Editor&#8217;s note: This post has been edited to reflect changes to the 23andMe ancestry product. 
Nearly 37 million Americans claim to have Irish heritage according to a <a href="http://www.census.gov/newsroom/releases/archives/facts_for_features_special_editions/cb11-ff03.html" target="_blank" rel="noopener noreferrer">national survey conducted in 2009</a>.
That’s over eight times the number of people living in Ireland today. Although it’s remarkable that nearly 1 in 10 Americans might say “Kiss Me I’m Irish!” on St. Patrick’s day, it’s not clear if all these people actually have Irish ancestors or if they simply feel an affinity for corned beef and green beer.
So how do you know if you have Irish ancestry? Often this information is passed down through family stories, for instance, my mother claims to be a quarter Irish and so I’m apparently one-eighth Irish.
But can I look at my DNA to verify this?
It turns out that <a href="../2010/09/29/ancestry-at-23andme-introducing-sheridan/" target="_blank" rel="noopener noreferrer">maternal and paternal lines</a> can offer some clues about Irish ancestry. 
In my case, my maternal line, traced through mitochondrial DNA that I inherited from my mother (thanks Mom!), told me that I’m a sub-type of a lineage called H6a (specifically H6a1b). H6a is is an offshoot of the broader H maternal line and is found at low levels – 4% or less – in the Czech Republic, Slovakia, France, Sweden&#8230; and Ireland! So, although it doesn’t completely verify the story, this one branch of my ancestral tree is at least consistent with claims of Irish ancestry on my mother’s side.
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What is a “maternal line”? 
Maternal lines are inherited through mitochondrial DNA – both women and men have mitochondrial DNA, but it’s only the mother’s mitochondrial DNA that is passed on to a child.
What is a “paternal line”? 
Paternal lines are inherited through the Y chromosome, which only men have. (Remember that women have two X chromosomes while men have one X and one Y chromosome). Since women don’t inherit a Y chromosome, they must trace their paternal line through their father’s, brother’s or paternal uncle’s Y-chromosome data.
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If instead, I want to see if I have Irish ancestry on my father’s side (even though my father has never claimed to be Irish!), I can investigate my paternal line, which is traced through DNA on the Y chromosome and passed from father to son.
Even though I don’t have a Y chromosome, I can learn about my paternal line through my biological brother’s or father’s DNA.
<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2799514/?tool=pubmed" target="_blank" rel="noopener noreferrer">85% of Irish men</a> belong to a paternal lineage called R1b1b2, but since this line is also common across the rest of western Europe, it doesn’t definitively determine if a man has Irish ancestry. If a man has a sub-type of this lineage (called R1b1b2a1a2f2), however, it’s much more likely that his DNA might actually trace to Ireland. Research suggests that many men of this line are descendants of an Irish king named “Niall of the Nine Hostages” who ruled during the 4th and 5th centuries.
According to legend, Niall led one of the most powerful and enduring Irish kingdoms and it has been suggested that because of high rates of Irish emigration to North America and other parts of the world,<a href="http://www.newscientist.com/article/dn8600-medieval-irish-warlord-boasts-three-million-descendants.html" target="_blank" rel="noopener noreferrer"> up to two or three million</a> men descend from Niall!
<a href="../2010/09/16/ancestry-at-23andme-what-can-you-learn/" target="_blank" rel="noopener noreferrer">Learning about our ancestry</a> is particularly fun when we can toast to it. Even if you don’t have Irish ancestry, we wish you a Happy St. Patrick’s day and encourage you to explore the hidden stories in your DNA.

23andMe Blog

23andMe Blog Team

Did You Know? DNA Can Offer Clues about Irish Ancestry.

