Characterising novel genes which cause congenital kidney disease

Background: Our group is involved in an Australia-wide program (www.kidgen.org.au) which aims to identify novel causative genes in patients with kidney disease. Individuals with inherited kidney disease who do not have mutations in known genes will have their genomes sequenced to identify novel genetic causes for their conditions. Project Aim/s: We use CRISPR/Cas9 genome engineering approaches to model disease causing mutations in mice. Using these models, honours students will have a unique opportunity to establish how novel disease genes function in the kidney, how their protein products regulate cell biology and how their mutation leads to congenital renal malformations. Techniques: This project will utilise CRISPR/Cas9 approaches to introduce changes in mice which we will then study using histology, OPT imaging, immunostaining and RNA sequencing. Causative genes will be studied in vitro using tissue culture and various biochemical approaches will be employed to best understand gene and protein function.