<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.”

23andMe Blog

23andMe Blog Team

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. 
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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>
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View your results for more genetic factors linked to hemochromatosis in your account. 
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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.

The Iron Scale: Factors Tipping Towards Overload

<img loading="lazy" decoding="async" class="alignright wp-image-15" title="logopng" alt="" src="https://blog-api.23andme.com/wp-content/uploads/2008/01/logopng.png" width="126" height="88">
23andMe is passionate about making discoveries that will benefit you.
We give individuals access to their DNA data while in turn translating information they’ve volunteered into meaningful genetic discoveries.
Today we’re announcing the <a href="https://www.23andme.com/about/press/curetogether/" target="_blank" rel="noopener noreferrer">acquisition of CureTogether, Inc. 
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<img loading="lazy" decoding="async" class="alignright size-full wp-image-14282" title="CT-logo" alt="" src="https://blog-api.23andme.com/wp-content/uploads/2012/07/CT-logo-e1341895847805.jpg" width="150" height="37">
a company that we’ve admired for creating communities of people who can share information about their health conditions, support each other and together discover new insights in managing their health.
The acquisition – as well as the addition to our team of its two co-founders, Daniel Reda and Alexandra Carmichael &nbsp;– will improve our own ability to gather data for research and give customers more tools to explore and participate in online communities.
CureTogether’s core mission of enabling people to share their health information as a way to collectively gain new insight into various diseases is aligned with 23andMe’s own crowd-sourced research model. CureTogether, with more than 25,000 members, has gathered nearly four million data points on 576 different medical conditions. Welcoming in those users and the data they’ve contributed to research will improve the important work we are already doing.
At 23andMe, we’ve learned that the quality of our research communities – how engaged and active they are – is vital for quality research. 
Our research model has already made <a href="https://www.23andme.com/about/press/sgk1/">significant breakthroughs</a> in the study of Parkinson’s disease, and we are heartened by the progress we’re making in<a href="https://www.23andme.com/sarcoma/"> Sarcoma</a> and in <a href="https://www.23andme.com/mpn/">Myeloproliferative Neoplasms.</a>
23andMe puts power in the hands of patients to participate in research and accelerate new discoveries. The more people who participate, and the more engaged they are, the more powerful the research.
In this, the CureTogether community is a model for our own 23andMe research community. We’re all trying to find cures. Together, we can make even more of a difference.

CureTogether with 23andMe

<img loading="lazy" decoding="async" class="alignright wp-image-14230 size-medium" title="Rory and Daddy on the beach" src="http://35.88.189.111/wp-content/uploads/2012/07/Rory-and-Daddy-on-the-beach-300x300.jpg" alt="" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/07/Rory-and-Daddy-on-the-beach-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/07/Rory-and-Daddy-on-the-beach-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2012/07/Rory-and-Daddy-on-the-beach-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2012/07/Rory-and-Daddy-on-the-beach-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2012/07/Rory-and-Daddy-on-the-beach-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2012/07/Rory-and-Daddy-on-the-beach.jpg 696w" sizes="auto, (max-width: 300px) 100vw, 300px" />
It’s the most common genetic disorder in the United States, but Milo Sharp had never heard of it before.
The disorder, hemochromatosis, causes iron overload. Undiagnosed it can lead to a build up of iron in the body, particularly in the liver. This, in turn, can lead to serious health problems.
In the United States about 1 of every 300 people has <a href="https://www.23andme.com/topics/health-predispositions/hereditary-hemochromatosis">hereditary hemochromatosis</a>, but people remain largely unaware of the condition, which often has few symptoms and is hard to diagnose.
“Honestly I’d never heard of it which is kind of surprising, (because) my father is a doctor who specializes in blood,” said Milo, a 37 year-old computer programmer in Raleigh North Carolina.
Milo would have remained unaware of the lurking threat but for his wife’s interest in genetics.
“My wife decided to sign up with 23andMe, just to satisfy her curiosity,” he said.
After a little prodding from her, he also got a kit.
“Once we got our data, we found out some interesting details about our ancestry, but I found myself drawn to the health information,” Milo said.
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Read more 23andMe customer stories <a href="https://www.23andme.com/stories/" target="_blank" rel="noopener noreferrer">here</a>.
If you have one of your own that you want to share email stories@23andme.com.
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Still relatively young, Milo was dealing with a few health problems – sleep apnea, type 2 diabetes and high cholesterol – that taken together concerned him. Already a father of three boys, Milo’s wife was pregnant with a boy. Suddenly Milo’s long-term health became that much more important.
“I wanted to be there for my sons,” he said.
Milo saw that he was at increased risk for diabetes, which is something he already knew he had, but it was when he looked at his carrier status report that he learned something new.
“When I drilled down it was kind of surprising – I found not just one (variant) but two that put me at higher risk for hemochromatosis,” Milo said.
As he read more about the disease and how it can impact the body if untreated, Milo became concerned.
“I was worried that if I had it, it could exacerbate some of the other conditions I already had,” he said.
So he printed out a copy of his 23andMe results and took them with him the next time he saw his doctor.
“None of the doctors had ever heard of (23andMe) so not surprisingly they were pretty skeptical,” Milo said.
Hemochromatosis is typically hard to diagnose until it gets to more acute stages. But Milo explained that he carried two genetic variants that put him at a higher risk for the disease. Because of his existing conditions, Milo said he didn’t want to wait for symptoms to appear. He had additional blood tests done and one showed significantly elevated serum ferritin levels, essentially an indication of how much iron is stored in his organs.
“My (doctor) said, ‘this is something we’re going to want to look at,’” Milo said.
After working with other doctors and having a liver biopsy, Milo learned that he indeed had hemochromatosis.
“I had significant iron overload in my liver,” he said.
His liver was under stress and had internal scarring, but the condition was found early enough that there were specific treatments he could undergo to manage it.
“I can do other things like change my diet and lifestyle to improve my health and I’m working on that,” he said. “I think 23andMe may have saved my life or at least prolonged it and I want to let others know that.”
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View your results for genetic factors linked to Hereditary Hemochromatosis in your account. 
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Battling Against A Common Genetic Disease