<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

Luck is not the word you typically associate with a cancer diagnosis or even a heightened risk of cancer, but some people can see a silver lining even in the darkest storms.
Harvey Gould and John Lauerman certainly have.
“Some believe that blessings come out of serious adversity,” said Harvey, who was diagnosed with a rare blood cancer called primary myelofibrosis almost 12 years ago. “Count me as one of the believers.”
Lauerman, a reporter for Bloomberg News doesn’t have the disease, but he<a href="https://www.bloomberg.com/news/2012-02-15/harvard-mapping-my-dna-turns-scary-as-threatening-gene-emerges.html"> recently wrote</a> about discovering in his own genetic sequence a variant – JAK2-V617F – that is associated with getting it. 
In his detailed piece Lauerman talks openly of the anxiety he feels about what he learned but when someone says maybe he would’ve been better off never learning of the risk, he quickly sets them straight. 
“I feel I learned something valuable about myself,” Lauerman told Ira Flatow recently on NPR’s Science Friday. 
While he has some anxiety about the risk, he said in a video posted by Bloomberg it’s something he feels fortunate to have learned about. 
&#8220;Overall, I feel lucky that I&#8217;m aware of this potential problem,” he said in the video, “and that as a result of having my genome sequenced. I might be able to get treatment early if there&#8217;s anything wrong.&#8221;
Beyond what we can learn from the resilience and grace both Harvey and John have displayed, their experience is telling for what it’s like for anyone with a rare disease or at risk of getting one.
Because these diseases are so seldom seen, once a diagnosis is made a patient begins a sometimes lonely scramble to get information about what they are facing. Like many people fighting against a rare disease, Harvey had never heard of primary myelofibrosis until his diagnosis. When he first got the news, Harvey recorded the conversation so he wouldn’t miss anything. He and his wife then spent hours scouring the Internet for anything they could find written about the disease. Lauerman writes about another patient he interviewed with the disease doing much the same thing.
Answers are often hard to come by and just as a person with one of these illnesses can feel isolated and alone, so too can the researchers searching for a cure feel orphaned. Often patients gathering together offer the best help by exchanging what they know about the latest treatments, reactions to medications, clinical trials and new research.
Although individually rare diseases are unusual, about 30 million Americans suffer from one of the roughly 6,800 rare diseases that have been identified. We know that most of these diseases – more than 80 percent of them – have a genetic component, but because they are rare and people with the conditions are not concentrated in one area, it has been difficult to bring them together for research and support.
But a lot has changed since Harvey got his diagnosis and told he might have three to five years to live. For one we now know of the JAK2 mutation’s association with the disease.
Studying rare disease is where 23andMe’s web-based research platform offers so much opportunity, by providing a simple and quick way to gather together a community of people into a web-based research platform to study the genetics behind these diseases. Last year we started our <a href="https://www.23andme.com/mpn/" target="_blank" rel="noopener noreferrer">Myeloproliferative Neoplasms (MPN) Research Initiative</a>. The intent is also to create momentum for research and learn more about the illness, its causes and possible treatments.
Harvey, a former trial lawyer who is the father of Ashley Gould, 23andMe’s vice president of corporate development and chief legal counsel, is also one of the first members of 23andMe’s MPN initiative. Last summer Ashley<a href="../articles/my-father-myelofibrosis-and-me/#more-8535"> poignantly wrote</a> about her father’s story to encourage participation in the initiative.
“While my father’s gift for humor has helped us all cope, we still have many unanswered questions stemming from his experience,” Ashley wrote. “If we knew more about the genetic components of the disease, would researchers be able to find causes and cures? Could doctors better anticipate the progression of the disease? Could doctors better tailor drugs to their patients? Responses to these questions remain unknown for many of the myeloproliferative neoplasms. It’s our search for answers that has lead to the formation of 23andMe’s MPN research initiative.”
Harvey recently wrote the book,<a href="http://harveygould.com/book_236.html"> “A Fierce Local”</a> in which he touches on his illness woven into stories about his love of Ireland, horses and his Irish Catholic wife. His diagnosis clearly doesn’t define him, but it has clarified what is important.
“Life is a gift that up until my diagnosis I took for granted,” he said.

