<img loading="lazy" decoding="async" class="wp-image-11716 size-full alignright" src="http://35.88.189.111/wp-content/uploads/2012/01/Q1-2012-Health-Watch-Word-Cloud.png" alt="" width="1496" height="692" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/01/Q1-2012-Health-Watch-Word-Cloud.png 1496w, https://blogcms.23andme.com/wp-content/uploads/2012/01/Q1-2012-Health-Watch-Word-Cloud-300x139.png 300w, https://blogcms.23andme.com/wp-content/uploads/2012/01/Q1-2012-Health-Watch-Word-Cloud-768x355.png 768w, https://blogcms.23andme.com/wp-content/uploads/2012/01/Q1-2012-Health-Watch-Word-Cloud-1024x474.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/01/Q1-2012-Health-Watch-Word-Cloud-880x407.png 880w, https://blogcms.23andme.com/wp-content/uploads/2012/01/Q1-2012-Health-Watch-Word-Cloud-1180x546.png 1180w" sizes="auto, (max-width: 1496px) 100vw, 1496px" />
Like many people around the world, the health content team at 23andMe rang in 2012 with resolutions of staying healthy and it seemed fitting to delve into the genetics underlying response to diet and exercise, eating behavior and cholesterol levels. As we eased in to the new year, we segued into reproduction, updating our existing reports on male infertility and gestational diabetes, and we also recently added new genetic associations for tuberculosis susceptibility, Hodgkin lymphoma, and atopic dermatitis.
In the end of February we paid tribute to rare diseases by celebrating <a href="../2012/02/29/did-you-know-its-not-so-rare-to-have-a-rare-disease/" target="_blank" rel="noopener">Rare Disease Day</a> and putting out new reports for <a href="https://www.23andme.com/sarcoma/" target="_blank" rel="noopener">sarcoma</a> and <a href="https://www.23andme.com/mpn/" target="_blank" rel="noopener">myeloproliferative neoplasms (MPN)</a> –  rare cancers that we are particularly passionate about as evidenced by our <a href="../2012/02/27/weve-come-a-long-long-way-together-but-were-not-there-yet/" target="_blank" rel="noopener">innovative research efforts</a> for these conditions.
Read more about some of our new and updated reports…
<h6>Tying genetics to diet and exercise</h6>
Does exercise help you lose weight or does it barely seem to make a difference? Have you ever wondered why some people who eat a lot of fatty foods don’t gain weight while others seem to pack on the pounds? Our Response to Exercise and Response to Diet reports may provide insight into the genetics underlying these complex topics that are already known to be strongly influenced by behavior and environment. Similarly, if you tend to reach for second helpings, our report on eating behavior may also shed some light!
<h6>Insight into your cholesterol</h6>
Have you ever wondered why your LDL cholesterol level is naturally low or why it seems to stay high despite your best efforts to lower it? Towards the end of January we added a new report for LDL cholesterol – the “bad” cholesterol that is associated with heart disease – and updated our report on HDL cholesterol, which is the “good” cholesterol that is considered protective against heart disease. These reports may offer some clues for you,  but it’s important to keep in mind that the genetic landscape of cholesterol levels is highly complex and that lifestyle also plays a big role.
<h6>Genetic findings on reproductive health in Asians!</h6>
Sexual reproduction is what keeps the human species going, but from getting pregnant to having a healthy child, it doesn’t always work like a well-oiled machine. Approximately 15% of couples experience difficulties getting pregnant and <a href="../2012/02/06/snpwatch-genetic-variants-linked-to-male-infertility-in-asians/" target="_blank" rel="noopener">about half of these cases</a> are due to male infertility. We’ve updated our Male Infertility report to include genetic variants that influence sperm count in Asian men. In February we also added new findings for Asian women to our report on gestational diabetes, a pregnancy complication with symptoms similar to type 2 diabetes that affects about 3-5% of pregnant women.
<h6>Revving up reports for rare diseases</h6>
In the United States, a disease is defined as “rare” if it affects<a href="http://rarediseaseday.us/about/" target="_blank" rel="noopener"> fewer than 200,000 individuals</a>, or roughly one in 1500. Sarcoma and myeloproliferative neoplasms (MPN) fall into this category and in early March we added new reports for both of these rare cancers. Although these reports are considered “preliminary research” findings, mainly because they were generated with relatively small study groups, they are still exciting progress in research on these rare disorders.
23andMe customers can find more details on these and other conditions in their accounts. Not a member? <a href="https://www.23andme.com/store" target="_blank" rel="noopener">Visit our store</a>, or set up a<a href="https://www.23andme.com/user/signup/" target="_blank" rel="noopener"> free trial account</a> to browse these and other reports.

