In his last fight– the one against Parkinson’s – Muhammad Ali went the distance finally succumbing in early June to complications from a respiratory problem.
He was 74.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-24008" src="https://blog-api.23andme.com/wp-content/uploads/2016/06/Ali-300x168.png" alt="Ali" width="300" height="168" />
In the more than 30 years since Ali was first diagnosed, our understanding of Parkinson’s has changed enormously and yet there is still much we don’t understand. While many assume that it was Ali’s many years in the ring that caused his Parkinson’s, it’s likely much more complicated than that.
<a href="https://www.michaeljfox.org/foundation/leaders.html?communications#racheldolhun">Dr. Rachel Dolhun</a>, the vice president for medical communications with the Michael J. Fox Foundation, recently wrote about this.


“(H)ead trauma and traumatic brain injury are associated with an increased risk of Parkinson&#8217;s but the mechanisms for how they are connected are unclear and direct causation (head or brain injury actually causing Parkinson&#8217;s) has not been established,” Dolhun writes. “More work is necessary to fully understand this relationship.”
While head trauma has been linked to Parkinson’s, so too has exposure to chemicals and genetics.
“Genes load the gun” and some environmental exposure or head trauma, “pulls the trigger.”


What complicates the picture is also the nature of Parkinson’s itself. It may not be one disease, but many different conditions that fall under one diagnosis. This evolving understanding of the disease was noted in a recent article in <a href="http://www.theatlantic.com/health/archive/2016/06/ali-and-parkinsons/485798/">The Atlantic</a> by one of the magazine’s senior editors, Dr. James Hamblin. He notes that some neurologists have come to use the term<a href="https://www.ncbi.nlm.nih.gov/pubmed/27262147"> “Parkinson’s disease syndrome”</a> to describe the condition.
In the same way our understanding of what causes the disease has also come to include many different culprits – including head trauma.
While Hamblin focuses on just one genetic discovery by a team at Northwestern University, there have been many found over the years, including genetic variants that might mitigate the risk for the disease. Each finding has helped researchers deepen their understanding of the biological underpinnings of the disease, which in turn has helped to focus efforts looking at new treatments for the condition.


As<a href="https://blog.23andme.com/news/forever-grateful/"> we noted</a> in our blog earlier this month, Ali himself (along with his daughter Laila) supported research into the disease. With 23andMe the two helped produce <a href="https://www.youtube.com/watch?v=9B9cgyEeULU">a video</a> to encourage participation in Parkinson’s research. 23andMe now has the <a href="https://www.23andme.com/pd/">largest Parkinson&#8217;s community</a> for genetic research in the world. It’s allowed researchers to make important breakthroughs and uncover new genetic associations for the disease.


Find out more about our research into Parkinson’s <a href="https://www.23andme.com/pd/">here</a>.

23andMe Blog

23andMe Blog Team

Ali and Parkinson’s

This past weekend the Parkinson’s disease community and the world at large lost a truly inspirational leader with the passing of Muhammad Ali. <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2016/06/Ali-e1496785930201.png" alt="" class="alignright size-full wp-image-24008" width="300" height="168" />
We want to express our sympathy to his family for their loss and join countless others in celebrating his life and extraordinary achievements on behalf of many causes. 
Of course, Parkinson’s disease is a cause <a href="https://www.23andme.com/pd/">close</a> to 23andMe. 
Diagnosed with Parkinson’s in 1984 at age 42, twenty years sooner than the average Parkinson’s patient, Ali managed to shock the world much like he did in the ring, living more than three decades with the disease. His commitment to battle the disease everyday and to not let it define or defeat him are truly inspirational for all of those living with Parkinson’s, as well as their caregivers. 
Parkinson’s affects between 7 and 10 million people worldwide. 
Together with 23andMe, Ali and his daughter Laila produced <a href="https://www.youtube.com/watch?v=9B9cgyEeULU">a video</a> encouraging participation in Parkinson’s disease research. Due in large part to the awareness raised by the video, and other efforts made by the Ali family, there are now more than 11,000 patients enrolled in the 23andMe Parkinson’s research study. 


This research has led to the discovery of <a href="https://blog.23andme.com/23andme-research/new-parkinsons-findings-published/">several new genetic associations</a> for Parkinson’s Disease. We are forever grateful for the global awareness he raised.  Because of Ali’s leadership and the courage of others with PD, we are beginning to better understand the role genetics plays along with behavior and environmental factors. 
We will, like the rest of the PD community, miss his fighting spirit.  But in his memory, the fight lives on.

