Gene and Variant Curation of Parkinson’s Disease Genes by an Authoritative Expert Panel

There are 502 commercially available genetic tests for PD. The Parkinson’s Foundation collaborated with MDSGene to establish an expert panel for Parkinson’s genetics under ClinGen — an FDA-recognized, global resource that uses criteria to determine gene-disease relationships. The ClinGen Parkinson's Disease Gene Curation Expert Panel (GCEP), formed in 2020, seeks to provide clarity in the world of PD genetic testing, working to establish genetics testing guidelines.

“The recognition of PD GENEration at an international forum speaks to the impact that this study has already made in the field and represents our commitment to delivering improvements to Parkinson’s disease care and research. We are confident that PD GENEration’s contributions to the global research community will bring us closer to scientific breakthroughs.”

Anna Naito, PhD

Associate Vice President of Clinical Research Parkinson’s Foundation

The PD GCEP aims to inform the FDA and pharmaceutical companies on the prioritization of key genes linked to the disease. Ultimately, this work will accelerate the progress towards bringing more effective treatments to people with PD.

The PD Gene Curation Expert Panel (PD GCEP) members convenes 58 experts from several countries representing geneticists, PD clinicians, biochemists, genetic counselors and pharmaceutical companies.

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Closing the Gap: Increasing Access to Genetic Testing and Counseling for Hispanics Through PD Research

The incidence of Parkinson’s (the measure of new cases arising in a population over a given period of time) across the globe is steadily increasing. For researchers to better understand the cause of PD and its various symptoms, it is imperative to collect as much data from as many diverse populations as possible. Diversifying genetic data can help accelerate the pace of Parkinson’s research and our understanding of the causes and many symptoms associated with PD.

This poster describes the efforts taken through the PD GENEration genetic study and the GEN-EP Latino study to reach Hispanic populations in the U.S., Puerto Rico and the Dominican Republic. To date, 151 results have been reported to Hispanic PD participants (49 from PD GENEration genetic registry and 102 from GEN-EP).

• 22 participants (or 15%) were identified carrying a well-known PD gene.
• More than half (55%) have a variant in if PD-related genes: GBA, followed by LRRK2 (32%) and PRKN (14%).

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PD GENEration Clinical Phase: Genetic Diagnostic Yield and Clinical Characteristics

This study aims to assess the prevalence of genetic forms of PD in North America through PD GENEration. Among the North American cohort of PD GENEration, 14.8% of participants carried a genetic variant linked to PD. Widespread genetic testing in North America will help identify previously unsuspected individuals with major PD gene variants, and, ultimately, qualify more people for enrollment in precision medicine clinical trials for PD.

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Implementing Team-Based Outpatient Palliative Care in Parkinson’s Foundation Centers of Excellence: Study Design

Despite mounting evidence on the benefits of palliative care for people with neurologic illness and their families, there are few models of how to implement and disseminate this model of care. The Parkinson’s Foundation developed a model to implement palliative care treatment, based on a successful team-based approach developed in three U.S. Parkinson’s Foundation Centers of Excellence.

Authors describe the study design and early lessons of the implementation project that aims to make integrated palliative care a new standard of care across the 33 U.S. centers.

• Palliative care is operationalized around five measurable and actionable pillars: non-movement symptom management, advance care planning, caregiver support, emotional/spiritual support and timely referrals to specialist PC and hospice.
• The use of an education and training course for healthcare professionals, quality improvement coaching, and the development of shared central resources through the Parkinson’s Foundation.
• Five core teams are assisting with the development and implementation of palliative care across the centers.

Overall, there is a need for increased palliative care services for people with Parkinson’s and their families to help address gaps that exist in current models of care. Previous research has shown that palliative care significantly contributes to a better quality of life for people with PD, and that outpatient palliative care may help with symptom management and end-of-life care. This implementation project seeks to make integrated palliative care a new standard of care across all Centers of Excellence, potentially impacting 140,000 people with Parkinson’s who receive care at these centers.

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Patient Advisory Boards: A Model for Patient Engagement in Parkinson’s Disease Comparative Effectiveness Research

To address the lack of comparative effectiveness research (CER) in PD and the need to begin building an infrastructure to address this gap, this pilot project aimed to build a replicable, sustainable model of patient engagement in PD CER at academic research centers through patient advisory boards. This pilot offers a model for patient engagement in PD academic research centers that can facilitate the involvement of people with PD from the community in different stages of the research process, such as when setting research priorities, protocol design and considerations.

