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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Leprosy is a chronic, disabling disease caused by a bacterium (Mycobacterium leprae) that infects only humans and armadillos. The disease affects the skin and peripheral nerves, leading to sores, numbness in the limbs, muscle weakness, and, in severe cases, disfiguring nodules on the skin. Known since biblical times, leprosy was highly stigmatized until the latter part of the 19^th century, when the Norwegian doctor Gerhard Hansen discovered that it was caused by a microorganism.

Although multi-drug therapy has cured millions of people of leprosy in recent decades, hundreds of thousands of new cases still occur per year, mostly in developing countries. Finding a way to eradicate the disease is therefore considered important for reducing the number of preventable disabilities worldwide.

Because Mycobacterium leprae is specific to humans and cannot be grown in lab dishes, research into factors influencing disease susceptibility and clinical outcomes has been limited. But the host environment as well as the bacterium itself can affect the course of the disease; in other words, human genetic factors may play an important role in determining who is more susceptible to infection. Since leprosy has been shown to cluster in families, scientists suspect that much of the variability in disease susceptibility and symptoms stems from diversity in individual human immune systems rather than differences between and within strains of the bacteria.

In a new study published today in New England Journal of Medicine, a team of researchers reports new human genetic factors associated with susceptibility to leprosy in Asians. Led by Fu-Ren Zhang of the Shangdong Academy of Medical Sciences in China and Jian-Jun Liu of the Genome Institute of Singapore, the scientists tested 93 variants across an estimated 50 genes in 3254 Chinese individuals with leprosy and 5955 Chinese individuals without the condition. Their analysis identified variants in seven of these genes to be significantly associated with leprosy.

“The discovery of these genes is a major breakthrough for research in leprosy and infectious diseases in general, and will be significant in the early diagnosis and development of new treatments,” said Dr. Liu in a press release.

The strongest of the associations were rs602875 in HLA-DR-DQ, rs3764147 in C13orf31, and rs9302752 in NOD2. In addition, some of the genetic variants were more strongly associated with a form of leprosy that results in more severe symptoms, known as the multibacillary form. These included rs9302752 in NOD2 and the variant rs1491938 in LRRK2.

(23andMe Complete Edition customers can check their data for SNPs reported in this study using the Browse Raw Data feature. See table at the end of this post.)

Altogether, five of the seven genes identified in the study could be shown to interact biologically in the context of immune response to infection. Two of these five genes, NOD2 and TNFSF15, harbor genetic variants that are also associated with Crohn’s disease (see 23andMe’s report on this condition). Crohn’s manifests some common features with leprosy at the cellular level and other researchers have suggested that mycobacterial infection may be a risk factor for Crohn’s. The findings reported by Zhang and Liu and their colleagues provide additional evidence for shared disease mechanisms between Crohn’s disease and leprosy and may increase the range of treatment options for both conditions.

Variants significantly associated with leprosy in individuals of Asian ancestry

* As reported on the 23andMe website through the Browse Raw Data feature.

** Effect only applicable to the multibacillary form of leprosy. LRRK2 is better known as a susceptibility gene for Parkinson’s disease (see 23andMe’s report on this condition). Interestingly, PARK2, another gene linked to Parkinson’s, was associated with leprosy in earlier studies. The reason for the connection between Parkinson’s and leprosy is unclear, though researchers have speculated that some of the same treatments may be effective for both conditions.

SNPwatch gives you the latest news about research linking various traits and conditions to individual genetic variations. These studies are exciting because they offer a glimpse into how genetics may affect our bodies and health; but in most cases, more work is needed before this research can provide information of value to individuals. For that reason it is important to remember that like all information we provide, the studies we describe in SNPwatch are for research and educational purposes only. SNPwatch is not intended to be a substitute for professional medical advice; you should always seek the advice of your physician or other appropriate healthcare professional with any questions you may have regarding diagnosis, cure, treatment or prevention of any disease or other medical condition.

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More than a million Americans have Parkinson’s disease, and another 50,000 are diagnosed each year. Scientists know that many of the characteristic symptoms of Parkinson’s — tremors, rigid muscles and movement problems — can be traced back to the loss of dopamine-producing brain cells.  But what researchers don’t fully understand is why these cells are damaged in the first place.