23andMe Blog

23andMe Blog Team

Health Watch: New Year’s Resolutions, Reproduction and Rare Diseases

<img loading="lazy" decoding="async" class="aligncenter wp-image-9055 size-full" src="http://35.88.189.111/wp-content/uploads/2011/05/sarcoma-image1.jpg" alt="" width="315" height="257" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/05/sarcoma-image1.jpg 315w, https://blogcms.23andme.com/wp-content/uploads/2011/05/sarcoma-image1-300x245.jpg 300w" sizes="auto, (max-width: 315px) 100vw, 315px" />
Ewing sarcoma, a rare type of bone cancer, is diagnosed in only about 250 children and teenagers in the United States each year.
<h6>Cell Function</h6>
The vast majority of Ewing sarcomas are caused by a specific rearrangement of the DNA within bone cells. The EWSR1 gene on chromosome 22 becomes fused to the FLI1 gene on chromosome 11. This EWSR1-FLI1 fused gene produces a dysfunctional protein that fails to correctly regulate important cell functions. This leads to extremely aggressive tumors.
Not much is known about the genetics of Ewing sarcoma but researchers have long suspected a genetic component. Children of European ancestry are affected much more frequently than children of Asian or African ancestry. Having a sibling or a cousin with Ewing sarcoma also increases a child’s risk for the condition. The rarity of the disease, however, has made genetic studies very difficult.
<h6>New Findings</h6>
Last month, scientists from the Cancer Research Center of Lyon and the Institute Curie in Paris <a href="https://www.ncbi.nlm.nih.gov/pubmed/22327514" target="_blank" rel="noopener noreferrer">published</a> the first genome-wide association study reporting possible genetic susceptibility factors for Ewing sarcoma. The research team, led by David Cox and Oliver Delattre, compared over 1,000 patients with Ewing sarcoma to approximately 2,000 healthy individuals and discovered several SNPs associated with the condition.
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">If you haven’t heard of sarcomas, it’s not really surprising — these rare cancers make up less than 1% of cancer diagnoses. The word “sarcoma” comes from the Greek word for “flesh,” and many sarcomas do affect the soft, fleshy tissues, such as fat or muscle. Some sarcomas, however, affect the bone, such as Ewing sarcoma.</div>
<h6>Associated odds</h6>
One of these SNPs,  is located near the TARDBP gene. The researchers found that each copy of a T at was associated with about 2.2 times lower odds of Ewing sarcoma. For another SNP was associated with 1.66 times higher odds of Ewing sarcoma.
Both of these SNPs have some biological connection to the disease. The TARDBP gene turns out to be structurally similar to EWSR1 and FLI1. These are the two genes that are fused together in most Ewing sarcoma cells. The researchers in this study also noted that individuals with genotypes associated with higher Ewing sarcoma risk produced more TARDBP protein than individuals with the lower-risk genotypes, though how exactly this relates to the development of Ewing sarcoma is still to be determined.
Cox and his team found that individuals with Ewing sarcoma have higher EGR2 protein production than individuals with other types of sarcoma. They also show that the protein encoded by the EWSR1-FLI1 fused gene that is seen in so many Ewing sarcoma cells regulates the production of EGR2 protein.
This study represents the first genome-wide association study in this rare condition, but it is only a first step. More research in large groups of sarcoma patients to investigate these associations and determine whether they affect Ewing sarcoma risk in other populations.

