Functional Genomics Research Pipeline

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

The pipeline 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.

The following areas of research are conducted :

• 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.

Lead Investigator

• Professor Patrick Tam, Deputy Director and Head of Embryology Research Unit, Children’s Medical Research Institute, The University of Sydney

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

• 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

• Imaging Facility
• Biomedical Proteomics
• Bioinformatics
• BioResources
• CellBank
• Peptide Synthesis Facility
• Single Cell Analytics
• Stem Cell & Organoid Facility
• Vectorology Facility
• Genome Engineering Facility

There are also additional Core Facilities available within the Westmead Research Hub.

Paediatric precision medicine researchers and clinicians are invited to submit Expressions of Interest to access the Functional Genomics Enabling Platform’s new research capacity across stem cell medicine and vectorology. Read more

• Future inclusions as they are developed/prepared.
• Extract from the next Impact Report
• Graphics
• Publications

• Grace – Luminesce Alliance
• Luminesce Alliance 2024 Conference video (13.43 minutes):  Session 1.0: Family Members Interview – Mrs Emma Maly and A/Prof Wendy Gold, University of Sydney
• Interview with A/Prof Wendy Gold – Functional Genomics and Unpacking the complexity of rare diseases

Human mini-hearts: an innovative approach for heart disease research 

NSW Funding for new viral vector manufacturing facility – Luminesce Alliance

See Luminesce Alliance Publications – current research – Functional Genomics Enabling Platform