For most cases of Parkinson’s, the brain cell damage is probably the result of  complex interactions between multiple genetic and environmental factors.  Despite years of work, however, hardly any of these factors are known.  But now two research groups have identified several genetic variants associated with the risk of Parkinson’s in Asian and Caucasian populations.  Their results were published online this week in the journal Nature Genetics.

One group, led by Wataru Satake, analyzed the DNA of 2,011 Japanese people with Parkinson’s disease and 18,381 controls.  The other group, made up of U.S. and German researchers (Simón-Sánchez et al.), looked at the genetics of 5,074 Caucasians with Parkinson’s and 8,551 without the disease.

Common variations in and around two genes previously associated with rare familial forms of Parkinson’s disease, SNCA and LRRK2, were associated with the risk for Parkinson’s in the Japanese study.  In the Caucasian study, the association with SNCA was strong, but the evidence for an association between Parkinson’s and common variation near LRRK2 was only suggestive.  Given that the association of mutations in this gene with familial forms of Parkinson’s is so strong, Simón-Sánchez et al. nevertheless think that there truly is a role for SNPs near this gene in non-familial forms of the disease.

(See the table at the end of this post information on all SNPs.)

Satake et al. also found that variations in a region of the genome not previously linked to Parkinson’s disease could affect risk for the disease.  This region of chromosome 1 contains several genes, and it is not yet clear which one might be involved in Parkinson’s.  Satake et al. named the region PARK16.  After comparing their data, the U.S./German group also found a link between Parkinson’s disease and the PARK16 region.

A SNP in the BST1 gene was associated with increased risk for Parkinson’s in the Japanese sample, but did not show any link to the disease in the Caucasian sample.  The risk version of this SNP, however, is found at very low levels in Caucasians.  This may have been why Simón-Sánchez et al. were unable to pick it up in their analysis.

Finally, a SNP in the MAPT gene, which has also been associated with familial forms of Parkinson’s, was associated with disease risk in the Caucasian sample, but not in the Japanese.

Work to find common genetic variations affecting the risk for Parkinson’s will no doubt continue as researchers try to identify all of the puzzle pieces relevant to this devastating disease and how they fit together.

“A further increase in the number and size of cohorts for [genomewide association studies] in [Parkinson's disease] will likely reveal additional common genetic risk loci and these, in turn will improve understanding and, ultimately, treatment of this devastating disorder,” conclude Simón-Sánchez et al.

SNPwatch gives you the latest news about research linking various traits and conditions to individual genetic variations. These studies are exciting because they offer a glimpse into how genetics may affect our bodies and health; but in most cases, more work is needed before this research can provide information of value to individuals. For that reason it is important to remember that like all information we provide, the studies we describe in SNPwatch are for research and educational purposes only. SNPwatch is not intended to be a substitute for professional medical advice; you should always seek the advice of your physician or other appropriate healthcare professional with any questions you may have regarding diagnosis, cure, treatment or prevention of any disease or other medical condition.

Although variations in the some of the same genes were found in both the Caucasian and Japanese samples, the same SNPs often do not apply to the different populations. People looking up their own data should use the SNPs listed for the ethnicity they identify most closely with.

*Risk version is more common version of SNP.
**Results did not meet strict cut offs for statistical significance, but researchers suggest the associations are nonetheless real.

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“But we always go there!”

And so begins another Friday night.  When it comes to choosing where to go to dinner, my husband likes to stick with the tried and true. I like trying out new places.

A new study suggests that the roots of this conflict could spring partly from our genes. It suggests that a DNA variation affecting the neurotransmitter dopamine influence a person’s willingness to explore new options instead of sticking with the status quo.

The finding comes from a study by Michael Frank and colleagues from Brown University and the University of Arizona. The researchers focused on how people learn from positive and negative feedback. Subjects were confronted with a clock face that counted down five seconds.  Before time was up they had to push a button to receive points.  In some trials, the experiment was set up so that the faster they pushed the button, the more points they got. In other trials, waiting longer got more points.

To the researchers’ surprise, people showed wide swings in response speed within each type of trial as they adjusted their timing in an attempt to maximize their scores. Computer models showed that a likely reason for these swings is that people change their strategy (pressing the button faster or slower) in proportion to how uncertain they are that a new strategy (speeding up or slowing down from what they’ve been doing) will yield better results.

It makes sense: If you think a new restaurant might be only marginally better than the one you usually go to (and could be worse), you’re probably not that likely to vary from the usual routine. Why risk it?

