Genomics and rare diseases

Genomics and rare disease research

Our genetic and rare disease research helps us diagnose and deliver advanced treatments for genetic disorders.

Our research in genomics and rare diseases are leading a new frontier of diagnosing and treating serious illnesses and conditions for children. Through our clinical interfaces, we are able to offer better diagnosis, prognosis and novel treatment options as a result of this research. The Sydney Children's Hospitals Network is at the forefront of genetic medicine, manufacturing clinical-grade vectors on-site at our Westmead site at the gene and cell medicine facility.

Research teams

Dermatology, Vascular Anomalies and Rare Diseases

Gene Therapy Research Unit

Genomics and Genetic Medicine

Genomic Medicine, Kids Neuroscience Centre

Research initiatives

Newborn Gen Seq TRAIL study

Ocular Gene and Cell Therapies Australia program

RNA for Rare Diseases (RNA-4RD) project