A First For Ewing Sarcoma

On a recent visit to 23andMe George Demetri –a physician and scientist who is an unpaid advisor to our<a href="https://www.23andme.com/sarcoma/"> Sarcoma research initiative</a> – sat down for a short interview after talking to our team. 
Demetri, who is also the director of the Dana-Farber Center for Sarcoma and Bone Oncology, said he has a lot to be optimistic about in the study of sarcoma. Individually, these are rare kinds of cancers that affect bone, cartilage, muscle, and other soft connective tissue in the body.
<img loading="lazy" decoding="async" class="alignright wp-image-11542 size-medium" title="george&amp;Anne" src="http://35.88.189.111/wp-content/uploads/2012/03/georgeAnne-300x194.jpg" alt="" width="300" height="194" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/georgeAnne-300x194.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/03/georgeAnne-768x496.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/03/georgeAnne-1024x661.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/03/georgeAnne-880x568.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/03/georgeAnne-1180x762.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />Dr. George Demetri and 23andMe&#8217;s CEO Anne Wojcicki
Genetics often triggers different sarcomas, but, as with most cancers, there seldom is a single cause. This makes treating sarcoma that much more difficult. Research into sarcoma, like other rare diseases, is stymied by how rare these cancers are, but Demetri’s work at the Dana-Farber Center offers much to be hopeful about. 
Demetri, who has had his share of practice-changing clinical breakthroughs, mostly notably with treating<a href="http://www.gistsupport.org/"> gastrointestinal stromal tumors</a>, is excited by some of the preliminary research 23andMe is already compiling around our Sarcoma research community. He said the model for our research platform – crowd-sourced, Internet-based, and web-driven genetic studies – is something he has long envisioned as a way to improve medical research and treatment.
23andMe: You anticipated using the Internet to connect patients to doctors and researchers long before 23andMe created its Sarcoma Community. Where did that idea come from, and how does 23andMe’s work mesh with what you’d hope to see?
Demetri: For me, the idea of using the Internet was about finding the right patients with the disease under interest because it was very clear that the tools we use to diagnose a disease are not sufficiently powerful &#8230; cancer, it’s not one disease. Sarcomas under the microscope look very different. When we started diving into the chromosomes, they were completely different. And when we started diving into the genetics, they couldn’t be more different … When you peer into that looking glass, you see a thousand different kinds of sarcomas. You run into a problem if they are only one percent of all cancers and you have 1,000 different diseases; there are not a lot of people with any one kind of those cancers … You have to do the E-Harmony trick. You have to match the right patients to the right drugs. 23andMe is the perfect tool for that. 
Nine out of ten cancer drugs we have today fail in clinical trails and that’s because nobody’s paying attention to this important matching of what’s driving the patient with the cancer to the drug that works for that cancer. To do that you need to put another filter on the traditional clinical trials methodology where you don’t just take everybody who walks in the door with a given type of cancer. Instead, you take the patients with the right kind of genetics, and you actually select for them.It’s the same kind of issue that patients have. They want their medicine personalized. And you know, we hear a lot of backlash about this in the medical community where they are saying: 
“You guys in academia talk a lot about personalized medicine. Well, I’m very personalized. I treat my patients as individuals.” 
And you know they do. They do the best they can with old technology and old diagnostics, but the truth is our technology has moved beyond that, and patients want access to it.
23andMe: What might the work on Sarcomas mean for other kinds of research?
Demetri: Sarcomas tend to be driven by one dominant pathway, where if you shut it off, the cancer gets better. GIST (gastrointestinal stromal tumors) is a great example of that. But more common cancers are probably driven by two, or maybe three, mutated pathways or different dysregulated pathways – kind of like HIV. We didn’t see people living with HIV for years, and, years, and years until we got to triple therapy. So the challenge for us now in cancer is how to identify the right molecular pathways, do the clinical trials, and, as quickly as possible, move from using a single targeted drugs to giving triple therapies.
23andMe: More than 800 people are enrolled in our Sarcoma Community and are heading to 1,000. What is the significance of having that many people with Sarcoma in a research cohort?
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-11554" title="George&amp;graph" src="https://blog-api.23andme.com/wp-content/uploads/2012/03/Georgegraph-300x200.jpg" alt="" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/Georgegraph-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Georgegraph-768x512.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Georgegraph-1024x683.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Georgegraph-880x587.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Georgegraph-1180x787.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Demetri: In research, in general, the quality of the community and its engagement are important. It’s not just the number. But it is incredibly helpful to be able to dialogue back and forth between patients, doctors, and researchers. Patients also want to be able to reach out to other patients. What I see in this tool is that possibility. 
Having patients participate as part of the research will teach us a lot. It’s to the patient&#8217;s advantage to help us hone the data we’re collecting and to have their voices heard. Simply knowing things like, ‘How did you feel taking this drug?’ That’s important. I think patients are frustrated that the health care system doesn’t already use that kind of data, their data, in an aggregated way.
23andMe: You are an excellent combination of someone who is both very realistic and optimistic. What would you tell someone today who was just diagnosed with Sarcoma?
Demetri: Sarcoma is a scary diagnosis, but some may proceed with a nihilism that’s unwarranted. That nihilism is the first thing we’ve tried to counteract in the last decade. I think the important thing with this is today, half of all patients will be cured with conventional modalities. That’s terrific. That’s number one, and even when we have somebody who doesn’t currently have the potential of being cured, I’ve been lucky enough to be part of developing drugs that made people who thought that they maybe had only had six weeks to live to still be alive 11 years later now. That is life-changing. That is a transformational kind of research. And I’ve seen the power of that kind of research. I tell my patients I’m going to help them make decisions so that they buy as much time as possible because we never know in research when we’re going to make the next major breakthrough that will make an incurable disease curable or a fatal one into one that will be manageable.

