The 23andMe<img loading="lazy" decoding="async" class="alignright size-medium wp-image-17706" alt="pd-graphic" src="https://blog-api.23andme.com/wp-content/uploads/2013/02/pd-graphic-300x300.jpg" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2013/02/pd-graphic-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2013/02/pd-graphic-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2013/02/pd-graphic-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2013/02/pd-graphic-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2013/02/pd-graphic.jpg 400w" sizes="auto, (max-width: 300px) 100vw, 300px" />more severe non-motor symptoms.
These studies, which will be published later this year, were made possible by the participation of the now more than 10,000 people in 23andMe’s Parkinson’s Research Community, the world’s largest cohort of genotyped Parkinson’s patients. Our work has also received vital assistance from 23andMe’s partnerships with organizations like The Michael J. Fox Foundation, The Parkinson’s Institute, and the Cleveland Clinic.
<h6>Differences in Symptom Severity</h6>
In our recent study, 23andMe’s researchers studied the symptoms of thousands of Parkinson’s patients of European descent. We found differences in symptom severity between different groups:
&#8211; Patients with a mutation in the LRRK2 gene had less severe motor symptoms. 
&#8211; Patients with a higher body mass index (BMI) experienced more severe symptoms. 
&#8211; Women had less severe motor symptoms but more severe non-motor symptoms.
We also found factors that were associated with earlier age of Parkinson’s onset, which may be of potential relevance to clinicians deciding when to screen for the disease. Patients who carried a GBA gene mutation, patients not of Ashkenazi Jewish descent and patients with higher BMIs tended to have earlier ages of onset.
Our researchers also confirmed previous studies that showed that both smoking and caffeine consumption was associated with a lower risk for Parkinson’s. (We do not suggest anyone take up smoking.)
<h6>Much to Learn</h6>
Such information on the onset and symptomology of different populations could benefit both patients and their doctors. It could give both an idea of what to expect, and what&#8217;s needed in building a treatment plan.
We still have much to learn about this disease. For instance, the relationship between genes and environment in causing Parkinson’s. We also want to know how the disease develops differently in different people. And we want to know the role genetics plays in influencing how patients respond differently to different treatments. Participants in the 23andMe Parkinson’s Research Community continue to help researchers make strides toward a greater understanding of Parkinson&#8217;s. We hope it will also lead to new treatments for Parkinson’s disease.
<a href="https://www.23andme.com/pd/?utm_source=23andMeBlog&#038;utm_medium=2014Aprilblog&#038;utm_campaign=PDUpdate">Learn more</a> about how you can become part of the genetics revolution underway in Parkinson’s.

23andMe Blog

23andMe Blog Team

Parkinson’s Symptoms Different For Men and Women

A friend of Gwen Schroeder once told her: “Don’t cheer from the sidelines if you can run the race.”<img loading="lazy" decoding="async" class="alignright size-medium wp-image-20235" src="https://blog-api.23andme.com/wp-content/uploads/2014/01/Gwen-1-214x300.jpg" alt="Gwen " width="214" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2014/01/Gwen-1-214x300.jpg 214w, https://blogcms.23andme.com/wp-content/uploads/2014/01/Gwen-1-842x1180.jpg 842w, https://blogcms.23andme.com/wp-content/uploads/2014/01/Gwen-1-768x1076.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2014/01/Gwen-1-731x1024.jpg 731w, https://blogcms.23andme.com/wp-content/uploads/2014/01/Gwen-1-628x880.jpg 628w, https://blogcms.23andme.com/wp-content/uploads/2014/01/Gwen-1-scaled.jpg 1828w" sizes="auto, (max-width: 214px) 100vw, 214px" />
So when her father was diagnosed with Parkinson’s disease, Gwen laced up her shoes.
<h6>The First Step</h6>
A post-production manager who works in New York City for the TED Conferences, Gwen signed up to run a marathon to raise money for the<a href="https://www.michaeljfox.org/"> Michael J Fox Foundation for Parkinson’s Research</a>.
Since that first marathon, Gwen has run in three more, even strapping a camera to her head as part of the effort. In the process, she has raised over $20,000 for Parkinson’s research.
Not content with just fundraising on her own, Gwen has also joined clinical trials for Parkinson’s research and become a mentor for Team Fox, the grassroots fundraising arm of the<a href="https://www.michaeljfox.org/"> Michael J Fox Foundation</a>.
<h6>Participating in Research</h6>
On top of all that, Gwen signed up with 23andMe specifically to help in the company’s<a href="https://www.23andme.com/pd/"> Parkinson’s Research Community.</a>
“For a while, I avoided even thinking about sending a kit off,” she said about testing. “But the more I considered it, the more I felt like this was a tiny step towards a greater understanding of Parkinson&#8217;s disease. My participation could someday help another family. So, I took a deep breath, spit into the little jar and sent it off.”
But once she decided to test, Gwen said her concerns evaporated.
&#8220;Once I made the decision to do it I was fine,” she said.
That didn’t mean she wasn’t curious about what she would learn, but much more comfortable with it. And for Gwen what was most important was helping the Parkinson’s community.
“The knowledge that I’ve furthered research makes everything I’ve learned about my genes far less scary.”
Results will vary due to unique differences in each individual’s DNA. On average users receive at least one or two results that may be relevant to proactively managing health. 23andMe&#8217;s service does not diagnose disease. 23andMe is not a substitute for professional medical or diagnostic advice.

