Enabling Platform – Functional Genomics

Project Overview

What it is

We now understand that genes are responsible for disease. But we don’t yet know how to translate this knowledge into treatments for children.

Functional genomics is the study of how genes and parts of the human genome contribute to different biological processes. It looks at how genes and other parts of the biological system work together to cause disease. This understanding can lead to:

improved diagnosis of childhood cancers, neurodevelopmental disorders and genetic diseases
better treatments such as new and novel therapies and medical technologies
better access to first-in-human clinical trials in for children in NSW
better genetic counselling.

What we do

The Functional Genomics enabling platform brings together all the current clinical and research activity across Luminesce Alliance, including teams working in cancer, rare genetic diseases and neurodevelopmental disorders.

The platform focuses on building our knowledge base of genetic variants that are of uncertain significance, inadequately understood, or novel. We model disease using stem cells and organoids (mini-organs grown in the laboratory using stem cells) and use new functional genomics methodology to understand genomic abnormalities in cancer. We can then test new therapies for a range of conditions including:

inherited retinal disorders and vision impairment
neurodevelopmental disorders
telomere disorders – haematological diseases and bone marrow failure
paediatric cancer.

Our platform

The following services will be conducted in the platform.

Disease modelling using stem cell products and stem cell-based tissue organoid of genetic diseases and neurodevelopmental disorders to gain actionable knowledge of disease-causing mechanism and potential therapeutic targets and treatment options.
Disease modelling using stem cell models for bone marrow failure and telomere biology diseases.
Preclinical modelling of gene therapy for genetic diseases and neurodevelopmental disorders.
New class of evidence of gene-dependencies from Cas13 targeting contributing to clinical recommendations for childhood cancers; and leading to drug discovery and clinical trials.
Proof-of-principle evaluation of the efficacy of stem cell therapy of blinding eye disease.
Preclinical modelling of molecular therapy for neuroinflammatory diseases.
Process development research on cGMP manufacturing of stem cell products for stem cell therapy.
Bioengineering of stem-cell derived tissue constructs for regenerative medicine.

Collaborations

Children’s Medical Research Institute
Sydney Children’s Hospitals Network
The University of Sydney
Peter MacCallum Cancer Centre
Children’s Cancer Institute
THerapeutic INnovations for Kids (THINK), Children’s Cancer Institute

Summary

The Functional Genomics enabling platform will build our knowledge across blinding eye diseases, neurodevelopmental disorders, cancers, haematological diseases and bone marrow failure,

Lead Investigators

Professor Patrick Tam
Deputy Director and Head of Embryology Research Unit, Children’s Medical Research Institute, The University of Sydney
Associate Professor Paul Ekert
Deputy Director - Research Themes, Children's Cancer Institute

Project Research Team

Dr Anai Gonzalez Cordero, Children’s Medical Research Institute. The University of Sydney

Associate Professor Leszek Lisowski, Children’s Medical Research Institute. The University of Sydney

Associate Professor Wendy Gold, Molecular Neurobiology Research Group , Sydney Children’s Hospitals Network. University of Sydney

Professor Ian Alexander, Head of the Gene Therapy Research Unit, a joint initiative of Children’s Medical Research Institute and Sydney Children’s Hospitals Network. University of Sydney

Professor Robyn Jamieson, Head of the Specialty of Genomic Medicine and based at the Children’s Hospital at Westmead. Sydney Children’s Hospitals Network. University of Sydney

Dr Mark Graham, Children’s Medical Research Institute. University of Sydney

Associate Professor Pengyi Yang, Computational Systems Biology Group Leader, Children’s Medical Research Institute. University of Sydney

Professor Tracy Bryan, Unit Head, Cell Biology Unit, Children’s Medical Research Institute. University of Sydney

Associate Professor Karen McKenzie, Children’s Medical Research Institute. University of Sydney

Dr Mohamed Fareh, Peter MacCallum Cancer Centre

Dr Antoine de Weck, Children’s Cancer Institute

Professor Ian Street, Director, THerapeutic INnovations for Kids (THINK), Children’s Cancer Institute

Functional Genomics Facilities

Stem Cell a nd Organoid Facility

Advanced Microscopy and the ACRF Telomere Analysis Centre (ATAC)

Single Cell Analytics Facility

Vectorology and Genome Engineering

Rare Disease Functional Genomics Laboratory

Functional Genomics Data Analytics