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Screening and Treatment of Depression in Parkinson’s Disease within Movement Disorders Centers: A Quality Improvement Initiative

The Parkinson’s Outcomes Project is a study that tracks and monitors the care of people with PD over time at select Parkinson’s Foundation Centers of Excellence (designated medical centers that treat people with PD). Among Centers of Excellence, more than 50 percent of people with PD report that their depression is not treated or responded to with mental health services. This study suggests that regularly screening for depression among people with Parkinson’s can help identify untreated depression and prompt treatment, improving quality of life.

Study takeaways include:

• Assessing the feasibility of systematic depression screening using a survey of people with PD at six centers and determined barriers during appointments.
• Results: 133 individuals screened positive for depression and will be followed for treatment and changes in quality of life.
• Systematic screening for depression will help improve the standard of care and quality of life by educating clinicians and people with PD.

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Stay up to date with the latest Parkinson’s Foundation programs, research and happenings in our Parkinson’s Today blog.

Apathy can significantly impact quality of life for people with Parkinson’s disease (PD). As many as a third of people with Parkinson’s experience this motivational disorder, often before a diagnosis, making it difficult for them to maintain interest in daily activities. The mechanisms of apathy in PD are poorly understood, as it can be difficult to treat and often becomes more pronounced over course of the disease.

Movement disorder specialist and researcher Alana Kirby, MD, PhD is directing her research work towards understanding, and ultimately solving, the problem of apathy in Parkinson’s.

Based at Rush University Medical Center, a Parkinson’s Foundation Center of Excellence, Dr. Kirby diagnoses and treats people with PD at Rush’s Parkinson’s Disease and Movement Disorders Program clinic.

Using cutting-edge technology, Dr. Kirby is developing an animal model of apathy. By studying rat behavior and motivation, she is categorizing which responses in rats are akin to the condition of apathy in humans. She will later use this information to test what factors in the progression and treatment of PD lead to apathy.

“While there are things you can try clinically to help boost the motivation that is missing with apathy in PD, there is no treatment specifically designed for it,” said Dr. Kirby. “I want to create a benefit for people with PD in my lifetime in areas of greatest need, like solving the issue of apathy. I am focused on the ‘immediate gratification’ of impact I can make in 10 to 20 years,” she said.

At the outset of her career, Dr. Kirby completed specialized movement disorders training from 2018-2020 at Rush. Her training was funded through the Parkinson’s Foundation Movement Disorders Fellowship Program, which supports medical institutions in the two-year training of fellows. The Foundation has funded more than $15 million towards the training of more than 150 movement disorders neurologists since 1980.

The supportive environment that Dr. Kirby’s fellowship offered, as well as the freedom to pursue her own ideas in research during her fellowship, were particularly impactful to her. “I was actively encouraged to go towards my passion during my fellowship, and that opportunity in the research world is very rare,” she said.

During her fellowship, Dr. Kirby pursued a line of research that was not as successful as she would have hoped. However, her self-defined “failure” taught her more than success would have. “That experience to dive into something no one else was working on at the time taught me so much, and led to my current project,” said Dr. Kirby.

The natural flow between clinical work and lab work helps Dr. Kirby approach both with enthusiasm and fresh perspectives. “On a regular basis, I am able to evaluate the most important unmet needs in my patients’ care, which helps me decide which topics are important for me to study,” said Dr. Kirby. “This guides my research and gives me a leg up on those who don’t see people with PD on a regular basis.”

Dr. Kirby is guided by the principal that better Parkinson’s outcomes in and out of the exam room start with the power of observation and connection.

“From my perspective as a doctor, my ability and desire to observe leads to better outcomes for patients. I really like how much of my work is based on looking at patterns and coming to a holistic diagnosis based on my observations. I learn so much from talking to patients, and from critically hearing and understanding their history.” - Dr. Kirby

Talking to people with Parkinson’s teaches Dr. Kirby something new about approaching the complexities of this disease.

"Every patient really is different,” said Dr. Kirby. “You go through the same thought process over and over again in assessing patients, but you still have to do a lot of problem solving. You also create relationships with patients that last for years and decades, and that is very important to me.”

