We are focusing on a specific subset of dementia and related neurodegenerative diseases—frontotemporal dementia (FTD), which is the second most common form of presenile dementia, and how it is linked pathologically and genetically to amyotropic lateral sclerosis (ALS), a fatal neurodegenerative disease affecting motor neurons.

Recent breakthrough discoveries (in which we have made seminal contributions) have identified common genetic causes for FTD and ALS. This project will leverage off our strong track record in this field, and make key discoveries in the molecular origins of FTD and ALS.

Research Program 1 will identify new genetic mutations responsible for inherited (familial) FTD/ALS. Importantly, we will also identify genetic mutations responsible for sporadic FTD/ALS. We are the only Australian team invited to join Project MinE, the largest global initiative ever established to solve the puzzle of sporadic FTD/ALS. The goal of Project Mine is to whole genome sequence 15,000 FTD/ALS patients. This will be the first study of its type in the world, and provides the best opportunity for discovery of causative gene mutations in sporadic FTD/ALS.

Research Program 2 will validate our discovery of genetic and epigenetic origins of FTD and ALS, through two parallel research pipelines. In phase 1, we will generate new cell culture and animal models based upon putative disease-causing gene mutations, to verify their involvement in disease pathogenesis. In phase 2, we will investigate the complex interplay between genetics, epigenetics and molecular mechanisms in the origins of FTD and ALS, using the new disease models generated in Phase 1.

Funding body

National Health and Medical Research Council

Scheme name

Dementia Research Team Grants 

Years funded

2015 – 2020

Lead institution

Macquarie University 

Industry partner(s)

CSIRO (Australia); Neuroscience Research Australia (Australia)