Research interests
Within Kids Neuroscience Centre, Prof Cooper leads two interconnected research themes via the Genomic Medicine and Disease Mechanism and Therapies groups.

Over the last five years, Prof Cooper’s Genomic Medicine team have been working closely with KNC alumni A/Prof Daniel MacArthur (The Broad Institute of Harvard and MIT) and A/Prof Monkol Lek (Yale School of Medicine) to harness latest innovations in genomics to find genetic answers for Australasian families with inherited nerve, muscle or brain disorders. This research has provided a precise genetic diagnosis for 61 % (132/214) families with genetic neuromuscular conditions, who otherwise would not have an informative genetic explanation for their condition.

In order to achieve a diagnosis for our remaining undiagnosed families, we look to lessons learnt from the diagnosed cohort. We expected families pre-screened for common causes of neuromuscular disorders to be enriched for novel disease genes. However, novel disease genes account for only 5% of diagnosed families; we instead commonly identified ‘tricky’ variants in known disease genes that had been missed. Importantly, one third of our 132 diagnosed families (45/132) are now shown to bear (at least) one causal variant that disrupts mRNA splicing. Therefore, a current major focus of Prof Cooper’s research is the development of informatics and technical pipelines to detect, and confirm the splice-altering behaviour of, causative splicing variants in genetic disorders.

Prof Cooper also leads the Disease Mechanism and Therapies group. This research is closely linked to real-life families with neuromuscular disorders, using their genetic variants as a key to unlock core mechanistic pathways causing disease. The overarching goal of her mechanistic research program is to focus on core stress response pathways shared by common disorders (redox distress, membrane repair with injury, protein misfolding and aggregation) - with the vision to highlight clinical utility of therapies developed for common disorders, for our families with rare disorders.