<img loading="lazy" decoding="async" class="alignright size-medium wp-image-11763" title="InVite Study Page" src="https://blog-api.23andme.com/wp-content/uploads/2012/03/InVite-Study-Page-300x117.jpg" alt="" width="300" height="117" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/InVite-Study-Page-300x117.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/03/InVite-Study-Page-768x300.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/03/InVite-Study-Page-1024x400.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/03/InVite-Study-Page-880x344.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/03/InVite-Study-Page.jpg 1128w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Earlier this year 23andMe and Genentech launched <a href="https://www.23andme.com/invite-study/">an online study of metastatic breast cancer</a> to learn more about how genes might play a role in how a person responds to bevacizumab, also known as Avastin ®. (Avastin ® is not approved by the FDA for treatment of metastatic breast cancer.)
Since women began to sign up to participate in the study, we’ve expanded eligibility to offer more women the opportunity to participate.
We’ll be posting a few stories from patients and advocates about the study in the coming days.
We’re hoping to recruit 1,000 women living in the United States who’ve been diagnosed with metastatic breast cancer and who started treatment with bevacizumab before Jan. 1, 2012.
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-14706" title="InVite-ad1" src="https://blog-api.23andme.com/wp-content/uploads/2012/07/InVite-ad1-300x158.png" alt="" width="300" height="158" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/07/InVite-ad1-300x158.png 300w, https://blogcms.23andme.com/wp-content/uploads/2012/07/InVite-ad1-768x405.png 768w, https://blogcms.23andme.com/wp-content/uploads/2012/07/InVite-ad1-880x464.png 880w, https://blogcms.23andme.com/wp-content/uploads/2012/07/InVite-ad1.png 1025w" sizes="auto, (max-width: 300px) 100vw, 300px" />
This study does face some challenges, but we’re being helped by our partners that include the Avon Foundation for Women, <a href="http://www.breastcancer.org/">BreastCancer.Org</a>, <a href="http://www.lbbc.org/">Living Beyond Breast Cancer</a>, the <a href="http://mbcn.org/">Metastatic Breast Cancer Network</a>, the <a href="http://www.tnbcfoundation.org/">Triple Negative Breast Cancer Foundation</a>, the <a href="http://www.cancersupportcommunity.org/">Cancer Support Community</a> and <a href="http://www.facingourrisk.org/">Facing Our Risk for Cancer Empowered</a> (FORCE). Together we believe we can recruit women interested in joining this study.
If you have metastatic breast cancer, please consider joining this innovative study. If you know someone with metastatic breast cancer, refer her to the <a href="https://www.23andme.com/invite-study/" target="_blank" rel="noopener noreferrer">link so she can find out more</a>.
23andMe’s research model holds promise because we can recruit people to participate in a study much faster than traditional methods. Our model can also eliminate some of the traditional obstacles that block people from participating in clinical trials. By combining participants&#8217; genetic data with survey responses, we hope to discover new genetic markers for diseases, and understand why some people respond to treatment more readily than others. This information also helps our researchers explore how a person’s health is influenced by the interactions between genetics and the environment. (While this study may generate important scientific findings, participants should not expect to personally benefit from it, as the findings will not change how they are or have been treated for their disease.)
23andMe has already <a href="https://www.23andme.com/about/press/sgk1/">seen encouraging results</a> in other ongoing research projects. We’re hopeful that this opportunity to work with Genentech in this first-of-its-kind clinical trial will yield promising results.
For more information about the InVite study email invite-study@23andme.com.

