Objectives
Expanding the current understanding of the genetic architecture of Parkinson’s disease (PD) by increasing diversity in an open science framework, accelerating discovery and validation of novel disease-causing genetic mutations, and providing training and resources to a global community of scientists and clinicians.
Background
A substantial proportion of risk for PD is driven by genetics (20-30%), and these genetic links have advanced disease understanding and therapeutic development. However, there is still much to learn about identified genetic risk factors. We know that not all people with PD-linked mutations develop the disease, and, in those who do, onset can be late in life, suggesting the existence of protective genetic factors that prevent or delay disease. The path to further understanding the genetic architecture of PD requires working collaboratively to analyze samples from hundreds of thousands of people representing diverse backgrounds and disease experiences. Progress requires working openly and sharing data, processes, and results in close to realtime.
Methods
The Global Parkinson's Genetics Program (GP2) will engage existing global consortia and cohorts to expand genetic analysis efforts with samples from more than 150,000 people, including those with PD, people at risk for PD, and control volunteers. GP2 will use cutting-edge techniques to analyze samples from people around the world living in or with genetic ancestry from Africa, Asia, Europe, and Central and South America. Genotyping will be carried out using the Neuro+ array that is tuned for better characterization of diverse neurodegenerative disease samples and all data will be stored and analyzed on a centralized cloud platform.
Results
GP2 aims to democratize these efforts. There will be significant focus on training the future generation of data scientists, genetic researchers, and clinicians. The underlying data, analytical processes, and results from GP2 will be made available to the larger research community as quickly as possible, with minimum barriers to access and use.
Conclusions
Expanded understanding of the genetic architecture of PD has wide and deep implications for research and care. Findings and data generated from GP2 including new PD-linked genetic associations, relationships between mutations, protective variants, commonalities, and differences in the genetics of disease in individuals of diverse ancestry can help clinicians, investigators and companies better understand who may develop PD, at what time, and to what degree.