Dr. Kirby is grateful to work within a Parkinson’s Foundation Center of Excellence where her patients have access to a continuum of care resources, and feels strongly that an interdisciplinary approach to treating PD is critical.

“I rely heavily on other modalities in care of patients with PD,” said Dr. Kirby. “Physical therapy, occupational therapy, speech therapy, swallow assessment, behavioral therapies — those modalities all create better outcomes.”

For Dr. Kirby, funding early-career PD research as the Foundation does is critical to making progress towards better treatments and ultimately a cure.

“The Parkinson’s Foundation levels the playing field in the research world,” said Dr. Kirby. “This is especially true for early-stage researchers or people who are mostly clinical but have interesting ideas. Maintaining a pipeline of research, and nurturing crops of young scientists like me, is good for the Parkinson’s community.”

Find a movement disorders specialist in your area at Parkinson.org/Search or call the Parkinson's Foundation Helpline at 1.800.4PD.INFO (1-800-473-4636).

Parkinson’s disease (PD) is believed to be caused by a complex interaction of genetic and environmental factors. There is now mounting evidence that air pollution exposure is an emerging risk factor in the development of PD.

As the world's largest environmental risk factor for disease and premature death, air pollution has already been linked with heart disease, stroke, lung cancer, respiratory diseases and diabetes, as well as neurogenerative diseases such as Alzheimer’s and Autism Spectrum Disorder (Costa, Cole, Dao, Chang, & Garrick, 2019). However, it remains unclear whether environmental exposures such as air pollution increases the risk of developing PD or simply accelerates a disease process that is already present.

Outdoor air pollution is made up of tiny particles and liquid droplets, called particulate matter (PM) that contaminate the air we breathe. Primarily composed of gases (such as ozone, carbon monoxide, nitrogen dioxide, and sulfur dioxide), these pollutants can come from power plants, cars, trucks, buses, and burning fuels (such as coal, wood and heating oil) as well as from natural sources like forest and grass fires.

PM can range in size from 0.01 microns to 300 microns (a micron is one-millionth of a meter). Particulates less than 10 microns (referred to as “inhalable particles”) can get deep into our lungs and may enter the bloodstream. Particulates that are even smaller, measuring 2.5 microns or less, pose an even greater risk, as they not only enter the lungs, they also easily enter the bloodstream.

A 2022 comprehensive analysis published in the journal, Movement Disorders, “Air Pollution and the Risk of Parkinson's Disease: A Review” (Murata, Barnhill, & Bronstein, 2022) sought to explore several potential pathways by which air pollution may increase the risk of developing PD.

This type of investigation is complex. The authors outline several challenges related to studying environmental contributors of any neurodegenerative disease — including Parkinson’s disease (PD) — such as:

1. The lag time (sometimes decades) between a toxic exposure and the emergence of PD symptoms. For example, previous studies have shown that exposure to pesticides Paraquat and/or maneb increased PD risk decades after initial contact (Costello et al. 2009, Am J, Epidemiol, 169(8): 919-926).
2. Studies conducted using different methods, making them difficult to compare.
3. Some studies fail to account for factors known to be associated with PD risk, such as age, smoking history, pesticide exposure, and time between exposures and disease onset.
4. There are differences in what components of air pollution are measured, as well as the timing and methods used to determine exposure.

Nevertheless, as this field is in its early stages, research is valuable and necessary to further the process of scientific discovery. Thus, the authors thoroughly investigated English-language studies published regarding air pollution and neurodegeneration through June 1, 2021 — including epidemiological (the study of disease impact on a population), basic science studies and reviews.

Results

The authors concluded that air pollution is an emerging risk factor in the development of Parkinson’s disease. Researchers identified four pathways as to how air pollution may increase the risk of PD development:

1. Direct neurotoxicity and neuroinflammation: Components of air pollution reach the brain through the bloodstream and/or breathing through the nose. Once in the brain, air pollution can be neurotoxic (poisonous to the nervous system) and cause neuroinflammation, which can increase the accumulation of alpha-synuclein (a protein found in the brain that plays a key role in Parkinson’s) and decrease the number of dopaminergic neurons — both classic signs of PD pathology.
2. Air pollution – lung – brain connection: Exposure to air pollution can cause inflammation in the airway and lungs, which in turn can cause brain inflammation. This ultimately can lead to brain cell injury and death.
3. Air pollution and gut alpha synuclein: Air pollution causes gut inflammation and the local accumulation (clumping) of alpha synuclein. These abnormal alpha-synuclein can spread from the gastrointestinal tract (the gut) through the vagus nerve into the brain, leading to a loss of dopamine.
4. Air pollution – microbiome – brain pathway connection: Air pollution can alter the gut microbiome (trillions of microorganisms, such as bacteria, fungi and viruses that live in our gastrointestinal tract). This altered state may lead to inflammation of the brain. Though studies have found evidence of altered microbiota in people with PD, it remains to be seen whether this can indeed affect the development of PD.

What does this mean?

Air pollution is one of the main global health risks for many diseases. According to recent data, 92 percent of the world’s population lives in areas that exceeded the World Health Organization (WHO) guideline for healthy air.

This study described four overarching pathways as to how air pollution may increase the risk of Parkinson’s. In all cases, air pollution can contribute to the development of PD by directly or indirectly damaging the nervous system (neurotoxicity) and/or by an inflammatory response in the brain (neuroinflammation).

In other words, there is a clear association between air pollution and Parkinson’s disease – which is important as this knowledge could inform and impact environmental policies. However, whether air pollution directly causes Parkinson’s has yet to be determined. Similar to other experts in the field, the study authors suggest that a combination of environment and genetics are the cause of Parkinson’s. While most of us cannot control the air we breathe on a day-to-day basis, any time you can limit your exposure to outdoor air pollution is a good idea.

Learn More

The Parkinson’s Foundation believes in empowering the Parkinson’s community through education. Learn more about PD, air pollution and environmental toxins by viewing Environmental Factors and Genetics & Environmental Interactions, or by calling our free Helpline at 1-800-4PD-INFO (1-800-473-4636) for answers to your Parkinson’s questions.

There are more than 110,000 veterans living with Parkinson’s disease (PD). The Parkinson’s Foundation is interested in the differences between those who receive care at the Veteran’s Health Administration (VHA), a government organization within the Veteran’s Administration (VA) that provides primary and specialized healthcare to veterans of the U.S. military, and the veterans who receive care elsewhere.

A Parkinson’s Foundation survey sought to understand the health status, demographics, and health care utilization of veterans living with PD. The goal was to uncover differences between those who received care within the VHA versus those outside of the VHA.

In the U.S. today, there are more than 19 million veterans, yet less than half of these veterans receive care through the VHA. It is important to find out how care can be improved and in what areas care needs to be improved in order to provide the best possible care for veterans living with PD.

Survey Results

Demographics

The Parkinson’s Foundation distributed the survey to 1,532 veterans living with PD in July 2021 and analyzed 409 complete responses. Survey participant demographics include:

• Responses from 47 states
• Average respondent age was 74 years
• Average amount of time living with PD is 7 years
• Primarily white males with around 94% of respondents being white and 92% being male.
• Respondents were mainly retired (85%)

Health Service Utilization

Only one-fifth of participants reported receiving care from the VHA. Among those who utilized care from the VHA, 23% did not know that the VHA offered specialized care. Among all respondents:

• 77% reported seeing a neurologist specializing in PD
• 75% reported being given a referral for either physical therapy, occupational therapy, speech language pathology or mental health therapy from their PD provider
• Physical therapy was the most common referral (67%)

Mental Health

One in three respondents reported mental health concerns in the previous 12 months. Those receiving care at the VHA were more likely to report mental health concerns and were more likely to report poorer mental health, but were also more likely to talk about their mental health concerns with someone (a doctor, friend, family member, etc.).

Reported Falls

Among all respondents:

• One out of five reported falling frequently
• Two out of five reported having frequent near falls
• One-fifth of those who experienced one or more falls, did not report the fall(s) to anyone.

Learn More

The Parkinson’s Foundation believes in empowering the Parkinson’s community through education. Explore the below Parkinson’s Foundation resources for veterans and their loved ones:

• Veterans and Parkinson’s Disease
• Parkinson’s Foundation Surveys

Diversifying genetic data can help accelerate the pace of Parkinson’s disease (PD) research and get us closer to finding a cure. In our latest Neuro Talk, Parkinson's Foundation Associate Vice President of Research Programs Anna Naito, PhD, shares early results from PD GENEration: Mapping The Future of Parkinson’s Disease. Dr. Naito also highlights what the Parkinson’s Foundation is doing to reach new populations and to increase diversity in genetics research.

