A new study involving participants in <a href="https://www.23andme.com/pd/" target="_blank" rel="noopener noreferrer">23andMe’s Parkinson’s Disease Community,</a> offers hope for the future of telemedicine and the ability of clinicians to quickly and accurately assess and recruit patients for research and clinical trials. 
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-22634" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/Parkinsons-Research-Community-300x112.jpg" alt="Parkinson's Research Community" width="300" height="112" />


This is particularly good news for patients far removed from medical research hubs or who have a debilitating condition, like Parkinson’s, that can make travel difficult if not impossible.
Lead author of the paper, <a href="https://www.urmc.rochester.edu/people/26764214-e-ray-dorsey/researchers" target="_blank" rel="noopener noreferrer">Ray Dorsey at University of Rochester</a>, said he has always been optimistic regarding the effectiveness of telemedicine and self-assessment, but he was pleasantly surprised by how well it worked in this study.


While studies have looked at “remote assessment” for clinical evaluations or probed the ability of people to self-assess their symptoms using such tools as 23andMe’s self-reported data, <a href="http://dhj.sagepub.com/content/1/2055207615592998" target="_blank" rel="noopener noreferrer">this study</a>, published in the journal Digital Health, looks at both. 
23andMe has the world’s largest cohort of genotyped Parkinson’s patients and depends in part on self-assessment in collecting data for research.
Although it was a small study, the work offers a glimpse at how these two important processes – self-assessment and remote assessment – could work together to streamline recruitment for research, making it more affordable, faster and less onerous on participants. More than three-quarters of participants in this study completed a post-assessment survey, and 87 percent said they would be more or much more willing to participate in future clinical trials if they could do it remotely.
<img loading="lazy" decoding="async" class="alignright wp-image-22641 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/@PITER-23andMe-EmilyDrabant-19-200x300.jpg" alt="@PITER-23andMe-EmilyDrabant-19" width="200" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/06/@PITER-23andMe-EmilyDrabant-19-200x300.jpg 200w, https://blogcms.23andme.com/wp-content/uploads/2015/06/@PITER-23andMe-EmilyDrabant-19-768x1152.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/06/@PITER-23andMe-EmilyDrabant-19-683x1024.jpg 683w, https://blogcms.23andme.com/wp-content/uploads/2015/06/@PITER-23andMe-EmilyDrabant-19-587x880.jpg 587w, https://blogcms.23andme.com/wp-content/uploads/2015/06/@PITER-23andMe-EmilyDrabant-19-787x1180.jpg 787w, https://blogcms.23andme.com/wp-content/uploads/2015/06/@PITER-23andMe-EmilyDrabant-19-scaled.jpg 1707w" sizes="auto, (max-width: 200px) 100vw, 200px" />
“This approach lays the foundation for larger scale, broader scope studies that can target genetic sub-populations of different disorders and foster partnerships between consumer genetics companies, pharmaceutical firms, academic institutions, and patient communities,” according to the paper.
Co-author Emily Drabant Conley, PhD, director of 23andMe’s business development, said this study offers a test case for some of the work 23andMe has already been doing in certain disease communities. Emily, who spent several years working directly with the Parkinson’s community, said she’s most excited by how this approach could be applied to other conditions being studied by 23andMe researchers.
“This study extends these disruptive models for clinical research,” Emily said. “It lays the foundation for expanding participation in clinical research by leveraging genotype data for patient selection and remote assessment to make participation more convenient.”

