By Nick Eriksson, 23andMe Principal Scientist, and Lizzie Dorfman, Parkinson’s Research Project Manager

Less than a year ago we announced the launch of the 23andMe Parkinson’s Research Initiative. Since then, we have built one of the world’s most useful resources for studying the genetics of Parkinson’s disease. This past December we had meetings with the National Institutes of Health, FasterCures, pharmaceutical companies and several key Parkinson’s geneticists to discuss our research. The feedback was unequivocally positive. We are thrilled by the progress we’ve made and wanted to make sure to publicly share some of our most significant accomplishments to date, as well as a preview of what is to come.

So far, more than 3,500 people with Parkinson’s disease from 49 U.S. states and 17 countries have submitted saliva samples for genetic analysis and carefully answered more than 30,000 online surveys to help with our research. Our genetic database now includes many important subgroups of Parkinson’s patients, each presenting a tremendous opportunity for current and future research. These include a large group of people with early-onset Parkinson’s (≤50 years old at diagnosis), carriers of extremely rare mutations that are known to strongly predispose a person for the disease, and people with a family history of Parkinson’s with no known cause. We’ve also had an incredible response from our other communities: more than 8,000 people without Parkinson’s have taken our Parkinson’s surveys so that they can be included in our studies as crucial control subjects.

An important aspect of research at 23andMe, one that distinguishes us from many other research programs, is the way we collect information about the health, activities and environment of our participants.  Traditional methods of data collection — for example, using an existing medical record or a meeting between a researcher and each participant — can be costly, time-consuming and limit the number of people willing and able to participate.  In contrast, 23andMe utilizes simple online surveys that can be completed anywhere at anytime.  This allows people from all over the world to easily participate in our research on an on-going basis. Because this is a new way of collecting data, we’ve taken special care to make sure that the information we collect is accurate.  Careful analysis has indicated that the survey answers our participants have been providing are of very high quality.

How can we tell? Well, one example is that we’ve independently identified many of the same genetic markers previously found by other Parkinson’s researchers.  Even the magnitude of the effects we’ve found are similar to what other research groups have seen.  For example, the published literature has shown that each copy of a G at SNP rs393152 near the MAPT gene reduces the odds of Parkinson’s by 0.23 times. This is very similar to what we’ve seen in our data: we found that each G reduced the odds of Parkinson’s by 0.21 times. Each G at rs2736990 near the SNCA gene has been shown to increase the odds of Parkinson’s by 1.23 times. We found an increase of 1.28 times for each G . In addition, we’ve also replicated the known associations between the LRRK2 and GBA genes and Parkinson’s. All of these results are important and exciting evidence that our revolutionary new way of conducting research is a viable alternative to traditional methods.

(23andMe Complete Edition customers can use the links above to see their own data for the discussed SNPs.)

Thanks to the detailed information that has been contributed by everyone participating in the 23andMe Parkinson’s community, we’ve also been able to verify some things about Parkinson’s that aren’t genetic. For example, we see that LRRK2 G2019S carriers who have Parkinson’s disease show fewer symptoms than other patients when adjusted for duration of the disease, age of onset, and sex. This is similar to the result in a paper published by other researchers in the journal Lancet Neurology in 2008. The survey answers we’ve collected are also able to divide our participants into the classically observed  tremor dominant and postural instability gait difficulty (PIGD) subtypes of Parkinson’s. These and other similar results provide further support for our web-based paradigm for conducting clinical research.  We are currently working with the Parkinson’s Institute, with funding from the Michael J. Fox Foundation, on a long term project to formally show that Parkinson’s disease data collected online is as good as data collected in a clinical setting.

We’re very excited about the possibilities of the data we’ve collected from the Parkinson’s Disease Research Initiative. We’re in the process of writing up some of the results we’ve shared here, along with some others, and will soon submit papers on Parkinson’s Disease genetics to peer-reviewed scientific journals.

Also in store for the year ahead: continued recruitment, new research surveys, cutting-edge and exploratory data analysis techniques and new research collaborations. We’ll be sure to keep sharing our progress.

We would also like to express our thanks for the support and outreach efforts of several organizations. Since our launch we’ve been honored to work with the Michael J. Fox Foundation and The Parkinson’s Institute and Clinical Center. Over the last year we have been thrilled to add the support of The National Parkinson Foundation, PatientsLikeMe, The Northwest Parkinson’s Foundation and The Cure Parkinson’s Trust, among others.

Speaking of outreach, it’s not too late to join in our efforts and help us make even more discoveries.  If you have been diagnosed with Parkinson’s disease, all it takes to join our research initiative is $25, a small saliva sample and the ability to answer online surveys. Learn more and request a discount code here: https://www.23andme.com/pd/.

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Chia, a former organic chemist who is happy to be out of the lab after a ten-year stint in front of a bench, is the Community Manager at 23andMe. What does this mean, you ask? Well, it’s a cross between a den mother, grassroots PR person, customer service agent, brand evangelist and community advocate. This position grew out of the early days of the internet, when the nominal leaders of a group were known as Sysops or more recently, moderators of a forum. Chia has been a passionate advocate for using the internet to bring people together since the early days of online communities using BBS (Bulletin Board System)in the late 80’s and early 90’s.

You can find Chia on Twitter.

Chia on the 23andMe Service:
“I found out some very interesting information about my ancestry that I never suspected. My maternal haplogroup is not found in Han Chinese, but is instead common in a small minority group called the Daic that lives in southeastern China. Other common places my haplogroup, F, is found are Thailand, Vietnam, Indonesia and neighboring islands. I haven’t had the heart to tell my extended family as they have always been proud to be Han Chinese.”

“I also found out that I’m a slow caffeine metabolizer, which is not surprising. I was banned from having coffee at another start-up I worked at because I would buzz around the office for hours like a hummingbird after one cup. I have figured out that I can’t have caffeinated tea or coffee after 11 am unless I want to be up until 3 am, sorting my sock drawer.”

Chia on Being a 23andMe Employee:
“I’m the first community manager and I feel very lucky to be able to remember my scientific training but at the same time be part of a biotechnology revolution. It’s great to be able to help people understand what 23andMe is!”

Think you’d like to join our team? Check out our jobs page!

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To send a message, simply visit a person’s Member Profile page by searching for them, or clicking their name or picture where it appears in a Community discussion or in your list of connections. If someone else sends you a message you’ll find it in your Inbox, which can be found under “Account” on the left-hand side of the screen. You can reply to messages directly from your 23andMe Inbox.

You’ll also find occasional messages in your Inbox from the 23andMe Team, letting you know about new features and reminding you to take action on things like pending invitations and account settings.

We are very excited to provide our users with a platform for one-on-one dialogue on the site and are continuously working to improve your experience with our service. If you have any questions or comments, please don’t hesitate to contact us at help@23andme.com.

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