23andMe Blog

23andMe Blog Team

Participating in Metastatic Breast Cancer Research

<img loading="lazy" decoding="async" class="alignright wp-image-6586 size-medium" title="23andMe_Logo_blog" src="http://35.88.189.111/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg" alt="An image of the 23andMe logo." 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" />
Today 23andMe <a href="https://www.23andme.com/about/press/fda_application/">announced</a> that we’ve submitted our first round of 510(k) documentation to the U.S. Food and Drug Administration (FDA). The application provides a detailed description of our Personal Genome Service ®, extensive data supporting the performance of our technology, and comprehensive discussions of the science supporting the information we present to customers about their genetics and its impact on health.
Not too long ago personal genomics was a new idea. Consumer personal genomics was even more novel &#8212; the idea that everyone, not just doctors and researchers or those with special health needs, could know what was in their DNA. What wasn’t new was the desire to improve our knowledge of what all that DNA means and for that knowledge to make a difference in people’s lives.
We started 23andMe six years ago with those goals in mind and since then more than 150,000 people have joined us to learn more about what&#8217;s in their bodies and to contribute to our innovative research platform. Already our growing research community has made discoveries in many diverse topics, including the photic sneeze reflex, male pattern baldness, and Parkinson’s disease.
As with anything new and potentially disruptive, there have also been concerns. The FDA responded to some of these concerns by indicating that direct-to-consumer genetic testing services require regulatory review to remain on the market. We remain strong in our belief that consumers have a fundamental right to their personal genetic data. We believe personal genetic data will power a revolution in healthcare. But we also recognize that appropriate oversight of this industry can be a stepping stone on the path to realizing that revolution.
For the last three years we have worked with FDA to apply their regulatory approach to direct-to-consumer genetic testing. It is important to us that a regulatory framework for genetic testing reflect the dynamic nature of genetic science and protect individual access. What we know about the genome changes every day. If we want our genetic information to be current, there needs to be a way for us to update that information quickly.
We are confident that our initial application to the FDA is complete and comprehensive. Being the first in the industry to announce we are actively working toward FDA clearance of our direct-to-consumer service demonstrates our commitment to make personal genetics an integral part of routine healthcare without sacrificing people’s right to access information about themselves. Our goal is to remain the world’s trusted source of genetic information &#8212; not just for people with a doctor’s order, but for everyone regardless of why or how they choose to learn about their DNA. DNA is fascinating, but it’s even more fascinating when it’s about you.

23andMe Takes First Step Toward FDA Clearance

<img loading="lazy" decoding="async" class="alignright wp-image-4013 size-full" title="geneticresearch7" src="http://35.88.189.111/wp-content/uploads/2009/07/geneticresearch7.jpg" alt="" width="350" height="268" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearch7.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearch7-300x230.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
Team 23andMe will again have a strong presence at the annual meeting of the American Society of Human Genetics.
We’ve been at this gathering of geneticists and those interested in human genetics ever since 23andMe launched, but this year with the 62nd annual meeting being held in San Francisco – sort of our backyard – we’ll be there en masse.
Each year the annual meeting attracts the best and brightest in human genetics with thought-provoking displays of research results and stimulating discussions. This year is no different and more than 6,000 people are expected to attend over the four days starting on November 6th.
Along with the 24 scientific sessions – including panel discussions featuring our Senior Director of Research Dr. Joanna Mountain, who will discuss research partnerships between academics and private companies, and Science Content Manager Dr. Shirley Wu, who will speak on the use of social media in research  – there are also 400 presentations drawn from abstracts submitted by scientists from around the world.
This year 23andMe submitted almost two dozen abstracts on a wide range of topics including our groundbreaking and first-ever genome-wide association study on sexual orientation, as well as preliminary findings from our<a href="../announcements/exomes-the-first-of-many/"> Exome Pilot</a>, which is the first exome sequencing offered directly to consumers. (We will link to these abstracts when they’re available on the ASHG website.)
Also reported in one of the abstracts are some of our findings from a full-genome sequencing project on 50 people with the LRRK2 G2019S mutation associated with Parkinson’s disease. We’ll also have details of a study that looks at an association with hypertrophic cardiomyopathy, the leading cause of sudden cardiac death in young athletes.
Being 23andMe we also have some less serious – but no less interesting – abstracts looking at such things as genetic associations with motion sickness, over 250 genetic associations with common traits such as baldness and unibrow, whether DNA can explain why some women get stretchmarks and others don’t, as well as why some people love cilantro and others think it tastes like soap.
We’re pretty excited by the upcoming conference.
We are particularly proud of our colleague, Dr. Uta Francke, who will deliver a presentation as recipient of the 2012 ASHG William Allan Award. As always the gathering will not just be a chance for us to present some of the interesting results from our research, but also to learn from others. There’s some fun stuff too, including a symposium on “Human Genetics in Contemporary Poetry, Fiction, and Art: How Humanists View our World,” and meeting will close with a forward looking symposium on the future of human genetics.
The preliminary 2012 Meeting schedule is now available. While we can’t wait for the meeting, we’re even more excited about sharing some of the interesting findings and breakthroughs we’ve made with the help of our customers. In the coming weeks we’ll collect information on all the 23andMe presentations onto a single web page so you can find them easily.
Stay tuned for more information about 23andMe’s presence at ASHG.
We’ll have a booth in the Exhibit Hall, and knowing our scientists, they’ll manage to squeeze a party in there too.