23andMe Blog

23andMe Blog Team

Virtual doctor’s visit and genetic testing for Parkinson’s disease

Things aren’t always as they seem with Parkinson’s disease with one recent study showing as many as half those diagnosed with the disease don’t have it, according Dr. J. William Langston.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-12362" src="https://blog-api.23andme.com/wp-content/uploads/2012/04/Langston-252x300.jpg" alt="Langston" width="252" height="300" />
At a recent visit to 23andMe, Langston, a pioneering Parkinson’s researcher as well as the founder and chief science officer of the <a href="http://www.thepi.org/" target="_blank" rel="noopener noreferrer">Parkinson’s Institute</a>, gave a quick overview not just of the challenges around diagnosing the disease but also some of the more hopeful recent findings.
Both a friend of 23andMe and a scientific advisor for 23andMe’s <a href="https://www.23andme.com/pd/#section4" target="_blank" rel="noopener noreferrer">Parkinson’s research community</a>, Langston’s presentation offered scientists here a quick overview of the shifting understanding of Parkinson’s.
The traditional view is that Parkinson’s is a movement disorder triggered by a loss of dopamine containing neurons in the substantia nigra, a particular region of the brainstem. But because diagnosis is so difficult, sometimes people with Parkinson’s-like symptoms are misdiagnosed with the disease itself.
In truth, a definitive diagnosis for the disease requires a post-mortem examination to confirm the presence of abnormal protein deposits in the brainstem called “Lewy bodies.” These clumps are loaded with a protein called alpha-synuclein. One promising development in the effort for diagnosis are new techniques for detecting alpha-synuclein, and related structures known as neurites. What’s also been interesting is that scientists have found alpha-synuclein deposits not just in the brainstem, but in other regions of the brain as well as the gut and heart. These same regions may be associated with non-motor symptoms that Parkinson’s patients deal with including such things as a change in their sense of smell, constipation or sleep disturbances.
Like many diseases, the earlier it is diagnosed the better the outcome for patients. Even though there is no cure for Parkinson’s there are treatments and interventions that can manage some of the symptoms and help patients maintain their quality of life. But diagnosis – especially early on – is very poor.
To illustrate that point, Langston, who has been a long time scientific adviser to 23andMe Parkinson’s research community, cited a recent study showing about half of the cases were misdiagnosed. The study was of patients who’d died within five years of being diagnosed with Parkinson’s, but autopsies of the patients revealed that about 50 percent didn’t have the disease. This has enormous implications for research especially clinical trials of disease modifying therapies, which need to recruit patients early in the disease process.
An extensive review of Parkinson’s disease genetics that Langston and his collaborators recently submitted for publication suggests that this confusion is not limited to clinical diagnosis. Looking at 31 different genetic markers associated with inherited Parkinson’s, his team found that only three have been shown to also be associated with the classic pathological features of Parkinson’s. In addition, researchers have found in doing autopsy on patients that even those who share the same genetic marker (one associated with Parkinson’s disease) the kind of protein bodies found in their tissue and where they are found, can be very different.
To try and manage this confusing situation Langston and his colleagues proposed the name  Multisystem Lewy Body Disease (brain, spinal cord and peripheral autonomic nervous system) to better reflect what the researchers have found.
Despite all of this, Langston said that there are promising new diagnostic and treatment tools currently in development.

Parkinson’s Research Challenges

We&#8217;re re-posting <a href="https://www.michaeljfox.org/foundation/news-detail.php?and-with-23andme-parkinson-community-lead" target="_blank" rel="noopener noreferrer">an interview</a> that the Michael J. Fox Foundation did with our very own Paul Cannon, PhD, 23andMe&#8217;s Parkinson&#8217;s Research Community manager. April is Parkinson&#8217;s Awareness Month and this is a nice way to kick it off. <img loading="lazy" decoding="async" class="alignright size-medium wp-image-22379" src="https://blog-api.23andme.com/wp-content/uploads/2015/03/paul_bw-200x300.jpg" alt="paul_bw" width="200" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/03/paul_bw-200x300.jpg 200w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul_bw-768x1152.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul_bw-683x1024.jpg 683w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul_bw-587x880.jpg 587w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul_bw-787x1180.jpg 787w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul_bw-scaled.jpg 1707w" sizes="auto, (max-width: 200px) 100vw, 200px" />
Genetic testing company 23andMe made headlines recently with announcements first of a deal with pharmaceutical company Genentech and then of its own new Therapeutics Group.
The Michael J. Fox Foundation has a long-standing relationship with 23andMe, helping recruit members for its <a href="https://www.23andme.com/pd/" target="_blank" rel="noopener noreferrer">Parkinson’s Community</a> study and collaborating on research projects such as our <a href="https://www.michaeljfox.org/page.html?lrrk2-cohort-consortium" target="_blank" rel="noopener noreferrer">LRRK2 Cohort Consortium</a>.
Paul Cannon, PhD, who leads the 23andMe Parkinson’s Community, spoke with us about the company’s recent news and what it means for Parkinson’s disease (PD) drug development.
<h6>MJFF: What can you tell us about the 23andMe partnership with Genentech?</h6>
Paul Cannon: The deal with Genentech is a collaboration to whole genome sequence approximately 3,000 individuals with Parkinson’s or with a first-degree relative with PD. (The ratio is yet to be determined.) It’s a unique opportunity to learn more about the genetics of people with Parkinson’s disease and hopefully identify novel targets and biological pathways. 