Getting In the Race

<img loading="lazy" decoding="async" class="aligncenter wp-image-17706 size-full" title="pd-graphic" src="http://35.88.189.111/wp-content/uploads/2013/02/pd-graphic.jpg" alt="" width="400" height="400" srcset="https://blogcms.23andme.com/wp-content/uploads/2013/02/pd-graphic.jpg 400w, https://blogcms.23andme.com/wp-content/uploads/2013/02/pd-graphic-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2013/02/pd-graphic-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2013/02/pd-graphic-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2013/02/pd-graphic-372x372.jpg 372w" sizes="auto, (max-width: 400px) 100vw, 400px" />
We’re excited to announce that the 23andMe Parkinson’s Research Community has exceeded its goal, enrolling more than 10,000 people with the disease and creating the largest cohort of genotyped people with Parkinson’s in the world.
Reaching this milestone offers scientists an incredible opportunity to better understand the causes and potential treatments for this neurodegenerative disease.  While we’ve already done important Parkinson’s research, it is what we hope to do in the future that is most exciting for researchers here at 23andMe.
“Having reached this important milestone, the next step for us is to focus on the data that we have collected,” said 23andMe’s Parkinson’s Research Manager Emily Drabant, PhD.  “This is a tremendously rich dataset and we want to learn as much as we can from it.” 
 
23andMe started this initiative four years ago, as a way to accelerate research into Parkinson’s, and we’ve already shown how our model can do just that by quickly replicating known genetic associations with Parkinson’s and discovering <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002141" target="_blank" rel="noopener noreferrer">previously unknown genetic associations with the disease.</a>
Now that we’ve reach this enrollment goal, we can delve into the data to better understand such things as:
&#8211; The relationship between environmental and genetic factors in the development of Parkinson’s. 
&#8211; How those with Parkinson&#8217;s react differently to treatment so that treatments my be better individually targeted. 
&#8211; And, by continuing to engage with our community members – who, through their courage in the face of this difficult illness, inspire us –  we can better understand the disease and its progression.
Our research model offers great potential for the study of many different diseases, but it is ideally suited for studying diseases like Parkinson’s in which patients are limited by their illness.
“The symptoms of Parkinson’s often interfere with motor skills and affect each individual differently, so a traditional approach to research that requires individuals to physically go to a clinical research center can be a huge barrier to participation and data collection,” Dr. Drabant said.  “23andMe provides a unique opportunity for individuals to participate in research at their own convenience. By providing a saliva sample and answering questions online in the comfort of their own homes, individuals are enabling researchers to advance our understanding of how genes and environmental factors may inform the development and progression of Parkinson’s disease.”
And it is the people who are part of our Parkinson’s Research Community, who inspire us in our work with their courage in the face of this difficult illness. We could not have done any of this without each of the thousands of people who have joined the community and shared their data to advance our understanding of Parkinson’s.  We want to thank our Parkinson’s Research Community members for coming together and making this research possible.
We also want to thank our partners and friends at the <a href="https://www.michaeljfox.org/">Michael J. Fox Foundation</a>, <a href="http://www.thepi.org/">The Parkinson’s Institute</a>, <a href="http://www.parkinson.org/">National Parkinson’s Foundation</a>, <a href="http://my.clevelandclinic.org/default.aspx">Cleveland Clinic</a>, <a href="http://www.cureparkinsons.org.uk/">Cure Parkinson’s Trust</a>, <a href="http://www.pdasd.org/">Parkinson’s Association of San Diego</a>, <a href="http://www.nwpf.org/">Northwest Parkinson’s Foundation</a>, <a href="http://www.parkinsons.org.uk/">Parkinson’s UK</a>, <a href="http://www.caring.com/">Caring.com</a>, and <a href="http://www.parkinsons.ie/">Parkinson’s Association of Ireland</a>. These important institutions have offered tremendous support to this research as well as helping us spread the word and recruit interested individuals into this research community.
It has been quite a journey over the last four years — one that has taken us to<a href="https://blog.23andme.com/23andme-research/in-washington-talking-about-parkinsons-research/"> Washington DC to raise awareness for PD research</a>, to<a href="https://blog.23andme.com/news/inside-23andme/23andali/"> Muhammad Ali’s 70th birthday celebration to spread the word</a>, to<a href="https://blog.23andme.com/23andme-research/23andmes-parkinsons-community-is-almost-there/"> numerous PD patient conferences</a>, and led to some great press for the cause, including articles on<a href="https://www.npr.org/blogs/health/2012/08/20/158943097/search-for-parkinsons-genes-turns-to-online-social-networking"> NPR</a>,<a href="https://www.bloomberg.com/news/2012-05-11/google-s-brin-makes-strides-in-hunt-for-parkinson-s-cure-health.html"> Bloomberg</a>, BioCentrury TV and<a href="https://www.wired.com/magazine/2010/06/ff_sergeys_search/all/1"> Wired</a>.
We’re excited by the road ahead. We will continue to welcome people to participate in our research. While initially a donation from the Brin-Wojcicki Foundation was meant to cover the costs for just the first 10,000 people with Parkinson’s to enroll, the foundation’s continued generosity will allow us to continue to make it <a href="https://www.23andme.com/pd">free for anyone with Parkinson&#8217;s to join 23andMe</a> and be part of this research initiative.
We know that the possibilities for discovery continue to grow, and, with the continued partnership of our engaged Parkinson’s Research Community, we will move ever closer to a cure.