Talking about Sarcoma with George Demetri

<div style="padding: 10px; border: 1px solid #ccc; background-color: #ffc; margin-bottom: 10px;">February 29th is Rare Disease Day! Fight rare disease by helping us reach 800 participants in our <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener">Sarcoma Community</a> and 500 participants in our <a href="https://www.23andme.com/mpn" target="_blank" rel="noopener">Myeloproliferative Neoplasms Research Initiative</a> this week. Learn more below.</div>
<img decoding="async" class="alignright size-medium wp-image-4013" title="geneticresearch7" src="https://blog-api.23andme.com/wp-content/uploads/2009/07/geneticresearch7-300x229.jpg" alt="" width="250" />
At 23andMe, we believe in fostering individual empowerment and increasing access to genetic information with the goal of making a difference in people’s lives. Nowhere is this more apparent than in our disease research communities, especially those for rare diseases like <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener">sarcoma</a> and <a href="https://www.23andme.com/mpn" target="_blank" rel="noopener">myeloproliferative neoplasms</a> (MPNs). Patients from all over the world can contribute directly to research and connect with others who have their disease, all while learning more about themselves and their genetics. We’re amazed at the progress these initiatives have made, but there’s still a long way to go. With <a href="http://www.rarediseaseday.org" target="_blank" rel="noopener">Rare Disease Day</a> this week, we hope you’ll help us spread the word to encourage participation in our innovative research efforts for rare disease.
<img loading="lazy" decoding="async" class="alignright wp-image-9055 size-full" style="margin-bottom: 15px;" title="sarcoma image" src="http://35.88.189.111/wp-content/uploads/2011/05/sarcoma-image1.jpg" alt="A logo for 23andMe's Sarcoma research community" width="315" height="257" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/05/sarcoma-image1.jpg 315w, https://blogcms.23andme.com/wp-content/uploads/2011/05/sarcoma-image1-300x245.jpg 300w" sizes="auto, (max-width: 315px) 100vw, 315px" /> 
Our Partners in Sarcoma 
Our patient advocacy partners include <a href="http://www.sarcomaalliance.org" target="_blank" rel="noopener">Sarcoma Alliance</a>, <a href="http://beatsarcoma.org/" target="_blank" rel="noopener">Beat Sarcoma</a>, <a href="http://www.curesarcoma.org/" target="_blank" rel="noopener">Sarcoma Foundation of America</a>, <a href="http://www.sarcoma.org.uk/" target="_blank" rel="noopener">Sarcoma UK</a>, and ACOR. Many experts in sarcoma have also joined our cause to serve in an unpaid advisory role, including <a href="http://doctors.dana-farber.org/directory/profile.asp?dbase=main&amp;setsize=16&amp;pgt=George+D%2E+Demetri%2C+MD&amp;picture_id=0000273&amp;grouptype_typeid_data=1&amp;gs=c&amp;nxtfmt=r&amp;display=Y&amp;lookup=Y&amp;oldurl=Y&amp;pict_id=0000273" target="_blank" rel="noopener">George Demetri</a>, Bob Maki, Judy Garber, and <a href="http://www.mskcc.org/cancer-care/doctor/mark-robson" target="_blank" rel="noopener">Mark Robson</a>.
<h6>23andMe’s Sarcoma Community: A Patient-Driven Revolution in Sarcoma Research</h6>
In April of 2010, 23andMe launched a disease research initiative focused on sarcomas, a group of rare cancers that affect the bone and connective tissues. With the help of numerous advocacy groups, scientific advisors, and patients themselves, we now have the largest genotyped sarcoma cohort in the world. The majority of our patients have a soft tissue sarcoma, and leiomyosarcoma and liposarcomas are the most common subtypes reported by our participants.
We’re nearly at our goal of 1,000 participants in our Sarcoma Community &#8212; more than 700 people who have had sarcoma have joined our growing community. 
Help us reach 800 participants this week! If you’ve been diagnosed with sarcoma, we encourage you to <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener">enroll</a>. If you know someone who has or had sarcoma, let them know about this unique opportunity. And simply spread the word &#8212; every little bit helps! Visit <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener">https://www.23andme.com/sarcoma</a> to participate or learn more. 
 
(Already enrolled? Do your part by making sure you’ve sent back your DNA collection kit and by filling out the “Sarcoma Background Survey”! Log in to your account <a href="https://www.23andme.com/you" target="_blank" rel="noopener">here</a>.)
<img loading="lazy" decoding="async" class="alignright wp-image-11373 size-full" style="margin-bottom: 15px;" title="researchrevolution-fist" src="https://blog-api.23andme.com/wp-content/uploads/2012/02/researchrevolution-fist.jpg" alt="A raised fish with the message 'your dna can lead us to a cure, join the research revolution.'" width="180" height="311" /> 
Our MPN Advisors 
We are honored to have MPN experts <a href="http://hematology.stanford.edu/research/gotlib_resume.html" target="_blank" rel="noopener">Jason Gotlib</a>, James Zehnder, and Ruben Mesa serving as unpaid scientific advisors in our research efforts.
<h6>23andMe’s Myeloproliferative Neoplasms Research Initiative</h6>
Last summer we launched an initiative to study myeloproliferative neoplasms (MPNs), a group of very rare blood cancers. Our MPN cohort is an amazing example of the power of social media. In only six months we’ve enrolled more than 400 participants, mostly through individuals posting on Facebook and online forums. MPN patients are motivated, driven, and engaged in research, and we are humbled to work with them to make scientific discoveries. Already our participants have contributed data that supports possible connections between specific genetic mutations and MPN subtypes (check back soon for more on this topic!).
As with other rare diseases, numbers are important. The more participants we have, the more likely we’ll be to make breakthroughs. Help us reach 500 participants this week &#8212; if you have a myeloproliferative disorder (including myelofibrosis, essential thrombocythemia, polycythemia vera, chronic myelogenous leukemia, mastocytosis, or hypereosinophilic syndrome (HES) and related eosinophil disorders), join our cause. If you know someone with one of these disorders, encourage them to <a href="https://www.23andme.com/mpn" target="_blank" rel="noopener">enroll</a>! And simply spread the word, because every little bit helps. Visit <a href="https://www.23andme.com/mpn" target="_blank" rel="noopener">https://www.23andme.com/mpn</a> to participate or learn more.
(Already enrolled? Do your part by making sure you’ve sent back your DNA collection kit and by filling out the two MPN research surveys: “Background” and “Symptoms Assessment”! Log in to your account <a href="https://www.23andme.com/you" target="_blank" rel="noopener">here</a>.)
Feb 29th is <a href="http://www.rarediseaseday.org" target="_blank" rel="noopener">Rare Disease Day</a>! Check back for more information about rare disease and how you can help.

