Neringa Pratuseviciute

Project Title: Deciphering pathways and impact on LRRK2 signalling network in hereditary Parkinson’s Disease

Attempts to slow or halt the progression of a common neurodegenerative disorder, Parkinson’s Disease (PD), have thus far failed. This can partly be explained by the complexity of its clinical presentation, contributing genetic and environmental factors and our incomplete understanding of its cause.

The discovery of rare genetic forms of PD – where the disease develops as a result of a single fault in a gene – has provided great insight into key cellular processes which are at the root of the disease. Genetic changes in LRRK2 directly cause 1-4% of all cases of PD worldwide and there is ample evidence that it also plays a role in the more common idiopathic form of the disease.

In my project we will utilize functional biomarker assays in peripheral blood and experimental studies in the lab using gene editing technologies in cell-based models to define whether patients with likely inherited PD have a convergent biochemical effect on the LRRK2 pathway. This will enable the identification of a common mechanism underlying neurodegeneration in hereditary PD, add to our understanding of the underlying causes of PD and provide targets for novel therapeutic strategies.