Investigators: Professor Aleksandra Filipovska, Professor Oliver Rackham, Dr Giulia Rossetti
Project description
We will use CRISPR/Cas technologies to introduce specific mutations in genes that are implicated in mitochondrial disease to create models of these diseases. We will investigate the pathological consequences in models of mitochondrial diseases to identify molecular mechanisms that lead to disease that will enable us to identify targets for drug development. We use a range of cutting edge technologies to achieve our goals including: biochemical and molecular biology tools (northern and western blotting, proteomics, metabolomics), genetics (transcriptomics and ATAC-seq to study genome structure and function), functional genomics, protein structure and function relationships, synthetic biology and genome editing.
Funders of the project
- NHMRC Project grants