<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2009/03/350x285.png" alt="" title="350x285" width="350" height="285" class="alignright size-full wp-image-3088" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/03/350x285.png 350w, https://blogcms.23andme.com/wp-content/uploads/2009/03/350x285-300x244.png 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
We&#8217;ve set out to build the world&#8217;s largest online PD genetics community, and we&#8217;re thrilled to report that more than 2,000 people have enrolled &nbsp;since the initiative was launched last month. Owing to tremendous support from <a href="http://thepi.org" target="_blank" rel="noopener noreferrer">The Parkinson&#8217;s Institute</a> and Clinical Center and <a href="http://www.michaeljfox.org/" target="_blank" rel="noopener noreferrer">The Michael J. Fox Foundation</a>, 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&#8217;s that smaller studies simply haven&#8217;t had the power to detect.
As members of the community, PD patients receive the the 23andMe Personal Genome Serviceâ„¢ &nbsp; for $25 instead of the usual $399. Along with all the <a href="https://www.23andme.com/howitworks/" target="_blank" rel="noopener noreferrer">benefits</a> of the service, the Parkinson&#8217;s community gives members:
<ul>
<li>research surveys aimed at gathering each patient&#8217;s experience with the disease, including age of onset, rate of progression and response to therapies.</li>
<li>the opportunity to ask questions and share stories with other members.</li>
<li>PD-specific reports relating to currently known genetic correlations.</li>
</ul>
Individuals who have been diagnosed with PD can sign up to participate via the website of the &nbsp;Michael J. Fox Foundation.
Even if you don&#8217;t have Parkinson&#8217;s, anyone can help with this research by setting up a free &nbsp;<a href="https://www.23andme.com/user/signup/" target="_self" rel="noopener noreferrer">23andMe demo account</a> and taking the Parkinson&#8217;s background survey. &nbsp;And, of course, 23andMe customers are encouraged to join the effort by filling out the survey, too. &nbsp;Together, we&#8217;re changing the pace of research!

23andMe Blog

23andMe Blog Team

On Our Way to 10,000: 23andMe Welcomes First Members of Parkinson’s Disease Community

<img loading="lazy" decoding="async" class="alignright size-full wp-image-3133" title="parkinsonsdisease" src="https://blog-api.23andme.com/wp-content/uploads/2009/03/parkinsonsdisease.jpg" alt="" width="260" height="236" />PET scans showing dopamine activity in a normal brain and a Parkinson&#8217;s patient&#8217;s before and after treatment with a therapeutic implant.
More than a million Americans have Parkinson&#8217;s disease, and another 50,000 are diagnosed each year. Scientists know that many of the characteristic symptoms of Parkinson&#8217;s – tremors, rigid muscles and movement problems – can be traced back to the loss of dopamine-producing brain cells.
But what researchers don&#8217;t fully understand is why these cells are damaged in the first place. There are no clear environmental triggers for Parkinson&#8217;s, and in most people with the disease genetics doesn&#8217;t seem to play a large role either. It could even be that Parkinson&#8217;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&#8217;s risk; it is estimated to play a role in fewer than 10% of cases. But piecing together the genetics of Parkinson&#8217;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&#8217;s.

23andMe is working with the <a href="http://www.michaeljfox.org/" target="_blank" rel="noopener">Michael J. Fox Foundation</a>, the <a href="http://www.thepi.org/" target="_blank" rel="noopener">Parkinson&#8217;s Institute</a> and patients from around the world partly because we want to give individuals with Parkinson&#8217;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&#8217;s disease by combining genetic data from our community with members&#8217; responses to surveys about their health.
By far the most common known genetic cause of Parkinson&#8217;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&#8217;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&#8217;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&#8217;s than those who do not carry the mutation. Approximately 9% of Parkinson&#8217;s patients with Asian ancestry carry the G2385R mutation.
(23andMe customers can find out if they carry the LRRK2 G2019S mutation in the Parkinson&#8217;s Disease Clinical Report. Customers can also find out if they carry the G2385R mutation using the Parkinson&#8217;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&#8217;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&#8217;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:
<ul>
<li>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&#8217;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&#8217;s disease.</li>
<li>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&#8217;s (there are rare exceptions). Multiple mutations in each of these genes have been identified; some are extremely rare.</li>
<li>Parkinson&#8217;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&#8217;s between the ages of 32 and 48. DJ1 mutations are associated with an age of onset between 20 and 40 years of age.</li>
</ul>
This is an exciting time in the history of Parkinson&#8217;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&#8217;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&#8217;s disease community. Visit the 23andMe Parkinson&#8217;s community page to learn more.