But if you really have no idea how good a place might be – who knows, it could blow your mind — you’d probably be more inclined to give it a whirl.

Further analysis of the data, which will appear in the August issue of Nature Neuroscience, showed that the extent to which a person tried out new strategies correlated with variations in the COMT gene. People who carried the “Met” version of the gene were more exploratory in the face of uncertainty about what strategy to try next than people with two copies of the “Val” version (“Met” and “Val” refer to particular amino acids encoded by different versions of the gene).

People with two copies of the Met version were the most adventurous, but even those with only one copy were statistically different in their exploration of new strategies from the people with two copies of the Val version.

(The different versions of the COMT gene are determined by rs4680, which is available to 23andMe customers in the Browse Raw Data feature.  A=Met, G =Val)

The protein encoded by the COMT gene is involved in dopamine signaling in the prefrontal cortex, an area of the brain involved in planning and decision-making.  The Met version of the gene leads to increased dopamine activity in this region and has been linked to more efficient information processing.

So does this explain my date-night drama?  Well, there’s undoubtedly more to it than genes alone, but I do have one copy of the more exploratory Met version of the COMT gene.  And my husband?  Two copies of the stuck-in-a-rut Val version.

Dopamine and Learning
In a region of the brain called the basal ganglia, dopamine helps us internalize positive and negative feedback in order to develop those “gut” feelings of what strategy will work and what won’t.

The effects of dopamine in the basal ganglia have been shown in experiments that use drugs to raise or lower levels of the neurotransmitter in the brain.  Higher dopamine levels help people learn to repeat rewarding behaviors, while lower dopamine leads to better learning from bad experiences.  In a game where “A” usually yields more points than “B,” people with boosted dopamine levels learn to choose A.  People with decreased dopamine levels learn to avoid B.

In non-medicated test subjects, genetic variations that influence dopamine signaling in the basal ganglia also impact so-called “Go” (choose A) and “NoGo” learning (avoid B). People with two copies of the A version of a variant in the DARPP-32 gene, which increases dopamine signaling, tend to be better at Go learning than their G-version-carrying friends.  Those with two copies of A at rs6277 in the DRD2 gene, which decreases dopamine signaling, tend to be better NoGo learners than people with one or two copies of the G version of this SNP.

The clock-and-button experiments Frank et al. conducted further tested the association of these two variants with Go and NoGo learning.  Trials that rewarded faster responses measured Go learning.  Trials that rewarded holding off on the action of button pushing measured NoGo learning. As expected, people with two As at the DARPP-32 variant tended to be better at Go learning than people with one or two Gs, and people with two As at rs6277 in the DRD2 gene were better at NoGo learning than people with AG or GG at this SNP.

(23andMe customers can see their data for rs6277 in the DRD2 gene using the Browse Raw Data feature.  Data for the DARPP-32 variant is not available at this time.)

Parkinson’s Disease Connection
Understanding the role of dopamine in learning from experience may have important implications for treating people with Parkinson’s disease, which is characterized by a loss of dopamine producing neurons in the brain.  Studies have shown that people with Parkinson’s have trouble with Go learning.  It’s thought that the lack of dopamine in their brains prevents the dopamine spikes needed to learn from positive feedback.

This fits with evidence that drugs that increase dopamine help people with Parkinson’s improve their performance on tasks that require Go learning.  But there is a downside:  because they flood the brain with dopamine, the normal dips in signaling that are needed to learn from negative feedback are blocked by these drugs.  This might explain why some people with Parkinson’s disease who take dopamine-increasing medications develop gambling problems – they’re overly attuned to winning, but incapable of learning from their losses.

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We’ve set out to build the world’s largest online PD genetics community, and we’re thrilled to report that more than 2,000 people have enrolled since the initiative was launched last month. Owing to tremendous support from The Parkinson’s Institute and Clinical Center and The Michael J. Fox Foundation, their networks of patients have responded overwhelmingly. Assembling this many participants for traditional research studies usually takes months, if not years, to accomplish — by harnessing the power of the web and the enthusiasm of individuals, 23andMe can dramatically change the pace of research.

This puts us well on the way to our goal of enabling 10,000 individuals to help advance research into the genetics and other aspects of the condition. With this number of participants, we hope to be able to make discoveries about aspects of the causes, progression and treatment of Parkinson’s that smaller studies simply haven’t had the power to detect.