Silver Linings in Rare Disease

<img loading="lazy" decoding="async" class="aligncenter wp-image-4127 size-full" src="http://35.88.189.111/wp-content/uploads/2009/07/red-white-blood-cells.jpg" alt="" width="400" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/07/red-white-blood-cells.jpg 400w, https://blogcms.23andme.com/wp-content/uploads/2009/07/red-white-blood-cells-300x225.jpg 300w" sizes="auto, (max-width: 400px) 100vw, 400px" />
By Bethann Hromatka, Ph.D.
Myeloproliferative neoplasms (MPN) have a complicated name but it’s an apt descriptor for the biology underlying this group of rare blood disorders.
<h2>Blood Cells and Bone Marrow</h2>
MPNs result from excessive production of “myeloid” blood cells that originate in the bone marrow.
They come in different forms, including essential thrombocythemia (ET), polycythemia vera (PV), myelofibrosis (MF), chronic myeloid leukemia (CML), and systemic mastocytosis. Most forms of MPN are cancerous, and all types are rare, with each affecting fewer <a href="http://www.mpnresearchfoundation.org/Primary-Myelofibrosis#Prevalence_2" target="_blank" rel="noopener">than 100,000 Americans</a>.
In 1951, a physician named William Dameshek proposed the idea of myeloproliferative disorders. Still, it wasn’t until 2005 – when four articles were published back-to-back on the V617F mutation in the JAK2 gene – that researchers began to uncover clues about the genetic basis of these diseases.
<h2>The V617F Mutation</h2>
Discovered in blood cells of people with MPN, the V617F mutation is defined as a somatic or acquired mutation, which means that it arises during a person’s life as opposed to being a change in DNA that someone is born with. (See sidebar for more about the JAK2 V617F mutation and its clinical use.)
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<h2>JAK2 in the Clinic</h2>
The JAK2 protein is a <a href="http://www.cellsignal.com/reference/kinase/" target="_blank" rel="noopener">tyrosine kinase</a> and plays important roles in the cell by directing the activity and movement of other proteins. Although more research is needed to clearly define the role of the JAK2 V617F mutation in myeloproliferative disease, there is strong evidence that cells bearing this mutation are less prone to dying and are very good at making multiple copies of themselves, a hallmark of cancer. The World Health Organization (WHO) has recommended that the JAK2 V617F mutation be used as a <a href="https://www.nature.com/leu/journal/v22/n1/full/2404955a.html" target="_blank" rel="noopener">diagnostic marker of disease</a> and numerous companies are developing <a href="http://journals.lww.com/oncology-times/Fulltext/2011/02250/JAK2_Inhibitors__Still_Need_to_Prove_Their_Mettle.9.aspx" target="_blank" rel="noopener">drugs to inhibit the activity of JAK2</a>, though it is too early to tell if they will be successful.
<img loading="lazy" decoding="async" class="alignnone wp-image-11528 size-medium" src="http://35.88.189.111/wp-content/uploads/2012/03/MPN-progression-300x228.png" alt="" width="300" height="228" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/MPN-progression-300x228.png 300w, https://blogcms.23andme.com/wp-content/uploads/2012/03/MPN-progression-768x583.png 768w, https://blogcms.23andme.com/wp-content/uploads/2012/03/MPN-progression.png 871w" sizes="auto, (max-width: 300px) 100vw, 300px" />
This figure shows that people who inherit predisposing JAK2 variants have higher odds of acquiring the JAK2 V617F mutation, which is thought to push the cell to make multiple copies of itself. But it’s not the only factor leading to MPN. Although most people with the polycythemia vera (PV) form of MPN have the V617F mutation, many people with other types of MPN do not.
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In addition to the V617F mutation, several studies, performed mainly in people with European ancestry, have shown that inherited genetic factors may also increase the risk for MPN. A cluster of SNPs in the JAK2 gene, the 46/1 or GGCC JAK2 haplotype, has been associated with MPN and seems to be a predisposing factor for acquiring the V617F somatic mutation. People with a G at (<a href="https://www.nature.com/ng/journal/v41/n4/full/ng.341.html" target="_blank" rel="noopener">equivalent to in the study</a>) had nearly four times higher odds of developing V617F-positive MPN than those without the G version. 23andMe recently replicated this association. However, we see a smaller effect – in our database, people with a G have about two times the odds of developing V617F-positive MPN compared to people without the G version.
<h2>The Japanese Cohort</h2>
A more recent study with a Japanese cohort suggests that the association between relatively common variants in the JAK2 gene and MPN also applies to individuals with Asian ancestry.
Junko Ohyashiki and colleagues from Tokyo Medical University report that people with an A at in the JAK2 gene (equivalent to those reported in the study and highly correlated with ) have about four times higher odds of developing V617F-positive MPN compared to individuals without the A version.
When they looked more closely, they found even stronger evidence for the association and a larger effect in patients with the polycythemia vera (PV) form of MPN, which is consistent with the fact that over 95% of people with PV have the V617F mutation. In contrast, only about half of people with essential thrombocythemia (ET) or myelofibrosis (MF) have V617F. The SNP did not appear to be linked to V617F-negative MPN.
<h2>Looking Ahead</h2>
Although these findings are still preliminary since they were collected from relatively small studies (Ohyashiki&#8217;s findings came from just 95 people with MPN), they are still exciting progress in research on these rare disorders. That relatively common genetic variation might predispose individuals to acquire other mutations during their lifetime is an intriguing concept requiring more research.
Editor’s note: This post has been edited from the original to reflect changes to our product.

