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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

Latest news: Expressions of Interest invited from precision medicine research teams.

Expressions of Interest (EOI) are invited from paediatric precision medicine research teams seeking to use the subsidised services of the Luminesce Alliance Functional Genomics Enabling Platform.

The EOI is open to Luminesce Alliance partner organisations (Sydney Children’s Hospitals Network, Children’s Medical Research Institute, Children’s Cancer Institute, University of NSW, University of Sydney). For full criteria read more 

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

  • Patrick_Tam@2x

    Professor Patrick Tam

    Deputy Director and Head of Embryology Research Unit, Children’s Medical Research Institute, The University of Sydney
  • P19_Paul Ekert

    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 and 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

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Acknowledgment of Country.

In the spirit of reconciliation, the Luminesce Alliance acknowledges the Traditional Custodians of country throughout Australia and their connections to land, sea and community.

We pay our respect to their elders past and present and extend that respect to all Aboriginal and Torres Strait Islander peoples today.