23andMe Reaches Parkinson’s Research Goal

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-12100" title="emily" src="https://blog-api.23andme.com/wp-content/uploads/2012/04/emily-240x300.jpg" alt="" width="240" height="300" />
Our<a href="https://www.23andme.com/pd/"> Parkinson’s research community</a> got some welcome attention from <a href="https://www.npr.org/blogs/health/2012/08/20/158943097/search-for-parkinsons-genes-turns-to-online-social-networking">NPR on Monday</a> just as we are on the cusp of reaching our goal of enrolling 10,000 patients.
The piece featured Emily Drabant, PhD, 23andMe’s research manager for our<a href="https://www.23andme.com/pd/"> Parkinson’s community,</a> and focused on our model of engaging patients as partners in research using online tools and social networking. While this isn’t new for us, some are only now warming to the idea and its potential.
In the NPR piece, Hank Greeley, a Stanford Law School professor, and sometimes critic of direct to consumer genetics testing companies like 23andMe, conceded that there’s power in the ability to tap into online tools for recruitment.
&#8220;[23andMe] may in theory be able to involve 10,000 people with Parkinson&#8217;s disease, and do it cheaply and easily,” Greely told NPR. &#8220;Now that&#8217;s something that academic researchers would love to be able to do.&#8221;
<div style="width: 200px; padding: 10px; float: right; margin-left: 20px; margin-top: 5px; border: 2px solid #c66;">
Participate in research!<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-12404" style="margin-bottom: 10px;" title="Parkinson's disease fight arm" src="https://blog-api.23andme.com/wp-content/uploads/2012/04/pd_fist_300px-150x150.png" alt="" width="125" height="125" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/04/pd_fist_300px-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2012/04/pd_fist_300px-271x271.png 271w" sizes="auto, (max-width: 125px) 100vw, 125px" />
<div>As a member of 23andMe, you can participate in research simply by taking <a href="https://www.23andme.com/you/23andwe/surveys">surveys</a>. If you have Parkinson&#8217;s disease or know someone who does, learn more about joining our <a href="https://www.23andme.com/pd">Parkinson&#8217;s Disease</a> initiative!</div>
</div>
Getting to 10,000 is important because as any researcher will tell you, there is strength in numbers. Drawing from such a large pool of patients gives power to the research.
Having what is already the world’s largest Parkinson’s community for genetic research helped us discover <a href="https://www.23andme.com/about/press/pd_discoveries_plos_62311/">new genetic</a> variants associated with Parkinson’s – including a potentially <a href="https://www.23andme.com/about/press/sgk1/">protective factor</a>.
Parkinson’s is an extremely complex disease. Uncovering more about the role genetics plays in Parkinson’s could provide valuable information about the development of the disease and how to combat it. Last year 23andMe found<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002141"> two new genetic associations</a> with Parkinson’s and more recently found a genetic variant in the gene<a href="https://www.23andme.com/about/press/sgk1/"> SGK1</a> that is potentially protective against the disease. With the help of the Michael J. Fox Foundation,<a href="http://www.scripps.edu/newsandviews/e_20111031/lograsso.html"> the Scripps Research Institute</a> is following up the SGK1 discovery with lab studies that we hope will lead to new treatments.
Check out some of our other recent posts on Parkinson&#8217;s: 
&#8211; <a href="../23andme-research/why-not-participate-one-patients-perspective/">Why Not Participate? One Patient’s Perspective</a>
&#8211; <a href="../23andme-research/23andmes-latest-publication-shines-light-on-male-pattern-baldness-and-unexpected-associations-with-disease/">23andMe’s Latest Publication Shines Light on Male Pattern Baldness and Unexpected Associations with Disease</a>
&#8211; <a href="../news/the-state-of-the-science-of-parkinsons-research/">The State of the Science of Parkinson’s Research</a>