Highlighting 23andMe Research at ASHG 2012

Editor&#8217;s Note: This post does not reflect the <a href="https://www.23andme.com/topics/health-predispositions/hereditary-hemochromatosis/">current product offering</a> for customers in the United States. 
Mutations in the HFE gene cause most forms of <a href="https://www.23andme.com/topics/health-predispositions/hereditary-hemochromatosis/">hereditary hemochromatosis</a> – a common genetic condition that increases a person’s risk for iron overload and can lead to liver disease, arthritis and heart problems. HFE-related hemochromatosis is recessive, meaning that you must inherit a mutated gene from each parent to have the condition.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-27487" src="https://blog-api.23andme.com/wp-content/uploads/2012/07/HFE-300x177.jpg" alt="" width="300" height="177" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/07/HFE-300x177.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/07/HFE-768x452.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/07/HFE-1024x603.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/07/HFE-880x518.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/07/HFE-1180x695.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2012/07/HFE.jpg 1708w" sizes="auto, (max-width: 300px) 100vw, 300px" />
23andMe customers have long been able to find out their results for two hemochromatosis-causing mutations in the HFE gene: the C282Y mutation and the milder H63D mutation. We’ve now updated our report to include results for a third mutation (S65C) in the genetic results table. The report was also updated to reflect current scientific consensus and to be clearer for our customers.
All three of these mutations are relatively common – 10-30% of people with European ancestry have at least one of them. But only people with two copies of C282Y (or one C282Y mutation plus one H63D or S65C mutation) are prone to accumulating too much iron. 

<div style="float: right; text-align: justify; width: 300px; background-color: #eee; padding: 10px; margin-left: 15px; margin-bottom: 15px; font-size: 12px;">
Why is Hemochromatosis so Common? 
Roughly one in 300 people with European ancestry has hereditary hemochromatosis. Rates are even higher in certain groups such as Irish, Australian, and Swedish.
The fact that hereditary hemochromatosis is so common has prompted scientists to speculate that despite the dangers of high iron levels, there was at some point in the evolutionary past an advantage to having the genetic change that underlies this condition.
Several (currently unproven) theories have been proposed.
<ul>
<li>Variation in the HFE gene arose as people began farming and increased their consumption of cereal grains, which are lower in iron than red meat that predominated in stone age diets.</li>
</ul>
<ul>
<li>Increased iron levels were advantageous because they protect women against iron deficiency brought on by menstruation and childbirth.</li>
<li>Another theory takes into account the fact that hemochromatosis actually leads to a reduction of iron levels in a certain immune cell (the macrophage), which in turn may have given people an advantage by making them resistant to certain infections.</li>
</ul>
</div>
It can sometimes be confusing to interpret your results for this condition because most people prone to iron overload never show outward signs of the condition. Symptoms also vary widely – from fatigue, to hormone problems, to heart and liver disease – and are influenced by a person’s mutation type, sex, and diet. Age also plays a big role since iron can accumulate in the body over time – if symptoms develop at all, they typically appear later in life between the ages of 40 and 60 in men and after menopause in women.
So what does it mean if you have two mutations linked to hemochromatosis and what should you do with this information?
The short answer is that further testing is recommended. Physicians can order blood tests to measure transferrin saturation and serum ferritin levels in blood, which together provide a good picture of iron absorption and storage in the body. If these markers are elevated, additional testing to determine the impact on organs may also be warranted.
The good news is that the serious symptoms linked to this condition are very rare and highly preventable. Finding out that you have two mutations in the HFE gene early in life can help you make lifestyle changes under the guidance of your physician – forgoing iron supplements and cutting back on iron-rich food – and/or undergo simple treatments to prevent symptoms from developing in the future.
Find out more about Hereditary Hemochromatosis <a href="https://www.23andme.com/topics/health-predispositions/hereditary-hemochromatosis/">here</a>.
July is National Hemochromatosis Month. Check out other posts on this condition: 
&#8211;<a href="../inside-23andme/learning-about-my-risk-for-iron-overload/">Learning About My Risk for Iron Overload</a> 
&#8211;<a href="https://blog.23andme.com/articles/the-iron-scale-factors-tipping-towards-overload"> The Iron Scale: Factors Tipping Towards Overload</a> 
&#8211; <a href="../inside-23andme/health-2/blood-simple/">Battling Against A Common Genetic Disease</a> 
&#8211;<a href="../inside-23andme/health-2/the-most-common-genetic-disease/"> The Most Common Genetic Disease</a>

