About Dr Carol Dobson-Stone

The incredible cognitive capacity of the brain is a uniquely human characteristic, and the progressive loss of this capacity cruelly robs dementia sufferers of their humanity. There is currently no effective treatment for dementia. Our research aims to uncover the genes involved in the pathogenesis of different forms of dementia, as the first step on the pathway towards designing treatments for these disorders.

Carol Dobson-Stone is a molecular geneticist interested in genes that are mutated in dementia and related neurodegeneration, particularly frontotemporal dementia and motor neuron disease/amyotrophic lateral sclerosis. Her research straddles multiple steps on the pathway from genetic disease to targeted therapy. She uses next-generation sequencing data from dementia patients to identify potentially pathogenic DNA variants in candidate genes. She is developing high-throughput cellular assays of dementia-relevant biological phenotypes, in order to determine pathogenicity of DNA variants. Her work also involves in-depth characterisation of candidate disease genes using molecular biological and cell culture assays.

Carol's doctoral work at the University of Oxford (UK) established the mechanism of disease pathogenesis in a fatal neurodegenerative disorder, and developed a novel diagnostic assay that reduced disease diagnosis time from several weeks to a few days. More recently she discovered a new genetic cause of frontotemporal dementia-motor neuron disease (FTD-MND), and identified a transport gene for FTD and MND proteins as a potential drug target. Her work was also the first to investigate C9orf72 mutations, the most common cause of FTD, in Australian cohorts. She has over 70 peer-reviewed publications and is invited to speak at national and international scientific conferences on her work. She has gained over $3 million in funding as lead chief investigator and has held continuous NHMRC funding since 2010. She currently holds an NHMRC Boosting Dementia Research Leadership Fellowship.

Selected publications

For a full list of publications please see Dr. Dobson-Stone's Academic Profile Page