23andMe’s Parkinson’s Research Featured on NPR

<img loading="lazy" decoding="async" class="aligncenter wp-image-14448 size-full" title="EMD_Iowa_highres" src="http://35.88.189.111/wp-content/uploads/2012/07/EMD_Iowa_highres.jpg" alt="" width="1978" height="2106" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/07/EMD_Iowa_highres.jpg 1978w, https://blogcms.23andme.com/wp-content/uploads/2012/07/EMD_Iowa_highres-282x300.jpg 282w, https://blogcms.23andme.com/wp-content/uploads/2012/07/EMD_Iowa_highres-768x818.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/07/EMD_Iowa_highres-962x1024.jpg 962w, https://blogcms.23andme.com/wp-content/uploads/2012/07/EMD_Iowa_highres-827x880.jpg 827w, https://blogcms.23andme.com/wp-content/uploads/2012/07/EMD_Iowa_highres-1108x1180.jpg 1108w" sizes="auto, (max-width: 1978px) 100vw, 1978px" />23andMe&#8217;s Emily Drabant, PhD, speaking at a Parkinson&#8217;s event in Iowa.
23andMe is tantalizingly close to reaching the goal of enrolling 10,000 patients in our<a href="https://www.23andme.com/pd/"> Parkinson’s research community</a>.
We’re past the 8,000 mark and the pace of enrollment is now more than two-and-a-half times what was a year ago, but we’re not there yet. Getting to 10,000 is important because as any researcher will tell you, there is strength in numbers. Having what is already the world’s largest Parkinson’s community for genetic research helped us discover new genetic variants associated with Parkinson’s – including a potentially protective factor.
While we’ve already dramatically accelerated the pace of Parkinson’s research, we still have much work to do both in better understanding the disease and in finding new treatments.
Later this month, Emily Drabant, PhD, 23andMe’s research manager for our<a href="https://www.23andme.com/pd/"> Parkinson’s community,</a> will speak at the<a href="http://my.clevelandclinic.org/brain_health/default.aspx"> Cleveland Clinic’s Lou Ruvo Center for Brain Health</a> in Las Vegas about 23andMe’s unique patient-centered research model, what we know about the genetics of Parkinson’s and some of the latest advances in Parkinson’s research. The presentation is specifically for patients at the Cleveland Clinic, which is one of our Parkinson’s research collaborators. We’re recruiting 1,000 Parkinson’s patients from the Cleveland Clinic for a sub-study that will integrate clinical data with genetics.
<img loading="lazy" decoding="async" class="aligncenter wp-image-4013 size-full" title="geneticresearch7" src="http://35.88.189.111/wp-content/uploads/2009/07/geneticresearch7.jpg" alt="" width="350" height="268" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearch7.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearch7-300x230.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
Parkinson’s is an extremely complex disease. Uncovering more about the role genetics plays in Parkinson’s could provide valuable information about the development of the disease and how to combat it. Last year 23andMe found<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002141"> two new genetic associations</a> with Parkinson’s and more recently found a genetic variant in the gene SGK1 that is potentially protective against the disease. With the help of the Michael J. Fox Foundation,<a href="http://www.scripps.edu/newsandviews/e_20111031/lograsso.html"> the Scripps Research Institute</a> is following up the SGK1 discovery with lab studies that we hope will lead to new treatments.
We hope to add more breakthroughs as we reach our goal of 10,000 members in the Parkinson’s Research Community.
<div style="width: 200px; padding: 10px; float: right; margin-left: 20px; margin-top: 5px; border: 2px solid #c66;">
Participate in research!<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-12404" style="margin-bottom: 10px;" title="Parkinson's disease fight arm" src="https://blog-api.23andme.com/wp-content/uploads/2012/04/pd_fist_300px-150x150.png" alt="" width="125" height="125" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/04/pd_fist_300px-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2012/04/pd_fist_300px-271x271.png 271w" sizes="auto, (max-width: 125px) 100vw, 125px" />
<div>As a member of 23andMe, you can participate in research simply by taking <a href="https://www.23andme.com/you/23andwe/surveys">surveys</a>. If you have Parkinson&#8217;s disease or know someone who does, learn more about joining our <a href="https://www.23andme.com/pd">Parkinson&#8217;s Disease</a> initiative!</div>
</div>
Of course, the success of the 23andMe’s Parkinson’s Community has come with the help of some very active members of the community, including more than 200 Parkinson’s “Ambassadors,” who’ve helped spread the word about the research. 23andMe has also received the support of some great people, Michael J. Fox and Muhammad Ali, who have both lent their efforts to the cause. Finally we’ve been helped by some fantastic partners like the Cleveland Clinic, the<a href="https://www.michaeljfox.org/"> Michael J. Fox Foundation</a>, the<a href="http://www.thepi.org/"> Parkinson’s Institute</a>, the National Parkinson Foundation, the Parkinson’s Association of San Diego, the Cure Parkinson’s Trust and Parkinson’s UK.