Updated Results for Hereditary Hemochromatosis

<img loading="lazy" decoding="async" class="alignright wp-image-6395 size-medium" title="sarcoma-large" src="http://35.88.189.111/wp-content/uploads/2010/04/sarcoma-large-300x248.jpg" alt="" width="300" height="248" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/04/sarcoma-large-300x248.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/04/sarcoma-large.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Each person who has joined 23andMe’s<a href="https://www.23andme.com/sarcoma/"> Sarcoma research community</a> has their own reasons for participating, but they all share the same hopes that we have – to find the causes for sarcoma and new treatments for this rare cancer.
Earlier this month, 23andMe took an important step in that direction when we topped our goal of enrolling 1,000 people in our Sarcoma research community. We’re ecstatic that this group is not only one of the world’s largest cohorts of people with the disease, it is also at a size that lends power to the research.
It wouldn’t have been possible without people like Tracy Ceperley of British Columbia.
“My hopes are to find the (the genetic mutations) responsible for sarcoma,” said Tracy. “And maybe find a cure for the cancer before it happens (to others) or at least help fight this rare and harsh cancer.”
Sarcomas are an uncommon and complex group of cancers affecting the bone, cartilage, muscle and other soft connective tissue in the body.  About 14,000 people a year in the United States are diagnosed with sarcomas, but they amount to a very small fraction of the 1.4 million cancers diagnosed in the US each year. Individually sarcomas are very different from one another. All this combines to complicate research and drug development for the disease.
That’s where our Sarcoma research community comes in. In two years we’ve created a research cohort that gives sarcoma patients an opportunity to participate in a study from anywhere in the world with web access. It’s as easy as spitting in a tube, mailing it in, and answering questions online, all from the comfort of home. We aim to leverage our online tools and novel research platform to make breakthroughs in genetic research for this rare disease.
“We hope that this project yields new data, coupled with information from similar efforts elsewhere, that can be used for the benefit of people who need treatment for these rare cancers,” said Dr. Robert Maki, a sarcoma medical oncologist and one of the unpaid advisors on our independent Sarcoma Scientific Advisory Committee.
Along with Dr. Maki, we are fortunate that our advisory committee also includes George Demetri, MD, Judy Garber, MD, MPH, and Mark Robson, MD, who have all expressed similar hopes for the research.
“In research in general the quality of the community is important,” <a href="../inside-23andme/talking-about-sarcoma-with-george-demetri/">Dr. Demetri told us recently</a>. “The engagement of the community is important. It’s not just the number. But it is incredibly helpful to be able to have dialogue back and forth between the patients, doctors and researchers. Patients also want to be able to reach out to other patients. . . Having patients participate as part of the research will teach us a lot. It’s to the patients advantage to help us hone the data we’re collecting and to have the patients voice in there.” 
We expect the next few years to be important in helping oncologists determine genetic and non-genetic risk factors that predispose people to developing sarcomas. As that research goes on our community members can explore other aspects of their DNA using 23andMe’s tools for ancestry, health and traits.
This is an engaged and active community; something researchers will tell you is vital to success. Many members participate in our discussion groups and over 80 percent have completed important surveys. Researchers and patients both benefit from more open communication, not just because it offers an opportunity to share important medical information, but because it puts a human face on both sides of the research.
Last summer, we had a chance to<a href="https://www.23andme.com/sarcoma/videos/"> meet directly</a> with some of members of our Sarcoma community. For our scientists those exchanges helped bring home the importance of their work. We’re hopeful for results, but in the meantime, as community member Tracy Ceperley says to others diagnosed with sarcoma: 
“Stay strong and courageous, each day is a gift.”