As members of the community, PD patients receive the the 23andMe Personal Genome Service™  for $25 instead of the usual $399. Along with all the benefits of the service, the Parkinson’s community gives members:

• research surveys aimed at gathering each patient’s experience with the disease, including age of onset, rate of progression and response to therapies.
• the opportunity to ask questions and share stories with other members.
• PD-specific reports relating to currently known genetic correlations.

Individuals who have been diagnosed with PD can sign up to participate via the website of the Michael J. Fox Foundation.

Even if you don’t have Parkinson’s, anyone can help with this research by setting up a free 23andMe demo account and taking the Parkinson’s background survey.  And, of course, 23andMe customers are encouraged to join the effort by filling out the survey, too.  Together, we’re changing the pace of research!

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More than a million Americans have Parkinson’s disease, and another 50,000 are diagnosed each year. Scientists know that many of the characteristic symptoms of Parkinson’s — tremors, rigid muscles and movement problems — can be traced back to the loss of dopamine-producing brain cells.

But what researchers don’t fully understand is why these cells are damaged in the first place. There are no clear environmental triggers for Parkinson’s, and in most people with the disease genetics doesn’t seem to play a large role either. It could even be that Parkinson’s is really a number of different diseases, all of which lead to the same end result.

Previous research has ruled out genetics as a major contributor to Parkinson’s risk; it is estimated to play a role in fewer than 10% of cases. But piecing together the genetics of Parkinson’s is an active and promising field, because what scientists learn from that minority of cases could improve their understanding of the disease generally. The holy grail would be to pin down all the ways genes can interact with the environment to produce the symptoms of Parkinson’s.

23andMe is working with the Michael J. Fox Foundation, the Parkinson’s Institute and patients from around the world partly because we want to give individuals with Parkinson’s access to their own genetic data. At the same time, we want to join the continuing quest for those genetic and environmental factors that underlie Parkinson’s disease by combining genetic data from our community with members’ responses to surveys about their health.

By far the most common known genetic cause of Parkinson’s disease is the G2019S mutation, which occurs in a gene called LRRK2. While the average person has a 1-2% chance of developing Parkinson’s, the risk for someone with the G2019S mutation is much higher and increases with age. One recent study found that a person who inherits this mutation from either parent has a 28% chance of developing Parkinson’s by the age of 59, 51% by the age of 69 and 74% by the age of 79.

Even though it is the most common known genetic cause of Parkinson’s disease, the G2019S mutation is responsible for only a small fraction of all cases worldwide — about one or two in a hundred. But in some ethnic groups it is a much more frequent cause of the condition. According to published research, up to 40% of people of North African Arab ancestry and 20% of Ashkenazi Jewish people with Parkinson’s have this mutation.

Another mutation in the LRRK2 gene, referred to as G2385R, has been associated with Parkinson’s disease in several East Asian populations. Analyses of the combined results from several studies indicate that people who inherit this mutation from either parent are at two to three times greater odds of developing Parkinson’s than those who do not carry the mutation. Approximately 9% of Parkinson’s patients with Asian ancestry carry the G2385R mutation.

(23andMe customers can find out if they carry the LRRK2 G2019S mutation in the Parkinson’s Disease Clinical Report. Customers can also find out if they carry the G2385R mutation using the Parkinson’s Disease: Preliminary Research Report.)

Although people who have at least one copy of the LRRK2 G2019S or G2385R mutation have an increased risk of Parkinson’s disease, a substantial proportion of people with these mutations never develop the disease. Very little is known about the function of the protein made by the LRRK2 gene, and no one knows why many people who carry mutations in this gene don’t develop Parkinson’s disease. Adding to the mystery, among those with these mutations who do develop Parkinson’s, not all have the same symptoms. Interactions of these mutations with unknown environmental factors may be part of the explanation. Continuing research into these gene-environment interactions could yield valuable clues into the causes of Parkinson’s generally.

Mutations in several other genes have also been associated with Parkinson’s disease, but these are extremely rare. Many have been found only in one or two families. 23andMe is not able to detect most of these rare mutations.

