Genetics is a key step in solving Parkinson’s disease (PD). Understanding how and why Parkinson’s and genetics fit together is a mystery the Parkinson’s Foundation is looking to solve through our landmark study, PD GENEration: Mapping the Future of Parkinson’s Disease. The Parkinson’s Foundation is excited to announce that we are accelerating the path to solving the puzzle of genetics and Parkinson’s through reaching a significant study milestone of providing genetic testing and counseling to 7,500 participants — 12 months ahead of the study recruitment timeline.

“Ensuring that the entire Parkinson’s community — including the 90,000 individuals expected to receive a PD diagnosis this year — has access to their genetic status is as critical as ever,” said James Beck, PhD, chief scientific officer for the Parkinson’s Foundation. “Every PD GENEration participant plays a part not only in their own personal discovery but also in feeding results to researchers which will advance future research.”

Halfway to its goal, the study is on track to provide genetic testing and counseling at no cost to 15,000 people with Parkinson’s, which will establish the largest Parkinson’s genomic dataset in North America.

“I cannot underscore enough how relevant this landmark study is. Our current and rapidly expanding knowledge of this complex disease highly suggests that the likely ‘first cure’ to be discovered will be specific to a genetic mutation for PD, which will then serve as a stepping stone for the ultimate cure for the general PD population,” said Hubert Fernandez, MD, Head of Movement Disorders at Cleveland Clinic and co-chair of the Parkinson Study Group.

In 2022, we expanded the study and made access to genetic testing possible for people with Parkinson’s in all 50 U.S. states, Puerto Rico, the Dominican Republic and Canada. In the next two years, we will introduce PD GENEration to Israel and other countries, bringing a new level of diversity and depth to Parkinson’s genetic research, which can lead to greater insights. So far, 22% of participants represent historically marginalized racial and ethnic groups.

The study continues to expand its reach with the addition of testing sites and collaborations with clinicians in historically excluded communities. This includes a partnership with Morehouse School of Medicine, to make the study more accessible for Black and African American persons in Atlanta, GA. Similarly, the Foundation extensively engages Hispanics and Latinos and provides genetic counseling in English and Spanish, a first of its kind for a study of this scale. Roughly 11% of Latino and Hispanic participants have a 17% genetic link to PD.

“Through the expansion of the PD GENEration study to more populations, we are bringing diversity to genetics data. In turn, this will accelerate the pace of research to help all people with Parkinson’s, regardless of where they live.”     — Carlos Singer, MD, professor of neurology at the University of Miami Miller School of Medicine

The study’s data are analyzed in real-time by the Parkinson’s Disease Gene Curation Expert Panel (GCEP), an international working group of genetic experts focused on neurodegenerative diseases formed by the Foundation within the NIH-funded Clinical Genome (ClinGen) Resources. Alongside the Parkinson's Foundation, Roy Alcalay, MD, leads the study as principal investigator.

Currently, investigators have found that 14% of participants have a genetic form of PD — a significant observation compared to the long-standing estimate of 10%.

PD GENEration empowers participants to understand their genetic results. This knowledge can help them make more informed decisions about care and take advantage of clinical studies that are newly accessible to them. Genetics can not only help us uncover potential causes of Parkinson’s, but results from this study can lead to improved treatments and care for everyone with Parkinson’s.

Enroll and help us further PD genetics research at Parkinson.org/PDGENEration.

Parkinson’s disease (PD) is the fastest growing neurological disease in the world. Currently, there is no single test or biomarker that can diagnose PD or monitor disease progression. However, a new study utilizing artificial intelligence may change the way we track Parkinson’s.

A lot like a warning system, a biomarker (short for biological marker) is used to help measure what is going on in the body. For example, the A1C blood test can help detect prediabetes. Early detection, treatment and expert care is vital to maintaining quality of life.

The challenge, so far, has been the lack of biomarkers for early PD diagnosis. Usually, PD is only diagnosed years after early signs appear— when movement symptoms (such as tremor, rigidity, and difficulty walking) are present. However, a new study may have found an early biomarker for PD.

In a groundbreaking study published in the journal Nature Medicine, “Artificial intelligence-enabled detection and assessment of Parkinson's disease using nocturnal breathing signals” (Yang et al., 2022), the authors developed an artificial intelligence (AI)-enabled system that could reliably:

1. Wirelessly identify people who have PD from their breathing patterns during sleep
2. Accurately assess people’s PD disease severity
3. Track PD progression over time

Study authors point out that the relationship between Parkinson’s disease and breathing is documented in various studies. Further, the authors note that this breathing link has been reinforced by more recent PD studies that go a step further, reporting that degeneration in the brainstem helps control breathing, issues of respiratory muscle weakness, and sleep breathing disorders. According to the study, “Since breathing and sleep are impacted early in the development of PD, we anticipate that our AI model can potentially recognize individuals with PD before their actual diagnosis” (Yang et al., 2022, p. 2207).