A Milestone in Sarcoma Research

Bethann is a Health Content Scientist at 23andMe and regular contributor to the Blog. The following is her story about finding out she has a genetic condition that puts her at risk for iron overload.
<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-14551" title="photo" src="https://blog-api.23andme.com/wp-content/uploads/2012/07/photo1-300x194.jpg" alt="" width="300" height="194" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/07/photo1-300x194.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/07/photo1-768x498.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/07/photo1-1024x664.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/07/photo1-880x570.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/07/photo1-1180x765.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2012/07/photo1.jpg 1580w" sizes="auto, (max-width: 300px) 100vw, 300px" />
When I received my 23andMe results my initial reaction was that of relief and curiosity – only slightly increased risk for heart disease, heightened ability to taste bitter food, and slow metabolizer of caffeine. This all seemed reassuring and interesting until I discovered that I’d also inherited two mutations for <a href="https://www.23andme.com/topics/health-predispositions/hereditary-hemochromatosis/">hereditary hemochromatosis</a>, also known as iron storage disease.
At first, I didn’t know what this meant for my health. My particular combination of mutations – one severe C282Y mutation in the HFE gene (a gift from my mother) combined with the much rarer and less severe S65C mutation (courtesy of my father) – only posed a slight risk for developing iron overload. And being a pre-menopausal woman lowered my risk profile even further because women naturally lose iron through menstruation.
Still, I decided to share the information with my physician to see if follow up testing was warranted. She ordered transferrin saturation and serum ferritin tests, which together provide a good picture of iron absorption and storage in the body, and the results revealed that my transferrin saturation was too high (54%). This result didn’t point to overload per se, but it did prompt me to take a step back and look at my lifestyle.

<div style="float: right; text-align: justified; width: 200px; padding: 15px; border: 1px solid #ccc; margin-left: 10px;"><a href="https://www.23andme.com/topics/health-predispositions/hereditary-hemochromatosis/">Hemochromatosis</a> affects an estimated one in every 300 Americans of European ancestry, but many who have it are unaware. Undiagnosed it can quietly lead to iron overload – a serious medical condition. Early detection of the condition is important  – knowing your family history and whether you have a genetic risk for iron overload can help you and your doctor decide whether further  testing is warranted. Lowering iron levels can be done relatively simply by having blood drawn regularly. Changes in diet can also help maintain safe levels of iron. 
</div>
I’d been taking a daily multivitamin with iron for a few months – something I’d only sporadically done in my life – and I promptly stopped taking it. Knowing that I could be absorbing a lot of iron from my uncoated cast iron pan, a family heirloom used for generations in my husband’s family, I moved it to the back shelf. I also decided that it couldn’t hurt to cut back on iron-rich red meat and shellfish and to stop eating iron-fortified cereal for breakfast.
A few months later another iron panel was ordered and I was happy to see that my transferrin saturation had gone down to 25%, a very safe level (on both occasions my serum ferritin was in the normal range). But it wasn’t until I met with a hematologist that I gained a clear understanding of what my genetic results meant for my health.
When I tried to apologize to the hematologist for walking into his office “healthy”, he reassured me that I was doing the right thing and that prevention is key. We discussed my combination of mutations and he advised me to have my transferrin saturation and serum ferritin levels checked every two years. He also said that the game plan could change when I go through menopause and lose my natural way of expelling iron.
My hematologist also confirmed my decision to forgo iron supplementation and agreed that the cast iron pan was probably better off on the back shelf. He did think, however, that I should see how much control I have over the amount of iron I absorb through my diet and suggested that I begin eating some iron-rich food and then get another iron panel. I’m in my thirties and I’d prefer to know now whether my love for red meat and shellfish is out of the question or if moderate consumption is just fine.
It’s pretty clear that I don’t have much to worry about at the moment since simple lifestyle changes have pushed my iron markers into the healthy range. What has become obvious, though, is that my genetic predisposition for iron overload isn’t just about my health: it’s also about my family. I have two older brothers who could be at risk for hemochromatosis and I’m now in the process of getting them tested. There’s only a 25% chance that each of them also inherited these two mutations, but that’s not a chance that I want to take, especially since simple actions can make a world of difference for those at risk for iron overload.
July is National Hemochromatosis Month. Check out other posts on this condition:
 &#8211; <a href="https://blog.23andme.com/articles/the-iron-scale-factors-tipping-towards-overload">The Iron Scale: Factors Tipping Towards Overload</a> 
 &#8211;  <a href="https://blog.23andme.com/articles/blood-simple" rel="bookmark">Battling Against A Common Genetic Disease</a> 
&#8211;<a href="https://blog.23andme.com/articles/the-most-common-genetic-disease" rel="bookmark"> The Most Common Genetic Disease</a>
<div style="padding: 10px; margin-top: 15px; margin-bottom: 15px; font-size: 12px; border: 1px solid #ccc;">
<img loading="lazy" decoding="async" class="alignleft size-full wp-image-12163" src="https://blog-api.23andme.com/wp-content/uploads/2012/04/JRBgdIBXKIeVIdETJrxYIw_ttam_logo.jpg" alt="" width="24" height="40" />
View your results for more genetic factors linked to hemochromatosis in your account. 
Not yet a customer? <a href="https://www.23andme.com/store/cart/">Visit our store!</a>
</div>