Forever Grateful

There are many faces of Parkinson’s, Claudia’s just happens to be smiling most of the time.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23733" src="https://blog-api.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-244x300.jpg" alt="PD Infographic Top" width="244" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-244x300.jpg 244w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-768x946.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-831x1024.jpg 831w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-714x880.jpg 714w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-958x1180.jpg 958w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top.jpg 1010w" sizes="auto, (max-width: 244px) 100vw, 244px" />
“I’m an optimistic person,” said the mother of two teenage boys who lives with her family in Illinois.


She’s also one of the 11,000 people with the disease that make up <a href="https://www.23andme.com/pd/">23andMe’s Parkinson’s Research Community</a> – individuals who participate in a new kind of crowd-sourced science.
To mark Parkinson’s Awareness Month, we’re highlighting Claudia’s story in part because of who she is, but also because of what motivated Claudia to join the community in the first place, and what keeps her engaged and optimistic about the future.
Most of us are not scientists or researchers, but we can play a role in our health by being engaged, educated about the disease, and willing to contribute to research.
As Claudia says:


“If I have the opportunity to do something right now, why wouldn’t I?”
It’s people like Claudia, who have helped 23andMe create the world’s largest cohort of genotyped Parkinson’s patients. This community has powered important research from the beginning, first helping to replicate known genetic associations for Parkinson’s and then helping researchers find never before seen associations.
23andMe’s Parkinson’s Research Community is unique because it enlists people as partners in research instead of looking at them as subjects. For those with Parkinson’s – some of whom live away from major centers of research or are physically unable to travel to those centers – 23andMe’s Research community has allowed them to easily contribute from the comfort of their own homes.
For Claudia her diagnosis in 2010 surprised her and left her frightened, and unsure.
“Parkinson’s disease entered in our home uninvited and it decided to stay, in me,” she said.


Like many who face a serious illness, Claudia wondered why this burden had been placed on her shoulders, but she quickly moved beyond that. She thought of her children and others with the disease, knowing that perhaps if she participated in research scientists might find something in her that could help others.


Take a moment and meet Claudia, one of the everyday heroes that make 23andMe’s research possible. 
<iframe loading="lazy" width="640" height="360" src="https://www.youtube.com/embed/-1gjNUzABAY" frameborder="0" allowfullscreen="allowfullscreen"></iframe>

Everyday Hero

To mark Parkinson’s Awareness Month, we’re taking a moment to look at some of the accomplishments 23andMe has made in the study of the disease in a relatively short time.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23733" src="https://blog-api.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-244x300.jpg" alt="PD Infographic Top" width="244" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-244x300.jpg 244w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-768x946.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-831x1024.jpg 831w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-714x880.jpg 714w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-958x1180.jpg 958w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top.jpg 1010w" sizes="auto, (max-width: 244px) 100vw, 244px" />


First launched in 2009, 23andMe’s <a href="https://www.23andme.com/pd/">Parkinson’s Research Community</a> is now the world’s largest cohort of genotyped Parkinson’s patients. This community has powered important research from the beginning, first helping to replicate known genetic associations for Parkinson’s and then helping researchers find never before seen associations.


Like other 23andMe research initiatives, the 23andMe Parkinson’s Community is unique because it enlists people as partners in research. For those with Parkinson’s – some of whom live away from major centers of research or are physically unable to travel to those centers – 23andMe’s Research Community has allowed them to easily contribute from the comfort of their own homes.


This model has helped to accelerate the pace of research, uncovering new insights into the genetics of Parkinson’s, and offering a model for other kinds of disease research now conducted at 23andMe.
In the six years since launching more than 11,000 people with Parkinson’s have joined. Their participation has made it possible for our researchers to uncover eight new genetic associations for Parkinson’s and replicated dozens of others. 23andMe researchers contributed to the largest genome-wide association study on Parkinson’s in 2014, which looked at more than seven million genetic variants in 13,000 people with Parkinson’s.
This community has enabled our researchers to make important discoveries, crowdsourced information about the most common medications within the community, and <a href="https://www.23andme.com/pd/">partner with other organizations</a> doing <a href="https://www.nature.com/ng/journal/v46/n9/full/ng.3043.html">important work</a> on Parkinson’s.  More recently 23andMe partnered with Genentech on a project to sequence 3,000 individuals within 23andMe’s Parkinson’s research community to identify new treatments for the disease. As part of this effort, our researchers are also looking at healthy family members of those with Parkinson’s.
Our team is also looking to the community for advice on improving the experience.
Recently, 23andMe held the first meeting of our Parkinson’s research community advisory council. The eleven-member council of volunteers offered useful and important feedback. We also recently gathered our scientific advisory board for a meeting and hired a post-doctoral student who will work solely on Parkinson’s research community projects.
We know that in the coming months and years we will be able to leverage this one-of-a-kind community to learn more help in the search for better treatments for the disease.
Take a moment to see some of what we’ve done.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-23738" src="https://blog-api.23andme.com/wp-content/uploads/2016/03/07172015_PDrecruitInfographic_v142-2.jpg" alt="07172015_PDrecruitInfographic_v14(2)" width="750" height="4473" />