Artificial intelligence is a highly sophisticated technological tool that mimics human-like thinking to analyze enormous amounts of data, find patterns, make predictions and recommendations. Researchers designed an AI-based system for detecting PD, predicting its severity, and tracking disease progression over time using nocturnal breathing. The system can take the breathing input signals in two different ways:

1. Using a breathing belt placed in the person’s chest or abdomen, or
2. Using a Wi-Fi-like router that sends a low radio signal placed somewhere in the room. The signals transmitted are reflected off the person’s body and further analyzed.

Regardless of the signal source (belt or radio waves), once collected, the AI-based model processes the signals using a neural network. This network uses a series of instructions, called algorithms, that tells a computer how to transform the enormous amounts of data into useful information. Importantly, the person’s breathing patterns are automatically fed to the neural network to assess their PD status and its severity. No state-of-the-art equipment is required, and no special training is needed for the person with PD or caregiver.

To test their AI technology, researchers used a large and diverse dataset that included data from 11,964 nights of sleep with more than 120,000 hours of nighttime breathing among 757 people with PD and 6,914 control subjects (people without Parkinson’s). They sought to determine whether the AI diagnostic findings (from both belt and radio wave users) could compare to standard PD tests, such as the Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS). PD diagnosis was evaluated using: 1) diagnosis made by a clinician using the MDS-UPDRS PD rating scale, 2) the AI model developed by the authors.

Results

The AI system can:

• Predict the presence or development of PD with 90% accuracy
• Track PD progression and estimate PD severity as well as the MDS-UPDRS (PD rating scale used by doctors)
• Provide an objective, non-invasive, at-home assessment of PD while a person is asleep, without touching the body
• Combine measurements from multiple nights to achieve optimal test accuracy
• Provide nightly and weekly measurements in a person’s home, that tests such as the MDS-UPDRS would not be able to capture
• Eventually be deployed in the homes of individuals at high risk for PD (e.g., those with the LRKK2 gene mutation) to passively monitor their status and provide feedback to their provider

What does this mean?

With impressive accuracy, this AI system was able to successfully detect, assess and track disease severity of PD in a home setting by extracting breathing from either a wearable belt or from radio waves that bounce off a person's body while they sleep.

This AI model also provided initial evidence that a touchless, non-invasive system may be a useful biomarker for early detection or risk of PD. Further, according to the study authors, this method is low-cost, and would bring accessibility to PD care to people who live in rural areas not near medical centers that specialize in PD care. The system could be mailed to the person’s home, used for a few nights, and returned for evaluation.

Learn More

The Parkinson’s Foundation believes in empowering the Parkinson’s community through education. Learn more about PD and the latest in Parkinson’s research at Parkinson.org/Research, or by calling our free Helpline at 1-800-4PD-INFO (1-800-473-4636) for answers to your Parkinson’s questions.

• Join A Study: Explore the different opportunities to get involved with Parkinson’s research.
• Science News series: Learn more about studies like this going on in the PD research field.

The Parkinson’s Foundation is proud to invest in research initiatives that aim to improve our understanding of Parkinson’s disease (PD), work toward new treatments and, ultimately, a cure.

Two of our current researchers are investigating what happens when a protein integral to the development of Parkinson’s — called alpha-synuclein — begins to accumulate in the brain, and whether this early accumulation can lead to earlier diagnosis of Parkinson’s. Both studies could lead to important breakthroughs in diagnosing PD and understanding how PD develops and progresses.

Sarah Shahmoradian, PhD: Learning About Early-Stage Accumulation of Alpha-Synuclein in the Parkinson’s Brain

Sarah Shahmoradian, PhD, of the University of Texas Southwestern Medical Center, received a Parkinson’s Foundation Stanley Fahn Junior Faculty Award to study early-stage build-up of a protein called alpha-synuclein in the brain.

In Parkinson’s, the alpha-synuclein protein misfolds into an abnormal shape, causing the protein to clump together. These protein deposits have been linked to the loss of brain cells. In addition, alpha-synuclein deposits have been correlated with cognitive decline in PD.

Prior research has largely focused on the late stages of alpha-synuclein accumulation. However, much is still not known about the critical early events that cause a single abnormal alpha-synuclein molecule to recruit and transform additional molecules to become toxic. This leads to build-up and spreading to other brain cells.