Learning About My Risk For Iron Overload

<img loading="lazy" decoding="async" class="aligncenter wp-image-14448 size-full" title="EMD_Iowa_highres" src="http://35.88.189.111/wp-content/uploads/2012/07/EMD_Iowa_highres.jpg" alt="" width="1978" height="2106" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/07/EMD_Iowa_highres.jpg 1978w, https://blogcms.23andme.com/wp-content/uploads/2012/07/EMD_Iowa_highres-282x300.jpg 282w, https://blogcms.23andme.com/wp-content/uploads/2012/07/EMD_Iowa_highres-768x818.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/07/EMD_Iowa_highres-962x1024.jpg 962w, https://blogcms.23andme.com/wp-content/uploads/2012/07/EMD_Iowa_highres-827x880.jpg 827w, https://blogcms.23andme.com/wp-content/uploads/2012/07/EMD_Iowa_highres-1108x1180.jpg 1108w" sizes="auto, (max-width: 1978px) 100vw, 1978px" />23andMe&#8217;s Emily Drabant, PhD, speaking at a Parkinson&#8217;s event in Iowa.
23andMe is tantalizingly close to reaching the goal of enrolling 10,000 patients in our<a href="https://www.23andme.com/pd/"> Parkinson’s research community</a>.
We’re past the 8,000 mark and the pace of enrollment is now more than two-and-a-half times what was a year ago, but we’re not there yet. Getting to 10,000 is important because as any researcher will tell you, there is strength in numbers. Having what is already the world’s largest Parkinson’s community for genetic research helped us discover new genetic variants associated with Parkinson’s – including a potentially protective factor.
While we’ve already dramatically accelerated the pace of Parkinson’s research, we still have much work to do both in better understanding the disease and in finding new treatments.
Later this month, Emily Drabant, PhD, 23andMe’s research manager for our<a href="https://www.23andme.com/pd/"> Parkinson’s community,</a> will speak at the<a href="http://my.clevelandclinic.org/brain_health/default.aspx"> Cleveland Clinic’s Lou Ruvo Center for Brain Health</a> in Las Vegas about 23andMe’s unique patient-centered research model, what we know about the genetics of Parkinson’s and some of the latest advances in Parkinson’s research. The presentation is specifically for patients at the Cleveland Clinic, which is one of our Parkinson’s research collaborators. We’re recruiting 1,000 Parkinson’s patients from the Cleveland Clinic for a sub-study that will integrate clinical data with genetics.
<img loading="lazy" decoding="async" class="aligncenter wp-image-4013 size-full" title="geneticresearch7" src="http://35.88.189.111/wp-content/uploads/2009/07/geneticresearch7.jpg" alt="" width="350" height="268" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearch7.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearch7-300x230.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
Parkinson’s is an extremely complex disease. Uncovering more about the role genetics plays in Parkinson’s could provide valuable information about the development of the disease and how to combat it. Last year 23andMe found<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002141"> two new genetic associations</a> with Parkinson’s and more recently found a genetic variant in the gene SGK1 that is potentially protective against the disease. With the help of the Michael J. Fox Foundation,<a href="http://www.scripps.edu/newsandviews/e_20111031/lograsso.html"> the Scripps Research Institute</a> is following up the SGK1 discovery with lab studies that we hope will lead to new treatments.
We hope to add more breakthroughs as we reach our goal of 10,000 members in the Parkinson’s Research Community.
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Participate in research!<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-12404" style="margin-bottom: 10px;" title="Parkinson's disease fight arm" src="https://blog-api.23andme.com/wp-content/uploads/2012/04/pd_fist_300px-150x150.png" alt="" width="125" height="125" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/04/pd_fist_300px-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2012/04/pd_fist_300px-271x271.png 271w" sizes="auto, (max-width: 125px) 100vw, 125px" />
<div>As a member of 23andMe, you can participate in research simply by taking <a href="https://www.23andme.com/you/23andwe/surveys">surveys</a>. If you have Parkinson&#8217;s disease or know someone who does, learn more about joining our <a href="https://www.23andme.com/pd">Parkinson&#8217;s Disease</a> initiative!</div>
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Of course, the success of the 23andMe’s Parkinson’s Community has come with the help of some very active members of the community, including more than 200 Parkinson’s “Ambassadors,” who’ve helped spread the word about the research. 23andMe has also received the support of some great people, Michael J. Fox and Muhammad Ali, who have both lent their efforts to the cause. Finally we’ve been helped by some fantastic partners like the Cleveland Clinic, the<a href="https://www.michaeljfox.org/"> Michael J. Fox Foundation</a>, the<a href="http://www.thepi.org/"> Parkinson’s Institute</a>, the National Parkinson Foundation, the Parkinson’s Association of San Diego, the Cure Parkinson’s Trust and Parkinson’s UK.

