Research underpins everything we do at Rare Diseases NSW. Research-enabled care enables access to precision medicines and emerging therapies. Health research ensures the best possible models of care.
This page lists some of the many rare disease research projects that our clinicians and researchers are involved with across the precinct and our affiliated institutes.
The Zero Childhood Cancer Program (ZERO) is a world-leading precision medicine program for children with cancer, including rare cancers.
Led by Children’s Cancer Institute and Kids Cancer Centre at Sydney Children’s Hospital, Randwick, ZERO brings together leading clinicians and researchers around Australia and internationally, embracing research-driven clinical care to help achieve better outcomes for children with cancer, now and into the future.
Professor Michelle Farrar leads a multidisciplinary research program focusing on rare neurological diseases The team is involved in clinical trials for potential drug treatments with the goal of developing more effective and cost-efficient therapies for rare genetic neurological disorders.
Prof Farrar is a clinical leader in gene and molecular therapies, having led international clinical trials and statewide newborn screening pilots.
Led by Professor Adam Jaffe and Dr Shafagh Waters, the Molecular and Integrative Cystic Fibrosis (miCF) Research Centre at Sydney Children’s Hospital Network aims to improve life expectancy and quality of life for CF patients through targeted therapies.
A key innovation, the Australian CF Avatar Platform, uses tissue from CF patients to create 3D organ models (organoids) for drug testing to help predict how individual patients will respond to medications.
P-OMICS-flow is a research initiative focused on integrating precision medicine into routine cancer care across Australia. The project aims to establish a specialised oncology clinic that combines preventive measures for families with high-risk inherited cancer and treatment options for advanced cancers. The initiative seeks to drive evidence-based implementation, compare outcomes across hospital settings, and develop a scalable model for local and national rollouts.
The CoGENeS Collaboration on Genetic Epilepsy and Neurogenetics group aims to provide the best possible care to children with neurogenetic conditions.
CoGENeS includes researchers and multidisciplinary health professionals from Sydney Children’s Hospital Network and the Discipline of Paediatrics and Child Health, UNSW Sydney.
The inclusive GeneEQUAL program is a collaboration between the Disability Innovation Institute, UNSW Medicine and Health, and UNSW Art, Design and Architecture.
The project aims to develop a world-leading, inclusive, and person-centred model of genetic health care for people with intellectual disability and to co-produce resources and education for healthcare professionals.