We’ve Come A Way But We’re Not There Yet

<img decoding="async" class="alignright size-medium wp-image-10750" title="top10ten" src="https://blog-api.23andme.com/wp-content/uploads/2011/12/top10ten-266x300.jpg" alt="" width="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/12/top10ten-266x300.jpg 266w, https://blogcms.23andme.com/wp-content/uploads/2011/12/top10ten.jpg 306w" sizes="(max-width: 266px) 100vw, 266px" />
We thought 2010 would be hard to top but we’re happy to say that 2011 has been even better. Scientists uncovered new insights into serious conditions like type 2 diabetes and autoimmune disorders as well as traits like iris patterns. New research has also improved our understanding of the genetics of obesity, a condition that affects nearly two-thirds of Americans. And we ourselves contributed even more to the understanding of Parkinson’s disease while delving into areas that researchers traditionally neglect.
All this and much more happened in 2011 and so this list represents just a snapshot of some of the most intriguing developments.
1. The genetics of Parkinson’s disease gets a little clearer and novel breakthroughs may contribute to potential new treatments.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-8774" title="cell-culture_petri-dish" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/cell-culture_petri-dish-150x150.jpg" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/03/cell-culture_petri-dish-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2011/03/cell-culture_petri-dish-271x271.jpg 271w" sizes="auto, (max-width: 150px) 100vw, 150px" />
In June, 23andMe reported discovering novel genetic variants associated with Parkinson’s disease and in the process also replicated nearly two dozen previously reported associations. Later in the year, we also announced the discovery of <a href="https://blog.23andme.com/articles/parkinsons-discoveries" target="_blank" rel="noopener">a potential protective genetic factor</a> against Parkinson’s disease in the SGK1 gene. We’re not the only ones making progress &#8212; in March, scientists at Stanford announced that they’d successfully created <a href="https://blog.23andme.com/articles/milestones-in-the-fight-against-parkinsons-disease" target="_blank" rel="noopener">a line of cells</a> that exhibits biochemical properties of the disease in the petri dish. Together, these discoveries offer hope in the quest for determining causes and developing possible cures.
2. Genetic factors for type 2 diabetes are shared between populations of South Asian and European descent &#8212; but perhaps not equally.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-10069" title="IndianWoman(iStockblog) copy" src="https://blog-api.23andme.com/wp-content/uploads/2011/10/IndianWomaniStockblog-copy-150x150.jpg" alt="" width="150" height="150">
People with South Asian ancestry develop type 2 diabetes at much higher rates than people with European ancestry, but relatively little is known about the genetic factors influencing this increased risk in South Asians. A recent study of nearly 60,000 people of South Asian descent <a href="https://blog.23andme.com/articles/snpwatch-genetic-variants-associated-with-type-2-diabetes-in-south-asians-and-europeans" target="_blank" rel="noopener">identified several genetic variants linked to type 2 diabetes</a>. These variants also seem to be associated with the disease in Europeans, and similarly, genetic factors previously identified in Europeans appeared to be linked to the disease in South Asians. Most of these genetic variants, however, showed stronger effects in one population than the other.
3. Genetic associations with obesity differ depending on age.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-1483" title="medicalscale" src="https://blog-api.23andme.com/wp-content/uploads/2008/09/medicalscale-150x150.jpg" alt="" width="150" height="150">
Genetic variants in the FTO gene have been linked repeatedly to risk for obesity, but new research is also revealing the complex interplay between these variants and non-genetic factors. In a <a href="https://blog.23andme.com/articles/snpwatch-association-between-fto-variant-and-obesity-depends-on-age-and-impacts-development" target="_blank" rel="noopener">study published last February</a>, researchers found that the same version of an obesity-linked SNP had the opposite association with BMI in very young children than it did in older children. The association corresponds with a difference in a developmental marker known as “adiposity rebound”. The timing of adiposity rebound has been linked to obesity and related diseases later in life.
4. Genetic variation is in the eye &#8212; or iris patterns &#8212; of the beholder.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-1553" title="browneyes" src="https://blog-api.23andme.com/wp-content/uploads/2008/10/browneyes-150x150.jpg" alt="" width="150" height="150">
Rings, spots and flecks of color, lines and shapes and furrows – although no two irises are the same, what causes these differences? Thanks to an Australian study of nearly 3,000 individuals, we now know that at least <a href="https://blog.23andme.com/articles/snpwatch-genetic-variation-is-in-the-eye-of-the-beholder" target="_blank" rel="noopener">a few specific genetic variants contribute to the appearance of certain iris patterns</a> such as “crypts”, “furrow contractions”, and pigmented rings. So go on, take a look in the mirror and see what kind of patterns you have in your iris and your genetics!
5. Sex matters in genetic association studies.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-9756" title="diversity(iStockBlog)" src="https://blog-api.23andme.com/wp-content/uploads/2011/09/diversityiStockBlog-150x150.jpg" alt="" width="150" height="150">