<img loading="lazy" decoding="async" class="aligncenter wp-image-14184 size-full" title="three-bras" src="http://35.88.189.111/wp-content/uploads/2012/07/three-bras.jpg" alt="" width="416" height="288" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/07/three-bras.jpg 416w, https://blogcms.23andme.com/wp-content/uploads/2012/07/three-bras-300x208.jpg 300w" sizes="auto, (max-width: 416px) 100vw, 416px" />
Social norms and preferences aside, it turns out that breast size matters &#8212; but not quite in the way you think.
<a href="http://www.biomedcentral.com/1471-2350/13/53/abstract">23andMe’s latest research paper</a>, published in the journal BMC Medical Genetics, shows that genetic factors influence whether women have double As or double Ds. This might sound a bit frivolous at first but our research uncovered surprising connections between the genetics of breast size and the genetics of breast cancer. 

Analyzing data from more than 16,000 women of European ancestry, we compared their answers to survey questions with their genetic data at millions of SNPs. We found a total of seven genetic factors significantly associated with breast size, three of which are strongly correlated with SNPs already linked to breast cancer.
How do you study breast size anyway? 
In our case, no one’s personal space was violated &#8212; all of our data was self-reported by female 23andMe customers of European descent who have opted into research and filled out an online survey. We specifically asked about bra cup size as an approximation for breast size using a 10-point scale ranging from “Smaller than AAA” to “Larger than DDD”. We also took into account age, breast-related surgeries (augmentation, reduction, or mastectomy), pregnancy and breastfeeding status, and bra band size (which is correlated with body mass index (BMI)).
Most of the genetic factors we identified for breast size lie in regions of great importance for breast cancer. One of the SNPs, rs12173570, is known to regulate the expression of the estrogen receptor gene, which plays a vital role in breast growth and in the majority of breast cancer cases (known as “ER+” or “hormone positive” types).
Another one of these SNPs, rs7816345, is located in a region of the genome (8p21) that often shows abnormalities in people with a certain subtype of breast cancer. Scientists also recently reported <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3076615/">genetic factors influencing breast density</a> &#8212; a <a href="http://www.nejm.org/doi/full/10.1056/NEJMoa062790">risk factor</a> for breast cancer &#8212; and our research suggests that one of those factors may also be associated with breast size.
These findings show that some of the same biological pathways underlie both normal breast growth and breast cancer. This isn’t a huge surprise if you think of cancer as unrestrained growth. But the relationship between breast size and breast cancer is complicated. <a href="https://www.ncbi.nlm.nih.gov/pubmed/10231159">Some</a> <a href="https://www.ncbi.nlm.nih.gov/pubmed/16284954">studies</a> have found that larger breast size as a young woman is associated with a slight increase in breast cancer risk, but only in women who were lean at a young age. The genetic factors we found aren’t enough to explain this association, but support the idea that breast size and breast cancer are related.
While the topic of breast size raised a few eyebrows when we first put out the survey (some thought it was too personal, or couldn’t be serious science), this paper demonstrates that important scientific insights can come from the most unlikely of places. Although the connections between these genetic factors, breast size, and breast cancer aren’t fully understood, our findings give clues to the function of some of these genes and regions that might be useful in combating breast cancer.

Genetics linked to breast size and breast cancer risk

<img loading="lazy" decoding="async" class="aligncenter wp-image-4273 size-full" title="blooddonation" src="http://35.88.189.111/wp-content/uploads/2009/08/blooddonation.jpg" alt="A photo of a woman giving blood." width="350" height="232" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/08/blooddonation.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2009/08/blooddonation-300x199.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />Simply giving blood is one of the best ways to treat iron overload.
It’s the most common genetic disease you never heard of.  <a href="https://www.23andme.com/topics/health-predispositions/hereditary-hemochromatosis/">Hemochromatosis</a>, sometimes called the “Celtic Curse,” affects an estimated one in every 300 Americans, but many who have it have no idea they do.
<h2>Serious Medical Condition</h2>
July is National Hemochromatosis Month, and 23andMe will highlight stories and research related to this genetic disease, which can quietly lead to iron overload – a serious medical condition – over time. Some people may never know they have the problem because the symptoms often appear later in life – between the ages of 40 and 60 in men and after menopause in women.
However, iron overload can cause severe damage to the liver, kidney, heart, and other organs. When iron levels in the body become dangerous, lowering those levels can be done relatively simply by having blood drawn regularly. Changes in diet can also help maintain safe levels and avoid the problems caused by chronic high levels of iron.
<h2>Hereditary Hemochromatosis</h2>
There are several forms of hereditary hemochromatosis. 23andMe currently reports on two of the most common genetic variants in the HFE gene that can lead to the condition – C282Y and H63D. Mutations in other genes can cause other kinds of hereditary hemochromatosis.
Up to 90 percent of those with hereditary hemochromatosis have two copies of the most severe variant in the HFE gene – C282Y – and they are at the highest risk of developing iron overload. Not everyone develops symptoms, and environmental factors also affect iron levels. Individuals with one copy of the C282Y variant and a second milder variant in the HFE gene are also at some risk for iron overload, though they are less likely to end up with organ damage.
The Centers for Disease Control notes that early disease detection is important, but diagnosing it can sometimes be challenging. Knowing your family history and whether you have a genetic risk for the disease can help you and your doctor decide whether you should be more proactive in screening for the condition, which can be easily managed.

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