23andMe Parkinson’s Research Initiative Progress Update

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/.


  • Margaret Slighton

    Hi,
    I was diagnosed with “Parkinsonianism” in 2006, and am still doing pretty well with Carba-dopa. Water exercises every other day probably helps.
    Margaret

  • George Hisert

    I am a Parkinson’s patient and joined 23 and me at the reduced cost of $25. My daughter is a doctor and has followed the research in the area. She believes that the database of genetic material on Parkinson’s would be greatly enhanced by extending the $25 entry fee to immediate family members, particularly children of Parkinson’s patients.. Are children already extended the $25 entry fee? If not, why not?

    • http://23andme.com Shwu

      Hi George,

      Thanks for reading and for your participation in the Parkinson’s research community. Our current funding agreement is devoted to enrolling 10,000 Parkinson’s patients and we do not have the ability to extend participation to family members without the disease. We do agree that having additional data on family members would be useful and should we get additional funding we would certainly consider this.

      Note also that participation for individuals with Parkinson’s disease is now free due to decreased technology costs, so we encourage you to continue spreading the word to those you know with the condition to join in the research!

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