23andMe’s Parkinson’s Community is Almost There

<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-14268" title="Just Hands" src="https://blog-api.23andme.com/wp-content/uploads/2012/07/Just-Hands-300x199.jpg" alt="" width="300" height="199" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/07/Just-Hands-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/07/Just-Hands.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Janssen Healthcare Innovation, a unit of Janssen Research &amp; Development, LLC, is sponsoring a study in <a href="https://www.23andme.com/health/Rheumatoid-Arthritis/techreport/" target="_blank" rel="noopener noreferrer">rheumatoid arthritis </a>patients that will be conducted by <a href="http://www.mediguard.org/" target="_blank" rel="noopener noreferrer">MediGuard.org</a> (a subsidiary of Quintiles) and 23andMe.
The study, called TogetherRA, will enroll approximately 1,000 patients who are currently receiving or have previously received anti-TNF-alpha therapeutics for their rheumatoid arthritis. MediGuard.org will recruit patients directly out of its 2.7 million member patient community and, with patients’ consent, will gather information related to patients’ diagnosis and response to treatment from medical records.
<a href="https://www.23andme.com/research/" target="_blank" rel="noopener noreferrer">23andMe</a> will be responsible for genotyping patients, collecting patient-reported outcomes data, integrating medical record data, as well as conducting a genome-wide analysis that will explore genetics and patients&#8217; response to anti-TNF-alpha therapeutics. Notably, all participants in this study will receive access to their own genetic data. 23andMe is excited to conduct this important research in rheumatoid arthritis.
<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-14279" title="togetherRA-graphic 2" src="https://blog-api.23andme.com/wp-content/uploads/2012/07/togetherRA-graphic-2-300x94.jpg" alt="" width="300" height="94" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/07/togetherRA-graphic-2-300x94.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/07/togetherRA-graphic-2-768x241.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/07/togetherRA-graphic-2-1024x322.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/07/togetherRA-graphic-2-880x276.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/07/togetherRA-graphic-2.jpg 1089w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Janssen Healthcare Innovation is sponsoring this study as part of its initiative to explore a direct-to-patient research model and utilize novel ways to conduct research and support an empowered patient experience.