Many diseases occur more frequently in one sex than the other but most genetic research doesn’t look at these differences, potentially missing genetic factors that have opposite effects in men and women or ones that only have an effect in one sex or the other. A Stanford research group analyzed data from one of the largest and first genome-wide association studies and found several genetic variants associated with Crohn’s disease and coronary heart disease in a sex-specific manner. They suggest that many more sex-specific factors are waiting to be identified.
6. His and Hers: Genetic factors underlying prostate cancer differ in different ethnicities and genetic factors influence breast density in women.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-4873" title="prostatemen" src="https://blog-api.23andme.com/wp-content/uploads/2009/09/prostatemen-150x150.jpg" alt="" width="150" height="150">
New studies continue to increase our understanding of prostate cancer and breast cancer, two of the most common cancers in men and women, respectively. Women with high mammographic density have four to five times higher risk for breast cancer and in January, researchers reported a <a href="https://blog.23andme.com/articles/snpwatch-researchers-identify-variant-associated-with-breast-density" target="_blank" rel="noopener">genetic variant linked to both mammographic breast density and breast cancer risk in women</a>. For prostate cancer, we know quite a bit about genetic factors in Europeans but far less about those relevant for African Americans. In May, one of the largest studies of prostate cancer in African Americans found that <a href="https://blog.23andme.com/articles/ethnicity-matters-in-research-a-case-study-in-prostate-cancer" target="_blank" rel="noopener">only half of the genetic factors</a> linked to prostate cancer in people of European descent are linked to the cancer in African Americans.
7. 23andMe initiatives old and new prove the power of participant-driven research.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-9055" title="sarcoma image" src="https://blog-api.23andme.com/wp-content/uploads/2011/05/sarcoma-image1-150x150.jpg" alt="" width="150" height="150">
In 2011, we launched two new research initiatives. The first, focused on myeloproliferative neoplasms, continues our commitment to advancing knowledge of rare diseases using our unique research platform. The second initiative, Roots into the Future, aims to improve our understanding of the connection between DNA and disease in African Americans, a population that is significantly understudied. We’ve been enrolling participants into both of these initiatives at an incredible pace and are extremely excited to begin making important discoveries with their help. And as our Sarcoma Community Night showed us, our research participants are among the most passionate and inspiring people in the world.
8. Scientists discover new genetic factors for migraine susceptibility and 23andMe replicates the findings in days.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-5157" title="migraine" src="https://blog-api.23andme.com/wp-content/uploads/2009/10/migraine-150x150.jpg" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/10/migraine-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2009/10/migraine-271x271.jpg 271w" sizes="auto, (max-width: 150px) 100vw, 150px" />
In June, the largest migraine study to date reported three genetic variants associated with risk for this debilitating disorder. It turns out that 23andMe’s database contains thousands of people who suffer from migraines and we were able to replicate the new study’s findings in a matter of days. This is just a small example of the power and speed of our research platform as shown by a paper we published in August replicating more than 180 genetic associations for three dozen different medical conditions in a fraction of the time it would take using the traditional research model.
9. Many genetic factors are shared across multiple autoimmune disorders.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-5013" title="dnaoragami" src="https://blog-api.23andme.com/wp-content/uploads/2009/10/dnaoragami-150x150.jpg" alt="" width="150" height="150">
Numerous studies have pinpointed genetic factors associated with autoimmune disorders such as rheumatoid arthritis, multiple sclerosis, lupus, and psoriasis to name a few. Some of these genetic factors pop up over and over again, raising the question of whether these disorders are genetically interconnected. A study published in August took a closer look at this question by examining more than 100 genetic variants previously linked to autoimmune disorders. The result: nearly half of these variants are associated with at least two different conditions.
10. New insights into our shared African ancestry, both ancient and recent.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-8628" title="Hadza-hunter" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/Hadza-hunter-150x150.jpg" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/03/Hadza-hunter-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2011/03/Hadza-hunter-271x271.jpg 271w" sizes="auto, (max-width: 150px) 100vw, 150px" />
Prevailing scientific thought pins the origins of the human species in eastern Africa, but new research published this past March suggests a different story. By measuring genetic variation from different populations around Africa, researchers at Stanford, UCSF and 23andMe found evidence that our ancestral origins may actually lie in southern Africa. And for many people of European descent, their African ancestral origins may be much closer than that. Scientists at 23andMe examined the genetic ancestry of nearly 80,000 individuals who are likely to identify as entirely of European ancestry and discovered that between three and four percent have some amount of “<a href="https://blog.23andme.com/articles/hidden-african-ancestry" target="_blank" rel="noopener">hidden African ancestry</a>”.

