PD GENEration: Mapping the Future of Parkinson’s Disease is an international Parkinson’s Foundation research study that has enrolled more than 20,000 people with Parkinson’s disease (PD) since its launch six years ago. Study data has already led to eye-opening insights into the disease, such as determining a more precise range of 12-13% of people with PD having a genetic link to the disease — significantly more accurate than the previously estimated 5-10% average prevalence.

As PD GENEration continues to expand, the Parkinson’s Foundation remains dedicated to its core mission of educating people with Parkinson’s. The Foundation held a live webinar to share what we’ve learned from PD GENEration so far and where the study may be headed. Joining the study team speakers were two PD GENEration participants who spoke about their experiences. This webinar offered PD GENEration participants and their families the opportunity to ask questions of the study team.   

The following article is based on the Parkinson’s Foundation webinar PD GENEration: Advancing Research, Empowering Lives, hosted on January 21, 2025 by James Beck, PhD, Chief Scientific Officer, with guests Roy Alcalay, MD, PD GENEration Principal Investigator, Vanessa Russell-Palmer, Parkinson’s Foundation Research Advocate, and Lisa Kirk, PD GENEration participant.

Watch the full webinar recording now

Previous Genetic Testing Studies Did Not Share Testing Results with Participants

A scientific focus on the genetic risk factors that influence PD is a relatively recent development for the PD research field, which has only gained momentum since the discovery of the first PD-related gene in the 1990s. Since then, more clinical studies began to include genetic testing as a part of their research protocols.

However, the genetic information collected in these studies was not shared with participants, sometimes putting researchers in difficult situations where they identified genetic risk factors but could not let participants know due to trial protocols. Many studies did not include genetic counseling where a trained and licensed counselor reveals and explains test results.

This left many of the people living with PD who were involved in these trials unaware of their PD genetic risk factors. Many then missed opportunities to join future clinical trials centered on their genetic variant, slowing down the progress of PD research for those populations.

“You cannot undo knowledge. If you’re telling someone that they carry a mutation, we cannot take it back,” said Dr. Alcalay. Thus, a hallmark of PD GENEration is to deliver the potential life-changing genetic test results with care and consideration through certified genetic counselors at no-cost to study participants.

PD GENEration Begins: From Pilot Study to Soaring Engagement

In late 2019, the Parkinson’s Foundation launched PD GENEration, which was designed to be accessible to all people with a confirmed Parkinson’s diagnosis. This open approach was in contrast to many previous PD genetics studies, which often limited participation to specific populations. The PD GENEration genetic panel focuses on seven of the most common variants in PD-related genes, all of which are widely recognized as relevant in PD research fields.

In response to COVID-19 precautions in the study’s early years, PD GENEration quickly evolved, providing the ability for people to join the study through an at-home test kit or in-person at a clinical study site.

In the next few years, PD GENEration grew its study population with ever-increasing momentum as more healthcare sites and genetic counselors were brought on board across the country. In March 2024, the total participant count reached 15,000, a significant milestone that encouraged a new phase of expansion.

A goal of PD GENEration is to accelerate PD research. The Parkinson’s Foundation is doing just that by vastly expanding the amount of genetic data available for analysis. To obtain the necessary amount of DNA for analysis, PD GENEration pivoted from saliva-based sample collection to blood-based. Thanks to the innovative Tasso+ device, which allows for quick at-home blood sample collection in a safe and comfortable way, people can continue to join the study remotely while also ensuring they can fully contribute to advancing PD research.

More than Just Data: Knowledge as Empowerment

Since the beginning, PD GENEration’s goal has been to make genetic testing accessible to everyone living with Parkinson’s. In doing so, the study not only collects and shares valuable data with the PD research community in search of treatment breakthroughs but also empowers participants with a greater understanding of their unique disease journey.

Lisa Kirk, a former search-and-rescue canine handler, remembers the shock of learning that her early symptoms were not just aging-related. “It never occurred to me that it was Parkinson's. I thought at the most I had essential tremors. When I did get the diagnosis, it was one of those moments when you remember every detail. You remember the weather, what you were wearing, who was with you. It was a shock.”

Over time, as Lisa better understood how to manage her PD symptoms, she began searching for ways to participate to PD research.

“Whatever treatment I received was because someone else, another patient with Parkinson’s, had participated in a study of some kind. I wanted to help make a difference for other people. That was what motivated me to participate in the PD GENEration study.”

- Lisa Kirk, PD GENEration participant

For Vanessa Palmer, her diagnosis came after an orthopedic injury. “I noticed on my right side in my hand, it felt like I had a tremor, but when I looked I couldn’t see any movement. My orthopedic doctor just thought I had a lot of sciatic nerve damage and said ‘We’ll just watch it’. But by the end of 2015, I had a true resting tremor.”

