In early July, President Biden signed into law the<a href="https://www.instagram.com/p/C88OKGZNQwn/?igsh=MTc4MmM1YmI2Ng%3D%3D"> National Plan to End Parkinson&#8217;s Act</a>. This is a monumental step forward for the scientists at 23andMe and the millions living with Parkinson&#8217;s disease. Seeing this bipartisan legislation become law is heartening, as it will bolster efforts to find new treatments and ultimately cure Parkinson&#8217;s.



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="282" height="300" src="http://35.88.189.111/wp-content/uploads/2022/03/PD-Research-282x300.png" alt="" class="wp-image-29642" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/PD-Research-282x300.png 282w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/PD-Research-768x817.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/PD-Research-827x880.png 827w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/PD-Research.png 861w" sizes="auto, (max-width: 282px) 100vw, 282px" /></figure>



23andMe launched its <a href="https://www.23andme.com/pd/">Parkinson&#8217;s Research</a> effort 15 years ago, leveraging its unique research model to aid in the fight against this disease. For many of us, this research is personal—we have family members or loved ones living with Parkinson&#8217;s. Along with our ongoing research, 23andMe was the first direct-to-consumer genetic testing company to offer reports authorized by the FDA that estimated a person’s genetic likelihood of developing Parkinson’s disease.



We’ve continued that commitment to our customers and toward <a href="https://blog.23andme.com/articles/preliminary-results-from-the-parkinsons-impact-project-baseline-survey">important Parkinson’s research.</a> More than 37,000 people with Parkinson&#8217;s are part of our Parkinson&#8217;s Research community. That community and the millions of 23andMe customers who have consented to participate in our research make this work possible. Together, we&#8217;ve published over two dozen papers. Collaborating with the Michael J. Fox Foundation (MJFF) and the Parkinson&#8217;s Foundation, we are getting closer daily to our goal of ending Parkinson&#8217;s.



Modeled after the National Alzheimer&#8217;s Project Act (NAPA) of 2011, the new law will direct more attention and funding toward Parkinson&#8217;s research, just as NAPA did for Alzheimer&#8217;s. In the last year, two new treatments have been approved by the FDA to treat early Alzheimer&#8217;s, and there are now some new tests that help with earlier diagnosis of the disease. The hope is that the National Plan to End Parkinson&#8217;s Act will lead to similar breakthroughs for treating and diagnosing Parkinson&#8217;s disease.



We talked to a few of the 23andMe scientists working on Parkinson&#8217;s research to get their reaction to the new law and what it may mean for new treatments for Parkinson&#8217;s disease.



<h2 class="wp-block-heading" id="h-promising-new-research">Promising New Research</h2>



Hopefully, this new law will spur additional funding for Parkinson&#8217;s research. Looking at all the Parkinson&#8217;s research, including work by 23andMe researchers on topics such as<a href="https://academic.oup.com/brain/article/147/6/1996/7676517?login=false"> LRRK2 G2019S</a>, the<a href="https://blog.23andme.com/articles/parkinsons-disease-and-the-microbiome"> microbiome, and Parkinson&#8217;s</a> and <a href="https://blog.23andme.com/articles/large-study-on-parkinsons-disease-includes-understudied-populations">Parkinson&#8217;s in non-European populations</a>, what are you most excited about in current Parkinson&#8217;s research?



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="300" height="228" src="http://35.88.189.111/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-300x228.png" alt="Mapping of LRRK2 PD symptoms to areas of the brain." class="wp-image-32942" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-300x228.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-768x584.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-1024x779.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-880x670.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-1180x898.png 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain.png 1899w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



23andMe PD Research Team: The Parkinson’s research landscape is expanding into so many promising areas that choosing just one is difficult! A few of our top research priorities at this time include exploring Parkinson’s genetic insights into multi-ancestry populations, early Parkinson’s disease detection, and the importance of gut/saliva microbes. Scientists are developing accessible assays of alpha-synuclein—the protein that misfolds and is associated with the development of Parkinson’s—that will aid in early detection and spur further insights into disease progression. There is still so much work to do, and we are excited to contribute research in genetics, ancestry, and the microbiome to understand Parkinson’s biology and pathology further.



<h2 class="wp-block-heading" id="h-the-alzheimer-s-research-example">The Alzheimer&#8217;s Research Example</h2>



The new law was modeled after the National Alzheimer&#8217;s Project Act. What do you see as a parallel with Alzheimer&#8217;s research, and where does the comparison diverge?



23andMe PD Research Team: Both Alzheimer’s and Parkinson’s are neurodegenerative diseases that pose real challenges to the patients living with them, as well as to the researchers trying to find a breakthrough. Both diseases currently have treatments that primarily address symptoms rather than cure the disease, so both camps of researchers are actively looking for a breakthrough. The etiologic and clinical details can be different—for example, PD often begins with motor symptoms while AD’s early manifestations are more cognitive—but the commonalities in studying the two conditions are much more pronounced.



<h2 class="wp-block-heading" id="h-23andme-s-parkinson-research">23andMe&#8217;s Parkinson Research</h2>



23andMe has been studying Parkinson&#8217;s disease since 2009, and our findings have been published in more than two dozen papers. Is there a big takeaway from all that work and the ongoing work on Parkinson&#8217;s?



<figure class="wp-block-image alignright size-full"><img loading="lazy" decoding="async" width="332" height="332" src="http://35.88.189.111/wp-content/uploads/2019/02/BHM-Microscope-NoBack.png" alt="" class="wp-image-26906" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/02/BHM-Microscope-NoBack.png 332w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/02/BHM-Microscope-NoBack-150x150.png 150w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/02/BHM-Microscope-NoBack-300x300.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/02/BHM-Microscope-NoBack-271x271.png 271w" sizes="auto, (max-width: 332px) 100vw, 332px" /></figure>



23andMe PD Research Team: Before the 21st century, genetics were thought to have little to no influence on Parkinson’s disease. Thanks to the advent of sequencing technologies, we have learned a great deal about the genetic underpinnings of Parkinson’s. 23andMe has been an essential contributor to Parkinson’s genetics research due to our unique and large customer base that is highly engaged in research. The big takeaway from our science has been the identification of ~90 genes that are associated with the risk of Parkinson’s. With each decade that passes, we are learning more and more about how genetics influences Parkinson’s disease risk and symptoms. This knowledge is the foundation used to develop genetic testing and improve early detection of Parkinson’s disease, identify new drug targets, and develop new medications.



<h2 class="wp-block-heading" id="h-collaborations">Collaborations</h2>



For almost our entire Parkinson&#8217;s research program, 23andMe has collaborated with the Michael J. Fox Foundation and the Parkinson&#8217;s Foundation. We&#8217;ve also collaborated with some academic institutions and the NIH. Where are we most interested in collaborating on areas around Parkinson&#8217;s disease? Will we likely see access to this dataset expanded to more qualified researchers?



23andMe PD Research Team: Scientific collaboration is crucial to succeed in Parkinson’s research. We are interested in continuing our support and collaboration with ongoing studies, including The Michael J. Fox Foundation’s PPMI and The University of Rochester’s VALOR-PD studies. We are excited to contribute to Radboud University Medical Center’s Slow-SPEED study—the first-ever remote exercise intervention in prodromal Parkinson’s. We are also excited to explore the capabilities of wearable devices in detecting early Parkinson’s and cognitive games to monitor brain health over time. The 23andMe Research Team is committed to supporting researchers while protecting the privacy of our customers and research participants.