Our Top 10 for 2011

<div>With Kim Barnholt</div>
<img loading="lazy" decoding="async" class="alignright wp-image-10030 size-medium" title="50-50-poster" src="http://35.88.189.111/wp-content/uploads/2011/10/50-50-poster-203x300.jpg" alt="" width="203" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/10/50-50-poster-203x300.jpg 203w, https://blogcms.23andme.com/wp-content/uploads/2011/10/50-50-poster.jpg 214w" sizes="auto, (max-width: 203px) 100vw, 203px" />
From the minute it became clear that Adam had cancer, he became a statistic, a diagnosis, a “case study”. One of the statistics he made sure to read up on were his chances of surviving. The odds &#8212; 50/50 &#8212; didn’t seem fair in the context of his life, but his friend Kyle put it into a different perspective: “Dude, if you were a casino game, you’d have the best odds!”
Thus begins Adam’s journey with neurofibrosarcoma, a rare form of spinal cancer. His friends, his family, his girlfriend &#8212; even his therapist &#8212; try to comfort him with cliches, touting the healing properties of pets, green tea, and physical touching, the latter which feels to Adam like “getting slapped by a sea otter.”
Adam also experiences a side of having cancer that can’t be found in any textbook. His chemo buddies joke that the diagnoses with the most syllables have the worst outcomes. Kyle tries to get him to use his illness to score girls, saying “it makes you different.” And, as everyone keeps telling him “you’re going to be okay,” Adam slowly, helplessly realizes that it’s a distinct possibility that he won’t be.
Through Adam’s struggles, and the struggles of those around him, we learn that cancer is anything but straightforward. It is messy and unpredictable, often ironic, turning life at once surreal and the most real that it &#8212; and its alternative &#8212; can be. And yes, it is awkward, and it can even be funny. Lost in all the numbers and textbooks and fundraising campaigns is the fact that cancer is a uniquely human experience, different for everyone, and completely incomprehensible until you come face to face with it in yourself or a loved one.
By putting a human face on cancer, “<a href="http://www.50-50themovie.com/">50/50</a>”, a new film starring Joseph Gordon-Levitt as Adam and Seth Rogen as Kyle, refuses to let it be stereotyped. There is no sugar-coating and no pretensions. The film is simply life at its most fragile and frustrating, alternately hilarious, maddening, heartbreaking, and uplifting.
At 23andMe, we think about cancer a lot. In fact, we’ve dedicated two of our first<a href="https://www.23andme.com/research" target="_blank" rel="noopener"> research initiatives</a> to<a href="https://www.23andme.com/sarcoma"> sarcoma</a> and<a href="https://www.23andme.com/mpn"> myeloproliferative neoplasms</a>, both rare forms of cancer. But even with the best intentions we can be too easily distanced from the human side of the conditions we strive to cure.
Watching “50/50” reminded us that behind every research participant is a person with a unique story and unique experiences. Seeing Adam struggle for his life, in terms of his health but also in the overall sense of regaining his humanity and normalcy, was both humbling and inspirational.
This film makes us appreciate the effort required for research participation when life is in chaos. So we thank all of our sarcoma research participants who have chosen to join us in the fight against the disease so far. Together, we can work towards better odds.
“<a href="http://www.50-50themovie.com/" target="_blank" rel="noopener">50/50</a>” is in theaters now.  Check your local listings for show times.
Learn more about sarcoma at the <a href="http://www.curesarcoma.org" target="_blank" rel="noopener">Sarcoma Foundation of America</a>, <a href="http://www.beatsarcoma.org" target="_blank" rel="noopener">Beat Sarcoma</a>, and <a href="http://www.sarcomaalliance.org" target="_blank" rel="noopener">Sarcoma Alliance</a>.
Learn more about contributing to 23andMe’s Sarcoma research initiative <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener">here</a>.

“50/50” Shows Us the Human Side of Cancer

<img loading="lazy" decoding="async" class="alignright wp-image-6398 size-medium" title="sarcoma-large" src="http://35.88.189.111/wp-content/uploads/2010/04/sarcoma-large1-300x245.jpg" alt="Sarcoma Research logo" width="300" height="245" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/04/sarcoma-large1-300x245.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/04/sarcoma-large1.jpg 315w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Are you a sarcoma patient or survivor? Do you treat sarcoma patients? Maybe you know or care for someone suffering from this rare form of cancer. If sarcoma has touched your life, we invite you to join us for 23andMe’s Sarcoma Community Night on Tuesday, June 28, to connect to, learn from, and share with other people like you.
With this event, 23andMe aims to bring together sarcoma patients, survivors, and supporters to learn about patient and caregiver resources and 23andMe’s unique <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener">research initiative</a>. The event will also feature informational talks from leading sarcoma physicians and advocates. Food and drinks will be served.
While admission is complimentary, space is limited. Please RSVP and direct any questions to sarcoma-help@23andme.com, and be sure to let us know a little bit about how sarcoma has affected you.
We hope to see many of our research participants there, and many new faces, too!

23andMe Hosting One-of-a-Kind Sarcoma Community Night

<img loading="lazy" decoding="async" class="alignright size-full wp-image-9055" title="sarcoma image" src="https://blog-api.23andme.com/wp-content/uploads/2011/05/sarcoma-image1.jpg" alt="" width="315" height="257" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/05/sarcoma-image1.jpg 315w, https://blogcms.23andme.com/wp-content/uploads/2011/05/sarcoma-image1-300x245.jpg 300w" sizes="auto, (max-width: 315px) 100vw, 315px" />
Genetic research is a numbers game. The more people who contribute to the effort, the more powerful it gets. As our Sarcoma Community grows with survey responses and genetic data from participants, we learn more about sarcoma and people’s responses to treatment.
We are over halfway to our goal of 1,000 active participants and we continue our quest for new discoveries to share. More than 52 percent of our current community members have joined through advocacy groups that have partnered with 23andMe, such as ACOR, <a href="http://www.sarcoma-uk.org/" target="_blank" rel="noopener noreferrer">Sarcoma UK</a>, <a href="http://www.sarcomaalliance.org/main.shtml" target="_blank" rel="noopener noreferrer">Sarcoma Alliance</a>, and <a href="http://www.beatsarcoma.org/" target="_blank" rel="noopener noreferrer">Beat Sarcoma</a>. Others have learned about the Sarcoma Research Initiative through Yahoo groups, sarcoma blogs, social networking sites, friends, and visits to the <a href="https://www.23andme.com/" target="_blank" rel="noopener noreferrer">23andMe website</a>. In the last two months, over 100 new Sarcoma Community members have claimed their kits and been genotyped. More than 350 members have already taken the sarcoma survey &#8212; we have received over 80 new responses since our last update in early March. Thank you all for the support and contribution to this study.
Our community growth is exciting, but we still have a long way to go to reach 1,000 members. What is the critical number needed to reach a breakthrough? 600 participants? 800? 1,000? Our 23andMe scientists continuously look at the data, searching for a better understanding of the genetic components of sarcoma and its treatment.  While we continue on our quest for discoveries, we ask for your help to spread the word to sarcoma patients worldwide. The link to share is:  <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener noreferrer">https://www.23andme.com/sarcoma</a>.
Our goal is to feature at least one sarcoma event or patient story with each community post. Thank you to <a href="http://www.nlmsf.org/" target="_blank" rel="noopener noreferrer">National Leiomyosarcoma Foundation (NLMSF)</a> President Joni Fixel for sharing news from her organization’s annual meeting with the 23andMe Sarcoma Community.
<blockquote>Last month, the National Leiomyosarcoma Foundation (NLMSF) hosted its annual membership meeting in Branson, MO from April 7-9, 2011. It was a wonderful weekend of sharing, caring and learning about advances in the research funded by the NLMSF. On Thursday evening attendees met for a night to meet and share with each other. This was an opportunity to renew old friendships and make new ones. On Friday we heard from one of the researchers and a nutritionist who works with cancer patients. In the afternoon, attendees were offered an opportunity to tour the College of the Ozarks (also known as Hard Work U) where college students work instead of paying tuition. On Saturday morning the Annual Membership meeting took place.  Additional presentations were given by the doctors where the foundation funds the research. Members were able to ask questions directly of the research doctors and able to understand this rare cancer.  An update was given on the accomplishments of the NLMSF in the past year and the goals for the upcoming year. New Board members were announced and introduced to the membership. Throughout the weekend, information about 23andMe was given out and available for all attendees. For more information go to<a href="http://www.nlmsf.org/" target="_blank" rel="noopener noreferrer"> www.nlmsf.org</a>.</blockquote>
&#8211; Joni M. Fixel, President NLMSF
We look forward to sharing more information with the community soon. Please email information or questions to <a href="mailto:sarcoma-help@23andme.com" target="_blank" rel="noopener noreferrer">sarcoma-help@23andme.com</a>. Thank you again for supporting this valuable research effort.