Bethann Hromatka

The Jist on JAK2 and Myeloproliferative Neoplasms

<img loading="lazy" decoding="async" class="alignnone size-medium wp-image-2604" src="https://blog-api.23andme.com/wp-content/uploads/2009/01/itchy-300x222.jpg" alt="" width="300" height="222" />
By Bethann Hromatka, Ph.D.
Sometimes called the “itch that rashes”, atopic dermatitis, or eczema, is a relatively common condition, affecting up to one in five children and one in 30 adults (many people outgrow it by early adulthood).
It can be both physically painful and emotionally difficult to live with since it’s not a disorder that hides inside of you. Although atopic dermatitis appears to run in families, the genetics underlying this condition are not well understood and up until recently only a few genetic variants had been linked to it.
New findings published in December in <a href="https://www.ncbi.nlm.nih.gov/pubmed/22197932" target="_blank" rel="noopener">Nature Genetics</a> by lead author Lavinia Paternoster now add more genetic variants to the picture. This study, performed in conjunction with researchers from around the world, analyzed data from over 50,000 people with European ancestry, roughly 11,000 of whom had atopic dermatitis. In addition to confirming previously discovered associations with atopic dermatitis – with functional variants of the <a href="https://www.ncbi.nlm.nih.gov/pubmed/21666691" target="_blank" rel="noopener">filaggrin gene</a>, which are present in<a href="https://www.ncbi.nlm.nih.gov/pubmed/21173567" target="_blank" rel="noopener"> 25-50% of people with this disorder</a>, and in <a href="https://www.ncbi.nlm.nih.gov/pubmed/19349984?ordinalpos=1&#038;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum" target="_blank" rel="noopener">a region of chromosome 11</a> – the findings also provide further genetic evidence that this condition likely results from defects in immunological and skin barrier pathways. 

