Primary organisation: Murdoch Children's Research Institute (MCRI)
Principal Investigator: Professor John Christodoulou
Flagship requested: Acute care genomics (WES), Brain malformations, Cardiovascular genetic disorders, Epileptic encephalopathy, Genetic immunology, Leukodystrophies
Co-applicants: Professor Timo Lassman (Telethon Kid’s Insitute)
Approval date: June 2022
Applicant’s project summary:
Led by CPI Professor John Christodoulou, UDN-Aus will draw upon the research and clinical expertise at several institutions, and aims to equip clinicians, clinical scientists, and researchers, to deliver a sustainable, national pathway for individuals undiagnosed following clinical genomic sequencing. This includes a robust re-evaluation pipeline for participants of their stored existing genomic data, and flow through to frontier genomic technologies. De-identified external data sets, like those shared from Australian Genomics, will be used to test the study’s automated genomic reanalysis platform, and help the team understand the likely functional impact of individual genetic variants.