<h2 class="wp-block-heading" id="h-lrrk2-study">LRRK2 Study</h2>



Recently, 23andMe published findings focusing on those with the <a href="https://academic.oup.com/brain/article/147/6/1996/7676517?login=false">LRRK2 variant and Parkinson&#8217;s.</a> The study highlights how the disease affects people differently. What more can you say about LRRK2 and how the disease doesn&#8217;t necessarily affect all people similarly?



23andMe PD Research Team: We showed that the LRRK2 G2019S variant increases one’s risk of Parkinson’s. However, not everyone with the mutation will develop Parkinson’s. Furthermore, we saw that this increased risk was partly explained by other genes. The cumulative effect of these other genes, called a polygenic risk score, further explained this variability in Parkinson’s risk in LRRK2 G2019S carriers. Therefore, LRRK2 can affect people differently, and this has to do with both our background genetic makeup and our environment.



<h2 class="wp-block-heading" id="h-research-participants">Research Participants</h2>



All our work is possible because people with Parkinson&#8217;s have chosen to participate in this research. We also have about 12 million customers who&#8217;ve consented to participate in research. What would you like to say to those people with Parkinson&#8217;s who are research participants? What about those who do not have Parkinson&#8217;s? How is their participation helpful for what you do?



23andMe PD Research Team: We want to thank all of our customers for taking the time to participate in 23andMe research. Without you, progress in Parkinson’s research would not be possible. Genetic analyses require thousands of research participants to glean robust insights. We&#8217;re grateful to have such an engaged customer base committed to research. We want everyone to access, understand, and benefit from the human genome. This all starts with research.



<h2 class="wp-block-heading" id="h-motivation">Motivation</h2>



Many of us here at 23andMe have family members who are living with or lived with Parkinson&#8217;s disease. Does that help motivate you to do the research you are doing?



23andMe PD Research Team: Absolutely. One of our core values is ‘behind every data point is a human being.’ That comes naturally when so many of us have personal connections to PD. Research in service of better quality of life and treatment options for people just like our loved ones is our North Star.



<h2 class="wp-block-heading" id="h-the-value-of-knowing">The Value of Knowing</h2>



We also know 23andMe customers are interested in their Genetic Health Risk report on Parkinson’s Disease. Not everyone wants to learn this information. However for those who do, what do you see as the value of learning that you may have a genetic risk for Parkinson’s disease?&nbsp;



23andMe PD Research Team: The benefits for those who learn about their genetic risk can be tangible. Knowing genetic risk can lead to more proactive health monitoring and early detection. Also, individuals with a known genetic predisposition to PD may consider genetic counseling to understand the implications for their children and other family members. Finally, some individuals find value in being mentally and emotionally prepared for the possibility of developing Parkinson’s disease.

A New Era for Parkinson’s Research

Scientists at 23andMe, with support from The Michael J. Fox Foundation for Parkinson’s Research, have researched Parkinson&#8217;s disease and uncovered new insights into the natural history of the <a href="https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awae073/7676517">LRRK2 G2019S variant</a>. The findings, tracing back thousands of years, vividly illustrate how our DNA combines history, ancestry, and health. They remind us how important knowing one is for understanding the other.



<h2 class="wp-block-heading" id="h-your-genetic-ancestry-relates-to-health">Your Genetic Ancestry Relates to Health</h2>



While some of us use 23andMe to learn more about our health and others to learn about our ancestry, your DNA isn&#8217;t just about one thing or the other. Your DNA intricately weaves together not just your health and ancestry but much more, connecting you to the long thread of human history and offering insight into the origin of diseases like Parkinson&#8217;s.&nbsp;



The history of the LRRK2 G2019S variant and its geographical distribution in disparate communities are telling.



“The fact that the LRRK2 G2019S variant is found in North African Arabs, Ashkenazi Jews, Sephardic Jews, and populations in Latin America and the Caribbean tells a story of our shared genetic roots,” said Lucy Norcliffe-Kaufmann, Ph.D., Principal Scientist with 23andMe’s Parkinson’s Disease Research program.



<h2 class="wp-block-heading" id="h-the-founder-mutation">The Founder Mutation</h2>



Studying specific genes, like LRRK2, can teach us much. The LRRK2 variant—also known as the LRRK2 G2019S founder mutation—is strongly associated with a particular form of Parkinson&#8217;s disease, which we&#8217;ll briefly detail.&nbsp;



First, let&#8217;s explain a founder mutation. A founder mutation refers to genetic variants arising from a population&#8217;s loss of genetic variation. This happens when a distinctive population emerges from a small number of people isolated by geography or culture for a considerable time.&nbsp;



The isolation of small populations can result in a higher-than-average frequency for specific genetic variants within that population.&nbsp;



For example, over generations, the geographic isolation of Finnish people led to a founder mutation that puts them at a higher risk for a kidney condition known as <a href="https://rarediseases.info.nih.gov/diseases/1500/congenital-nephrotic-syndrome-finnish-type">congenital nephrotic syndrome</a>. The isolation of French Canadians in Quebec offers another example. That isolation led to a founder mutation in the BRCA1 and BRCA2 genes that puts them at higher risk for breast and ovarian cancer.&nbsp;



Some of the most well-known founder mutations are among people with Ashkenazi Jewish ancestry. Isolated over time by culture, religion, and, in some cases, geography led to higher incidences of specific genetic variants within Ashkenazi populations. These genetic variants put them at higher genetic risk for breast and ovarian cancer.&nbsp;



But people of Ashkenazi ancestry are also more likely to have the LRRK2 G2019S founder mutation that puts them at more risk for a specific type of Parkinson&#8217;s disease.



<h2 class="wp-block-heading" id="h-lrrk2-associated-parkinson-s">LRRK2-Associated Parkinson&#8217;s</h2>



Looking specifically at LRRK2 G2019S, the variant doesn&#8217;t just convey an increased risk for Parkinson&#8217;s. People who develop the disease who have the variant also have different types of symptoms than others with Parkinson&#8217;s but who do not have the LRRK2 variant.&nbsp;



23andMe researchers <a href="https://academic.oup.com/brain/article-lookup/doi/10.1093/brain/awae073">recently published data in </a>Brain, that looks at some of those differences.&nbsp;



People with LRRK2-associated Parkinson&#8217;s disease tend to have a slower progression of the disease, with symptoms more related to motor dysfunction. People with this LRRK2 variant also have lower rates of <a href="https://www.michaeljfox.org/news/ask-md-acting-out-dreams-and-parkinsons-disease">REM sleep behavior disorder</a> or RBD, which is a common symptom of Parkinson&#8217;s, particularly in the early stages. RBD includes sleep interrupted by acting out dreams and is much more common in people with idiopathic Parkinson&#8217;s disease, or Parkinson&#8217;s, in which the cause is unknown. 



<h2 class="wp-block-heading" id="h-different-types-of-symptoms">Different Types of Symptoms</h2>



Loss of smell, another common symptom of Parkinson&#8217;s, is also less common in those with the LRRK2 variant. This is important because when we look for people with early Parkinson’s disease, we ask about loss of smell and RBD to determine whether there are early signs of neurodegeneration in the brain. We might be underestimating the risk of Parkinson’s disease in someone with the LRRK2 variant because they are less likely to have sleep and smell problems.&nbsp;



In addition, people with LRRK2-associated Parkinson&#8217;s have fewer cognitive issues and seem to be at a lower risk for developing dementia. This suggests that the LRRK2 variant leads to a slowly primarily progressive motor form of Parkinson’s disease, in which the neurodegenerative process appears to be restricted to areas of the brain that control movement. The data suggests that in LRRK2 Parkinson’s disease, the areas outside the motor control regions are spared from the neurodegenerative process, so we see fewer autonomic, cognitive, sleep, and smell issues in carriers that develop the disease.&nbsp;



The researchers point out that it’s unusual to see a dominant mutation like LRRK2 so prevalent across different communities, but that may be partly because of the later onset of LRRK2-associated Parkinson’s. Symptoms tend to show when people are in their 60s and well past reproductive years.



