Congenital Titinopathy

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.

Congenital titinopathy is an early-onset muscle disorder caused by recessively inherited mutations in TTN. This gene encodes titin, the largest protein in nature. With the development of massively parallel sequencing technology, the routine diagnostic sequencing of this enormous gene has now become feasible, and has resulted in the diagnosis of numerous congenital titinopathy cases from all over the world. With the help an international ‘army’ of clinical and research collaborators, we have recently established a large cohort of congenital titinopathy patients. The goal of this project is to broaden our understanding of the clinical, muscle pathology and imaging features, and the biological basis of this emerging and important new early-onset muscle disorder. This project would suit a medical student, or a science student with an interest in human genetic diseases. The focus can be tailored to the specific interests of the student.



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