Predictive Gene Discovery

Dr Oates will be available to supervise Honours students in Semester 2 2018 (not Semester 1).

Our research is focused on the discovery of new human disease genes, establishing the biological pathways that are altered by mutations in these genes, and using this information to identify targets for future therapies. Our main research interest is the discovery of genes responsible for congenital muscular dystrophies (CMDs) and congenital myopathies (CMYOs), two groups of genetic muscle disorders that affect babies and young children. These disorders frequently result in significant weakness and physical disability, and can result in early death. Around half of all children with these disorders still do not have genetic diagnosis. In many cases this is because the causative gene(s) have not yet been identified. In addition, there are no current treatments to prevent, halt, or slow the progression of the vast majority of these disorders – even when the genetic basis is known.

This project will involve analysis of human genomic and RNA sequencing data, protein expression and interactome data and relevant animal model data to generate a list of genes that are likely ‘yet-to-be-discovered’ early-onset muscle disease genes. Once a shortlist is established, the student will have the opportunity of analysing genomic data from patients without a genetic diagnosis in order to identify potential disease-causing mutations in their candidate genes. 

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