Genomic diagnosis and gene discovery in rare disease via analysis of existing samples and datasets

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.