<h6>MJFF: How can genomic sequencing lead to new targets and treatments?</h6>
PC: It’s obviously the start of a long process, but one of the principle aims is to discover new therapeutic targets for Parkinson’s disease and specifically for disease-modifying therapies. There are a number of interesting therapies in development, but we need more shots on goal.
Through whole genome sequencing, we’ll look for genetic variants such as small deletions or insertions that are difficult to detect with our present mapping-based approach. It’s a more thorough interrogation of the genome made feasible by the decreased cost of whole genome sequencing and the analysis methods that have come along hand-in-hand.
<h6>MJFF: What is the difference between genomic sequencing and what you get from the 23andMe spit test?</h6>
PC: In whole genome sequencing you’re interrogating the majority of a person’s genome [complete DNA sequence]: every position of the approximately 3 billion base pairs that we have in our genome. The single nucleotide polymorphism [SNP pronounced SNIP] genotyping that 23andMe traditionally uses currently interrogates around 650,000 markers on the genome. Those are the mileposts, where sequencing looks at every section of the road.
<h6>MJFF: How can people with Parkinson’s disease get involved?</h6>
PC: For this study, we’ll be recruiting from the existing 23andMe Parkinson’s Community. We’re defining the genetic and clinical profiles that will give us the highest chance of success, and those individuals will be invited from the existing database. 
That said, we encourage those not yet in the 23andMe Parkinson’s Community to join us. There will definitely be future projects; this won’t be our only effort.
<h6>
MJFF: Speaking of other efforts, 23andMe recently launched its own Therapeutics Group. What can you tell us about the aims there?</h6>
PC: It’s very exciting to have the opportunity to work with an in-house team that is focused on development of therapeutics. We’ve obviously worked with commercial partners on drug discovery, and we’ll continue to do so. I’m hoping to work with them on potential projects for Parkinson’s research, but that’s still to be determined. 
I can’t speak for them, but they’ll mine interesting data, presumably, and look for opportunities that pop out across the broad spectrum of diseases represented in 23andMe. They’re using human genetics to drive therapeutic discovery and to improve development of drugs by matching patients with the right drugs through the use of genetics.
<h6>MJFF: Thanks for your time, Paul. Anything else you want our audience to know?</h6>
PC: My pleasure. As a last note, I’d just say that we continue to look to work with partners across the Parkinson’s disease research community. There are opportunities for other collaborations and projects, and we’ll work together to continue to push forward Parkinson’s research, ultimately for a cure. 
Learn more about the 23andMe Parkinson’s Community.

An Interview With Paul Cannon

Like all good photographers Alan Babbitt sees what’s invisible to most of us.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-22262" src="https://blog-api.23andme.com/wp-content/uploads/2015/02/Alan-B-300x300.jpeg" alt="Alan B" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/02/Alan-B-300x300.jpeg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/02/Alan-B-150x150.jpeg 150w, https://blogcms.23andme.com/wp-content/uploads/2015/02/Alan-B-768x768.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/02/Alan-B-271x271.jpeg 271w, https://blogcms.23andme.com/wp-content/uploads/2015/02/Alan-B-372x372.jpeg 372w, https://blogcms.23andme.com/wp-content/uploads/2015/02/Alan-B-574x574.jpeg 574w, https://blogcms.23andme.com/wp-content/uploads/2015/02/Alan-B.jpeg 800w" sizes="auto, (max-width: 300px) 100vw, 300px" />
With a steady hand and a willingness to go almost anywhere for a good shot, Alan spent decades turning his lens on people and places to create images he thought would draw the viewer in and tell a story.
“I’d call it street photography,” he said. “I wanted to document what’s around me.”
But when his steady hand began to fail him in 2003, he thought he’d lost what defined him as a photographer.
“First my thumb started twitching,” he said.
<h6>Parkinson&#8217;s Photographer</h6>
Then the tremors became more pronounced. After seeing a neurologist, he got a diagnosis that shook him to his core – Alan learned he had Parkinson’s disease.
“It was devastating,” he said.
He was a still photographer, he liked to say, but he couldn’t keep his camera from shaking. Alan drifted into depression, and for a time stopped taking photos all together.

