Funded Studies
Study Rationale:
Changes (variants) in the GBA gene are among the most common genetic factors that affect the risk of developing Parkinson's disease (PD). Individuals who carry the same GBA variants often develop symptoms of Parkinson's at different ages, despite genetic similarity. In the present study, we aim to identify variants in genes other than GBA that influence age of PD onset (the age when first symptoms appear) in people with GBA-associated Parkinson's.
Hypothesis:
We hypothesize that variants in different genes may influence age of onset in people with GBA-associated Parkinson's disease.
Study Design:
To examine whether genetic variants influence age of onset in people with GBA-associated Parkinson's, we will perform a detailed genetic analysis of changes across the entire genome and study their effect on age of PD onset in one of the largest groups of people with GBA-associated disease.
Impact on Diagnosis/Treatment of Parkinson's disease:
Identifying genetic factors that influence age of onset will provide new targets for drug development, for example, genes that are associated with a delayed onset of PD. It may also allow earlier diagnosis resulting from consistent follow-up with healthy individuals with disease-linked changes in GBA and with other genetic variants that are associated with an earlier than average age of onset.
Next Steps for Development:
After the discovery of variants that influence age of onset, additional studies of these variants will be necessary to understand exactly how they do that.