Congenital Myopathy/Dystrophy 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 in-depth analysis of whole genome massively parallel sequencing data from children with early-onset muscle disorders who do not currently have a genetic diagnosis despite extensive investigation. Patient sequencing data will be analysed via a web-based analysis portal in parallel with sequencing data from both unaffected parents to increase the chance of identifying the causative mutation(s). If potentially pathogenic variants in possible new disease genes are identified, students will draw on existing literature, and database-accessible information to determine the biological plausibility of the gene as muscle disease gene (e.g. does the gene encode a protein involved in a pathway altered in other muscle diseases?).

The student will also analyse the pathogenicity of their variants of interest using in silico-based analytical techniques, and by finding additional patients with mutations within the same gene via our well-established collaborator network, and clinical ‘matchmaking’ programs. Depending on the interests of the student, and the discoveries made, the project may extend to cell-based functional and animal studies undertaken in collaboration with other teams.

BABS academic responsible for this project:

Currently Active: 
Yes