“This explains why the variant can be harbored in a community and flourish in subsequent generations, particularly in communities that remain isolated by persecution or geography,” Lucy said.&nbsp;



These differences beg many questions, but they also offer potential avenues of inquiry that could give researchers insights into how to treat different types of Parkinson&#8217;s disease better. The majority of Parkinson’s cases do not have a known cause, but in the case of LRRK2, because the association is known, knowing that you have the variant sooner can lead to earlier treatment and better outcomes.



To develop new therapies, scientists need to learn more about who is at risk, why, and the earliest signs of the disease.



<h2 class="wp-block-heading" id="h-the-origins-of-lrrk2-variant">The Origins of LRRK2 Variant</h2>



Beyond that, tracing where and when the LRRK2 G2019S founder mutation originated offers other opportunities to find carriers in diverse populations and build community among those people.&nbsp;



Looking at the history of the LRRK2 founder mutation also offers insight into human migration and some of the people most impacted by it. One of the novel findings of this study is the identification of “hotspots” of people from Mexico, Cuba, Puerto Rico, and Brazil who carry the LRRK2 G2019S mutation at higher rates. This is interesting because it explains the migratory history of the populations most affected by this mutation.



Scientists believe the LRRK2 founder mutation originated over 5000 years ago among the Berber people of North Africa in what is now Morocco. Rates of LRRK2 are higher within North African populations, but why are there also higher incidences of people with LRRK2 within people of Ashkenazi Ancestry?



Why is LRRK2 also found in higher frequency in North Africa and parts of Spain, Eastern Europe, Cuba, and Puerto Rico? That latter finding for a higher frequency of people in the Latin Caribbean community with higher rates of this variant is a new finding from this research by 23andMe, and it begs the question of why we see those higher rates.



The answer lies in the unique history of people of Jewish ancestry, shaped by trade routes around the Mediterranean and historical events like the Muslim Arab expansion, the Crusades, the Inquisition, and the colonization and migration into the Americas.&nbsp;



<h2 class="wp-block-heading" id="h-tracing-lrrk2">Tracing LRRK2</h2>



Scientists believe the LRRK2 founder mutation originated in the Berber populations of North Africa and then passed through the Maghrebi into the Jewish communities that arrived there, having fled the Roman invasions of Jerusalem.



The Maghrebi were mostly traders connected to other Jewish communities by religion and trade routes that crisscrossed the Mediterranean. The Berbers and the new Jewish settlers lived side by side, and many Berbers converted to Judaism, which is likely how the LRRK2 G2019S variant moved from the Berbers to the North African Jews.&nbsp;



Some of those communities eventually migrated from North Africa to mainland Europe with the Arab invasions. Around 1,500 years ago, about eight percent of people living in Spain were of Jewish descent. Within a couple of hundred years, the Jewish population split, with the Ashkenazi group settling in Germany, France, and Eastern Europe and speaking Yiddish. Meanwhile, the Iberian-Arab Jews, later known as the Sephardic Jews, moved to and from North Africa to Spain and Portugal over the next hundreds of years.&nbsp;



While different significant historical events, such as Muslim Arab expansion and later the Crusades, influenced the movement of these people, we can already see that the LRRK2 G2019S variant was present in both the Ashkenazi and Sephardic Jews. The Ashkenazi Jews went through what we call a genetic bottleneck, which reduced the population pool to a small number of founders, some of whom carried the G2019S variant. This is how the carrier rate amplified as the small surviving population recovered and expanded over subsequent generations.&nbsp;



<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="512" height="252" src="http://35.88.189.111/wp-content/uploads/2024/05/LRRK2-Hotspots.jpg" alt="Heat maps of different areas in Latin America, and the Caribbean where there are hotspots for LRRK2." class="wp-image-32943" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/LRRK2-Hotspots.jpg 512w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/LRRK2-Hotspots-300x148.jpg 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>



<h2 class="wp-block-heading" id="h-the-new-world">The New World </h2>



By the time the Inquisitions arrived, many of what became the Sephardic Jewish community in Spain and Portugal were expelled or forced to convert to Catholicism. Their religion may have changed, but their genetics did not. Some forced converts fled to the Americas after 1492 as Spain conquered the New World. This is how the G2019S variant winds up in Latin America and Brazil.&nbsp;



Using data from 23andMe research participants who consented to participate in this research, 23andMe scientists plotted on a map where those with the LRRK2 variant trace their ancestry.&nbsp;



The maps note the fingerprints of that migration history with the highest concentrations for the mutation in people with genetic ancestry from North Africa, Eastern Europe, Puerto Rico, Cuba, and parts of South America.



“The fact that we see the LRRK2 G2019S variant signal in the Caribbean maps fits with the history of the Jewish Conquistadors who sailed with Columbus on his voyages to the New World,” said Lucy.&nbsp;



We also see strong signals in Brazil, one of the first South American countries to allow Jewish people to live and practice freely.&nbsp;



“(The finding) extends beyond the classic assumption that LRRK2 PD occurs in North African Berbers and the Ashkenazi Jews,” Lucy said. “It is an example of how mutations migrate and can spring up in new founding communities.”



<h2 class="wp-block-heading" id="h-23andme-s-ongoing-parkinson-s-research">23andMe&#8217;s Ongoing Parkinson&#8217;s Research</h2>



Understanding this history and the significance of a person&#8217;s ancestry related to the LRRK2 G2019S mutation and its link to a higher risk for Parkinson&#8217;s disease allows researchers to build awareness within these communities.&nbsp;



This, in turn, may help improve how we screen for the disease and how to build a broader community around this specific type of Parkinson&#8217;s disease.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="779" src="http://35.88.189.111/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-1024x779.png" alt="Mapping of LRRK2 PD symptoms to areas of the brain." class="wp-image-32942" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-1024x779.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-300x228.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-768x584.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-880x670.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-1180x898.png 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain.png 1899w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



The LRRK2 study, known as our Parkinson&#8217;s Impact Project, or PIP, has already produced tremendous insights into the disease. It helps scientists better understand the progression of Parkinson&#8217;s and how LRRK2 PD differs from idiopathic Parkinson&#8217;s, for which there is no known cause.&nbsp;



This study is just one of many aspects of 23andMe&#8217;s long-standing commitment to studying Parkinson&#8217;s, the second most common neurodegenerative condition behind Alzheimer&#8217;s disease.&nbsp;



23andMe researchers have studied the genetic underpinnings of Parkinson&#8217;s disease since 2009. More than 30,000 people with Parkinson&#8217;s have consented to participate in our research, and more than 196,000 people without Parkinson&#8217;s also participate in this specific research.&nbsp;



Those participants have helped 23andMe scientists and our collaborators complete work leading to more than 30 published papers, including 12 since 2020 alone. These studies have also identified almost 100 new genetic variants associated with Parkinson&#8217;s disease. It also allows 23andMe scientists and our collaborators to explore in much more detail the role these variants play in the progression of the disease.&nbsp;



The work on LRRK2 G2019S is part of that broader effort. The number of people with the LRRK2 mutation participating in 23andMe research is three times the size of the next largest LRRK2 research cohort. Some of those participating in 23andMe LRRK2 research have Parkinson&#8217;s, and others don&#8217;t.&nbsp;



As we learn more, we will share more about this study&#8217;s relevance to the disease progression and symptoms.&nbsp;



<h2 class="wp-block-heading" id="h-learn-more">Learn More</h2>



None of this work would be possible without those individuals. Those who consented to participate in 23andMe&#8217;s research included people with and without Parkinson&#8217;s disease.



