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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It’s been an exciting seven months since we launched 23andWe, the arm of 23andMe that gives people an unprecedented opportunity to collaborate with us on cutting-edge genetic research. Since May, the amount of data we’ve collected has grown at a fast and furious pace. For those of us who are used to the difficult and painfully slow accumulation of data in academic research projects, this information explosion has been nothing short of amazing.

From our first baby steps with “Ten Things About You” in May, to our three latest surveys — “Health Habits,” “Where Are You From?” and “What Do You Do?” — 23andWe has undergone some serious evolution. Almost every month, we have published more surveys and developed more features to help make the survey-taking experience simpler, more interesting, and more rewarding. We want to make it easy for our customers to provide truthful, good quality data, as that is the first and most important step towards doing high quality research. A big thank you to all our survey takers—we pledge to constantly work on improving this feature so we can keep you coming back for more.

We’re starting to look at genetic associations with the traits we ask about in our surveys, and we expect to have some exciting ones to report soon. But we’ve already learned some interesting things just by looking at the survey responses themselves. For example, while a few sources suggest that a higher percentage of men are left-handed than women, our data so far suggest that once you control for age this is not the case. It seems like our society is becoming more accepting of us female lefties! We’ve also seen that handedness does indeed significantly correlate with footedness. That is, left-handers are more likely to be left-footed, and right-handers are more likely to be right-footed. Similarly, handedness significantly correlates with ocular dominance, as left-handers are more likely to be left-eye dominant, and right-handers are more likely to be right-eye dominant.

And proving mom right once and for all, we’ve found that a sweet tooth does lead to more cavities. After controlling for sex and age, you’re more likely to report having many cavities (as opposed to few or none) if you reach for either something sweet or something sweet and salty when it’s time for a snack.

How is this kind of information going to usher in the era of personalized medicine? Handedness may seem like a relatively trivial trait, but it is correlated with risk for learning disability, schizophrenia, exceptional mathematical talent and other relevant traits. Understanding the biological underpinnings of what makes us choose one hand over the other for all our most delicate tasks may help us better understand the basis for these other complex traits.

As 23andWe matures we plan to start focusing more directly on health-related traits. Look for surveys in the very near future that ask about various medical conditions whose genetics is not yet understood. By combining the information customers provide in their survey responses with data from our custom chip, we can look throughout the genome for DNA variations linked to many different traits. This method can help us find genes that no one thought would be involved with a particular condition. For example, genome-wide studies on age-related macular degeneration (a leading cause of blindness) recently surprised researchers by identifying associations with genes that make components of the innate immune system. This gave scientists a whole new pathway in which to search for treatments.

We can’t guarantee that we’ll find something useful or interesting with every analysis that we do; science is a game you have to play a lot of times in order to win. But we can guarantee that we will strive to do the best research and that we will share our findings with the scientific community. By contributing to the body of knowledge on human genetics, we believe we can help bring the dream of personalized medicine a few steps closer to reality.

And all we need you to do is take some surveys.

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Since 23andWe debuted in May, we’ve asked our customers about all sorts of things: their hair color, earwax consistency, whether they tend to look on life’s bright side. Sometimes people have been surprised to learn that something like your susceptibility to motion sickness — or even which way the hair swirls on top of your head — may be influenced by genetics.

Now we’re introducing three new surveys that ask our customers a few more thought-provoking questions that could help science understand more about genetics:

1. Our new ancestry survey, “Where are You From?” inquires about the birthplaces of our customers, their parents and grandparents. We’re hoping the survey can help us do an even better job of correlating peoples’ genetics to their ancestral homelands. It could also help us address questions geneticists have had little opportunity to ask in the past, such as how regional genetic differences within the United States may reflect the different ethnic backgrounds of the people who settled in the country. And finally, recent papers such as this one suggest that ancestry information can be vital to any study that tries to associate genes and traits.
2. Our second survey, “Health Habits,” asks about things like exercise, diet, smoking and drug use. It’s not that we want to determine whether there are genetic influences on whether a person smokes (though there probably are) so much as we’d like to know these things so we can see if they are more likely than genetics to account for the way people respond to certain surveys.
3. Researchers often struggle to distinguish between the contributions of nature and nurture when they study things like personality, IQ and athletic ability. Our final new survey — “What Do You Do?” — tries to account for some elements on the nurture side of the gene-environment equation.

These new surveys are a little different from some of the ones our customers have already taken. They’re not going to tell you if you’re less optimistic than average, or whether your tendency to sneeze in bright sunlight makes you a freak of nature (It doesn’t). But they’re just as critical to helping us reach our goal of advancing genetic research. So if you’re a 23andMe customer, we invite you to visit 23andWe and take our latest surveys. And if you haven’t joined the 23andMe community yet, we invite you to read more about 23andWe on our public site.

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