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The difficult news was compounded by a side effect of the disease. Parkinson’s causes chemical changes in the brain that can lead to depression. Ironically when Alan began taking an anti-depressant, it compounded his problem, one of the drug’s side effects included tremors.
“It was hard,” he said.
It felt like the passion of his life – the thing Alan had been doing since he was a kid with his first camera, a Kodak Brownie Hawkeye – was slipping away.
<h6>Seeing Anew</h6>
And then Alan saw something that no one else could see.
“It was almost by accident,” he said.
In Las Vegas, he went out one evening with his camera. He was taking photos in the low light, frustrated by every image being out-of-focus.
“But you know the beauty of digital cameras is you can see things instantly,” Alan said.
As he looked at the photos on the camera, he was suddenly struck by the blurry images his shaky hands were taking. It was one of those a-ha moments.
<h6>Unstill Photography</h6>
He decided to push it one step further, clicking off the flash, slowing the shutter speed down, and turning his small point-and-shoot digital camera back at the neon lit streets of Las Vegas. Instead of trying to deny what was happening to him, Alan made his Parkinson’s part of how he made his images.
“After a couple years of fighting my tremor and trying to work around it, I had the notion to just let go and let it do its thing,” Alan said. “The camera quickly showed me I was onto something.”
Just as he’d always done as a good photographer, Alan captured what was invisible to most of us. And thus the creation of what he now calls his “Un-Still Photography.” Instead of trying to steady his hand, the tremors were part of his creative process, generating the swirls and whirls of light that offered unique and arresting images of the world around him.
<h6>New Possibilities</h6>
His epiphany in Las Vegas energized him and he folded that feeling into how the diagnosis itself had changed him. His priorities changed, so did his goals and his notion of what he wanted out of life.
“The world and everything in it became new and fresh and the possibilities were endless,” Alan said.
From that moment in <a href="http://www.abproductions.com/las_vegas/las_vegas.html" target="_blank" rel="noopener noreferrer">Las Vegas</a>, Alan has begun to push his <a href="http://www.abproductions.com/moving_landscapes/moving_landscapes.html" target="_blank" rel="noopener noreferrer">“Un-Still Photography”</a> into other unexpected arenas including sports photography, particularly <a href="http://www.abproductions.com/ballpark/ballpark_ss.html" target="_blank" rel="noopener noreferrer">baseball</a>. The images he captures including the swirl of a batter’s swing, or the buzzing color of the crowds in the stadium, you can’t see in most sports images.
For Alan, who joined 23andMe’s Parkinson’s research community almost six years ago, his condition has become something that he is embracing.
“It’s turning a negative into a positive,” he said.
That’s what also motivated him to join 23andMe and contribute to research.
“If they can learn something from me about this disease that can help someone else then I’m all for it,” he said.
Check out some of Alan’s images on <a href="http://abproductions.com/" target="_blank" rel="noopener noreferrer">his website</a>.

Steady On

On Thursday and Friday, 23andMe will be participating in two online events hosted by the <a href="https://www.michaeljfox.org/" target="_blank" rel="noopener noreferrer">Michael J. Fox Foundation</a> focused on Parkinson’s disease and some of the latest research into its genetic underpinning.<img loading="lazy" decoding="async" class="alignright size-full wp-image-12404" src="https://blog-api.23andme.com/wp-content/uploads/2012/04/pd_fist_300px.png" alt="Parkinson's disease fight arm" width="289" height="300" />
On Thursday February 19th, at 12 pm EST, the Michael J. Fox Foundation will host a webinar titled <a href="https://www.michaeljfox.org/page.html?hot-topics-webinar-series" target="_blank" rel="noopener noreferrer">&#8220;How Much of Parkinson&#8217;s Disease Is Genetic?&#8221;</a>
Veteran Bay Area public television journalist <a href="https://www.washingtonpost.com/wp-dyn/content/discussion/2009/01/29/DI2009012902360.html" target="_blank" rel="noopener noreferrer">Dave Iverson</a>, who is also a Parkinson’s patient, will moderate the discussion. You can log in and listen live as well as submit your own questions. If you can’t watch the live event, which will include discussion on the latest science from leading researchers, the foundation plans to record it so it can be viewed at a later time.
On Friday February 20th, the foundation will host a Twitter chat – beginning at 12 pm EST – that is also focused on the genetics behind Parkinson’s disease. Among the topics discussed, the chat will explore the different genes identified to contribute to Parkinson’s disease, how different genetic variants influence the development of the condition and highlight some of the new research on the disease.
You can follow the Twitter chat or comment by using <img loading="lazy" decoding="async" class="alignright size-medium wp-image-22220" src="https://blog-api.23andme.com/wp-content/uploads/2015/02/fox-pd-chat-636-300x160.jpg" alt="fox pd chat 636" width="300" height="160" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/02/fox-pd-chat-636-300x160.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/02/fox-pd-chat-636.jpg 636w" sizes="auto, (max-width: 300px) 100vw, 300px" />
23andMe’s <a href="https://www.23andme.com/pd/" target="_blank" rel="noopener noreferrer">Parkinson’s Research Community</a> is now the largest cohort of genotyped Parkinson’s patients in the world. For several years now, 23andMe has had a close working relationship with the Michael J. Fox Foundation, and 23andMe co-founder Anne Wojcicki has been a longtime supporter of the foundation. Since it formed more than a decade ago, the Michael J. Fox Foundation has funded more than $450 million to speed a cure for Parkinson’s disease.