Eventually she found a neurologist who ran some tests. “The neurologist asked me ‘Did you bring anyone with you?’ I said no, I’m on my lunch hour, and she said ‘Well, I think you have early-onset Parkinson’s disease. And it just took the wind out of me.” A second opinion at a movement disorders clinic confirmed Vanessa’s PD diagnosis.

Her first few years of living with PD Vanessa was in survival mode. “Just taking my meds, hoping they’re working and just trying to survive.” One day her doctor asked if she wanted to participate in research. She said yes “because at this point, I wanted to do something to contribute or fight back. The first thing she presented to me was PD GENEration.” Having no family history of PD, Vanessa was interested to better understand the cause of her diagnoses.

The genetic results and counseling provided to Lisa and Vanessa had their share of surprises. Lisa learned that she had the GBA1 mutation, the most common PD risk factor. “That’s when I realized I needed to talk to my family and tell them that hereditary PD is a possibility. I understand that most people with this mutation never get Parkinson’s, but some do so I wanted to give my family a heads up,” Lisa said.

The unexpected result related to Lisa’s ancestry. Lisa believed that her family history was based in northern Europe, but from the genetic testing she learned that her genealogy is primarily French with an Ashkenazi background, a genetic heritage linked to greater risk for PD. “All of these things were grounding,” Lisa says, “It actually helped me feel like I have a better understanding of who I am and my role in Parkinson’s.”

Vanessa’s results revealed that she did not have a genetic tie to PD. “At least I know, and I’m not worried about my children and my grandchildren to come,” she said. While the results may not have helped explain Vanessa’s diagnosis, they still help researchers look for new undiscovered causes or risk factors for PD, which “helped me feel better, and I wanted to help other people feel better, and [as an African American] I wanted to help get more diversity in the database.” Vanessa would go on to become a Parkinson’s Foundation Research Advocate in 2023, and continues to support her PD community through outreach, information sharing, and empowerment.

As the study progresses, driven by collaboration between researchers, clinicians and the PD community, PD GENEration is confident that it can help contribute the data and knowledge to help answer these and many other questions.

There is still so much more to understand about Parkinson’s, but the continued success and support of PD GENEration is undoubtedly helping the science behind PD and the community move forward, together.

Learn more about PD GENEration and how you can enroll today.

In 2024, Moving Day, A Walk for Parkinson’s, Parkinson’s Revolution and Parkinson’s Champions raised $8.3 million to advance Parkinson’s disease (PD) research, improve access to care and connect people with PD and their loved ones to life-changing resources and support. 

These fundraisers and volunteers inspire us as they passionately spread Parkinson’s awareness and make Parkinson’s Foundation events a success. Meet Cindy, Hailey, Peggy and more community members who help us move toward a cure:

Cindy Builds Community Through Caregiving

Cindy George set out to learn as much as she could about Parkinson’s disease after her husband, Dale, was diagnosed 13 years ago. Together, they have grown their local PD community by starting a support group, participating in Moving Day Salt Lake City and more.

“People with Parkinson’s are superheroes who deserve to be recognized, and that’s what happens at Moving Day. It highlights the importance of exercise for people with Parkinson’s and provides so much education and information.”

KEEP READING

Hailey Honors Dad, Rallies Friends through Parkinson’s Revolution

After her dad was diagnosed with PD, Hailey Harn wanted to wanted to find a positive and productive way to channel her energy toward a mission that would make an impact. She was touched when friends and other members of her community wanted to make an impact alongside her.

“Friends enthusiastically joined my team to raise money through Parkinson’s Revolution — we all realized PD touches far more people than we thought. With each donation came a story of a relative, colleague or friend who also had a connection to PD, and gratitude for working toward PD education, care and a cure!”

KEEP READING

Peggy Completes 50 Marathons in 50 States to Raise Parkinson’s Awareness

Peggy was halfway to her goal of completing 50 marathons in 50 states when she was diagnosed with Parkinson’s. She didn’t let this deter her, and finished her final marathon as a part of Parkinson’s Champions on September 24, 2024.

“I found out during a race, around mile 20 when my gait and balance started to suffer, that I was going to have to work harder to make this goal happen with Parkinson’s. Other concerned racers asked if I needed help or medical attention. I thanked them for their concern and said, ‘This is what Parkinson’s looks like; help us find a cure.’”

KEEP READING

Piedmont Fayetteville Unites Parkinson’s Community with First Community Walk

When Evan M. Johnson, MD, MSc, joined Piedmont Fayette Hospital in Fayetteville, GA, as a movement disorders specialist, he told his team his goal was to reach as many people as possible to support those with Parkinson’s and educate others. Organizing a Moving Day Community Walk for Fayetteville allowed them to unite their community and raise almost four times their fundraising goal.

“Community events like this are special moments to recognize and celebrate all individuals who are connected to Parkinson’s. Doing so helps reinforce to patients that they are not alone but are a part of a large community of peers and support.”

