Tracy Dudding‐Byth

Establishing The Australian Undiagnosed Diseases Network (UDN-Aus); Australia’s first national rare disease diagnostic network

Abstract Background An estimated 1 in 12 individuals across the world have a rare disease. The Undiagnosed Diseases Network International (UDNI) recommend Undiagnosed Disease Programs (UDPs) as the best approach to facilitate diagnosis and support for those affected. The Australi...

AI-Guided Systems Neurogenomics in Neurodevelopmental Disorders

Despite substantial advances in genomic testing, many individuals with neurodevelopmental disorders remain without a molecular diagnosis, while others receive a genetic diagnosis that does not fully explain phenotypic variability, developmental trajectory or tissue-specific conse...