Sarcoma Community Update

There is strength in numbers. With the help of our participants, we are well on our way to achieving our 1,000 person Sarcoma Community milestone. Thank you!
We have over 500 individuals who have joined our sarcoma group from all over the world and with ties to several different patient organizations. Just to give you an idea of how far we&#8217;ve come…
<ul>
<li>23andMe has shipped 550 kits to community members all over the globe</li>
<li>Over 400 Sarcoma Community members have logged in and claimed their kits</li>
<li>Over 270 Sarcoma Community members have taken the sarcoma survey</li>
</ul>
The potential of this community to make a difference in the understanding of sarcoma and the development of effective therapies is enormous. The value in research comes from participants sharing with us their genetic information and survey responses. If you&#8217;ve already joined this effort, please remember to claim those kits, send in your spit, and fill out the sarcoma survey if you have not done so already!
We need everyone&#8217;s help in spreading the word about our 23andMe Sarcoma Community to reach that 1,000 person goal. If you are part of any sarcoma online forums, advocacy groups, or social networking sites, please let your community know about our research efforts at 23andMe. The link to share is: <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener noreferrer">https://www.23andme.com/sarcoma</a>.
In this update, we&#8217;d also like to share a story from Nathalie Criou, a sarcoma survivor and founder of Beat Sarcoma. Nathalie has been instrumental in the 23andMe Sarcoma Community outreach effort. Her experiences and advocacy related to sarcoma are truly inspiring.
<blockquote>
I was diagnosed with sarcoma in late 2006, and spent most of 2007 in treatment for the disease. After my diagnosis, I was struck by how little was known about sarcoma and how difficult it was to find people in my situation. The local oncologists referred me to sarcoma center specialists &#8211; however, these world specialists had very little understanding of the disease themselves and even an accurate diagnosis was hard to find!
I received 8 different sarcoma diagnoses and 7 different treatment recommendations. I spent hours researching published papers on sarcoma to help me decide on a treatment path. I realized that most studies were not significant because the number of enrolled patients averaged about 3&#8230;There was no way to gauge how *I* would respond to any particular approach. My physicians referred to my treatments as &#8216;experimental&#8217;, &#8216;unproven&#8217;. I felt like anything would be a big shot in the dark&#8230;and I probably had only one shot&#8230;
Research in this field is trailing that of other cancers, yet sarcoma represents 20% of all childhood cancers, pointing at some genetic causes that could never be established through a lack of scalable research programs. This situation was unacceptable to me and I created a nonprofit, BeatSarcoma, as a vehicle for change. When 23andMe approached me with their idea of building a sarcoma community and free large-scale research program, I was thrilled. It addressed exactly the two most critical needs of the sarcoma community with a format that is perfect for our scattered group. Sarcoma research must be innovative, as traditional research formats have not yielded results so far. 23andMe embodies this spirit of innovation.
23andMe is eager to work with sarcoma specialists to drive toward the best possible results and has actively pursued partnerships with the world-leading experts. I immediately signed up to help in my own little ways and I will continue to do anything I can to support this effort. I really want this program to succeed so we can further our understanding of sarcoma. I trust that the model can be replicated over other cases of rare diseases.
Please help us spread the word through your local sarcoma organization, physicians and fellow patients or survivors. The success of this program rests on our shoulders!
&#8211; Natalie Criou
</blockquote>
We hope to have more stories and updates to share soon, but until then, please help us build this important research community!

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