The Makinen EMBL Australia Group

The Makinen EMBL Australia Group

The Makinen EMBL Australia Group’s mission is to identify synergistic patterns of genetic variation that predict chronic diseases later in life. Led by Associate Professor Ville Makinen, the group is particularly interested in Alzheimer’s disease since it is one of the few remaining common conditions without any effective therapy.

The team's work includes epidemiology and statistics of large human datasets to discover new drug candidates and follow-up studies to verify the biological mechanisms in cell cultures and animal models.

Alzheimer’s disease is the most common cause for dementia. It typically affects people over the age of 65 with exponentially increasing risk towards the oldest age groups.

What triggers Alzheimer's disease is unknown and we do not fully understand the biological processes when the disease takes hold. The lack of etiological knowledge is a major roadblock to therapies. So far, all clinical trials targeted at the prevailing mechanistic hypothesis have failed.

Neurodegenerative diseases could stem from impaired autophagy and dysfunctional endosomal vesicle trafficking in the ageing brain. In Alzheimer’s disease, dysfunctional autophagic vacuoles, which are one of the intermediate stages of trafficking, accumulate in, and between, neurons. A/Prof Makinen’s group has found a genetic association and a selective gene expression signature that implicated the endo-lysosomal system genes as a group in both Alzheimer’s and Parkinson’s diseases. For these reasons, the mission of the Makinen EMBL Australia Group is to connect the patterns of genetic disease associations with downstream effects on gene expression and on the regulation of the endo-lysosomal system.

As ageing affects multiple organ systems simultaneously, the group is conducting additional lines of investigations into diabetes and its complications, metabolic dysfunction and diversity in ageing populations and the role of biomarkers in the prediction and care of cardiac conditions. To enable new types of experiments, the Makinen EMBL Australia Group is also developing new statistical methods for systems biology and genomics.