April is Parkinson’s Awareness Month

<div id="attachment_23228" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23228" class="wp-image-23228 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/11/MJFF-photo-1-e1447799948582-300x254.jpg" alt="MJFF photo" width="300" height="254" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/11/MJFF-photo-1-e1447799948582-300x254.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/11/MJFF-photo-1-e1447799948582.jpg 483w" sizes="auto, (max-width: 300px) 100vw, 300px" />The panel discussing Parkinson&#8217;s Progression Marker Initiative at the MJFF&#8217;s Parkinson&#8217;s Disease Therapeutics Conference in New York.</div>
From implanting cells into the brain to prevent the loss of dopamine producing nerve cells, to placing light sensitive channels in nerve cells to better treat the symptoms of Parkinson’s disease, researchers are pushing into new realms in the fight against the disease.


At the ninth annual<a href="https://www.michaeljfox.org/research/parkinsons-therapeutics-conference.html"> Michael J. Fox Foundation Parkinson’s </a><a href="https://www.michaeljfox.org/research/parkinsons-therapeutics-conference.html">Therapeutics Conference</a> in New York City earlier this month, more than 300 gathered to learn about a wide range of new experimental treatments and therapies.
Always groundbreaking, this year’s conference didn’t disappoint, and offered attendees much to be optimistic about. 23andMe’s Paul Cannon, Ph.D., who manages our<a href="https://www.23andme.com/pd/"> Parkinson’s Research Community</a>, was there along with Linda Yu, Ph.D., a project manager in business development here, and other business leaders, researchers and scientists.
“This was my second year attending the conference and I continue to be impressed by what I see,&#8221; said Paul. &#8220;It&#8217;s also a great opportunity to meet with like-minded researchers all interested in one thing – finding new breakthroughs in the fight against Parkinson’s.”
<div id="attachment_22380" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22380" class="size-medium wp-image-22380" src="https://blog-api.23andme.com/wp-content/uploads/2015/03/paul-300x235.jpg" alt="Paul Cannon, 23andMe's Parkinson's Research Community manager." width="300" height="235" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-300x235.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-768x602.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-1024x802.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-880x689.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-1180x924.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul.jpg 2016w" sizes="auto, (max-width: 300px) 100vw, 300px" />Paul Cannon, Ph.D., 23andMe&#8217;s Parkinson&#8217;s Research Community manager.</div>
Bringing together the foundation’s partners and grantees, the annual conference is meant to offer a snapshot of the state of the science around the study of Parkinson’s and its treatments. The daylong conference is broken into sessions that focus on treatments that can modify the progression of the disease, or those that treat the symptoms, as well as sessions that focus on what’s on the horizon, and new tools that can be used in Parkinson’s research.


There was a lot packed into one day, but Paul singled out a few presentations that he found particularly interesting.
The first is a treatment that is now in the preclinical phase, a first step in the process of drug development. The treatment involves an innovative technique that implants cells into the brain. Those cells are engineered to express<a href="https://www.wikigenes.org/e/gene/e/2668.html"> glial derived neurotrophic factor</a> (GDNF), a protein that could help prevent or even reverse the loss of dopamine producing neurons due to Parkinson’s. Dopamine acts as a neurotransmitter in the brain and helps individuals regulate their movements, their body and emotions even. There is still much to be done, and an important next step in the process is a planned clinical study next year, the purpose of which is to make sure that this therapy can be safely administered to patients.