Dr. Shahmoradian will apply state-of-the-art, high-resolution imaging techniques to uncover the molecular structure of alpha-synuclein within the brain cells, and to study how alpha-synuclein contributes to the disease process in Parkinson’s. This research will define where and how alpha-synuclein buildup first occurs within human brain cells.

Giovanni Bellomo, PhD: Creating A Diagnostic Test Could Detect Parkinson’s Earlier

Giovanni Bellomo, PhD, of the University of Perugia in Italy, received a Parkinson’s Foundation Postdoctoral Fellowship for Basic Scientists to improve the usefulness of a group of testing techniques called seed amplification assays (SAAs) in the early diagnosis of Parkinson’s disease.

Currently, there is no single test to diagnose PD, and movement disorders specialists often rely on the presence of movement symptoms to make a diagnosis. However, by the time someone with PD shows symptoms, the disease is already past its early phase. Early detection would allow earlier disease-modifying treatment, which could potentially benefit people with Parkinson’s.

One of the earliest known changes that occurs in brains affected with PD is the emergence of alpha-synuclein deposits. Tests like the seed amplification assays are used to detect a biomarker (a biological molecule that is a sign of disease). Having a biomarker for Parkinson’s could lead to earlier diagnosis and can improve outcomes for people living with PD.

Seed amplification assays have been successfully used to detect alpha-synuclein pathological changes in the cerebrospinal fluid (CSF) of people with Parkinson’s. However, several factors limit their use in clinical practice. To overcome the existing limitations, Dr. Bellomo will study whether the olfactory mucosa (i.e., nasal cells) can be used in SAAs. Collecting these samples is easily achieved by using a swab to scrape small amounts of olfactory mucosa from inside the nose. This non-intrusive test would represent a breakthrough in Parkinson's diagnosis, as no such test currently exists.

Second, Dr. Bellomo also aims to improve current CSF SAAs by making them capable of estimating the amount of disease-causing alpha-synuclein present in CSF samples. This is a key step toward testing treatments against pathological forms of alpha-synuclein.

Meet more Parkinson’s researchers! Explore our My PD Stories featuring PD researchers.

Did you know that the number of people diagnosed with Parkinson’s disease in the U.S. recently increased by 50%? In our latest Neuro Talk, Parkinson's Foundation Chief Scientific Officer James Beck, PhD, shares results from a groundbreaking study on Parkinson’s disease incidence and what these results mean for the PD community. Dr. Beck also explains why collecting data on Parkinson’s incidence is important and how this new incidence number will impact the future of PD research.

Read our blog article to learn more about Parkinson’s disease incidence.

If you are looking to find new treatments to help yourself or a loved one with Parkinson’s disease (PD) live better today, staying up to date with new advancements in PD research is essential. So why are scientific studies sometimes difficult to understand?

Our Neuro Talk video series breaks down what you need to know about various aspects of Parkinson’s research — in five minutes or less. These videos feature experts who discuss the current state of PD research and where the field is headed. The series also highlights what the Parkinson’s Foundation is doing to advance research toward a cure, from genetic testing to drug development initiatives.

Check out our top five Neuro Talk videos:

1. Myths and Realities of Parkinson's Disease

From symptoms to progression, there are many misconceptions about Parkinson's disease. Watch our Chief Scientific Officer, James Beck, PhD, debunk seven common myths about Parkinson's disease.

LEARN ABOUT SYMPTOMS

2. Top Questions About PD GENEration

Why should I participate in a genetics research study if I already know I have Parkinson’s disease? Watch our Chief Scientific Officer, James Beck, PhD, answer your top questions about the cutting-edge genetics research study, PD GENEration: Mapping the Future of Parkinson’s Disease.

REGISTER FOR PD GENERATION

3. How Can We Diversify Parkinson’s Genetic Testing?

Diversifying genetic data can help accelerate the pace of Parkinson’s disease research and get us closer to finding a cure. Watch our Associate Vice President of Research Programs, Anna Naito, PhD, highlight what the Parkinson’s Foundation is doing to reach new populations and to increase diversity in genetics research.

PD GENERATION EN ESPAÑOL

4. Venture Philanthropy Fund: Propelling a Future of New Parkinson’s Drugs Through Research

Parkinson’s research is underfunded, but our Venture Philanthropy Fund is working to accelerate the breakthroughs in treatments that people with PD need today. Watch our Chief Scientific Officer, James Beck, PhD, explain how this new research-driven investment fund can bring us closer to a cure.