Other Parkinson’s mutations:

• As is the case for mutations in LRRK2, a person need only inherit a mutation in the alpha-synuclein gene (SNCA, also known as PARK1 or PARK4) from one parent to be at substantial risk for Parkinson’s disease. The average age for disease onset in people with a disease-causing mutation in this gene is 46. The protein encoded by the alpha-synuclein gene is one of the main components of the protein aggregates found in brain cells of people with Parkinson’s disease.
• Mutations in parkin (PARK2), PINK1 (PARK6) and DJ1 (PARK7) are recessive, which means a person must inherit mutated copies of these genes from both parents in order to develop Parkinson’s (there are rare exceptions). Multiple mutations in each of these genes have been identified; some are extremely rare.
• Parkinson’s disease caused by mutations in parkin, PINK1 or DJ1 usually strikes at a young age. Parkin mutations most often lead to disease onset between the ages of 20 and 40, although some people are younger than 10 or older than 60 when they develop symptoms. PINK1 mutations usually cause Parkinson’s between the ages of 32 and 48. DJ1 mutations are associated with an age of onset between 20 and 40 years of age.

This is an exciting time in the history of Parkinson’s research. The genetic aspects of the disease could reveal information that is invaluable in the ongoing search for new treatments, or even a cure. We invite Parkinson’s patients, their families and friends, and anyone who believes in the power of scientific research to change lives to participate in the 23andMe Parkinson’s disease community. Visit the 23andMe Parkinson’s community page to learn more.

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We started 23andMe with a simple, yet expansive, vision: to take DNA into the mainstream.  In order to demystify genetics, we thought the best approach was to give individuals access to their genomes and help them gain personalized insight into their own unique code.  This was our premise when we launched a year and a half ago.  We now have

an expanding community of individuals, armed with their genetic profiles, who are the early adopters of what we believe will become standard practice — having ready access to vitally important information.

We’re now moving into the next phase of our mission:  to provide a wholly new research platform that enables our online community to voluntarily participate in unprecedented genetic studies.  Our approach is new because it leverages the web to bring people together from all over the globe who are willing to share information about their own health experiences (phenotype), which is then combined with their genetic profile (genotype).  This combination, genotype + phenotype, is the same formula that drives genome-wide association studies (GWAS). But ours is a community-centric model that also delivers on-going, valuable feedback to each member.

Scientists have only recently had the ability to conduct GWAS, owing to tremendous advances in the technology platforms that generate the data, as well as spectacular decreases in the cost.  These studies are now yielding compelling results in the examination of many common diseases and are chipping away at the elusive genetic components of conditions such as type 2 diabetes, heart disease and many of the cancers.  These diseases aren’t like single gene disorders (such as Tay-Sachs, cystic fibrosis and sickle cell anemia) in which the genetic story is straightforward.  Most common diseases have complicated genetic as well as environmental components, and teasing out these factors is painstakingly difficult.  This also holds true for the study of genes and drug response (pharmacogenetics), the holy grail of personalized medicine.

One of the biggest challenges in conducting GWAS is identifying large enough cohorts of people with a disease or trait, and then being able to categorize the details of their symptoms and progression.  Combine this with the complexity of multiple genetic factors, each with a relatively small effect but somehow working in concert, and it becomes maddeningly difficult to put two and two together.  This is why these studies require very large numbers of enrolled individuals, to achieve the statistical power required to make any headway.  If researchers are limited to a defined geographic region in which to recruit patients, they often can’t reach the bar.  This often leads to consortia-based projects, where multiple clinical centers combine resources.  The problem with this model is the lack of continuity between the groups, not to mention the power struggles that often ensue: Who writes the grant? Which lab runs the samples? Who controls the rights to the data?  Which institute files and maintains the patents? Who is the lead author on the publication?

Our goal is to greatly simplify the entire process.  By centralizing the recruitment of individuals, the lab work and the collection of phenotypic data, we believe we’ll be able to move beyond traditional hurdles and take GWAS to a whole new level that we’re calling Research 2.0.  We think the study of human disease and drug response deserves the application of 21st century technology, including the use of social networking tools proving so effective in web-based sharing of information à la Facebook and YouTube.

So today we are announcing the first of many studies we plan to undertake.  Parkinson’s disease has all the elements described above:  complicated genetics, hints of environmental triggers, varying rates of progression, differing drug response.  We’re excited, and gratified, to have Sergey Brin’s support, as well as the cooperation of The Parkinson’s Institute and The Michael J. Fox Foundation, in jump-starting the world’s largest study of this disease — involving 10,000 individuals with PD.  Please visit our Parkinson’s Community for more information on this ground-breaking project.