Paul was also struck by the unusual cooperation between three competing drug companies and The Michael J. Fox Foundation. The companies – Genentech, Pfizer and Merck – are all developing inhibitors of the LRRK2 kinase, the product of the well-known LRRK2 gene, mutations in which cause Parkinson’s disease in some individuals. An exciting feature of this approach is that it may also help all Parkinson’s patients, not just those with the deleterious LRRK2 mutations. The consortium members, led by the foundation, are sharing their compounds and data to work through safety concerns and understand the potential impact of this approach on lung function, which was discovered during animal models.
“This is a cool and rare example of cross-company collaboration,” said Paul. “The Michael J. Fox Foundation did well to pull it off.”
<div id="attachment_23232" style="width: 234px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23232" class="size-medium wp-image-23232" src="https://blog-api.23andme.com/wp-content/uploads/2015/11/2014-09-14-15.21.36-224x300.jpg" alt="Linda Yu, Ph.D., a 23andMe project manager in business development." width="224" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/11/2014-09-14-15.21.36-224x300.jpg 224w, https://blogcms.23andme.com/wp-content/uploads/2015/11/2014-09-14-15.21.36-768x1028.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/11/2014-09-14-15.21.36-765x1024.jpg 765w, https://blogcms.23andme.com/wp-content/uploads/2015/11/2014-09-14-15.21.36-657x880.jpg 657w, https://blogcms.23andme.com/wp-content/uploads/2015/11/2014-09-14-15.21.36-881x1180.jpg 881w, https://blogcms.23andme.com/wp-content/uploads/2015/11/2014-09-14-15.21.36-scaled.jpg 1912w" sizes="auto, (max-width: 224px) 100vw, 224px" />Linda Yu, Ph.D., a 23andMe project manager in business development.</div>
There were many other interesting new therapies, such as the use of optogenetics in the treatment of Parkinson’s symptoms. This involves placing light sensitive channels in nerve cells and then stimulating them with light to open or close those channels as a way to treat certain symptoms of the disease. Paul said there were also many updates on other treatments in development for Parkinson’s including better techniques for administering the drug Levodopa in order to minimize the development of drug induced <a href="https://www.michaeljfox.org/understanding-parkinsons/living-with-pd/topic.php?dyskinesia">dyskinesias</a> (abnormal involuntary movements).


Beyond drug development the conference also included presentations on new ways to detect Parkinson’s and monitor its progression, as well as interesting new uses for smartphones. Dr. Ray Dorsey, a researcher at the University of Rochester who has worked with 23andMe as a member of our Parkinson&#8217;s Research Scientific Advisory Board, spoke about the potential of using smartphones as an unobtrusive way to monitor the symptoms and progression of Parkinson’s in patients. Motion sensors in the phones apps that can measure changes in changes in gait, or voice monitors that can measure changes in the tone of voice, are likely to be the next big tool for those treating people with Parkinson’s. Working with researchers at Harvard and the company Sage Bionet, researchers have already developed two applications that leverage smartphone technology. This is also helping researchers who are collecting survey data and gathering patient feedback.
“It’s a fascinating area,” said Paul “The key is to collect data with a view to the questions you are trying to address otherwise drowning in data is a real possibility.”

What’s New In Parkinson’s Research

In two recent reports , Parkinson’s researchers describe findings that may lead to new ways of detecting early signs of the disease and a potential new treatment.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-22635" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg" alt="Brain Logo" width="287" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg 287w, https://blogcms.23andme.com/wp-content/uploads/2015/06/Brain-Logo.jpg 438w" sizes="auto, (max-width: 287px) 100vw, 287px" />


In the first case, researchers in Scotland are looking at the possibility that even before a patient begins to have obvious symptoms of the disease, their body chemistry may change in a way that can be detected through a difference in<a href="http://www.bbc.com/news/uk-scotland-34583642"> how they smell</a>.
While it’s been long known that a loss of smell is a common symptom for those with Parkinson’s, being able to detect whether someone has the disease through odor is a new idea.
The study was prompted after the wife of a Parkinson’s patient in Scotland, Joy Milne,   noticed that people with Parkinson’s had the same distinct smell she’d noticed in her husband before he began to show signs of the disease.
She mentioned this to a scientist in passing who was intrigued enough to test her in a study at the <a href="http://www.crm.ed.ac.uk/research/diseases-we-study/parkinsons-disease" target="_blank" rel="noopener noreferrer">Edinburgh University</a>. 
There and at the University of Manchester, researchers found that Joy could indeed discern between people with Parkinson’s and those without the disease by smelling t-shirts they’d worn. In fact she was even able to detect the disease in one of the “control” subjects eight months before they were diagnosed. Now they are working on studying why that might be.

