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.
They say knowledge is power, and a team of clinicians from our Network have set out to change the narrative around the treatment of FND and FS through the power of knowledge sharing.
A new RNA datatool aims to help patients with genetic diseases to receive a quicker diagnosis and improve their access to therapies.
New research has shown newborn bloodspot screening is more effective than conventional clinical diagnosis pathways for improving health outcomes in infants with SMA.
Experts are calling for research to look at how gene therapies can be adapted and scaled to become standard practices for people right around Australia.