## Breadcrumb - [Home](/) - [Resources & Support](/resources-support) - [Parkinson's Today Blog](/resources-support/blog) ## Breadcrumb - [Home](/) - [Resources & Support](/resources-support) - [Parkinson's Today Blog](/resources-support/blog) Advancing Research # Research Shows Genetic Variants Are More Common in People with Parkinson’s Than Originally Thought Jul 30, 2024 New Parkinson’s Foundation research has found that [genetic variants](/node/448) associated with Parkinson’s disease (PD) are more common than researchers previously believed. Investigators in the Parkinson’s Foundation [PD GENEration: Mapping the Future of Parkinson’s Disease study](/advancing-research/our-research/pdgeneration "PD GENEration: Powered by the Parkinson’s Foundation") found that 13% of participants have a genetic form of PD — a significant observation compared to long-standing estimates. Results from the first 3.5 years of the study, which examined a broad North American cohort, was published in the peer-reviewed scientific journal [*Brain*](https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awae142/7716154). ![PD GENE 2024 findings infographic](/sites/default/files/styles/no_sizing/public/images/PDGENE-2024-findings-infographic.png?itok=cu56o_io) PD GENEration reached its goal of 15,000 participants this spring, ahead of schedule. Through the study, the Parkinson’s Foundation offers genetic testing for [PD-related genes](https://www.parkinson.org/advancing-research/our-research/pdgeneration/genetics-behind-pd) to any person with a confirmed PD diagnosis. PD GENEration is the first of its kind to return results via live genetic counseling in English or Spanish. This enables participants and physicians to make more informed decisions about their care, including enrollment in gene-specific clinical trials. Key PD GENEration findings published in *Brain* include: - 7.7% of participants carried a *GBA1* genetic mutation, 2.1% of participants carried a *PRKN* genetic mutation, and 2.4% of participants carried a *LRRK2* genetic mutation. All participants were informed about their genetic status through the genetic counseling component of the program. - The positivity rate for a genetic variant is significantly higher for individuals with high risk. Those with [young-onset PD](https://www.parkinson.org/understanding-parkinsons/what-is-parkinsons/young-onset-parkinsons), high-risk ancestry (such as Ashkenazi Jewish, Spanish Basque, or North African Berber), or a first-degree relative affected with the disease had an 18% positivity rate. The positivity rate for individuals without one of those risk factors was nearly 10%. - Many of these participants may qualify for precision medicine trials, showing the feasibility and importance of broadly offering genetic testing. “We did not anticipate the high positivity rate for genetic mutations, specifically the nearly 10% having a positive result even without any known genetic risk factors,” said Roy Alcalay, MD, MS, Tel Aviv Medical Center, Israel, and the Department of Neurology, Columbia University Irving Medical Center, and lead principal investigator for PD GENEration. “Further, the speed at which participants enrolled in PD GENEration is a testament to the interest of people with PD to obtain data on their genetic status. Taken together, the positivity rate and the high interest in getting genotyped will hopefully translate to increased participation in observational studies and clinical trials toward therapies targeting these genes, simplifying precision medicine clinical trials in PD.” ### Announcing the Next Phase PD GENEration is moving into its next phase with support from the [Global Parkinson's Genetics Program](https://gp2.org/) (GP2), a program of the Aligning Science Across Parkinson's (ASAP) initiative. ASAP's funding allows the Parkinson’s Foundation to accelerate the study’s impact by focusing on those who have been historically underrepresented in research. Through wide-scale recruitment, the study is reaching a larger and more diverse community in the U.S., Canada and Latin America. The Parkinson’s Foundation aims to enroll an additional 8,000 participants, including 2,400 in Latin America, during the next phase of the study. “PD GENEration is designed to be inclusive and accessible to all populations, with the goal of improving clinical outcomes for everyone. We are proud that the data we have collected through PD GENEration reflects the largest and most diverse North American cohort ever tested – and even though we reached our initial recruitment goal of 15,000 this spring, bigger things are on the horizon,” said James Beck, PhD, Parkinson’s Foundation chief scientific officer. [Read the full press release](/about-us/news/genetic-variants-more-common "Published Research from the Parkinson’s Foundation Shows Genetic Variants Are More Common in People with Parkinson’s Disease Than Originally Thought") **[Learn more and enroll in PD GENEration.](/advancing-research/our-research/pdgeneration "PD GENEration: Powered by the Parkinson’s Foundation")** ## Related Materials Podcasts ### [ Episode 67: PD GENE: Genetic Counseling ](/library/podcast/67) [Listen Now](/library/podcast/67) Podcasts ### [ Episode 64: The Background of the PDGENEration Initiative ](/library/podcast/64) [Listen Now](/library/podcast/64) ## Related Blog Posts ![Older man playing with his granddaughter](/sites/default/files/styles/500x360/public/images/pdgeneration-blog_0.jpg?h=e285aa82&itok=oN9B94P2) Advancing Research ### [ How exactly does PD GENEration work? ](/blog/research/how-pdgeneration-works) READ NOW ![neurotalk-blog-jim](/sites/default/files/styles/500x360/public/images/neurotalk-blog-jim.jpg?h=8e7b635d&itok=ppJc-Tvr) Advancing Research ### [ Neuro Talk: Top Questions About PD GENEration ](/blog/research/neuro-talk-pdgeneration) READ NOW ![navigating genetic testing blog](/sites/default/files/styles/500x360/public/images/navigatinggenetictesting-blog-1.png?h=45815c72&itok=d-TEaN0-) Science News ### [ Navigating the World of Genetic Testing ](/blog/science-news/genetic-testing) READ NOW [view all blogs](/resources-support/blog) ### Join the PD GENEration Today PD GENEration is an initiative that offers genetic testing and genetic counseling at no cost for people with Parkinson’s disease. 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