James Beck, PhD, on Illuminating Genetic Insights in Parkinson Disease Through PD GENEration

This video originally appeared on our sister site, NeurologyLive®.

"We’re talking to clinicians who discover anecdotally that the person they were sure had a genetic form of Parkinson doesn’t and then someone they never suspected turns out to have a genetic link. That really underscores the broad nature of what we’re trying to do with PD GENEration, which is to offer genetic testing to everyone in a clinic."

Each April, Parkinson’s Awareness Month is observed with the goal of raisingpublic understanding of the progressive movement disorder affecting nearly 1 million patients in the United States known as Parkinson disease (PD). The Parkinson’s Foundation recently initiated a campaign during the month for educating the public on key aspects of PD, from symptoms to treatment options.¹ Videos, tips, and resources such as answers to the most frequently asked questions about PD in both English and Spanish were shared in the animated, digital guide to Parkinson’s Awareness Month (PAM) campaign each week. PD Awareness Month additionally serves as a period for patients to share their stories and build a sense of community so as to not feel alone in their journey living with the condition, the Foundation noted.

The Foundation’s PD GENEration study, in partnership with Global Parkinson’s Genetics Program, offers alongside the PAM campaign whole genome sequencing (WGS) and genetic counseling to patients with PD across more than 8 countries. The program, which lead author James Beck, PhD, the chief scientific officer of the Parkinson’s Foundation, presented at the 2025 American Academy of Neurology (AAN) Annual Meeting, held April 5-9, in San Diego, California, includes a panel of 7 core PD genes and 21 additional genes linked to parkinsonisms, with materials adapted for regional languages and healthcare systems. The initiative, which utilizes a decentralized, “train the trainer” model, has enrolled over 18,000 participants since 2019, with more than 1800 undergoing WGS. A notable 12.2% positivity rate for PD-related variants has been reported, and all genetic data will be shared by way of the AMP-PD platform.²

At the AAN Annual Meeting, Beck, sat down with CGTLive®'s sister site NeurologyLive^® to highlight the evolving role of genetics in PD, emphasizing how WGS through PD GENEration could be revealing unexpected findings that challenge clinical assumptions. Although current treatment approaches remain symptom-focused, Beck noted that genetic data, such as mutations in GBA1 or LRRK2, may inform prognostic conversations and future clinical trial inclusion. He explained that the initiative also includes optional secondary findings panels, identifying not only Parkinsonism-related variants but also CDC Tier 1 actionable genes tied to hereditary cancer and cardiovascular conditions. Beck emphasized that these insights may support broader decision-making in neurology and underscore the potential of precision medicine in PD.

REFERENCES
1. Parkinson’s Foundation Guides People to Important Resources During Parkinson’s Awareness Month. News Release. Parkinson’s Foundation. Published April 1, 2025. Accessed April 29, 2025. https://www.parkinson.org/about-us/news/2025-parkinsons-awareness-month
2. Beck J, Galvelis KG, Dini M, et al. Implementing Whole Gene Sequencing and Genetic Counseling Internationally for People with Parkinson’s Disease: The PD GENEration Experience. Presented at: 2025 AAN Annual Meeting; April 5-9; San Diego, CA. Poster Session 3. Abstract 5-007.

Editor’s Note: Beck has disclosed that he has received personal compensation for serving as an employee of Parkinson's Foundation and that the institution of Beck has received research support from NIH, MJFF.