KEEP READING 

Read the Publication Now

DOWNLOAD THE PDF

In 2024, the Parkinson’s Foundation expanded its global genetics study, PD GENEration: Mapping the Future of Parkinson’s Disease, both geographically and biologically. The study team’s recruitment efforts led to an increase in the diversity of participants. Changes to sample collection and genetic sequencing allowed for the inclusion of more than 30 new genetic markers of interest. The results from three of these scope-expanding initiatives were presented as posters at international Parkinson’s and medical conferences. Below we highlight each poster.  

View All Posters

1. Bringing PD Genetic Testing to Latin America with LARGE-PD 

For large-scale studies that provide genetic sequencing and counseling like PD GENEration, participant diversity is essential. Having genetic data from people across the world creates a strong foundation for impactful research breakthroughs. With that in mind, the Parkinson’s Foundation partnered with the Latin America Research consortium on the Genetics of Parkinson’s Disease (LARGE-PD) to expand the PD GENEration study to new countries. In just a few months, we have provided valuable genetic testing and counseling to new, underserved populations, broadening our understanding of the disease.  Six LARGE-PD sites offer the PD GENEration study today. The six selected sites are in Colombia, Chile, Peru, Mexico, El Salvador and the Dominican Republic, supporting a wide range of Latin American communities. Every PD GENEratrion site offers high-quality testing and genetic counseling. 

These sites enrolled 446 new participants and trained 16 clinicians to return genetic testing results — maintaining PD GENEration's momentum into the new year. This LARGE-PD collaboration and these six new Latin American sites support PD GENEration’s goals of accelerating clinical trials in PD, improving PD care and research and empowering people with PD and their care teams. 

2. Building Trusted Connections with the Hawaii PD Community 

PD GENEration recruitment in Hawaiʻi began in 2022, but participation was limited to at-home testing with only a few people signing up each month. With help from the Hawaiʻi Parkinson Association (HPA), a local partner since 2018, the Parkinson’s Foundation worked with The Queen’s Medical Center in Honolulu as Hawaii’s first PD GENEration site in 2023, which is also a Parkinson’s Foundation Comprehensive Care Center. This location immediately accelerated participation with an increased average of nearly 20 new people joining the study every month.  

As sign-ups increased, we learned new insights into the Hawaii PD community. In particular their historical mistrust of the medical field and hesitance toward sharing personal health information due to western colonization. Leading with empathy and understanding of this historical trauma, the PD GENEration outreach team worked closely with local organizers to drive an outreach campaign in hopes of breaking down barriers to inspire joining PD GENEration.  

In October 2024, PD GENEration team members met with Rock Steady Boxing members at the HPA Resource Center, two pillars of the Honolulu PD community. These introductions provided information about the PD GENEration study, including its history, rationale and impact, as well invitations to the upcoming Parkinson’s Foundation Research and Care Event. At this event, attendees learned about what's new in research, how research shapes treatments, and care tips for managing PD symptoms. 

These outreach efforts helped: 

• 30 new people with PD join PD GENEration, over half of whom were from diverse (non-white) populations and 90% had never participated in PD research before.  

• This amounted to a nearly 13% jump in total Hawaii resident enrollment.  

As this momentum continues, PD GENEration and the entire PD research field will gain valuable genetic information from this unique community while the Hawaii participants gain key insights into their diagnoses and personal health. 

3. Diving Deeper into Genetic Testing with the Tasso+ Device 

Accessibility is key for the PD GENEration study. The ability for people with PD to participate either in person at a medical or through an at-home mail-in test has ensured that anyone interested can participate. This accessibility was top-of-mind when the study entered its next phase in March 2024, expanding its genetic testing panel from the nine major PD-related genetic mutations to 40 targets, adding 21 genes with a potential PD connection.  

Participants can now request testing for 10 CDC Tier 1 genes related to other diseases like breast cancer, ovarian cancer, Lynch syndrome, and familial hypercholesterolemia (high cholesterol).

To investigate this wider range of genes in a single test, the format would have to change. While the amount of quality DNA obtained from a cheek swab is sufficient when testing for just a few PD gene mutations, a blood sample is needed for collecting enough testable DNA for the new gene panel. This change is simple for study sites, but the PD GENEration team worked to find a new way to offer at-home testing for the new panel.  

In February 2024, PD GENEration partnered with the company Tasso to produce the study's new blood sample collection kit, called Tasso+. Learn more in this video. In just a few months, the new Tasso+ kit was fully integrated into at-home testing. As of November 2024, more than 1,000 new PD GENEration participants have enrolled using the Tasso+ device with a 97.1% kit success rate. 

With the Tasso+ kit, PD GENEration can now collect and provide even more valuable genetic information to PD researchers, potentially unlocking more clues behind disease progression that can lead to improvements in treatment and care for people with Parkinson’s everywhere. 

View All Posters  

Learn more about PD GENEration and enroll today.