Chief Investigators
Prof Jozef Gecz (CIA), Dr Clare van Eyk (University of Adelaide), Prof Michael Fahey (Monash University), Prof Iona Novak (University of Sydney), Dr Catherine Morgan (University of Sydney), Prof Roslyn Boyd (University of Queensland), Prof Russell Dale (University of Sydney), Dr James Rice (Women’s and Children’s Health Network), Dr Cathryn Poulton (King Edward Memorial Hospital), Dr Sarah McIntyre (University of Sydney), Miss Natasha Garrity (Cerebral Palsy Alliance), Assoc Prof Tracy Comans (University of Queensland), Prof Jane Valentine (UWA), Prof Nadia Badawi (University of Sydney), Dr Katherine Friend (Central Adelaide Local Health Network Incorporated).
Lead agency
University of Adelaide; (Child and Adolescent Health Service is the WA site lead).
Project description
Cerebral palsy is a diagnosis based on clinical signs and not aetiology or pathology, with only ~50% of children receiving a clinical diagnosis in the first year of life; limiting the opportunity for intervention where maximal neuronal plasticity may occur. This study aims to implement effective, national pathways for clinical recruitment, assessment and genomic testing of CP. The team will apply a combination of state-of-the-art genomic technologies and deep phenotyping to provide earlier and more accurate diagnosis for at least 50% of children with CP.
The research will offer genomic testing to more than 500 children with CP, which will assist with refining clinical criteria for genomic testing and adding to the evidence on genetic causes of CP.
Funding
MRFF Genomics Health Futures Mission (2022; AP2025102).