Primary organisation: Murdoch Children's Research Institute (MCRI)
Principal Investigator: Professor Zornitza Stark
Flagship requested: Acute care, Brain malformations, Cardiovascular genetic disorders, Epileptic encephalopathy, Leukodystrophies
Co-applicant(s): Daniel MacArthur (Centre for Population Genomics MCRI/Garvan), Simon Sadedin (MCRI), Sebastian Lunke (Victorian Clinical Genetics Services), Leonhard Gruenschloss (Centre for Population Genomics MCRI/Garvan)
Approval date: October 2021
Applicant’s project summary:
This study will involve analysing genomic data from existing and previously consented rare disease cohorts with the aim of identifying novel disease-causing genes and genetic diagnoses, and developing new analysis and reanalysis methods.