PD GENEration: Advancing Research, Empowering Lives

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.