Learn more about <a href="https://www.23andme.com/pd/">23andMe&#8217;s Parkinson&#8217;s disease research here</a>. 



<h2 class="wp-block-heading" id="h-the-23andme-s-parkinson-s-disease-genetic-health-risk-report">The 23andMe&#8217;s Parkinson’s Disease Genetic Health Risk Report</h2>



You can learn whether you may have an increased risk of developing Parkinson’s disease based on your genetics through the 23andMe Parkinson’s Disease Genetic Health Risk report.*



The report looks at two specific genetic variants associated with Parkinson’s disease, one in the LRRK2 gene and one in the GBA gene. This report is included in the <a href="https://www.23andme.com/dna-health-ancestry/">23andMe Health + Ancestry Service.</a>



<h2 class="wp-block-heading" id="h-note">Note</h2>



*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. The Parkinson’s Disease genetic health risk report is indicated for reporting of the G2019S variant in the LRRK2 gene, and the N370S variant in the GBA gene and describes if a person has variants associated with an increased risk of developing Parkinson’s disease. The variants included in this report are most common and best studied in people of European, Ashkenazi Jewish, and North African Berber descent.

The Natural History of a Genetic Variant Associated with Parkinson’s Disease

A new study that relied on data from more than four million 23andMe customers, may help speed efforts now underway to find drug targets for treating Parkinson&#8217;s disease.
<img loading="lazy" decoding="async" class="alignright wp-image-3133 size-full" src="http://35.88.189.111/wp-content/uploads/2009/03/parkinsonsdisease.jpg" alt="" width="260" height="236" />Working with researchers at 23andMe, scientists at the Broad Institute of MIT and Harvard, were able to identify a very rare group of individuals who have what are called &#8220;loss of function&#8221; alleles in the gene LRRK2. These 1,400 individuals also do not appear any more or less healthy than those without the loss of function alleles, even though the alleles have essentially turned off the function of one of their LRRK2 genes.
This finding, published in the journal <a href="https://www.nature.com/articles/s41591-020-0893-5">Nature Medicine</a>, gives drug hunters looking for new treatments more evidence that they may be able to safely target that gene, which is the most common genetic cause for Parkinson&#8217;s.

<h6>Collaborating and Leveraging Data</h6>
The paper was one of <a href="https://www.broadinstitute.org/node/629796">seven published </a>by the researchers using data from Broad&#8217;s <a href="https://www.nature.com/immersive/d42859-020-00002-x/index.html">Genome Aggregation Database</a> (gnomAD), which brings together exome and sequence data from many sources for researchers. Leveraging that data, the researchers looked not just at Parkinson’s disease, but also developed a catalog of human variation, insights into population genetics, disease association, and diagnostic screening.
A grant from the <a href="https://www.michaeljfox.org/">Michael J. Fox Foundation</a> helped pay for the work on the LRRK2 paper, which included essential contributions from scientists at Imperial College London, and the Icahn School of Medicine at Mount Sinai. The study also included data from the <a href="https://www.ukbiobank.ac.uk/">UK Biobank</a> and Broad&#8217;s gnomAD.
&#8220;The study is another illustration of the immense value of 23andMe&#8217;s data,&#8221; said Paul Cannon Ph.D., 23andMe&#8217;s Parkinson&#8217;s disease research manager. &#8220;Having this very large genetically and phenotypically characterized cohort offers novel opportunities to look for evidence of any potential safety concerns for drugs for targets like these, which individuals at risk of developing Parkinson’s, may end up taking chronically, perhaps for decades .&#8221;
<h6>Looking at LRRK2</h6>
As part of their work, the researchers were also able to confirm many known loss of function variants in the LRRK2 gene, which are extremely rare. But the researchers also found that about 1,400 individuals in the 23andMe database carried one of three loss of function variants. The 23andMe data includes extensive health as well as other <a href="https://www.23andme.com/research/" target="_blank" rel="noopener">phenotypic information</a>. This allowed researchers to determine that those individuals did not appear to be suffering health effects from that loss of function.
In most cases, the cause of Parkinson&#8217;s disease is unknown. There is a complex mix of genetic and environmental factors at play that lead to the development of the disease. But in the last decade, researchers have identified variants in a handful of genes, including <a href="https://ghr.nlm.nih.gov/gene/LRRK2#normalfunction">LRRK2</a>, associated with developing Parkinson&#8217;s disease. In the case of LRRK2 a variant in the gene is associated with the overproduction of certain proteins in the brain. Scientists have long believed that one avenue for treating the disease may lie in modifying, or &#8220;down-regulating&#8221; the function of the LRRK2 gene. Still, they want to better understand whether that can be done safely.
&#8220;These results suggest that drugs that reduce LRRK2 kinase activity are unlikely to show toxicity due to on-target effects,&#8221; the researchers state in the paper.

Large Study Offers Insight into Parkinson’s

Editor&#8217;s note: This opinion first appeared in the Lafayette Journal &amp; Courier newspaper. We&#8217;re reprinting with permission from the author.
<div id="attachment_27478" style="width: 279px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-27478" class="wp-image-27478 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2019/09/Kelly-Evans-and-Reni-Winter-Evans-Poked-for-a-PD-Cure-269x300.jpeg" alt="Reni Winter Evans" width="269" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/09/Kelly-Evans-and-Reni-Winter-Evans-Poked-for-a-PD-Cure-269x300.jpeg 269w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/09/Kelly-Evans-and-Reni-Winter-Evans-Poked-for-a-PD-Cure.jpeg 402w" sizes="auto, (max-width: 269px) 100vw, 269px" />Reni, right, and her husband Kelly.</div>
By Reni Winter-Evans, LSW 

