Parkinson’s disease affects people of all races, ethnicities and genders as well as many age groups. However, while Parkinson’s affects people universally, it does not affect them all in the same ways. Each individual with PD presents a unique combination of symptoms, but we are also learning they present with a unique combination of biology as well.
MJFF’s mission is clear — a world without Parkinson’s disease. To do this we must find treatments that can prevent the onset of disease. But until we have a complete picture of the disease itself, we will be limited in our search for new therapies, and a cure. Diversity in science helps power some of the most important advancements made in Parkinson’s research and care alike — advancements that benefit every person with the disease.
Biological Differences in Parkinson’s Disease
In 2023, data from MJFF’s flagship Parkinson’s Progression Markers Initiative (PPMI) was used to validate a breakthrough test for underlying biology associated with Parkinson’s. The biomarker test, called the alpha-synuclein seeding amplification assay (SAA), detects a misfolded protein called alpha-synuclein that is closely associated with PD.
However, in the process of validating the test, researchers also solidified that not everyone with Parkinson’s shares this biology. Some people who are diagnosed with Parkinson’s do not have misfolded alpha-synuclein. Some people who are diagnosed with other neurodegenerative disorders (like Alzheimer’s) do have it.
The test opened many doors; for example, it will lead to quicker, more effective clinical trials, as participants can be selected based on having relevant biology. However, the test also revealed new information about the variety of combinations of genetic factors, biology and symptoms that make up Parkinson’s as we know it.
Comparing and contrasting the different genetic makeups, biological profiles and symptoms could reveal important differentiators that lead to new treatments and better care overall.
2023 marked an eventful year for PD research. In addition to the biomarker breakthrough, scientists discovered a new variant of the GBA gene linked to Parkinson’s. Much of the genetic research in Parkinson’s disease (like many other diseases) has focused on people of European ancestry, which left gaps in understanding that newly diversified research cohorts are upending. When researchers performed analysis of DNA from nearly 200,000 people of African descent, it revealed a specific genetic change that appears to increase the risk of Parkinson’s disease (PD). The newly identified GBA variant, which researchers found occurred in the African populations they studied but not in others, could help drive therapies for this underserved community.
The GBA study came from the Global Parkinson’s Genetics Program (GP2). The program is part of Aligning Science Across Parkinson’s, an initiative funded by the Sergey Brin Family Foundation and implemented by MJFF.
This finding from GP2 also contributes to broadening our understanding of Parkinson’s overall and its genetic links. In recent years, GBA has been an area of increased research and a promising target for therapies that could slow or stop disease progression.
Progress Through Studying Diverse Populations
Because of the clear benefits for everyone, The Michael J. Fox Foundation works diligently to ensure that underrepresented populations are included in clinical studies. MJFF collaborates with research centers, healthcare providers, and community organizations to raise awareness and recruit a more diverse group of participants in clinical trials.
For example, in the MJFF-sponsored PPMI study, recruiters emphasize the need for participants from various racial, ethnic, and socio-economic backgrounds. The study, which has 51 sites across 12 countries, aims to have at least 10% of the clinical participants come from underrepresented populations. By doing so, MJFF gathers a more accurate understanding of Parkinson’s in different populations, leading to insights that could result in more personalized and effective treatments.
Additionally, GP2, the study that led to the previously described GBA finding has assembled more than 140 cohorts from 58 global locations with the goal of collecting and genotyping more than 150,000 unique samples. This work was built on previous efforts from MJFF to expand global genetics studies, including early work in 2004 on the Edmond J. Safra Global Genetics Consortia.
GP2 provides the framework for building uniquely diverse cohorts for research. For example, it supports the Black and African American Connections to Parkinson's Disease (BLAAC PD) research study, which recruits individuals with Black and African ancestry from all over the United States to learn more about gene changes that may cause Parkinson’s. The study has recruited more than 600 participants across ten sites.
Ensuring that we can see which aspects of Parkinson’s cut across ethnic lines and which are unique to specific populations allows us to form a more complete picture of PD, including highlighting avenues for treatment.
Improving Access to Research and Care
Research is just one piece of the puzzle. MJFF recognizes the importance of addressing the health disparities that exist in Parkinson’s care as well. Studies have shown that minority and low-income communities may have less access to healthcare, leading to delayed diagnoses and worse outcomes for patients.
In research, MJFF supports patient engagement efforts both internally and with external partners, aiming to make patients aware of resources available to them. On the one hand, the Foundation supports tools like Fox Trial Finder, which connect people with research studies that are recruiting participants. On the other hand, MJFF also conducts research on the best ways to reach underserved communities, then shares findings with industry and academic partners to help their recruitment efforts.
The Foundation supports efforts to train additional movement disorders specialists, especially those working in traditionally underserved areas across the globe. MJFF marked ten years of the Edmond J. Safra Fellowship in Movement Disorders in 2024. The Fellowship is on track to train 73 new movement disorder specialists by 2028, with graduates reporting to MJFF that they average 800 patients per year. Surveys of the Fellows show 60 percent of them working with underserved populations.
The Michael J. Fox Foundation diligently considers diversity in its efforts to explore the biology of Parkinson’s, support the science that leads to new treatments and create a research and care landscape that works for everyone.
This commitment not only improves our understanding of Parkinson’s but also leads to better outcomes for all patients.