Rare Diseases Research

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.

Rare neurological diseases

Associate Professor Michelle Farrar leads a multidisciplinary research program focusing on rare neurological diseases such as neuromuscular, neurodegenerative, and genetic conditions. Her team aims to improve patient care from diagnosis to treatment and beyond by integrating innovative methods and interdisciplinary genomics research. They are also involved in clinical trials for potential drug treatments and studies on biomarkers and genomics in newborn screening. The research seeks to develop more effective and cost-efficient therapies for rare genetic neurological disorders. A/Prof Farrar is a clinical leader in gene and molecular therapies, having led pivotal international clinical trials and statewide newborn screening pilots. Her work has the potential to transform health outcomes for Australians suffering from rare diseases.


P-OMICs-flow is an innovative research initiative focused on integrating precision medicine into routine cancer care across Australia. The project aims to establish a specialised oncology clinic that combines both preventive measures for high-risk inherited cancer families and treatment options for advanced cancers. By leveraging key Australian medical oncology and cancer genetics projects, the initiative seeks to drive evidence-based implementation, compare outcomes across hospital settings, and develop a scalable model for local and national rollouts.

Molecular and Integrative Cystic Fibrosis Research Centre

The Molecular and Integrative Cystic Fibrosis (miCF) Research Centre based at Sydney Children’s Hospital focuses on understanding the cellular and molecular processes that lead to Cystic Fibrosis (CF). The lab is equipped for a wide range of experiments, including cytogenetic, epigenetic, and molecular and cell biology research, and collaborates with the Drug Discovery Centre at the Children’s Cancer Institute of Australia. A key innovation is the Australian CF Avatar Platform, which uses tissue from CF patients to create 3D organ models (organoids) for drug testing. These organoids help predict how individual patients will respond to medications, enabling personalised treatment plans. Led by Professor Adam Jaffe and senior research associate Dr. Shafagh Waters, the centre aims to improve the life expectancy and quality of life for CF patients through targeted therapies. Their work represents a shift towards personalised medicine in treating CF, with the goal of making the CF Avatar Platform available to all CF patients in Australia.

ZERO Childhood Cancer Initiative

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.