<div style="float: right; text-align: justify; width: 285px; padding: 15px; margin-left: 15px; margin-top: 10px; border: 1px solid #ccc;">The Link Between Atopic Dermatitis, Asthma and Allergies 
<img decoding="async" class="alignright size-thumbnail wp-image-9185" style="margin-right: 15px;" title="allergy" src="https://blog-api.23andme.com/wp-content/uploads/2011/06/allergy-150x150.jpg" alt="" width="130" /><img decoding="async" class="alignright size-thumbnail wp-image-5814" title="inhaler_asthma" src="https://blog-api.23andme.com/wp-content/uploads/2010/01/iStock_000003241516XSmall-150x150.jpg" alt="" width="130" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/01/iStock_000003241516XSmall-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2010/01/iStock_000003241516XSmall-271x271.jpg 271w" sizes="(max-width: 150px) 100vw, 150px" />
<div style="margin-top: 10px;">Many people with atopic dermatitis also suffer from asthma or allergies (hay fever and food allergies), but there isn’t a 1:1 correlation. Environmental factors that exacerbate atopic dermatitis – allergens in the air, some chemicals, and emotional stress – can also trigger asthma. People with atopic dermatitis may also react positively on skin allergy tests. On the genetic side of the equation, these conditions tend to run together in families and although a number of <a href="http://www.nejm.org/doi/full/10.1056/NEJMra1011040" target="_blank" rel="noopener">studies</a> have implicated functional variants of the filiggrin gene in all of them, researchers are still teasing out the details. 23andMe does not report on these relatively rare variants.</div>
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One of the SNPs newly associated with atopic dermatitis, is located in the OVOL1 gene, which encodes a protein that plays important roles in skin cells. Another SNP is located near a group of immune system genes on chromosome 5 that have been tied to other immune diseases like psoriasis, Crohn’s disease and asthma.
When the researchers looked in more detail at genetic variants involved in the immune system, they found an even stronger association at another SNP located in the IL13 gene. Their in-depth analysis suggests that the associations on chromosome 5 are centered on the immune genes IL13 and IL4, which encode cytokines –  small molecules that circulate in the body and regulate the immune system.
Although the causes of atopic dermatitis are still a puzzle, scientists are beginning to learn more about the genetic components and their relationship to environmental factors. Future research may follow up on the immune system and skin-related pathways identified by Paternoster and colleagues and perhaps further determine if atopic dermatitis, asthma and allergies are genetically linked.