<iframe loading="lazy" width="640" height="360" src="https://www.youtube.com/embed/CCZ5rFs7El4" frameborder="0" allowfullscreen="allowfullscreen"></iframe>


Researchers believe that changes in the skin in the early stages of Parkinson’s produces a distinct smell that could be used for early detection. They hope to find the molecular signature responsible and then develop a simple test to detect it. This could help in early detection of the disease.
23andMe Parkinson’s research community manager, Paul Cannon, said that this is a potentially important finding since
<div id="attachment_22380" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22380" class="size-medium wp-image-22380" src="https://blog-api.23andme.com/wp-content/uploads/2015/03/paul-300x235.jpg" alt="Paul Cannon, 23andMe's Parkinson's Research Community manager." width="300" height="235" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-300x235.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-768x602.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-1024x802.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-880x689.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-1180x924.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul.jpg 2016w" sizes="auto, (max-width: 300px) 100vw, 300px" />Paul Cannon, 23andMe&#8217;s Parkinson&#8217;s Research Community manager.</div>
reliable early detection of the disease is key both to improve the management of patients as well as enable the clinical development of treatments that slow the progression of the disease.
In a second intriguing study, researchers at Georgetown University found a potentially effective<a href="https://www.forbes.com/sites/emilymullin/2015/10/21/could-a-cancer-drug-reverse-parkinsons-disease/"> new treatment for Parkinson’s</a> symptoms using a drug approved for those with leukemia.
In a small study designed to look at how well Parkinson’s patients tolerated the drug, nilotinib, researchers found that low doses of the drug resulted in dramatic improvements in cognition, motor function and even some non-motor function symptoms like constipation. Researchers hypothesize that low doses of nilotinib may help reduce the build up of misfolded proteins in the brain.
Paul noted that these findings are intriguing and encouraging, but that this was a small uncontrolled study and much more research is needed to know how important a treatment this will ultimately be.
To learn more about 23andMe&#8217;s Parkinson&#8217;s Research Community go <a href="https://www.23andme.com/pd/" target="_blank" rel="noopener noreferrer">here</a>.

New Developments in Parkinson’s Diagnosis and Treatment

As federal regulators listened, patients told them of their symptoms – the sleepless nights, the days with uncontrollable tremors or the little struggles simply maintaining their balance.
<div id="attachment_22379" style="width: 210px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22379" class="size-medium wp-image-22379" src="https://blog-api.23andme.com/wp-content/uploads/2015/03/paul_bw-200x300.jpg" alt="Paul Cannon" 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" />Paul Cannon, 23andMe&#8217;s Parkinson&#8217;s Disease Program Manager.</div>
Some of those with Parkinson’s who spoke at the special U.S. Food and Drug Administration meeting in late September said they depended on drugs like Sinemet or therapies like deep brain stimulation to treat their symptoms. But they also noted that the randomness, variability, and unpredictability of their symptoms – and the side effects of treatments – have kept them constantly looking for more effective ways to deal with their Parkinson’s disease.
<h2>Hearing from Patients</h2>
Part of a series called the<a href="https://www.fda.gov/forindustry/userfees/prescriptiondruguserfee/ucm368342.htm"> Voice of the Patient</a>, which has included other meetings on topics such as breast cancer, sickle cell anemia, and HIV, the half-day session included input from dozens of individuals living with Parkinson’s and their caregivers, as well as overviews from the regulators. Hearing directly from those living with the disease and using treatments is a fresh approach.
“We strongly believe that the patient perspective is key to understanding how to approach and manage a disease and the development of new treatments,” said Paul Cannon, 23andMe’s Parkinson’s Disease Program Manager.
<h2>Unpredictability of Some Symptoms</h2>
One of those patients speaking at the session was Karl Robb, 48. Karl, who was diagnosed with Parkinson’s at 25, told the panel that it’s the unpredictability and severity of the symptoms that make it so difficult to live with the disease. He deals with it the best he can, maintains a healthy lifestyle, and swears by his vegetarian diet. But like many, he communicated the struggles of dealing with an ever-changing landscape of symptoms and the need for better drugs to battle back the effects of the disease.
