Sample Prioritization Working Group

The Sample Prioritization working group prioritizes samples based on the input from the monogenic portal.

About the 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.

Meet the leads & co-leads

Lead

Christine Klein, MD

University of Luebeck | Germany

Co-Lead

Kishore Kumar, PhD

Garvan Institute of Medical Research and Concord Repatriation General Hospital | Australia

Co-Lead

Soraya Bardien, PhD

Stellenbosch University | Cape Town, South Africa

Meet the participants

Member

Claire E Shepherd, PhD

Neuroscience Research Australia | Sydney, Australia

Member

Julie Hunter, BSc

ANZAC Research Institute | Australia

Member

Pedro Chana

CETRAM | Chile

Member

Melina Ellis

Concord Hospital | Australia

Milestones

Completed

  • GP2 Monogenic network accepting PD patients and asymptomatic carriers with pathogenic variants in known PD genes