Let’s Talk About Parkinson’s

At an annual conference last month sponsored by the Michael J. Fox <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2009/03/parkinsonsdisease.jpg" alt="parkinsonsdisease" class="alignright size-full wp-image-3133" width="260" height="236" />Foundation, scientists, academics and business representatives gathered in New York City to explore some of the latest and most promising Parkinson’s research that’s being supported by the foundation.
23andMe’s Paul Cannon, who manages our Parkinson’s Research Community, was among the more than 250 people gathered to learn more about some of the newest findings meant to help us better understand the biology of the disease as well as potential new targeted therapies.


Below is some of what caught Paul’s attention. The Michael J. Fox Foundation, which has also been a big supporter of <a href="https://www.23andme.com/pd/" target="_blank" rel="noopener noreferrer">23andMe&#8217;s Parkinson&#8217;s Research Community</a>, also recently posted a blog about the conference <a href="https://www.michaeljfox.org/foundation/news-detail.php?latest-in-parkinson-research-showcased-at-mjff-conference" target="_blank" rel="noopener noreferrer">here</a>. 


<h6>
Alpha-Synuclein</h6>

One of the interesting new disease modifying drugs is a vaccine that targets a protein called <a href="https://www.michaeljfox.org/understanding-parkinsons/living-with-pd/topic.php?alpha-synuclein" target="_blank" rel="noopener noreferrer">alpha-synuclein</a>. We’ve <a href="https://blog.23andme.com/news/the-state-of-the-science-of-parkinsons-research/" target="_blank" rel="noopener noreferrer">written in the past</a> about research on alpha-synuclein. This protein is encoded in the SNCA gene and found in the brain. Researchers discovered that these proteins accumulate and clump together in people with Parkinson’s. The thought is that removing these “sticky proteins” could help slow or stop the progression of Parkinson’s.
In an early stage clinical study the vaccine was given to about two-dozen patients. A little more than half of the patients who received the vaccine showed an antibody response. At this stage it’s unclear why some patients responded to the vaccine and others didn’t. Importantly the vaccine appears to be safe and well tolerated and future studies will address the reason for this differential response as well as ask whether the treatment has any effect on the symptoms and progression of Parkinson’s.
 
<h6>DPP-4 Inhibitors</h6>

Recently evidence has emerged that certain type of drugs used to treat type 2 diabetes may hold promise for treatment of Parkinson’s patients as well. Encouraging preclinical data were presented for one class of drugs called dipeptidyl protease-4 (DPP-4) inhibitors. It is not known how these drugs might work to affect Parkinson’s, but their use to in diabetics has shown them to be safe which will make it easier to carry out clinical studies in PD. 
 
<h6>Levodopa Carbidopa</h6>

Whilst disease modifying therapies are understandably of great interest, there is still a lot of room for improvement with current treatments. An example of this is a system designed to deliver a continuous level of a popular drug cocktail used for Parkinson’s patients called levodopa carbidopa.
A liquid form of the drug combo was developed and clinical studies showed that when used with either a pump or a patch it resulted in more consistent levels of the drugs in patients’ blood. This should result in better control of symptoms and it is hoped that it will also decrease the development of uncontrolled movements, known as dyskinesias, associated with long term use of levodopa.


