia)
Dr Shafagh Waters
Lead Scientist, Australasian Centre for Personalised Cystic Fibrosis Medicine (ACPCFM), School of Women’s and Children’s Health, University of New South Wales Sydney (Australia)