I used to think only research scientists could make an impact on medical science, and the rest of us had to just wait for each new treatment and cure without any input.
Like you, I’ve watched helplessly as people I care about die from incurable diseases. Maybe it was a close friend, a parent, a sibling, a spouse or even tragic — a child or infant.
Or perhaps like me, you’ve suddenly found yourself in the crosshairs of a tough diagnosis, one with no known cure.
<h6>I&#8217;m Not A Scientist</h6>
If I were a scientist, I’d be busy in my lab 24-7, doing everything possible to find a cure for the disease that has already destroyed about half of the dopamine neurons in my brain. Loss of dopamine, a neurotransmitter that sends signals to other nerve cells to control large and small muscles throughout the body, as well as mood and other functions, is the start of a handful of Parkinsonism diseases.
But I don’t have what it takes to be a scientist. I’m am a 64-year-old grandma, blogger and former journalist, now a licensed social worker. After 18 months on a hospice team, I work as a community health therapist — a far cry from medical research.
<h6>Sign Me Up</h6>
But I discovered last year I, and you, do have something vital to offer to help find new treatments and cures for Parkinson’s and other diseases: our DNA.
DNA is the unique building block of our cells. After DNA testing with 23andMe, I learned I have a rare genetic mutation that, coupled with my Ashkenazi Jewish and North African Berber ancestry, puts me at a higher risk for Parkinson’s disease. The mutation, <a href="https://blog.23andme.com/news/new-study-suggests-lrrk2-g2019s-mutation-carriers-are-more-likely-to-have-postural-instability-and-gait-difficulty-type-of-parkinsons-disease/">LRRK2 G2019s</a>, is of great interest to researchers working on slowing or stopping the rising tide of Parkinson&#8217;s disease around the world. Scientists desperately need people like me with this LRRK2 mutation for research trials — many funded by the <a href="https://www.michaeljfox.org/">Michael J. Fox Foundation.</a>
What? Research scientists need something I’ve got that may cure Parkinson’s? I couldn’t sign up fast enough!
<h6>A Sense of Duty</h6>
In the past year, I’ve joined almost a dozen observational trials, with more to follow. And they don’t just need people with certain mutations, but also those without to function as “controls” for the studies. Almost anyone can step up to help.
So, we don’t need a PhD, medical degree or even a rare mutation to help with medical research. All we have to do is find a trial we like and enroll. Some can even be done online! So far, I’ve enrolled in the 13-year long <a href="https://www.ppmi-info.org/">Parkinson’s Progression Markers Initiative</a> (PPMI), the <a href="https://www.brainhealthregistry.org/">Healthy Brain Registry</a>, <a href="https://foxinsight.michaeljfox.org/">Fox Insight</a>,  and others. You can find research trials in numerous ways: at <a href="https://foxtrialfinder.michaeljfox.org/">Fox TrialFinder</a>, at <a href="https://www.nih.gov/health-information/nih-clinical-research-trials-you/finding-clinical-trial">The National Institutes of Health</a> site, or at a research hospital near you. 23andMe invites customers to <a href="https://www.23andme.com/research/">participate</a> in their company’s research as well.
I do it because I feel a strong sense of duty to help in any way possible to provide a disease-free future for myself, my offspring and everyone else. My focus is Parkinson’s, but active research is ongoing for cancer, multiple sclerosis, <a href="https://www.23andme.com/topics/health-predispositions/late-onset-alzheimers/">Alzheimer</a>’s, and myriad other diseases and all need willing participants. Sadly, countless valuable and well-researched studies have failed partway through for lack of study participants.
<h6>Participating is Easy</h6>
Remember, only clinical trials involve experimental drugs and procedures. There are plenty of observational trials in which researchers either look at data already gathered from DNA or perform other non-invasive tests on live participants.
One person’s DNA, when studied together with the DNA of thousands, or even millions of others, could lead to a cure or treatment. The higher the number of participants, the more accurate the results and the sooner they can be scientifically validated. Whether we have a diagnosis or mutation or not, we each have the potential to make a big difference by providing enough test subjects to prove a theory and find a cure.
It’s challenging enough finding enough people with a disease to participate. Most cancer trials don’t meet their enrollment targets. One estimate shows less than three-percent of cancer patients participate in trials. Finding “healthy controls” — people without a condition but who are willing to participate, like my husband — is even harder.
Many don’t understand what’s involved, and don’t take time to learn more. Scrambling to find participants lengthens the time it takes to develop a drug or procedure. It might sound scary to sign up for a clinical trial, but remember, every successful treatment prescribed today went through a trial phase. Those treatments wouldn’t be available if courageous people hadn’t stepped up and volunteered.
I decided to be one of those people, recalling the words of Hillel the Elder, an ancient Jewish religious leader: “If not me, then who? If not now, then when?”
I’ve made my decision. What about you?
Reni Winter-Evans, a former journalist now working as a licensed social worker, lives in West Point, Indiana and participates in 23andMe research.

I’m Stepping Up for a Cure, Will You?

April is Parkinson’s Awareness Month and this year it also marks the eighth anniversary of 23andMe’s <a href="https://www.23andme.com/pd/">Parkinson’s Research Community</a>, <a href="https://www.23andme.com/pd/"> 
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-22635" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg" alt="Brain Logo" width="287" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg 287w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/06/Brain-Logo.jpg 438w" sizes="auto, (max-width: 287px) 100vw, 287px" /></a>which introduced a game-changing model for science, one that leverages online tools and is powered by average, everyday people — people like you.


Parkinson’s Awareness Month also comes on the heels of an <a href="https://blog.23andme.com/news/good-news-health-reports/">FDA authorization</a> for 23andMe to offer several Genetic Health Risk Reports to customers, including one on genetic risk for Parkinson’s Disease. Genetics is one of many factors that influence a person’s chance for developing Parkinson’s disease. 23andMe’s new Parkinson’s Disease Genetic Health Risk Report looks at two of the most common variants associated with significantly higher risk for the disease LRRK2 G2019S, and GBA N370S. 


Putting this information into the hands of individuals is important for them personally, but it can do so much more. It can trigger the sort of engagement that powers important research as 23andMe has seen with the Parkinson’s Research Community, which now includes more than 11,000 people and is the world’s largest study cohort of genotyped individuals with Parkinson’s. 


The community has powered important research from the beginning, first helping to replicate known genetic associations for Parkinson’s and then leading researchers to find never before known associations. Beyond that work 23andMe has also joined in hugely important ongoing collaborations — with organizations like the <a href="https://www.michaeljfox.org/">Michael J. Fox Foundation</a> — which are helping lead to important insights and valuable data for future research. 
Right now 23andMe is working on a new research effort with The Michael J. Fox Foundation (MJFF), and we expect to announce more details about the program later this year. In the meantime, we strongly encourage people interested in supporting or participating in Parkinson’s research to learn more about the MJFF’s <a href="https://foxinsight.michaeljfox.org/">Fox Insight</a> program. 


For people with Parkinson’s or those who love them, the research done through the 23andMe Parkinson’s Research Community and its collaborators offers something else — a chance to make a difference. This is a true human desire. Not all of us have the resources or skills to do the science, but we all have the ability to offer what may be even more valuable, our interest and participation. As Thelma, the wife of one of our research participants, told us a few years ago, participating in research offered her a chance to make a difference.


“I have six grandchildren … and I don’t want (Parkinson’s) to befall them,” she said. “This is something I can do for them as well.”


Engaging people like Thelma is part of what 23andMe does well, but we offer something else too. 
Even individuals who do not have a specific condition, who are healthy and are not personally touched by some of the health conditions we study, can help by simply consenting to research. Having aggregated data from healthy individuals for which to compare is important for disease research. 
In addition, some individuals who remain healthy their whole lives, even though they have the variants that put them at a higher risk, could also offer researchers valuable information in their study of Parkinson’s and other neurodegenerative diseases. In fact, some scientists are starting to hypothesize that developing interventions before someone is symptomatic could be key to prevention or more effective treatment for some neurodegenerative diseases. 
One powerful way to study this hypothesis is to identify people with specific risk factors &#8211; like genetics &#8211; to focus on in future studies. 
The ability for people to participate in research and become engaged in this kind of work is game changing, said 23andMe co-founder and CEO Anne Wojcicki.