Looking to the Future
These were just some of the highlights from Paul’s notes, but it doesn’t begin to cover the value in bringing together so many researchers working on Parkinson’s.
It also highlights the value of 23andMe’s long time collaboration with the Michael J. Fox Foundation in research. In partnership with our Parkinson’s disease research community we continue to focus on understanding the relationship between the environment and genetic factors in the development of the disease, discovering how and why those with Parkinson’s react differently to existing treatments, as well accelerating the discovery and development of new treatments.

Highlights on New Parkinson’s Research

Last week was a good one for research at 23andMe with two announcements that offer more examples of the power of our research model.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-11373" src="https://blog-api.23andme.com/wp-content/uploads/2012/02/researchrevolution-fist-173x300.jpg" alt="researchrevolution-fist" width="173" height="300" />
First was the publication of a massive <a href="https://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3043.html">Parkinson’s disease study</a> that our scientists worked on with a consortium of 50 other organizations that were lead by researchers at the National Institute on Aging. Among other things the study found five new genetic associations for the disease. Then a few days after the publication of the paper, 23andMe announced that we had received a <a href="https://mediacenter.23andme.com/press-releases/nih_grant_2014/">$1.4 million grant</a> from the National Institutes of Health for a two-year project to refine our online genetic database and the research engine we use for making genetic discoveries.
While these two announcements were not related, they both illustrate the power and potential of our data. In the case of the Parkinson’s study, data from more than 66,000 23andMe customers who’d consented to participate in research helped power that study, which identified six new genetic variants associated with the disease.
The NIH funding was more about embracing the future, and refining some of the online genetic research tools 23andMe pioneered and opening up our database for other researchers.
Here’s how some others wrote about the announcements.
&#8211; <a href="https://venturebeat.com/2014/07/30/23andme-gets-a-1-4m-nih-grant-still-awaits-fda-approval/">Venture Beat</a>
&#8211; Reuters
&#8211; <a href="http://www.bio-itworld.com/2014/7/29/23andme-gets-1.4m-nih-publishes-parkinsons-research.html">Bio-IT World</a>
&#8211; <a href="http://www.fiercebiotechit.com/story/23andme-open-database-external-researchers-after-securing-nih-grant/2014-08-04" target="_blank" rel="noopener">FierceBioTechIT</a>
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23andMe’s Research Model Makes News

A large new study spearheaded by researchers with the National Institute on Aging that involved scientists from more than 50 different institutions worldwide – including 23andMe – has found new genetic risks for Parkinson’s disease.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-6586" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg" alt="23andMe_Logo_blog" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Published in this week’s Nature Genetics, <a href="https://dx.doi.org/10.1038/ng.3043" target="_blank" rel="noopener noreferrer">the study</a> is significant for both its size and its findings. It is the largest Parkinson’s genome wide association study (GWAS) ever done, looking at more than seven million variants in about 13,000 patients with the disease. The researchers used the data from more than 100,000 people without Parkinson’s who were used as controls.
23andMe contributed data from more than 4,000 of our customers with Parkinson’s and about 62,000 without the disease who all consented to participate in research.
Along with replicating more than two dozen known genetic associations with Parkinson’s the researchers were able to find half a dozen loci in genes previously unknown to be associated with the disease  – SIPA1L2, INPP5F, MIR4697, GCH1, VPS13C, and DDRGK1.<img loading="lazy" decoding="async" class="alignright size-full wp-image-3133" src="https://blog-api.23andme.com/wp-content/uploads/2009/03/parkinsonsdisease.jpg" alt="parkinsonsdisease" width="260" height="236" />
What’s interesting about these variants is that they are located in genes that are associated with <a href="https://www.nature.com/scitable/topicpage/the-role-of-methylation-in-gene-expression-1070" target="_blank" rel="noopener noreferrer">DNA methylation,</a> one of the processes which control gene expression. The results indicate that gene regulation in the brain plays an important role in the development of Parkinson’s disease progress. The newly discovered loci also have other known associations with disease.
For instance, INPP5F, has been found to be associated with late onset Alzheimer’s disease, VPS13C is associated with some neurodegenerative diseases, while GCH1 has been associated with the onset of early and atypical Parkinson’s disease.
The researchers in the study, led by <a href="http://www.irp.nia.nih.gov/branches/irp/asingleton.htm" target="_blank" rel="noopener noreferrer">Andrew Singleton</a>, were able to find these previously missed genetic associations because they used such a large sample size, combining all existing genotype data on Parkinson’s disease.
The success of this effort helped researchers conclude that ever-greater detail on genetic risk can be found by gathering ever larger study sample sizes.
23andMe’s contribution to this study was made possible through the participation of the more than 10,000 people in 23andMe’s <a href="https://www.23andme.com/pd/">Parkinson’s Research Community</a>, the world’s largest cohort of genotyped Parkinson’s patients.
It was also made possible because of 23andMe customers, who do not have the disease but have consented to participate in research. Thank you.

