Monogenic - Sample Prioritization Working Group
The Sample Prioritization Group is one of the three working groups making up the Monogenic Network. Our working group goal is to prioritize samples for the Monogenic Network in a manner that is fair and democratic.
We are prioritizing cases where a monogenic cause of Parkinson’s disease (PD) is strongly suspected. Multiple factors will be considered, including prior genetic testing with a negative result, number of affected samples available per family, availability of samples from both non-affected parents, age at PD onset, and consanguinity. We are using scoring criteria with this aim in mind. As a guide, a link to the table used for prioritization scoring can be found here.
By focusing on samples with a high chance of a monogenic cause, we hope to increase the likelihood of discovering new PD genes. We also hope to gather samples from across the world and include patients from underrepresented populations.
Progress so far
- 241 research teams from 64 countries approached
- 32 research centers have completed all GP2 paperwork (25% from underrepresented regions)
- 2,170 external GP2 Monogenic samples received
- 910 samples sent for genotyping and 628 sent for WGS
- Sequenced data on 235 samples have been released to AMP® PD
- The MJFF Global Genetic PD Project and GP2 Monogenic Network merger: 89 MJFF GGPD centers contacted to join the GP2 Monogenic Network and 9,124 potential samples available
- GP2 Monogenic network now also accepting PD patients and asymptomatic carriers with pathogenic variants in known PD genes
- See Map
Remaining Year 3 Goals
- Process 12,500 samples promised by collaborators and potential collaborators
- Expedite paperwork and the contracting process and enable shipment of all available samples timeously
- Expedite process by sending samples for genotyping and WGS simultaneously, without waiting for genotyping results
- See Chart