Leveraging The Direct-to-Patient Research Model in Rheumatoid Arthritis

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<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-14357" title="Spinach can with Popeye" alt="" src="https://blog-api.23andme.com/wp-content/uploads/2012/07/Spinach-can-with-Popeye-300x225.jpg" width="300" height="225" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/07/Spinach-can-with-Popeye-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/07/Spinach-can-with-Popeye.jpg 500w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Some of us may have grown up thinking that spinach is a good source of iron, but this isn&#8217;t exactly true. It&#8217;s been said that a report from the 1800&#8217;s mistakenly claimed that the vegetable has 10 times more iron than it actually has. It&#8217;s also known today that spinach contains the molecule oxalic acid, which can inhibit the absorption of iron. The <a href="http://www.webmd.com/diet/features/top-10-iron-rich-foods">amount of iron in spinach</a> is on par with other dark, leafy green vegetables. 
Image by <a href="https://www.flickr.com/photos/icanchangethisright/">bradleygee</a> 
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Popeye&#8217;s love for spinach was once a symbol of humans’ need for iron and it’s true that many individuals are at risk for anemia, especially <a href="http://health.nytimes.com/health/guides/disease/anemia/risk-factors.html">young children and pre-menopausal women</a>.
For this reason a number of countries market iron-fortified foods (a single serving of Post Grape-Nuts provides 90 percent of the daily dose of iron) and many multivitamins contain iron.
But while all humans need iron to survive, some people need less than others. Roughly one in 300 people with European ancestry has a genetic condition called hereditary hemochromatosis (he-mo-kro-mah-TOE-sis) that poses a risk for accumulating too much iron.
Excessive iron can cause serious damage to organs and lead to liver disease, arthritis, and heart problems. This condition is recessive, meaning that you must inherit a bad gene from each parent to end up with the disorder.
In 1996 scientists <a href="https://www.nature.com/ng/journal/v13/n4/abs/ng0896-399.html">identified the genetic defect</a> underlying most forms of hereditary hemochromatosis – the C282Y mutation in the HFE gene that’s found in one in 10 people with European ancestry. As the years went on additional mutations in the HFE gene were identified including the very common but less severe H63D variant, found in one in five individuals, and the relatively mild S65C, which is carried by about one to two percent of people. These mutations are thought to interrupt the process by which the body regulates iron stores, something that is critical for optimal health.
Although finding the primary cause of &#8220;<a href="../health-2/the-most-common-genetic-disease/">the most common genetic disease</a>&#8221; was a breakthrough, it also laid the groundwork for a new medical mystery: only a small fraction of people with two HFE mutations ever develop serious complications as a result of iron overload.
The advent of genetic testing in the late 1990’s allowed people of a variety of ages – both symptomatic and asymptomatic – to be screened for hereditary hemochromatosis and researchers quickly noted that although having two mutations seemed to elevate iron markers in the blood, most individuals never displayed more serious symptoms like liver disease and arthritis.
It’s not totally clear why some people with a genetic diagnosis of hereditary hemochromatosis go on to develop serious complications while others skate through life without problems, but numerous factors are likely at work. Iron accumulates in the body over time and thus age plays a big role. Sex is important since pre-menopausal women have a natural way of ridding the body of iron through monthly periods. It’s possible, though not yet proven, that additional genetic changes could be playing a role and thus it’s important to consider a person’s family history of the disease.
There’s also evidence that prevention through diet and lifestyle can be important. A withdrawal of iron fortification of flour in Sweden appears to<a href="https://www.ncbi.nlm.nih.gov/pubmed/9368814"> be good news</a> for people with hereditary hemochromatosis, but the question remains whether this benefit outweighs the risk it may pose to those with anemia.
Alcohol is already tied to liver disease and when paired with hemochromatosis it can be even worse – a <a href="https://www.ncbi.nlm.nih.gov/pubmed/11832443">study in Australia</a> showed that people with hemochromatosis who drank more than 60 grams of alcohol per day (about 2 ounces) were roughly nine times more likely to develop cirrhosis of the liver compared to those who drank less.

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