New genetic variants found to influence risk of Parkinson’s disease

This post comes to us from our friends at the <img loading="lazy" decoding="async" class="alignright size-medium wp-image-20765" src="https://blog-api.23andme.com/wp-content/uploads/2014/04/pd-graphic-300x300.jpg" alt="pd-graphic" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2014/04/pd-graphic-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2014/04/pd-graphic-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2014/04/pd-graphic-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2014/04/pd-graphic-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2014/04/pd-graphic.jpg 400w" sizes="auto, (max-width: 300px) 100vw, 300px" />customers and research participants the opportunity to access their information if they want it. This post from the Michael J. Fox Foundation attempts to cover the different approaches to informing participants about their results. 
Researchers need to know if study participants have certain genetic mutations to understand how those lead to disease. But do the participants have to know if they have a mutation?
Parkinson’s disease (PD) researchers <a href="https://www.nature.com/gim/journal/v16/n8/full/gim201455a.html" target="_blank" rel="noopener noreferrer">published last month</a> in Genetics of Medicine the different answers to that question among sites investigating <a href="https://www.michaeljfox.org/understanding-parkinsons/living-with-pd/topic.php?lrrk2">mutations in the LRRK2 gene</a>, the greatest known genetic contributor to PD.
Investigators from The Michael J. Fox Foundation-sponsored <a href="https://www.michaeljfox.org/page.html?lrrk2-cohort-consortium">LRRK2 Cohort Consortium</a> authored the letter to the editor. The consortium unites research groups from nine countries on four continents to learn more about LRRK2 and speed collective efforts closer to practical therapies for patients.
In general, mutations in the LRRK2 gene account for less than five percent of PD cases, but that number jumps in certain ethnic populations; LRRK2 mutations are associated with 18 to 40 percent of PD cases among those of Ashkenazi Jewish or North African Berber descent. Adding to the complexity is the unknown “penetrance” or association between a mutation and disease onset; estimates range from 24 to 80 percent.
Currently there are no proven preventive or disease-modifying strategies for Parkinson’s, so information of one’s PD genetic profile may not influence any direct action.
“The study design raised an ethical question,&#8221; according to the authors. &#8220;Should the genetic testing results be reported to participants?”   People with Parkinson’s and their family members without PD were screened for a LRRK2 mutation, and researchers conducted a more thorough investigation on mutation carriers and a subset of those without mutations.
Sites in the United States did not offer genetic results to participants with PD, but Israeli sites concluded it would be unethical not to provide such information. They informed all PD participants who requested their results.
Most study sites did not offer results to non-PD participants unless they first received genetic counseling. The Toronto team stopped offering these results after they felt participants had trouble grasping the information.
The letter’s authors outline the arguments for each side: Knowing one’s genetic risk may be distressing. However, many feel that this data is the property of the participants and they should be allowed to receive or refuse it as they prefer.
“It is true that presently there is no definitive action one can take to offset genetic risk for Parkinson’s disease,” said Brian Fiske, PhD, vice president of research programs at The Michael J. Fox Foundation. “However, individuals who do choose to learn their genetic status can play an important role in teaching researchers about the disease and possible treatments.”
The MJFF-led <a href="https://www.michaeljfox.org/page.html?parkinsons-progression-markers-initiative-get-involved">Parkinson’s Progression Markers Initiative</a> is enrolling people with a LRRK2 mutation. The observational, biomarker study is recruiting people of Ashkenazi Jewish descent – because of greater prevalence – with Parkinson’s or with a first-degree relative with PD. <a href="https://www.michaeljfox.org/page.html?parkinsons-progression-markers-initiative-get-involved">Learn more</a> about PPMI.
You can also join the 23andMe’s <a href="https://www.23andme.com/pd/">Parkinson’s Disease Research Initiative</a> by contributing demographic and medical history information and a <a href="https://www.23andme.com/dna-ancestry/">DNA kit</a>. <a href="https://www.23andme.com/pd/">Learn more</a>.

Parkinson's Disease — Page 5