&#8220;What gets me up every day is the excitement of our potential for research and the opportunity to advance science and understanding of the underlying biology of conditions like Parkinson’s disease,&#8221; she said.  
<img loading="lazy" decoding="async" class="aligncenter size-large wp-image-22634" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/Parkinsons-Research-Community-640x238.jpg" alt="Parkinson's Research Community" width="640" height="238" />

Parkinson’s Awareness Month

<div id="attachment_23228" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23228" class="wp-image-23228 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/11/MJFF-photo-1-e1447799948582-300x254.jpg" alt="MJFF photo" width="300" height="254" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/11/MJFF-photo-1-e1447799948582-300x254.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/11/MJFF-photo-1-e1447799948582.jpg 483w" sizes="auto, (max-width: 300px) 100vw, 300px" />The panel discussing Parkinson&#8217;s Progression Marker Initiative at the MJFF&#8217;s Parkinson&#8217;s Disease Therapeutics Conference in New York.</div>
From implanting cells into the brain to prevent the loss of dopamine producing nerve cells, to placing light sensitive channels in nerve cells to better treat the symptoms of Parkinson’s disease, researchers are pushing into new realms in the fight against the disease.


At the ninth annual<a href="https://www.michaeljfox.org/research/parkinsons-therapeutics-conference.html"> Michael J. Fox Foundation Parkinson’s </a><a href="https://www.michaeljfox.org/research/parkinsons-therapeutics-conference.html">Therapeutics Conference</a> in New York City earlier this month, more than 300 gathered to learn about a wide range of new experimental treatments and therapies.
Always groundbreaking, this year’s conference didn’t disappoint, and offered attendees much to be optimistic about. 23andMe’s Paul Cannon, Ph.D., who manages our<a href="https://www.23andme.com/pd/"> Parkinson’s Research Community</a>, was there along with Linda Yu, Ph.D., a project manager in business development here, and other business leaders, researchers and scientists.
“This was my second year attending the conference and I continue to be impressed by what I see,&#8221; said Paul. &#8220;It&#8217;s also a great opportunity to meet with like-minded researchers all interested in one thing – finding new breakthroughs in the fight against Parkinson’s.”
<div id="attachment_22380" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22380" class="size-medium wp-image-22380" src="https://blog-api.23andme.com/wp-content/uploads/2015/03/paul-300x235.jpg" alt="Paul Cannon, 23andMe's Parkinson's Research Community manager." width="300" height="235" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/paul-300x235.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/paul-768x602.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/paul-1024x802.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/paul-880x689.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/paul-1180x924.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/paul.jpg 2016w" sizes="auto, (max-width: 300px) 100vw, 300px" />Paul Cannon, Ph.D., 23andMe&#8217;s Parkinson&#8217;s Research Community manager.</div>
Bringing together the foundation’s partners and grantees, the annual conference is meant to offer a snapshot of the state of the science around the study of Parkinson’s and its treatments. The daylong conference is broken into sessions that focus on treatments that can modify the progression of the disease, or those that treat the symptoms, as well as sessions that focus on what’s on the horizon, and new tools that can be used in Parkinson’s research.


There was a lot packed into one day, but Paul singled out a few presentations that he found particularly interesting.
The first is a treatment that is now in the preclinical phase, a first step in the process of drug development. The treatment involves an innovative technique that implants cells into the brain. Those cells are engineered to express<a href="https://www.wikigenes.org/e/gene/e/2668.html"> glial derived neurotrophic factor</a> (GDNF), a protein that could help prevent or even reverse the loss of dopamine producing neurons due to Parkinson’s. Dopamine acts as a neurotransmitter in the brain and helps individuals regulate their movements, their body and emotions even. There is still much to be done, and an important next step in the process is a planned clinical study next year, the purpose of which is to make sure that this therapy can be safely administered to patients.


Paul was also struck by the unusual cooperation between three competing drug companies and The Michael J. Fox Foundation. The companies – Genentech, Pfizer and Merck – are all developing inhibitors of the LRRK2 kinase, the product of the well-known LRRK2 gene, mutations in which cause Parkinson’s disease in some individuals. An exciting feature of this approach is that it may also help all Parkinson’s patients, not just those with the deleterious LRRK2 mutations. The consortium members, led by the foundation, are sharing their compounds and data to work through safety concerns and understand the potential impact of this approach on lung function, which was discovered during animal models.
“This is a cool and rare example of cross-company collaboration,” said Paul. “The Michael J. Fox Foundation did well to pull it off.”
<div id="attachment_23232" style="width: 234px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23232" class="size-medium wp-image-23232" src="https://blog-api.23andme.com/wp-content/uploads/2015/11/2014-09-14-15.21.36-224x300.jpg" alt="Linda Yu, Ph.D., a 23andMe project manager in business development." width="224" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/11/2014-09-14-15.21.36-224x300.jpg 224w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/11/2014-09-14-15.21.36-768x1028.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/11/2014-09-14-15.21.36-765x1024.jpg 765w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/11/2014-09-14-15.21.36-657x880.jpg 657w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/11/2014-09-14-15.21.36-881x1180.jpg 881w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/11/2014-09-14-15.21.36-scaled.jpg 1912w" sizes="auto, (max-width: 224px) 100vw, 224px" />Linda Yu, Ph.D., a 23andMe project manager in business development.</div>
There were many other interesting new therapies, such as the use of optogenetics in the treatment of Parkinson’s symptoms. This involves placing light sensitive channels in nerve cells and then stimulating them with light to open or close those channels as a way to treat certain symptoms of the disease. Paul said there were also many updates on other treatments in development for Parkinson’s including better techniques for administering the drug Levodopa in order to minimize the development of drug induced <a href="https://www.michaeljfox.org/understanding-parkinsons/living-with-pd/topic.php?dyskinesia">dyskinesias</a> (abnormal involuntary movements).


Beyond drug development the conference also included presentations on new ways to detect Parkinson’s and monitor its progression, as well as interesting new uses for smartphones. Dr. Ray Dorsey, a researcher at the University of Rochester who has worked with 23andMe as a member of our Parkinson&#8217;s Research Scientific Advisory Board, spoke about the potential of using smartphones as an unobtrusive way to monitor the symptoms and progression of Parkinson’s in patients. Motion sensors in the phones apps that can measure changes in changes in gait, or voice monitors that can measure changes in the tone of voice, are likely to be the next big tool for those treating people with Parkinson’s. Working with researchers at Harvard and the company Sage Bionet, researchers have already developed two applications that leverage smartphone technology. This is also helping researchers who are collecting survey data and gathering patient feedback.
“It’s a fascinating area,” said Paul “The key is to collect data with a view to the questions you are trying to address otherwise drowning in data is a real possibility.”