SUPPORT VENTURE PHILANTHROPY

5. Medical Marijuana

Marijuana and Parkinson’s disease is a hot topic. Watch our Chief Scientific Officer, James Beck, PhD, explain what the Parkinson’s community should know about marijuana and what the Parkinson’s Foundation is doing to learn more about the positive effects of cannabis on PD symptoms.

READ OUR SURVEY RESULTS

Watch more Neuro Talk videos on our YouTube channel.

2022 brought exciting advancements and opportunities for the Parkinson’s Foundation. Thanks to everyone in our community, especially our donors, we were able to help more people live a better life with Parkinson’s disease (PD).

Here are 10 ways you helped us make a difference in 2022:

1. Spread PD Awareness to Nearly 850 Million People Through our PSA

In March 2022, we launched our Better Lives. Together. PSA aimed to raise PD awareness and help advance research and care for those living with this disease. Susan, Don and Tyaisha shared their stories, allowing our PSA to reach nearly 850 million people! Thank you for helping us spread awareness; it’s never to late to share our PSA on your Facebook or Instagram!

View the PSA here

2. Increased Access to Genetic Testing and Counseling Across the U.S. through PD GENEration expansion

In May 2022, we expanded our PD GENEration: Mapping The Future of Parkinson’s Disease international initiative to 23 sites — while still offering at-home testing — as a part of our commitment to reach new populations. PD GENEration offers genetic testing and counseling at no cost to people with Parkinson’s.

Enroll Now

3. Launched Venture Philanthropy Fund

We recently launched our newest drug-research fundraising initiative, the Venture Philanthropy Fund. Over the next three years, we will invest a minimum of $3 million into fast-tracking PD drug developments through our new, robust partnership with Parkinson’s UK.

Learn more

4. Designated 10 New Care Centers to Further Access to Care

In 2022, we added four Centers of Excellence and six Comprehensive Care Centers to our Global Care Network. Every center in our network provides high-quality PD care through a specialized team. Our new Comprehensive Care Centers are all located in previously underserved areas, including our first-ever Michigan, Hawaii, Louisiana, Connecticut and Arkansas locations.

View all centers

5. Invested $5.7 Million in Research Grants

In August, we invested $5.7 Million in 33 grants to accelerate cutting-edge PD research. Through research grants, the Foundation funds scientists conducting innovative studies across various aspects of PD to bring forward new therapies, treatments and ultimately a cure.

Read more

6. Funded $2 Million in Local Parkinson’s Programs

In July we awarded more than $2 million in community grants to PD programs across 42 states. From non-contact boxing classes to educational events, since 2011, we have invested more than $9.4 million in 716 community-based programs.

View all 2022 recipients

7. Launched the New Parkinson.org

In 2022, we launched an all-new Parkinson’s website! The new site now includes personalized filters that allow you to easily find the essential PD information you need at every stage of the disease.

Explore the new site

8. Funded $1.1 Million to Provide Expert PD Training for Neurologists and Nurse Practitioners

In July 2022, we funded $1.1 million in fellowships for clinicians to receive unique PD expert training, first-hand experience, and funding to launch individual research projects that aim to make life better for people with PD.

Browse our fellowships and early career awards

9. Awarded Joint Accreditation for Interprofessional Continuing Education

In 2022, we were granted Joint Accreditation™ for Interprofessional Continuing Education as a provider of continuing education. The status reflects the Foundation’s commitment to improving care for people with PD through impactful interdisciplinary training courses. As a jointly accredited provider, we can now accredit continuing education for multiple professions.

Explore our professional education opportunities

10. Nation-wide Parkinson’s Revolution raises $1 million

In only its second year, our Parkinson’s Revolution fundraiser has raised a collective $1 million! In 2022, more than 1,200 riders clipped in across 30 cities, and virtually, to help advance our mission toward a cure.

Find A Parkinson’s Revolution Near You

As much as we accomplished in 2022, we are committed to reaching further in 2023 to help even more people live better with Parkinson’s. Your continued support is the only way we can make that happen. Thank you.

We know that research is an essential part of finding a cure for Parkinson’s disease (PD), but how can we speed up the process? In our latest Neuro Talk, Parkinson's Foundation Chief Scientific Officer James Beck, PhD, discusses the Venture Philanthropy Fund — our newest research-driven investment fund. Dr. Beck explains why Parkinson’s research is underfunded and shares how the Venture Philanthropy Fund is working to accelerate the breakthroughs in treatments that people with PD need today.

Watch the latest Parkinson’s disease videos on our YouTube channel.