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

Movement disorder specialist and researcher Matthew Burns, MD, PhD, works to improve health outcomes for people with Parkinson’s disease (PD) from two distinct but complementary angles.

Dr. Burns diagnoses and treats patients with all forms of parkinsonism while pursuing lab research focused on the mechanisms of PD and its number one risk factor — the aging brain.

Dr. Burns’ patients at the Norman Fixel Center for Neurological Diseases at the University of Florida, a Parkinson’s Foundation Center of Excellence, benefit from innovative PD care, while the broader community benefits from his scholarly contributions to the field of neuroscience.

“It is an exciting time in neurology, compared to even a generation ago,” said Dr. Burns. “Across the spectrum, there is a greater appreciation that investment in research creates real, meaningful returns.”

The Parkinson’s Foundation has advanced the training of specialized Movement Disorders Specialists like Dr. Burns through the Movement Disorders Fellowship Program.

Awards are made to institutions to support two-year training of a fellow. Since the distribution of the first award in 1980, the Foundation has invested more than $15 million toward the training of more than 150 movement disorders neurologists.

Selected by the University of Florida as a recipient of this Fellowship in 2018-2020, Dr. Burns received training and mentorship on the complex motor and non-motor manifestations of Parkinson’s and other movement disorders.

Dr. Burns explained that most academic fellowships are 12 or 24 months, and that young researchers must complete clinical training, establish collaborations, technical expertise and gather preliminary data to get a grant that supports their research time by month 25. “If you miss this short window of opportunity as a young faculty member, even if you have a strong interest in research and are quite motivated, you have significant clinical obligations that make it very difficult to continue doing this kind of work,” Dr. Burns said.

“In contrast, my fellowship funded by the Parkinson’s Foundation and the supportive environment at University of Florida were both critical in garnering the necessary funding, resources and tools that set the stage for success,” said Dr. Burns.

Dr. Burns was initially inspired to pursue PD research and care during medical school, as he witnessed his parents’ close friends — Uncle Jim and Aunt Pat — struggle with complications of Jim’s PD.

“Uncle Jim was an accomplished trial attorney — public speaking and his public persona were very important to him; his memory was iron-clad. His debilitating non-motor symptoms like memory loss were a significant burden on him and Aunt Pat,” said Dr. Burns. “It had a real impact on me, and I realized how important it was for physicians and researchers to try to address not just the motor symptoms of PD, but also the non-motor symptoms.”

Dr. Burns’ research interests include investigating co-pathologies in PD, where other diseases intersect with PD and cause atypical, often non-motor, symptoms. He is also investigating the processes of aging. Dr. Burns recently received funding from the National Institute on Aging to advance understanding of the root processes that produce aging, and how aging affects cognition in PD.

“How the aging process interacts with disease, and produces the symptoms that we see in clinic, is not well understood at all. Additionally, aging affects performance at work, interactions with family, and quality of life. The research community has begun to focus on aging and particularly how to modulate this physiologic process to produce better health with advanced age and extend lifespan for humans.”

In the last several years, Dr. Burns has studied non-invasive forms of deep brain stimulation in rat models of PD with the potential capacity to slow or stop disease progression. “Really what is lacking in the field is disease modifying therapies, which get at the underlying causes of Parkinson’s. There are a whole host of technologies that have evolved in deep brain stimulation that hold some promise of doing just that,” Dr Burns said. “Early-stage clinical trials of such treatments in humans holds significant promise.”

Dr. Burns, who maintains his connection to the Parkinson’s Foundation as a speaker at educational events, credits the Foundation for being a comprehensive, reliable resource for his patients.

“The Parkinson’s Foundation offers a forum to ask questions, interact with others who are going through the same thing, and connect with physicians and institutions that are doing comprehensive care and translational research in this area,” Dr. Burns said. “The Foundation truly functions as the connective tissue for all these collaborations in the field, and that has a tremendous effect on my patient’s lives.”

Find a movement disorders specialist in your area at Parkinson.org/Search or call the Helpline at 1.800.4PD.INFO (1-800-473-4636).