Understanding The Genetics of Parkinson’s Disease: A Work In Progress

By 23andMe Co-Founders Linda Avey and Anne Wojcicki
We started 23andMe with a simple, yet expansive, vision: to take DNA into the mainstream. &nbsp;
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. &nbsp; This was our premise when we launched a year and a half ago. &nbsp; We now have
<img loading="lazy" decoding="async" class="alignright size-full wp-image-3091" title="pd" src="https://blog-api.23andme.com/wp-content/uploads/2009/03/pd.png" alt="" width="315" height="256" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/03/pd.png 315w, https://blogcms.23andme.com/wp-content/uploads/2009/03/pd-300x244.png 300w" sizes="auto, (max-width: 315px) 100vw, 315px" />
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&#8217;re now moving into the next phase of our mission: &nbsp; to provide a wholly new research platform that enables our online community to voluntarily participate in unprecedented genetic studies. &nbsp;
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). &nbsp; This combination, genotype + phenotype, is &nbsp;the same formula that drives genome-wide association studies (GWAS). &nbsp;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. &nbsp; These studies are now yielding compelling results in the examination of many common diseases and are chipping away at the elusive genetic components of &nbsp;conditions such as type 2 diabetes, heart disease and many of the cancers. &nbsp;
These diseases aren&#8217;t like single gene disorders (such as Tay-Sachs, cystic fibrosis and sickle cell anemia) in which the genetic story is straightforward. &nbsp; Most common diseases have complicated genetic as well as environmental components, and teasing out these factors is painstakingly difficult. &nbsp; 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. &nbsp; 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. &nbsp;
This is why these studies require very large numbers of enrolled individuals, to achieve the statistical power required to make any headway. &nbsp; If researchers are limited to a defined geographic region in which to recruit patients, they often can&#8217;t reach the bar. &nbsp; This often leads to consortia-based projects, where multiple clinical centers combine resources. &nbsp; 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? &nbsp; Which institute files and maintains the patents? Who is the lead author on the publication? Our goal is to greatly simplify the entire process. &nbsp;
By centralizing the recruitment of individuals, the lab work and the collection of phenotypic data, we believe we&#8217;ll be able to move beyond traditional hurdles and take GWAS to a whole new level that we&#8217;re calling Research 2.0. &nbsp; 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 a&nbsp; la Facebook and YouTube.
So today we are announcing the first of many studies we plan to undertake. &nbsp; Parkinson&#8217;s disease has all the elements described above: &nbsp; complicated genetics, hints of environmental triggers, varying rates of progression, differing drug response. &nbsp; We&#8217;re excited, and gratified, to have Sergey Brin&#8217;s support, as well as the cooperation of <a href="http://www.thepi.org" target="_blank" rel="noopener">The Parkinson&#8217;s Institute</a> and <a href="http://www.michaeljfox.org/" target="_blank" rel="noopener">The Michael J. Fox Foundation</a>, in jump-starting the world&#8217;s largest study of this disease – involving 10,000 individuals with PD. &nbsp;
Please visit our Parkinson&#8217;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.

Linda Avey

A New Approach to Research: The 23andMe Parkinson’s Disease Initiative

Tonight on Frontline: My Father, My Brother, and Me

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, <a href="http://too.blogspot.com">TOO</a>.
In the post, Brin shares information from his 23andMe account that indicates he is at substantially increased risk for Parkinson&#8217;s Disease. Brin&#8217;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&#8217;s odds of developing Parkinson&#8217;s from one or two in a hundred to as much as eight in 10.
One recent <a href="http://www.thelancet.com/journals/laneur/article/PIIS1474442208701170/abstract" target="_blank" rel="noopener">study</a> found that a person who inherits the mutation has a 28% chance of developing Parkinson&#8217;s by the age of 59, 51% by the age of 69 and 74% by the age of 79.
It&#8217;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&#8217;re encouraged too, because Sergey&#8217;s post also illustrates the benefit that comes with having access to your genetic information – and the power of sharing it. As Sergey says: 

<blockquote>&#8220;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&#8217;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.&#8221;</blockquote>
There are a number of LRRK2 mutations that substantially increase Parkinson&#8217;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 <a href="https://www.23andme.com/you/explorer/">Genome Browser</a> to search for their genotype at the SNP .
Having one or two copies of the A version of this SNP substantially increases a person&#8217;s chances of developing Parkinson&#8217;s Disease. Our upcoming Parkinson&#8217;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&#8217;s and many other diseases, conditions and traits that are affected by genetics. We hope that like Sergey, you&#8217;ll want to join us on this exploration of the genetic frontier.

A image of double helix showing a variant

Parkinson's Disease — Page 10

On Our Way to 10,000: 23andMe Welcomes First Members of Parkinson’s Disease Community

Understanding The Genetics of Parkinson’s Disease: A Work In Progress

A New Approach to Research: The 23andMe Parkinson’s Disease Initiative

Tonight on Frontline: My Father, My Brother, and Me

Google Co-Founder Blogs About 23andMe Data, Parkinson’s Risk

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