Primary organisation: James Cook University (JCU)
Principal Investigator: Professor Andrew Mallet
Flagship requested: Renal genetic disorders (KidGen), Renal genetics (HIDDEN)
Co-applicants: Dr Alasdair Wood (Murdoch Children’s Research Institute), Dr Cas Simons (Centre for Population Genomics)
Approval date: June 2022
Applicant’s project summary:
This project will use advanced genomic sequencing, data analysis and functional genomic techniques to provide better diagnostic outcomes for patients with Genetic Kidney Disease (GKD). The project looks to provide patients with advanced genomic sequencing and re-analysis of genomic data. Novel variants will be functionally modelled, and study populations will be maintained in audit databases.