Other patients echoed many of Karl&#8217;s points. They spoke about having to continually adjust their medicine based on how the disease progressed and their symptoms changed.
<h2>Drug Side Effects and Effectiveness</h2>
Often, patients said a drug lost effectiveness over time or triggered side effects that became more and more of a concern. For instance, Daniel Lewis, who was diagnosed with Parkinson’s disease 21 years ago, said that after taking Sinemet for eight years, he began to develop bad dyskinesia. While deep brain stimulation helped, it doesn’t address his speech and sleep problems, he said.
This was the kind of feedback that the FDA was after when the first started having these meetings. Officials at the agency said they realized that some of the best “data” on treatments and drug development comes directly from patients.
<h2>23andMe PD Research</h2>
In part, that is what drives 23andMe’s research model, where we invite individuals to participate in research. At the FDA meeting, our Paul Cannon drove that message home and shared with the agency some of the value of 23andMe’s online disease community and our own data from patients who have shared their experience with Parkinson’s.
Paul also spoke at the meeting and posted a<a href="https://blog-api.23andme.com/wp-content/uploads/2015/09/White-paper-for-FDA-PD-meeting-public-docket-Final.pdf?_ga=1.61852908.11442988.1396887568"> 23andMe white paper</a> summarizing findings from the 23andMe<a href="https://www.23andme.com/pd/"> Parkinson’s Disease Research Community</a> to the public docket.
23andMe now has the largest community of genotyped Parkinson’s patients, with more than 11,000 participants. These participants have not only been genotyped but also participate in surveys that track the progression of the illness, symptoms, and reactions to medication. The nature of the online community allows 23andMe to conduct research quickly and effectively, and it allows those with Parkinson’s who would otherwise be unable to participate in traditional research to become part of it.
<h2>What We&#8217;ve Learned So Far</h2>
What 23andMe researchers have learned from our Parkinson’s community includes a lot of important baseline kind of information such as the symptoms that have the greatest impacts on their lives – disturbed sleep, fatigue and pain – and how well their medication works throughout the day. There’s also a lot of information collected by 23andMe that helps put into perspective how isolating Parkinson’s can be for some patients and how it impacts their lives. For many, in fact, a majority of those surveyed, the self-reported impact of the disease on their quality of life on their excellent days was none too slight. This may reflect the relatively short duration (average 4 years from diagnosis) of the 23andMe cohort, but even so, this drops to less than half on their bad days, and a significant majority report an impact of the disease on family and social interactions.
According to the 23andMe findings, more than 80 percent of research participants said that current treatments work well or moderately well to handle their symptoms. Yet almost a quarter of participants reported that medication was effective only about 50 percent of the day or less, and significant numbers complained about wearing off (leading to a requirement for frequent dosing), lack of efficacy against specific symptoms, and bothersome side effects.
<h2>Learning from those with PD</h2>
Individuals living with Parkinson’s disease are all too aware that it is a progressive disorder, and in a response that was also stated several times at the FDA meeting, almost 80 percent of participants in 23andMe Parkinson’s Research Community said they want new treatments to slow or stop the progression of the disease.
This is the world that many of those living with Parkinson’s live in, one that includes hopes for the future, but also fears about how their illness will progress and whether current medication will remain effective.
Rebecca Houde, who spoke at the FDA meeting, said worries about her future. Only 33, she was first diagnosed at 24. She’s undergone deep brain stimulation surgery, has dealt with increasingly severe dyskinesia and has had some cognitive difficulties. To cope with some of her symptoms she takes small doses of Sinemet every hour and is also taking 14 other medications. All that leaves her wondering about how to stay ahead of her symptoms.