23andMe’s Parkinson’s Community is Almost There

By Lauren Anderson
For many, the decision to participate in genetic research is not a trivial one. But for Gary Schmitz, he didn’t think twice. “For me,” he says, “the question was why wouldn’t you want to contribute?”
<img loading="lazy" decoding="async" class="alignright size-full wp-image-13795" title="Gary-Schmitz-249x300" src="https://blog-api.23andme.com/wp-content/uploads/2012/06/Gary-Schmitz-249x300.jpg" alt="" width="249" height="300" />
Not long after The Michael J. Fox Foundation and 23andMe, <a href="https://www.23andme.com/pd/" target="_blank" rel="noopener noreferrer">announced</a> a new research community for Parkinson’s patients, Gary signed on. In January 2010, he became part of what would become the world’s largest Parkinson&#8217;s community. He shared his spit, using 23andMe’s DNA kit.
“It was easy to do and didn’t require much from me,” Gary says. He found the results from his test interesting–and comprehensive. Diagnosed with Young-onset Parkinson’s at 38, Gary, now 50, learned he was only at a slightly higher than normal risk for developing PD. He was most surprised by the amount of information he received–about his maternal and paternal bloodlines, food preferences, muscle performance. Happily, he learned he was not likely to go bald, which he hopes is right. “I even found out if my <a href="https://www.23andme.com/topics/traits/earwax-type/">earwax</a> was moist or not,” he says.
Learning more about his genetic profile was actually something of a relief to Gary. Since he had little genetic predisposition to Parkinson’s, such as carrying the LRRK2 mutation, he now worries less about his two children developing Parkinson’s. But even if his results had been different, having that knowledge makes a difference, he says. “If you’re at risk for something, then you can do something about it. You may know you need to see a certain type of doctor twice a year versus once.”
<div style="float: right; text-align: justified; width: 180px; background-color: #eee; padding: 15px; margin-left: 10px;">For Father&#8217;s Day 
If your Dad has Parkinson&#8217;s, show him you care by making a long-term investment in his health and the future of Parkinson&#8217;s disease research. At no cost, give him access to his genetic data and the growing Parkinson&#8217;s Research Community (~7,500 strong!) at 23andMe. Visit <a href="https://www.23andme.com/pd/" target="_blank" rel="noopener noreferrer">www.23andme.com/pd</a> to sign him up.</div>
Participating in genetic research was only the beginning for Gary. Since then, he completed a profile on <a href="https://foxtrialfinder.michaeljfox.org/" target="_blank" rel="noopener noreferrer">Fox Trial Finder</a>, The Michael J. Fox Foundation’s clinical trial matching site. Through this tool, he found–and completed–a study on cognition and Parkinson’s at the University of Texas Southwestern Medical Center, which is near his home in the Dallas area. He also connected with Ceregene’s CERE-120 trial, for a potentially neuro-protective gene therapy. However, as he was being screened for this trial, Gary learned he had suffered a small stroke at some point. While this made his participation in the trial no longer possible, it was information he didn’t have before. And it hasn’t dampened his determination to participate in future clinical trials–he’s still looking to contribute wherever he can.
Like his attitude toward genetic research, Gary wonders why you wouldn’t participate in clinical research. “I want everyone to get involved through Fox Trial Finder,” he says. And he’s encouraging friends and family members to sign up.
Gary has also taken action through Team Fox–“to do something positive,” he says. In Texas, he has hosted several Team Fox events, including a pancakes breakfast and a shopping event on his town’s Main Street. His sister in Milwaukee, Wisconsin, has gotten involved, too. She hosted a comedy night and an event at a Milwaukee Brewers’ game.
Through Team Fox and clinical trial participation, Gary is happy to do his part to help speed a cure and support MJFF’s efforts. “The Michael J. Fox Foundation is a sign of hope for me,” he says. “I know they’re working in one direction–toward improved treatments and a cure. That’s just what I need.”

Lauren Anderson

Why Not Participate? One Patient’s Perspective

<img loading="lazy" decoding="async" class="alignright size-full wp-image-10815" title="Anne black and white" src="https://blog-api.23andme.com/wp-content/uploads/2012/01/Anne-black-and-white.jpg" alt="" width="110" height="166" />
[Ed: A clarifying addendum has been added to the end of this post. &#8211; 6/01/12]
23andMe has a substantial research arm with more than 20 scientists dedicated to making meaningful discoveries that will improve the lives of all of us.  We’ve made a number of discoveries that we’ve <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1000993" target="_blank" rel="noopener noreferrer">published</a> in <a href="http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1002141" target="_blank" rel="noopener noreferrer">peer reviewed journals</a> and on our website.
As we make these discoveries, we have often debated: what is the best way to make sure that genetic breakthroughs translate into real-world benefits?  We want to make discoveries that will impact your life and the lives of everyone on the planet.  We do not want our discoveries to just be an academic pursuit &#8212; we want to meaningfully improve lives.
Our patent, “<a href="http://patft.uspto.gov/netacgi/nph-Parser?Sect1=PTO1&amp;Sect2=HITOFF&amp;d=PALL&amp;p=1&amp;u=%2Fnetahtml%2FPTO%2Fsrchnum.htm&amp;r=1&amp;f=G&amp;l=50&amp;s1=8,187,811.PN.&amp;OS=PN/8,187,811&amp;RS=PN/8,187,811">Polymorphisms Associated With Parkinson’s Disease</a>” is expected to issue on Tuesday, May 29, 2012. This relates to our discovery of a variant in the SGK1 gene that may be protective against Parkinson’s disease in individuals who carry the rare risk-associated LRRK2 G2019S mutation.  Our patent is an important step in ensuring that we’ve done all we can towards successful translation of this discovery.  If the follow up work we are now doing with the Scripps Research Institute and the Michael J. Fox Foundation looks promising and moves towards drug development, the patent will be important for a biotech or pharmaceutical company to pursue drug development.
We believe patents should not be used to obstruct research or prevent individuals from knowing what&#8217;s in their genome. We believe that everyone has a right to know their genomes &#8212; their sequence of As, Ts, Cs, and Gs &#8212; and should be able to access them should they want to.  This has been our guiding principle since day one, and 23andMe has pioneered the ability for individuals to have unfettered access to their genomes.
We recognize that patents are complicated and can be controversial. Patents were created to protect innovation. Is discovering the function of a gene an innovation?
The question of whether innovations related to genetics can be patented is in hot debate as evidenced by recent rulings related to <a href="http://www.supremecourt.gov/opinions/11pdf/10-1150.pdf" target="_blank" rel="noopener noreferrer">Prometheus</a> and Myriad patents.
We want to emphasize that we are firm in our belief that individuals should have access to their own genetic data. We will continue to pursue patents that we believe will eventually benefit us all. The majority of our customers have opted to participate in research. Thanks to that community, we have been able to make an incredible number of novel discoveries. We want those discoveries to move from the realm of academic publishing to the world of impacting lives by preventing, treating or curing disease.
Addendum &#8212; June 1, 2012:
The patent announcement has generated a lot of discussion. In addition to reiterating our core beliefs I&#8217;d like to clarify a few points about our perspective:
23andMe will not prevent others from accessing their genetic data or its interpretation specific to our patents.
Other entities can present information about the genetic associations covered in our patents without licensing fees. As has always been the case, 23andMe customers can freely apply their raw genetic data to other interpretation tools whenever they wish.
23andMe is a business with a mission to improve lives.  
We sell a service to our customers and we conduct research, on our own and with partners, that we believe will lead to better treatments, diagnostics, and prevention of disease. We aim for these discoveries to benefit everyone.
Patents give organizations researching and developing new drugs confidence that their significant investments will be commercially viable.  
Developing new drugs and treatments costs time and money. A lot of time and money. Often the only way a company will even think about pursuing a drug lead is if they have assurance that they can recoup their investment. Having patent protection over the entire line of discovery gives a company confidence to invest in this resource-intensive process.
Many of you, <a href="http://blog.michaeljfox.org/2012/05/patent-23andme-step-meaningfully-improving-lives/">especially in the Parkinson&#8217;s community</a>, saw this as a major milestone and the first step in potentially having a meaningful impact on the lives of Parkinson&#8217;s patients. Our ultimate goal is to make discoveries that will benefit everyone.

