Funded Studies
Study Rationale: Lysosomes are cellular compartments involved in clearing molecular debris. Several genes that work in the lysosome, including GBA1, GALC, SMPD1 and others, are known to be involved in Parkinson’s disease (PD). However, we do not know much about how these genes functionally interact, or how they work together in the context of PD. In this study, we will use data from multiple sources to address this question and to study a newly suggested system for staging PD.
Hypothesis: We hypothesize that interactions between different genes, enzymes, and lipids may underly the pathology in numerous people with PD. We also hypothesize that there could be biological markers to support the new staging system of PD.
Study Design: We will use multiple datasets from multiple sources to address how the pathways and molecules involved in lysosomal function interact in PD. These sources will include data on genetics, enzyme activity and profiles of RNA, proteins and specific lipids. We will combine these datasets to identify interactions between different components that may affect the risk of PD and its stages and subtypes.
Impact on Diagnosis/Treatment of Parkinson’s disease: Our results will shed light on the desirable effects of drugs that target GBA1, many of which are currently being investigated in clinical trials, and may inform clinicians on staging of PD.
Next Steps for Development: If our project is successful, we will use the knowledge we gain to inform the development of drugs targeting GBA1 and other lysosomal components.