What’s New In Parkinson’s Research

A team of researchers has developed a simple and non-invasive approach that uses genetic data in combination with other demographic and biomarker information to <img loading="lazy" decoding="async" class="alignright wp-image-22635 size-medium" src="http://35.88.189.111/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg" alt="" width="287" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg 287w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/06/Brain-Logo.jpg 438w" sizes="auto, (max-width: 287px) 100vw, 287px" />accurately distinguish those with and without Parkinson’s disease, an illness that is notoriously difficult to detect.
<h6>New Predictive Model</h6>
In a study published this week in the journal <a href="https://www.thelancet.com/journals/laneur/article/PIIS1474-4422%2815%2900178-7/fulltext">Lancet Neurology</a>, the group detailed their findings showing how they used a small set of key data points to discern individuals with Parkinson’s from those who do not have the disease. The predictive model offers hope for earlier detection and diagnosis for the disease, according to the study.
“Accurate diagnosis and early detection of complex diseases, such as Parkinson’s, has the potential to be of great benefit for researchers and clinical practice,” the authors said.
<h6>Early Diagnosis is Important</h6>
Simply making a correct diagnosis of a progressive neurodegenerative disease like Parkinson’s can be very difficult, and take time. It’s often misdiagnosed and the result is that many patients do not get early treatment. Although there is not currently a cure for Parkinson’s, existing treatments have been able to significantly mitigate symptoms, and new treatments being tested now may help slow the progression of the disease. The earlier those treatments can begin, the better the prognosis. That makes early diagnosis that much more important. There currently is no cure for Parkinson&#8217;s so treatment has focused on slowing the progression of the disease and mitigating the symptoms.
&#8220;The model could have immediate application in helping refine cohorts used in clinical research,” said Paul Cannon, 23andMe’s Parkinson’s Research community manager. “With more data and further refinement, it may be able to contribute to better diagnosis of individuals with Parkinson-like symptoms and the identification of prodromal (pre-symptomatic) and &#8220;at risk&#8221; populations, which will be critical for the development of disease modifying therapies.&#8221;
<div id="attachment_22380" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22380" class="wp-image-22380 size-medium" src="http://35.88.189.111/wp-content/uploads/2015/03/paul-300x235.jpg" alt="" width="300" height="235" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/paul-300x235.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/paul-768x602.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/paul-1024x802.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/paul-880x689.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/paul-1180x924.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/paul.jpg 2016w" sizes="auto, (max-width: 300px) 100vw, 300px" />Paul Cannon, 23andMe&#8217;s Parkinson&#8217;s Research Community manager.</div>
<h6>Multiple Inputs</h6>
This paper shows that a model, which combines genetic risk score, demographic and biomarker data, can more accurately discriminate individuals with Parkinson’s from healthy controls as compared to genetics alone. That is partly what makes this study so interesting.
Lead by scientists with the National Institutes of Health, the researchers tested their model against a group of more than 1000 individuals, some with Parkinson’s and some without the disease. Researchers from 23andMe, the Michael J. Fox Foundation, the University of Pennsylvania and the University of Rochester Medical Center also participated in the work.
The researchers also tested their model against another set of patients who had had image scans of their brain. This is referred to as Scans Without Evidence of Dopaminergic Deficit, or SWEDD. The model classified 17 patients as having Parkinson’s and within the first year, four of them developed the disease. Only one of the 38 patients the model classified as not having Parkinson’s developed the disease in the same time frame.
<h6>23andMe&#8217;s Parkinson&#8217;s Research Community</h6>
The model includes genetic risks, family history, age, and gender. It also includes some biomarkers such as the ability to detect certain smells into account in diagnosing Parkinson’s. The information used in the model can be gathered remotely. That means participants do not have to visit a medical center, patients can send in saliva for genetic testing. They can then answer online surveys regarding family history, the study authors said.
After they created an algorithm using this information, the scientists then tested it. They used data on individuals from five different study groups, including 23andMe’s Parkinson’s Research Community. What they found was that in each case their method had a very high accuracy rate for predicting Parkinson&#8217;s. The model accurately classified Parkinson’s in patients more than 90 percent of the time. The model also did well classifying different Parkinson’s subtypes.
The researcher used many methods of validating the results. Those include using data from 23andMe’s LRRK2 biomarker cohort, and the data from the Parkinson’s Progression Marker Initiative.
The researchers found not only a new highly accurate method of diagnosing Parkinson’s, but also one that significantly outperformed any single-classifier method of diagnosing.
The study authors believe that with further refinement the tool may be useful for screening and diagnosing. It may also help in differentiating Parkinson’s disease from other neurological conditions. <img loading="lazy" decoding="async" class="aligncenter wp-image-22634 size-large" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/Parkinsons-Research-Community-640x238.jpg" alt="Parkinson's Research Community" width="640" height="238" />

A New Model for Discerning Parkinson’s

We&#8217;re re-posting <a href="https://www.michaeljfox.org/foundation/news-detail.php?and-with-23andme-parkinson-community-lead" target="_blank" rel="noopener noreferrer">an interview</a> that the Michael J. Fox Foundation did with our very own Paul Cannon, PhD, 23andMe&#8217;s Parkinson&#8217;s Research Community manager. April is Parkinson&#8217;s Awareness Month and this is a nice way to kick it off. <img loading="lazy" decoding="async" class="alignright size-medium wp-image-22379" src="https://blog-api.23andme.com/wp-content/uploads/2015/03/paul_bw-200x300.jpg" alt="paul_bw" width="200" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/paul_bw-200x300.jpg 200w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/paul_bw-768x1152.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/paul_bw-683x1024.jpg 683w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/paul_bw-587x880.jpg 587w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/paul_bw-787x1180.jpg 787w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/paul_bw-scaled.jpg 1707w" sizes="auto, (max-width: 200px) 100vw, 200px" />
Genetic testing company 23andMe made headlines recently with announcements first of a deal with pharmaceutical company Genentech and then of its own new Therapeutics Group.
The Michael J. Fox Foundation has a long-standing relationship with 23andMe, helping recruit members for its <a href="https://www.23andme.com/pd/" target="_blank" rel="noopener noreferrer">Parkinson’s Community</a> study and collaborating on research projects such as our <a href="https://www.michaeljfox.org/page.html?lrrk2-cohort-consortium" target="_blank" rel="noopener noreferrer">LRRK2 Cohort Consortium</a>.
Paul Cannon, PhD, who leads the 23andMe Parkinson’s Community, spoke with us about the company’s recent news and what it means for Parkinson’s disease (PD) drug development.
<h6>MJFF: What can you tell us about the 23andMe partnership with Genentech?</h6>
Paul Cannon: The deal with Genentech is a collaboration to whole genome sequence approximately 3,000 individuals with Parkinson’s or with a first-degree relative with PD. (The ratio is yet to be determined.) It’s a unique opportunity to learn more about the genetics of people with Parkinson’s disease and hopefully identify novel targets and biological pathways. 

<h6>MJFF: How can genomic sequencing lead to new targets and treatments?</h6>
PC: It’s obviously the start of a long process, but one of the principle aims is to discover new therapeutic targets for Parkinson’s disease and specifically for disease-modifying therapies. There are a number of interesting therapies in development, but we need more shots on goal.
Through whole genome sequencing, we’ll look for genetic variants such as small deletions or insertions that are difficult to detect with our present mapping-based approach. It’s a more thorough interrogation of the genome made feasible by the decreased cost of whole genome sequencing and the analysis methods that have come along hand-in-hand.
<h6>MJFF: What is the difference between genomic sequencing and what you get from the 23andMe spit test?</h6>
PC: In whole genome sequencing you’re interrogating the majority of a person’s genome [complete DNA sequence]: every position of the approximately 3 billion base pairs that we have in our genome. The single nucleotide polymorphism [SNP pronounced SNIP] genotyping that 23andMe traditionally uses currently interrogates around 650,000 markers on the genome. Those are the mileposts, where sequencing looks at every section of the road.
<h6>MJFF: How can people with Parkinson’s disease get involved?</h6>
PC: For this study, we’ll be recruiting from the existing 23andMe Parkinson’s Community. We’re defining the genetic and clinical profiles that will give us the highest chance of success, and those individuals will be invited from the existing database. 
That said, we encourage those not yet in the 23andMe Parkinson’s Community to join us. There will definitely be future projects; this won’t be our only effort.
<h6>
MJFF: Speaking of other efforts, 23andMe recently launched its own Therapeutics Group. What can you tell us about the aims there?</h6>
PC: It’s very exciting to have the opportunity to work with an in-house team that is focused on development of therapeutics. We’ve obviously worked with commercial partners on drug discovery, and we’ll continue to do so. I’m hoping to work with them on potential projects for Parkinson’s research, but that’s still to be determined. 
I can’t speak for them, but they’ll mine interesting data, presumably, and look for opportunities that pop out across the broad spectrum of diseases represented in 23andMe. They’re using human genetics to drive therapeutic discovery and to improve development of drugs by matching patients with the right drugs through the use of genetics.
<h6>MJFF: Thanks for your time, Paul. Anything else you want our audience to know?</h6>
PC: My pleasure. As a last note, I’d just say that we continue to look to work with partners across the Parkinson’s disease research community. There are opportunities for other collaborations and projects, and we’ll work together to continue to push forward Parkinson’s research, ultimately for a cure. 
Learn more about the 23andMe Parkinson’s Community.

