Investigating the GBA1 pathway, from genetics to modifiers

National Institute On Aging

Investigators

Abstract

Damaging GBA1 variants are a key genetic risk factor for Parkinsons disease (PD) and Dementia with Lewy bodies (DLB). The general hypothesis is that reduced GCase activity is the mechanism for increased disease risk. The general goal is to identify modifiers of disease penetrance, but also to functionally dissect which genes/proteins play a role in the disease mechanisms. Overall, one can imagine that any gene/protein that influences GCase enzyme activity or disease penetrance is a good candidate as a potential therapeutic target.