Announcing 23andMe’s First Patent

<img loading="lazy" decoding="async" class="alignright wp-image-12514 size-medium" title="MJF, Todd and Anne" src="http://35.88.189.111/wp-content/uploads/2012/04/MJF-Todd-and-Anne-300x189.jpg" alt="" width="300" height="189" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/04/MJF-Todd-and-Anne-300x189.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/04/MJF-Todd-and-Anne-768x483.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/04/MJF-Todd-and-Anne.jpg 864w" sizes="auto, (max-width: 300px) 100vw, 300px" />Todd Sherer, CEO of the Michael J. Fox Foundation, with Michael J. Fox and Anne Wojcicki
Michael J. Fox is a great actor, but his smiles and good humor during a visit to 23andMe headquarters in Mountain View this week were fully sincere.
<h2>Living with Parkinson&#8217;s</h2>
“I really mean what I say when I express optimism, positivity, and gratitude,” Michael said. “I don’t have those dark moments, but at the same time, having said that, I know people with Parkinson’s suffer depression. I know I live a rarified life and have had good fortune. I don’t mean to compare my attitude to others.”
His stop at 23andMe was part of a sort of mini-West Coast tour with stops in Los Angeles, Seattle and Portland. Joining him were other officials from the <a href="http://www.michaeljfox.org/" target="_blank" rel="noopener noreferrer">Michael J. Fox Foundation</a>, which included CEO Todd Sherer and Debi Brooks, the foundation’s co-founder and Executive Vice Chairman.
<h2>A Force for Research</h2>
Since it was formed just over a decade ago, the Michael J. Fox Foundation has raised more than $285 million for Parkinson’s research, and the actor has brought worldwide attention to the illness.
The foundation has also been an intimate partner with 23andMe’s work on Parkinson’s. (The Foundation posted a blog on the visit <a href="http://blog.michaeljfox.org/" target="_blank" rel="noopener noreferrer">here</a>.) While the partnership has already borne fruit, initially, it required the foundation to take a risk on us, said our CEO Anne Wojcicki.
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-12527" title="Anne&amp;MJF" src="https://blog-api.23andme.com/wp-content/uploads/2012/04/AnneMJF-300x266.jpg" alt="" width="300" height="266" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/04/AnneMJF-300x266.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/04/AnneMJF-768x682.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/04/AnneMJF-880x781.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/04/AnneMJF.jpg 1000w" sizes="auto, (max-width: 300px) 100vw, 300px" />
“None of this could have happened if we didn’t partner with the Michael J. Fox Foundation,” Anne said during the visit. “I come from the research world, and a lot of scientists don’t like to take risks or try something new.”
<h2>A New Kind of Research</h2>
But the gamble has paid off. In a short time, 23andMe’s <a href="https://www.23andme.com/pd/" target="_blank" rel="noopener noreferrer">Parkinson’s Research Community</a> has grown to more than 7,500, the world’s largest Parkinson’s community for genetic research. In that time, we’ve been able to replicate known genetic associations for Parkinson’s; we’ve discovered two new genetic associations with the disease; and late last year, we found a genetic variant that is possibly protective against the disease.
This is all heady stuff, said Michael.
“What excites me is what the Fox Foundation is doing with 23andMe,” he said. “Especially after today…it’s crucial work you’re doing.”
Still boyishly handsome at 50, Fox has become known not just for his acting and good humor but also for his philanthropy and the work he has done on Parkinson’s. First diagnosed in 1991, he has continued to act while raising his four children and working with the foundation.
During his visit, he asked questions of employees at 23andMe.
<h2>Big-Time Heroes</h2>
He said he had inspired so many people, and he was asked who had inspired him.
“My big-time heroes are Gandhi, (Martin Luther King), and Nelson Mandela,” he said. “People who respond to negativity with positivity, optimism, and non-violence. Those are my mega heroes. But the Parkinson’s patient community inspires me. The scientific community inspires me, and anyone seeking knowledge inspires me. So, you all inspire me. And my kids.”
Fox said he’d spoken with an English researcher looking into optimism and was told his genetics fit the profile of someone with a predisposition toward optimism.
“I like to say it’s in my genes,” he said.
And, of course, he got a few movie star questions: 
“Did you really ride on a hoverboard for Back to the Future II?
“I had a pink piece of plastic stapled to my feet, and I was strapped hanging from a cherry picker,” he said.
“If we collectively find a cure, would you agree to star in another Back to the Future movie?
“Sure, but I’ll play Doc this time.”

