Study Rationale: There is a critical need for greater understanding of the genetic component of Parkinson’s disease, both to predict and diagnose disease, but also to inform drug development efforts. However, many researchers do not have the required expertise to conduct their own genetic analyses.
Hypothesis: We hypothesize that in addition to conducting genetic research, providing user-friendly genetic data and offering collaborative opportunities to Parkinson’s Progression Markers Initiative (PPMI) investigators will allow us to promote Parkinson’s disease genetic research and build a portfolio of projects.
Study Design: We will utilize the rich genomic data available through the Accelerating Medicines Partnership: Parkinson’s disease (AMP-PD) studies and the Fox Insight study to perform genetic analyses of the impact of genetic variants in the TREM2 gene, which has been associated with risk for Alzheimer’s disease, on Parkinson’s disease risk and progression. We will also provide support to other PPMI investigators by providing curated, reformatted, user-friendly genetic data and through collaboration on proposed genetic research projects.
Impact on Diagnosis/Treatment of Parkinson’s disease: A greater understanding of the impact of TREM2 genetics in Parkinson’s disease may impact how cognitive impairment is treated in these patients. Additionally, promoting genetic research among PPMI investigators has the potential to provide a better understanding of the genetic basis for Parkinson’s disease risk and progression.
Next Steps for Development: A possible next step towards clinical application for the results of this study would be to investigate whether TREM2-targeted therapeutics have a positive impact on Parkinson’s disease progression in small models with Parkinson’s disease and TREM2 genetic variants.