A world-first clinical trial using a novel liquid biopsy has transformed the lives of children and young people with arteriovenous malformations (AVMs).

A new trial medication has effectively saved Xavier's life as someone with spinal muscular atrophy.

Researchers at Sydney Children’s Hospital, Randwick have found a new testing method supporting families living with Tuberous Sclerosis Complex.

Thanks to the work by the Kids Advanced Therapeutics program, we were the first site to dose participants in a worldwide SMA gene therapy clinical trial.

It would take 10 years before genomic testing would finally diagnose Edmond with an extremely rare neuropathy and support in providing a treatment with life-changing results.

A world-first study has shown a low carb, high fat diet could have a life-changing impact on cognitive function for children living with Kabuki syndrome.

The groundbreaking FIREFLY-1 trial tested the efficacy of oral drug, tovorafenib, in brain tumour patients with results showing a 50 per cent tumour shrinkage in two thirds of patients.

OCD BOUNCE, an Australian-first paediatric public health service, is helping to bridge the gap and advance treatment for young people living with obsessive-compulsive disorder.

The Rett syndrome clinic at Westmead, a world leader in its field, is looking towards gene therapy research to treat the condition – giving hope to families like Abigail's for a brighter future.

A SCHN study investigated the outcomes of using parental and staff feedback to develop and evaluate the service of the ‘Difficult to Vaccinate’ clinical pathway.