Michael J. Fox, Our Big-Time Hero

<img loading="lazy" decoding="async" class="alignright wp-image-4013 size-full" title="geneticresearch7" src="http://35.88.189.111/wp-content/uploads/2009/07/geneticresearch7.jpg" alt="" width="350" height="268" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearch7.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearch7-300x230.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
Recently, Todd Sherer, CEO of The Michael J. Fox Foundation (MJFF), Brian Fiske, vice president of research programs at MJFF, and Emily Drabant, 23andMe’s research manager for its <a href="https://www.23andme.com/pd/" target="_blank" rel="noopener noreferrer">Parkinson’s community,</a> sat down and took stock of the recent advances in Parkinson’s research.
Their conversation centered around new understandings of the genetics of Parkinson’s disease that could form the building blocks for research over the next decade.
Learning more about the role genetics plays in Parkinson’s could provide life changing new treatments for people living with the disease. &nbsp;Much of the work to this end is currently focused on a particular mutation in the LRRK2 gene. About one in 10,000 people have this particular mutation – G2019S – which is associated with a 50 percent lifetime risk of Parkinson’s compared to about one percent in the general population. While this association is well established, the role the mutation plays in the development of the disease is less clear. Researchers, however, have made some important breakthroughs offering insight into the possible role that LRRK2 plays in developing the disease, as well as how genetics may interact with environmental factors to cause Parkinson’s.
<h6>LRRK2 and Neuroinflammation</h6>
Fiske said new data suggests the body’s immune system, particularly the<a href="https://www.ncbi.nlm.nih.gov/pubmed/21552986"> inflammatory response in the brain</a>, may play a key role in the development of Parkinson’s. Inflammation is the body’s response to injury, but the response, particularly an exaggerated immune response, could lead to harmful neuroinflammation. It appears that one component of Parkinson’s is this harmful neuroinflammatory response. 
Researchers, supported by MJFF, are studying whether the LRRK2 mutation leads to a more exaggerated inflammatory response. &nbsp;To date, the data are looking very interesting in this direction.
<img loading="lazy" decoding="async" class="alignright wp-image-12055 size-medium" title="DSC_5239_Todd Sherer, PhD" src="http://35.88.189.111/wp-content/uploads/2012/04/DSC_5239_Todd-Sherer-PhD-201x300.jpg" alt="" width="201" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/04/DSC_5239_Todd-Sherer-PhD-201x300.jpg 201w, https://blogcms.23andme.com/wp-content/uploads/2012/04/DSC_5239_Todd-Sherer-PhD-768x1147.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/04/DSC_5239_Todd-Sherer-PhD-589x880.jpg 589w, https://blogcms.23andme.com/wp-content/uploads/2012/04/DSC_5239_Todd-Sherer-PhD-790x1180.jpg 790w, https://blogcms.23andme.com/wp-content/uploads/2012/04/DSC_5239_Todd-Sherer-PhD-686x1024.jpg 686w, https://blogcms.23andme.com/wp-content/uploads/2012/04/DSC_5239_Todd-Sherer-PhD-scaled.jpg 1715w" sizes="auto, (max-width: 201px) 100vw, 201px" />Todd Sherer, PhD
Sherer said that one high level theory is that if this connection is real this could explain why not everyone with the LRRK2 mutation develops Parkinson’s.
“To activate the immune system response you need some kind of trigger,” he said. “It may take a trigger to interact with the genetics, but no one has tested for this yet.”
<h6>LRRK2 And Cellular Pathways</h6>
Just as in everyday life we accumulate clutter and waste that eventually has to be thrown out, inside our bodies our daily functions produces trash of sorts that has to be cleared out. Our cells actually have a sort of self-cleaning mechanism called “autophagy” that clears out junk protein and other cellular debris.
Parkinson’s researchers have found that this process is somehow broken in patients with the LRRK2 mutation. Studies are focused on whether decreased autophagy may make cells in the brain more susceptible to Parkinson’s-related cell death. Researchers want to know if this is a cause for the disease or simply an effect from it, said Fiske.
<img loading="lazy" decoding="async" class="alignright wp-image-12056 size-medium" title="Brianfiske" src="http://35.88.189.111/wp-content/uploads/2012/04/Brianfiske-300x200.jpg" alt="" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/04/Brianfiske-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/04/Brianfiske-880x586.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/04/Brianfiske-768x511.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/04/Brianfiske-1024x681.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/04/Brianfiske-1180x785.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />Brian Fiske, PhD
<h6>LRRK2 Clinical Observations</h6>
Researchers are comparing individuals who have the LRRK2 mutation and Parkinson’s with people who have developed the disease but don’t have the LRRK2 mutation. These patients who have the disease but don’t have the mutation are also known as “idiopathic” Parkinson’s patients. Researchers found that while the disease in these two types patients appears to be very similar, in some cases the LRRK2 patients have somewhat milder symptoms. For instance, the loss of smell is less pronounced in LRRK2 patients.