Patients Perspective on Parkinson’s Disease

A team of researchers has developed a simple and non-invasive approach that uses genetic data in combination with other demographic and biomarker information to <img loading="lazy" decoding="async" class="alignright wp-image-22635 size-medium" src="http://35.88.189.111/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg" alt="" width="287" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg 287w, https://blogcms.23andme.com/wp-content/uploads/2015/06/Brain-Logo.jpg 438w" sizes="auto, (max-width: 287px) 100vw, 287px" />accurately distinguish those with and without Parkinson’s disease, an illness that is notoriously difficult to detect.
<h6>New Predictive Model</h6>
In a study published this week in the journal <a href="https://www.thelancet.com/journals/laneur/article/PIIS1474-4422%2815%2900178-7/fulltext">Lancet Neurology</a>, the group detailed their findings showing how they used a small set of key data points to discern individuals with Parkinson’s from those who do not have the disease. The predictive model offers hope for earlier detection and diagnosis for the disease, according to the study.
“Accurate diagnosis and early detection of complex diseases, such as Parkinson’s, has the potential to be of great benefit for researchers and clinical practice,” the authors said.
<h6>Early Diagnosis is Important</h6>
Simply making a correct diagnosis of a progressive neurodegenerative disease like Parkinson’s can be very difficult, and take time. It’s often misdiagnosed and the result is that many patients do not get early treatment. Although there is not currently a cure for Parkinson’s, existing treatments have been able to significantly mitigate symptoms, and new treatments being tested now may help slow the progression of the disease. The earlier those treatments can begin, the better the prognosis. That makes early diagnosis that much more important. There currently is no cure for Parkinson&#8217;s so treatment has focused on slowing the progression of the disease and mitigating the symptoms.
&#8220;The model could have immediate application in helping refine cohorts used in clinical research,” said Paul Cannon, 23andMe’s Parkinson’s Research community manager. “With more data and further refinement, it may be able to contribute to better diagnosis of individuals with Parkinson-like symptoms and the identification of prodromal (pre-symptomatic) and &#8220;at risk&#8221; populations, which will be critical for the development of disease modifying therapies.&#8221;
<div id="attachment_22380" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22380" class="wp-image-22380 size-medium" src="http://35.88.189.111/wp-content/uploads/2015/03/paul-300x235.jpg" alt="" width="300" height="235" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-300x235.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-768x602.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-1024x802.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-880x689.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-1180x924.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul.jpg 2016w" sizes="auto, (max-width: 300px) 100vw, 300px" />Paul Cannon, 23andMe&#8217;s Parkinson&#8217;s Research Community manager.</div>
<h6>Multiple Inputs</h6>
This paper shows that a model, which combines genetic risk score, demographic and biomarker data, can more accurately discriminate individuals with Parkinson’s from healthy controls as compared to genetics alone. That is partly what makes this study so interesting.
Lead by scientists with the National Institutes of Health, the researchers tested their model against a group of more than 1000 individuals, some with Parkinson’s and some without the disease. Researchers from 23andMe, the Michael J. Fox Foundation, the University of Pennsylvania and the University of Rochester Medical Center also participated in the work.
The researchers also tested their model against another set of patients who had had image scans of their brain. This is referred to as Scans Without Evidence of Dopaminergic Deficit, or SWEDD. The model classified 17 patients as having Parkinson’s and within the first year, four of them developed the disease. Only one of the 38 patients the model classified as not having Parkinson’s developed the disease in the same time frame.
<h6>23andMe&#8217;s Parkinson&#8217;s Research Community</h6>
The model includes genetic risks, family history, age, and gender. It also includes some biomarkers such as the ability to detect certain smells into account in diagnosing Parkinson’s. The information used in the model can be gathered remotely. That means participants do not have to visit a medical center, patients can send in saliva for genetic testing. They can then answer online surveys regarding family history, the study authors said.
After they created an algorithm using this information, the scientists then tested it. They used data on individuals from five different study groups, including 23andMe’s Parkinson’s Research Community. What they found was that in each case their method had a very high accuracy rate for predicting Parkinson&#8217;s. The model accurately classified Parkinson’s in patients more than 90 percent of the time. The model also did well classifying different Parkinson’s subtypes.
The researcher used many methods of validating the results. Those include using data from 23andMe’s LRRK2 biomarker cohort, and the data from the Parkinson’s Progression Marker Initiative.
The researchers found not only a new highly accurate method of diagnosing Parkinson’s, but also one that significantly outperformed any single-classifier method of diagnosing.
The study authors believe that with further refinement the tool may be useful for screening and diagnosing. It may also help in differentiating Parkinson’s disease from other neurological conditions. <img loading="lazy" decoding="async" class="aligncenter wp-image-22634 size-large" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/Parkinsons-Research-Community-640x238.jpg" alt="Parkinson's Research Community" width="640" height="238" />

A New Model for Discerning Parkinson’s

Over the last year, three promising new treatments for symptoms of Parkinson’s became available in the United States, but progress has been less hopeful on the development of drugs to modify the progression the disease, according to researchers who spoke at an annual movement disorders conference in San Diego last month.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-22380" src="https://blog-api.23andme.com/wp-content/uploads/2015/03/paul-300x235.jpg" alt="paul" width="300" height="235" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-300x235.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-768x602.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-1024x802.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-880x689.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul-1180x924.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul.jpg 2016w" sizes="auto, (max-width: 300px) 100vw, 300px" />
<a href="https://blog.23andme.com/23andme-research/22378/">23andMe’s Paul Cannon</a>, PhD, who serves as the manager for our <a href="https://www.23andme.com/pd/">Parkinson’s Research Community</a>, was among the thousands of attendees at the massive 19th International Congress of Parkinson’s Disease and Movement Disorders in San Diego. The four-day event attracts scientists, clinicians and medical professionals from around the world, giving them an opportunity to share the latest treatments and the newest research into Parkinson’s disease.


