The Parkinson's Disease Genetics Sequencing Consortium (PDGSC) was established following a National Institute of Neurological Disorders and Stroke workshop in June 2014 and brings together an international group of investigators from academia, not-for-profit organizations and industry to coordinate and accelerate PD genetics research. The consortium, using the cloud computing via Google Genomics, will conduct a standardized metaanalysis of existing data including >3,000 individuals with PD and ~10,000 healthy participants from various sources.
We plan to identify novel variants associated with PD risk and age at onset and will be creating a shared resource for other investigators to pursue their own hypotheses with both the dataset and variant browser developed as part of this project.
We will gather all available Parkinson's genetic data matched to neurologically healthy participants' data and will process these using identical, gold standard methods in the cloud to reduce artifacts and noise. To maximize power for rare variant studies, all samples will be analyzed jointly when possible. We will use appropriate single variant and rare variant burden tests to identify certain risk loci (parts of genes) and will also share this data as openly as possible while developing a variant server for front-facing browsing of data and summary statistics.
Impact on Diagnosis/Treatment of Parkinson's Disease:
The identification of new loci associated with Parkinson's risk and markers of progression will inform our knowledge of Parkinson's. The creation of a public-facing research resource will accelerate further advances in PD research.
Next Steps for Development:
This project will help identify novel biological systems to develop a knowledge base working toward a pathway to Parkinson's interventions.