This is just the beginning of our mission to establish a new paradigm that changes the face of research, and focuses on the people rather than the process.

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“It isn’t dramatic.  It’s a disease of inches.”

This is how Dave Iverson describes Parkinson’s disease, the subject of his Frontline report “My father, My Brother, and Me.” The documentary uses his and his family’s experience with the disease as the backdrop for an exploration of current research aimed at understanding what causes Parkinson’s and what can be done to cure it.

In the first segment, Iverson focuses on the relatively new field of Parkinson’s genetics. Just 10 years ago a genetic basis for the disease was not even suspected. But now researchers know of at least six genes that, when mutated, can greatly increase the risk for Parkinson’s.

One of the most common of these mutations, located in a gene called LRRK2, has been traced to several locations, including North Africa, near the ancient site of Carthage, and Iverson’s ancestral home, the northern coast of Norway.

When a researcher tells Iverson that scientists suspect that the LRRK2 mutation spread from North Africa to Norway through the Vikings, who are known to have lived in and around Carthage in about 1000 A.D. Iverson wonders to himself, “Did my own family’s Parkinson’s saga begin a thousand years ago, when some seafaring relative came calling in Carthage?”

(The LRRK2 mutation is also fairly common in people with Ashkenazi Jewish heritage. Google co-founder Sergey Brin carries this mutation and talked about his experience on his blog Too. 23andMe customers can find out if they carry the mutation in the Parkinson’s disease clinical report.)

Iverson’s documentary goes on to delve into the possible environmental contributors to Parkinson’s and some of the potential cures based on stem cells. He also presents the work of several scientists whose research suggests that exercise can help protect the brain from Parkinson’s. He finishes on a hopeful note, musing “we usually think of time as the enemy, but I’ve come to think that time is also an ally. Yes the disease is progressive, but so too is science.”


“My Father, My Brother, and Me” airs tonight at 9 p.m. ET on PBS. Check your local listings.

The full documentary, as well as bonus interviews, Dave Iverson’s blog and links to additional resources can be found here.

A live chat with Iverson will take place immediately after the program airs (10 p.m. ET) and at 11 a.m. ET on Wednesday February 4th at washingtonpost.com.

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Already well-known for expanding technological frontiers, Google co-founder Sergey Brin is now pushing the boundaries of personal genomics with a remarkable post on his new personal blog, TOO.

In the post, Brin shares information from his 23andMe account that indicates he is at substantially increased risk for Parkinson’s Disease. Brin’s mother, who has already been diagnosed with the disease, has the same genetic mutation.

The mutation in question is in a gene known as LRRK2 on chromosome 12. The single-letter change in the DNA code dramatically increases a person’s odds of developing Parkinson’s from one or two in a hundred to as much as eight in 10. One recent study found that a person who inherits the mutation has a 28% chance of developing Parkinson’s by the age of 59, 51% by the age of 69 and 74% by the age of 79.

It’s sobering to hear this news about someone so closely affiliated with our company (Sergey is married to Anne Wojcicki, one of our co-founders). But we’re encouraged too, because Sergey’s post also illustrates the benefit that comes with having access to your genetic information — and the power of sharing it. As Sergey says:

“I now have the opportunity to adjust my life to reduce those odds (e.g. there is evidence that exercise may be protective against Parkinson’s). I also have the opportunity to perform and support research into this disease long before it may affect me. And, regardless of my own health it can help my family members as well as others.”

There are a number of LRRK2 mutations that substantially increase Parkinson’s risk. The one Brin has, which is known as G2019S, is most commonly found among people of Ashkenazi Jewish and North African descent. It has occasionally been found in some non-Jewish European populations, but is virtually unknown in East Asia.

Any customers who want to know their LRRK2 G2019S status now can find out by using the 23andMe Genome Browser to search for their genotype at the SNP rs34637584. Having one or two copies of the A version of this SNP substantially increases a person’s chances of developing Parkinson’s Disease.

Our upcoming Parkinson’s Disease entry will offer much more complete information about the significance of having or not having the G2019S mutation. In the coming weeks and months we plan to provide much more information about Parkinson’s and many other diseases, conditions and traits that are affected by genetics. We hope that like Sergey, you’ll want to join us on this exploration of the genetic frontier.

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