“In terms of treatments for Parkinson’s it was a mixed bag,” said Paul.
While new options for the treatment of symptoms in the form of gels, skin patches, intestinal pumps,<a href="http://www.mdscongress2015.org/Congress-2015/Press/News-Releases/260-Inhaled-Levodopa.htm"> inhalers</a> and even<a href="http://webcache.googleusercontent.com/search?q=cache:WZ8TqAwG5C4J:www.mdscongress2015.org/Congress-2015-Files/pdfs/2015LateBreakingAbstractsPubDoc.pdf+&#038;cd=2&#038;hl=en&#038;ct=clnk&#038;gl=us"> deep brain stimulation</a>, offer Parkinson’s patients new ways for quickly treating certain symptoms, Paul noted that researchers also reported some setbacks in the development of other treatments that many had hoped could slow the progress of the disease. The use of gels, skin patches, pumps and inhalers are used for better delivery of the drugs levodopa and carbidopa, which effectively treat motor function symptoms for Parkinson’s patients. Paul said there is also some interesting clinical studies around non-levodopa drugs such as safinamide and rivastigmine, but there was little new to report around treatment for the progression of the disease.
“In terms of disease modifying therapies it was a much less successful year,” Paul said.


Probably the most notable setback in the drug development pipeline was the news around the<a href="http://jama.jamanetwork.com/article.aspx?articleid=2108890"> halt of a late stage study of creatinine</a>, an amino acid that researchers thought could help protect nerve cells in Parkinson’s patients. But the study was stopped because interim data showed the treatment didn’t help patients any differently than those treated with a placebo. Another disappointment was around the<a href="http://www.thelancet.com/journals/laneur/article/PIIS1474-4422%2815%2900144-1/abstract"> failure of the drug pioglitazone</a>. In Paul’s assessment of the study for pioglitazone, there was some indication from biomarkers that the drug could still hold benefits if used at a different doses.
But in his time at the conference Paul said there were several presentations that indicate there are also some studies currently in the drug development pipeline. He singled out three that are either in phase three development or about to start – studies into the drugs<a href="https://clinicaltrials.gov/ct2/show/NCT02168842"> isradipine</a>,<a href="https://www.michaeljfox.org/foundation/grant-detail.php?grant_id=403"> inosine</a> and<a href="https://www.michaeljfox.org/foundation/grant-detail.php?grant_id=1124"> exanatide</a>.
Others therapies to pay attention to, according to Paul, are two in early development that target alpha-synuclein – an antibody from the drug company Prothena, and a vaccine from Affiris.
If you’ve paid much attention to research into Parkinson’s you’ll know that a lot of focus has been on the role alpha-synuclein plays not just in Parkinson’s but also other neurodegenerative disorders. Alpha-synuclein is a protein that is primarily found in brain tissue. In Parkinson’s patients this protein clumps together in the brain. Warren Olanow, an MD and professor of neuroscience at Mount Sinai, discussed some of theories on the best therapeutic approaches to deal with this from using antibody based treatments to systems of either blocking the clumping or reducing the gene expression of alpha-synuclein.


Working at 23andMe, where our researchers have done several genome wide association studies that helped uncover new genetic associations with Parkinson’s, Paul said he was struck by some of the information presented by Andy Singleton, of the National Institutes of Health. Although studies indicate that as much as 30 percent of the risk for the most common type of Parkinson’s is genetic, the genetic variants found so far account for only about five percent of that risk. Even though genome wide association studies were used to discover 28 known variants associated with Parkinson’s disease, Singleton favors the use of whole genome sequencing as a better approach to find the remaining genetic variants. (23andMe is working on a multi-year study with Genentech to sequence 3,000 Parkinson’s patients to learn about the genetic underpinnings of the disease.)


In another promising presentation, the researcher Haydeh Payami, PhD at UC Berkeley and a joint faculty member at the<a href="http://hudsonalpha.org/research/faculty-and-projects/faculty-profiles"> HudsonAlpha Institute</a>, reported on a nice example of gene environment interaction, Paul said. Looking at caffeine consumption and genetic risk, Payami’s research found that drinking coffee in general can reduce one’s risk for Parkinson’s by 30 percent. But for individuals with certain genotypes in two genes – GRIN2A and MAPK10 – caffeine consumption did little to reduce their risk for Parkinson’s. Yet when Payami looked at the 7 percent of individuals who had the less common genotypes in both of those genes coffee consumption was “highly protective.”


“In summary whilst lack of progress in the clinic is disappointing, continued insights into the underlying disease mechanisms from genetics and other routes of investigation, gives hope that we will see an increasing number of rationally targeted therapies being tested in well designed studies,” Paul said of what he learned at the conference. “Resources such as 23andMe Parkinson’s Research Community are a key part of this on-going research effort.”
<img loading="lazy" decoding="async" class="aligncenter wp-image-22634 size-large" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/Parkinsons-Research-Community-640x238.jpg" alt="Parkinson's Research Community" width="640" height="238" />

Parkinson's Disease — Page 4