Dementia Neurogenomics

Based at the Brain and Mind Centre (BMC), our research team investigates genes that are mutated in dementia and related neurodegeneration, particularly frontotemporal dementia (FTD) and motor neuron disease (MND). Our research straddles multiple steps on the pathway from genetic disease to targeted therapy. We use whole-exome and whole-genome DNA sequencing data from dementia patients to identify potentially pathogenic DNA variants in candidate genes. We are also developing high-throughput cellular assays of dementia-relevant biological phenotypes, such as subcellular localisation and aggregation of key pathological proteins. We are using these to determine pathogenicity of DNA variants in known dementia genes, and prioritise variants in novel candidate genes for further analysis. In addition, we perform in-depth characterisation of candidate disease genes using molecular biological and cell culture assays.

  • Mutations in genes causal of white matter disease and dysregulation of lipid metabolism in frontotemporal dementias – John Kwok
  • The role of mutant CYLD in frontotemporal dementia and motor neuron disease – Carol Dobson-Stone

Meet our Research Group

Professor Clement Loy

Director & Neurologist, Westmead Hospital; Professor of Clinical Epidemiology, USyd

  • Neurologist
  • Dementia
  • Genetics

Associate Professor John Kwok

Principal Research Fellow, USyd

  • Genetics
  • Epigenetics
  • Biomarkers

Dr Carol Dobson-Stone

Senior Research Fellow, USyd

  • Genetics
  • Molecular Biology
  • Cell Culture