According to Fiske work comparing these patients has also highlighted some other intriguing links that researchers would like to explore.. For example, there is an apparent link between LRRK2 and an increased risk for non-skin cancers. This may have to do with a shared genetic background among people of similar ancestry, for instance, instead of some other causal link, but The Michael J. Fox Foundation’s LRRK2 Cohort Consortium is looking into this connection.
<h6>Other Genetic Factors for Parkinson’s</h6>
When exploring the genetics underlying the disease, researchers are still trying to understand why the LRRK2 mutation sometimes doesn’t lead to development of the disease. Scientists also want to know why the age at which a person develops Parkinson’s is so variable, said Sherer. What is clear is that there are other genetic and environmental factors involved.
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-12100" title="emily" src="https://blog-api.23andme.com/wp-content/uploads/2012/04/emily-240x300.jpg" alt="" width="240" height="300">Emily Drabant, PhD
And while there is a lot of focus on the LRRK2 mutation, other genetic factors are also involved. Last year 23andMe found<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002141"> two new genetic associations</a> with the disease and more recently found a genetic variant,<a href="https://www.23andme.com/about/press/sgk1/"> SGK1,</a> that is potentially protective against the disease. Other genetic mutations associated with the disease include one protein primarily found in brain tissue called alpha-synuclein, which is encoded by the SNCA gene. Researchers have found that alpha-synuclein accumulates and clumps together in the brain of Parkinson’s patients. There currently is a clinical trial for a drug that specifically targets these clumps of alpha-synuclein as a way to treat Parkinson’s patients.
There are other genetic variants that are also being looked at, and there is a much broader effort to do a sort of “mega” meta-analysis that would develop a master list of common genetic variants associated with the disease. It’s believed that together these genetic variants account for about a quarter of all Parkinson’s cases, but most of those genetic associations have yet to be discovered. 23andMe and MJFF &nbsp;are part of this large-scale effort. Some of this work may be helped as the cost of exome sequencing and full genome sequencing continues to drop. Most recently an association with a variant in the VPS35 gene was found through exome sequencing. 
“It’s one of the first PD genes found (through exome sequencing) so it represents a technological turning point away from the classic (genome-wide association study) approaches in the past,” said Fiske. “It seems to play roles in pathways involved in transport of proteins around the cell, but we have little understanding yet of how it might lead to Parkinson’s.”
<h6>Parkinson’s Indicators</h6>
Another thrust of the research is into biomarkers that can be used to track the progression of Parkinson’s and may help in early intervention. It could be that looking at alpha-synuclein or another protein called DJ-1 may offer a good way to track the disease. In the case of alpha-synuclein, it might be that detecting clumps of the protein could offer a good measure. There is also the possibility of piggybacking on a technique developed for brain imaging of Alzheimer’s disease. That method, looking at the beta-amyloid protein, could be copied in some way with Parkinson’s patients. 
Researchers are now able to use a brain scan, called the DATSCAN, to measure dopamine in the brain. But while the scan is good for detecting deficits in people in early stages of the disease, those deficits don’t change significantly after a patient has full-blown Parkinson’s, said Fiske. New imaging technologies could be used not just to diagnose the disease and its progression, but also to test the effectiveness of drug treatment.
Finally, while there is a lot of attention focused on treatment, there is also work being done to try to detect Parkinson’s earlier and earlier. Researchers already know that people in Parkinson’s earliest, or “pre-motor” phase, have distinct symptoms, such as loss of smell, sleep problems and constipation. In combination, those symptoms can be a good predictors of Parkinson’s. By identifying those with high risk of developing the disease, it may be easier to target them with new drugs or other therapies to prevent them from ever developing Parkinson’s.
<h6>Conclusion</h6>
New understandings of the genetics of PD offers much to be hopeful about. Parkinson’s is an extremely complex disease, but researchers are finding more and more pieces in our effort to complete our understanding of this sometimes puzzling disease. We are lucky to have so many resources to help us do that. This update really only scratches the surface of the work being done to find treatment and a cure for Parkinson’s. We hope to follow up with another update on the promising Parkinson’s research later this year.

Michael J. Fox Foundation — Page 3