Dr Mark Corbett

My primary research aim is to map the genetic landscape of neurological disorders, with a view to understanding the basic biology of cognition and to provide an in-road for therapies for these devastating disorders.

My PhD training was centred on the analysis of a transgenic mouse model for the most commonly observed congenital myopathy (nemaline myopathy). This project showed me the value and power of an accurate model to facilitate understanding of the aetiology of human genetic disease from physiology down to the molecular level.

I have built my career in human genetics by implicating a host of new genes in intellectual disability, epilepsy and other neurodevelopmental disorders. These individually rare but collectively common disorders affect about 3% of the population and have a huge social, financial and welfare burden on those affected.

My research group uses massively parallel sequencing data to identify novel disease causing mutations and measure gene expression with bioinformatics analysis pipelines developed in-house. We use the accumulated genetic, gene expression, protein interaction and animal disease model data extracted from public databases to prioritise which genes are most likely to be the culprits in disease causation. The genes we have found to date tie the aetiology of neurodevelopmental disorders to fundamental cell biology processes such as gene expression, RNA metabolism, protein degradation and regulation of the cytoskeleton. Our work has contributed to the translation of these new technologies into clinical genetic testing.

On discovery of a mutation, we further test its disease causing capacity by designing and carrying out experiments using molecular and cell biology based assays. These assays use cell lines derived directly from patients where possible but we also make use of animal models when necessary and appropriate.