An Interview With Paul Cannon

This post comes to us from our friends at the <img loading="lazy" decoding="async" class="alignright size-medium wp-image-20765" src="https://blog-api.23andme.com/wp-content/uploads/2014/04/pd-graphic-300x300.jpg" alt="pd-graphic" width="300" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/04/pd-graphic-300x300.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/04/pd-graphic-150x150.jpg 150w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/04/pd-graphic-271x271.jpg 271w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/04/pd-graphic-372x372.jpg 372w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/04/pd-graphic.jpg 400w" sizes="auto, (max-width: 300px) 100vw, 300px" />customers and research participants the opportunity to access their information if they want it. This post from the Michael J. Fox Foundation attempts to cover the different approaches to informing participants about their results. 
Researchers need to know if study participants have certain genetic mutations to understand how those lead to disease. But do the participants have to know if they have a mutation?
Parkinson’s disease (PD) researchers <a href="https://www.nature.com/gim/journal/v16/n8/full/gim201455a.html" target="_blank" rel="noopener noreferrer">published last month</a> in Genetics of Medicine the different answers to that question among sites investigating <a href="https://www.michaeljfox.org/understanding-parkinsons/living-with-pd/topic.php?lrrk2">mutations in the LRRK2 gene</a>, the greatest known genetic contributor to PD.
Investigators from The Michael J. Fox Foundation-sponsored <a href="https://www.michaeljfox.org/page.html?lrrk2-cohort-consortium">LRRK2 Cohort Consortium</a> authored the letter to the editor. The consortium unites research groups from nine countries on four continents to learn more about LRRK2 and speed collective efforts closer to practical therapies for patients.
In general, mutations in the LRRK2 gene account for less than five percent of PD cases, but that number jumps in certain ethnic populations; LRRK2 mutations are associated with 18 to 40 percent of PD cases among those of Ashkenazi Jewish or North African Berber descent. Adding to the complexity is the unknown “penetrance” or association between a mutation and disease onset; estimates range from 24 to 80 percent.
Currently there are no proven preventive or disease-modifying strategies for Parkinson’s, so information of one’s PD genetic profile may not influence any direct action.
“The study design raised an ethical question,&#8221; according to the authors. &#8220;Should the genetic testing results be reported to participants?”   People with Parkinson’s and their family members without PD were screened for a LRRK2 mutation, and researchers conducted a more thorough investigation on mutation carriers and a subset of those without mutations.
Sites in the United States did not offer genetic results to participants with PD, but Israeli sites concluded it would be unethical not to provide such information. They informed all PD participants who requested their results.
Most study sites did not offer results to non-PD participants unless they first received genetic counseling. The Toronto team stopped offering these results after they felt participants had trouble grasping the information.
The letter’s authors outline the arguments for each side: Knowing one’s genetic risk may be distressing. However, many feel that this data is the property of the participants and they should be allowed to receive or refuse it as they prefer.
“It is true that presently there is no definitive action one can take to offset genetic risk for Parkinson’s disease,” said Brian Fiske, PhD, vice president of research programs at The Michael J. Fox Foundation. “However, individuals who do choose to learn their genetic status can play an important role in teaching researchers about the disease and possible treatments.”
The MJFF-led <a href="https://www.michaeljfox.org/page.html?parkinsons-progression-markers-initiative-get-involved">Parkinson’s Progression Markers Initiative</a> is enrolling people with a LRRK2 mutation. The observational, biomarker study is recruiting people of Ashkenazi Jewish descent – because of greater prevalence – with Parkinson’s or with a first-degree relative with PD. <a href="https://www.michaeljfox.org/page.html?parkinsons-progression-markers-initiative-get-involved">Learn more</a> about PPMI.
You can also join the 23andMe’s <a href="https://www.23andme.com/pd/">Parkinson’s Disease Research Initiative</a> by contributing demographic and medical history information and a <a href="https://www.23andme.com/dna-ancestry/">DNA kit</a>. <a href="https://www.23andme.com/pd/">Learn more</a>.

Debate Around Informing Research Participants

<img loading="lazy" decoding="async" class="alignright size-full wp-image-16736" title="CoryMclean" src="https://blog-api.23andme.com/wp-content/uploads/2012/11/CoryMclean.jpg" alt="" width="130" height="170">
(Editor&#8217;s note: Here is a <a href="https://blog-api.23andme.com/wp-content/uploads/2012/11/LRRK2_ASHG2012_cmclean_poster.pdf" target="_blank" rel="noopener noreferrer">link</a> to Cory&#8217;s poster presented at ASHG.)
Parkinson’s disease (PD) research has long been a priority at 23andMe. Our <a href="https://www.23andme.com/pd/" target="_blank" rel="noopener noreferrer">Parkinson’s research communit</a>y is one of the largest in the world with over 9,300 patients. &nbsp;Our <a href="https://www.23andme.com/about/press/pd_discoveries_plos_62311/" target="_blank" rel="noopener noreferrer">research</a> on the disease has been published in peer-reviewed journals. &nbsp;And our scientific contributions have received wide acclaim with generous help from the <a href="https://www.michaeljfox.org/" target="_blank" rel="noopener noreferrer">Michael J. Fox Foundation</a>, <a href="https://www.youtube.com/watch?feature=player_embedded&amp;v=9B9cgyEeULU" target="_blank" rel="noopener noreferrer">Muhammad Ali</a>, and many others. Given our dedication to and reputation for Parkinson’s research, it isn’t surprising that this disease is also the subject of our first whole-genome sequencing project.
Genotyping and whole-genome sequencing are two very different ways of approaching genetic data; one of the primary differences is that genotyping only looks at a subset of locations in your DNA whereas sequencing looks at every location. &nbsp;Sequencing, thus, generates a lot more data. &nbsp;23andMe’s Personal Genome Service ® is currently based only on genotyping but the company has been exploring sequencing as the costs of the technology have dropped.
23andMe’s first whole-genome sequencing project sequenced 50 customers who agreed to be a part of this research study. Each one of these customers has a mutation called G2019S in the LRRK2 gene that is associated with much higher risk for Parkinson’s disease. But not everyone with this mutation develops Parkinson’s.
Cory McLean, a computational biologist at 23andMe, is using sequence data from these 50 customers to try to discover why. 

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Of the 50 people with the G2019S mutation studied, 37 have Parkinson’s and 13 do not. Cory has compared the genetic sequence data of those affected and those unaffected in hopes of finding genetic differences between the two groups that help explain why some have developed Parkinson’s while others haven’t. The study also confirms that it is possible to generate accurate whole-genome sequencing data from saliva samples (rather than blood).
Cory will present some of his initial findings in a poster at the<a href="http://www.ashg.org/" target="_blank" rel="noopener noreferrer"> annual meeting of the American Society of Human Genetics</a> (ASHG) on November 7. The hope is that this genetic data will open up new avenues for Parkinson’s research.

LRRK2