New Genetic Insight into the Causes of Eczema

<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;"><iframe loading="lazy" src="https://player.vimeo.com/video/34531632?title=0&amp;byline=0&amp;portrait=0&amp;color=1d2d85" width="200" height="115" frameborder="0"></iframe>Finding Your Roots Finding Your Roots With Henry Louis Gates, Jr. is a 10-part series in which the Harvard scholar will delve into the genealogy and genetics of famous Americans. Gates uses history and science, including 23andMe’s ancestry tools, to explore race, family and identify in each episode. With the help from expert genealogists, historians and scientists –two of 23andMe’s own helped in the work – Gates reveals fascinating stories and interesting surprises in the family histories of Kevin Bacon, Robert Downey, Jr., Brandford Marsalis, John Legend, Martha Stewart, Barbara Walters and many others. 
23andMe’s Senior Director of Research, Joanna Mountain, is a geneticist who worked as a consultant on the series and was interviewed for a few of the episodes. Mountain, who completed her Ph.D. in Genetics at Stanford University, is also a guest blogger for the series. Her post below first appeared on the Finding Your Roots program page. We’re republishing it here with the permission of PBS.</div>
By Joanna Mountain, Ph.D.,  Senior Director of Research 23andMe
As a geneticist at 23andMe, I combine my understanding of human prehistory and DNA variation to develop tools that help people answer one of the more fundamental questions we ask ourselves:
“Where am I from?”
It’s always fascinating and often surprising to answer that question, as the powerful stories in PBS’s series “Finding Your Roots” illustrate.
Intriguingly, the question “Where are you from?” has a precise meaning for many eastern Africans, as I learned when I was a Peace Corps volunteer in Kenya.
I always respond to that question with “California,” where I have lived most of my life, rather than “England” where I was born.
But unlike many Americans, Kenyans often respond to that question with a description of their ancestral origins – the place and its people. They may never have visited the place or people, but that is where they are “from.”
The answer to this question about our deeper ancestry allows us to connect with our ancestors of hundreds or thousands of years ago.
If we go back far enough in human history the answer to the question “where are you from” is the same for everyone:
“We’re from Africa.”
But telling someone that “we are all from Africa” doesn’t really answer the question about a person’s origins.
Our DNA has no sense of where we live or where we were born, but it does point directly to our deeper ancestry and to where our ancestors were living over the last few thousand years. This power of DNA to answer questions about human prehistory is what drew me to genetics in the first place. Solving puzzles and mysteries has always fascinated me.
My passion for genetics is also rooted in Africa, in Kenya specifically, where I taught math and science as a Peace Corps volunteer 25 years ago. The mystery I came across there was in the faces, languages and diets as well as other cultural practices of the people I met. I couldn’t help being fascinated by the diversity. The tall, slender Nilotic-speaking Maasai of southwestern Kenya differ in so many ways from the Bantu-speaking Mijikenda who live on the eastern coast where I was teaching. I left Kenya mystified by the origins of that diversity.
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-11489" title="Joanna in Kenya" src="https://blog-api.23andme.com/wp-content/uploads/2012/02/Joanna-in-Kenya-300x199.jpg" alt="" width="300" height="199" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/02/Joanna-in-Kenya-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/02/Joanna-in-Kenya-768x510.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/02/Joanna-in-Kenya-1024x680.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/02/Joanna-in-Kenya-880x584.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/02/Joanna-in-Kenya-1180x784.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Shortly after I returned home to California, a friend introduced me to a famous geneticist at Stanford University, <a href="https://en.wikipedia.org/wiki/Luigi_Luca_Cavalli-Sforza#External_links">Luca Cavalli-Sforza</a>, who would give me the tools to solve that mystery. Cavalli-Sforza, who recently celebrated his 90th birthday, taught me the basics of DNA and the theories of population genetics. Together we poured over genetic data of peoples from all continents. Our goal was to discern the broad patterns of ancient human migrations.
I went on to earn my PhD in genetics, delving more deeply into the mysteries of human prehistory. Throughout my research I returned to focus on Africa, trying to understand the diversity that I had observed in Kenya. My research, conducted with collaborators from around the world, helped reveal the general shape of the history of African peoples over the last 100,000 years. We now believe that the ancestors of living peoples began to move from eastern or southern Africa into other parts of the continent by 75,000 years ago. This early spread within Africa explains the high level of genetic diversity in the continent today.
The diversity among the people of Kenya that I noticed over two decades ago, which sparked my interest in the study of genetics, has been explained in part by migrations into eastern Africa of people speaking all the major languages of Africa. We’ve learned this by combining genetic information with archaeological and linguistic evidence.
In the same way that we can understand the diversity within Africa, we can understand the diversity of all living people by studying DNA, archaeology and languages. Both the origins of humankind in Africa and the patterns of subsequent migration within and outside of Africa are written in the DNA of living people. We all share a common history in Africa, but the DNA of people both within Africa and elsewhere has differentiated over time as people migrated across the planet, becoming, until the last few hundred years, more and more isolated from one another.
Now that we know how DNA aligns with prehistoric migrations, we can trace the DNA of individuals to northern Europe or Central Asia, South America or the Near East, western Africa or Oceania. That information about where DNA is from can, in turn, answer questions about our ancestors. Were they struggling to feed their children through hunting red deer in northern Europe, harvesting shellfish in southeastern Asia, raising alpacas in the highland plateaus of western South America, or digging for tubers in eastern Africa? DNA shows that some of us have ancestors who faced the challenge of survival using several of these strategies.
<iframe loading="lazy" src="https://www.youtube.com/embed/xnZWMOpmoRk" width="420" height="315" frameborder="0"></iframe>
When Henry Louis Gates sits down with his guests and tells them their story of “where they are from” and explains their ancestry, it is a story that was written in their DNA many generations ago.
Joanna Mountain is a geneticist who is a consultant to the PBS series “Finding Your Roots,” and consulted previously on the PBS series “Faces of America.” Dr. Mountain completed her PhD in Genetics at Stanford University and has spent over 20 years studying human genetic diversity. Currently, she is Senior Director of Research at <a href="https://www.23andme.com/">23andMe, Inc.</a>

Senior Director of Research, 23andMe

Joanna Mountain

Solving Mysteries via DNA

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Today, February 29, is <a href="http://rarediseaseday.us/" target="_blank" rel="noopener noreferrer">Rare Disease Day</a>, a concept first initiated by the European Rare Disease Organization (EURORDIS) and now recognized worldwide.
When we think about diseases we often describe them as either common or rare. Common conditions – like heart disease and obesity – are complex in nature, meaning they are influenced by genetics and the environment. Conversely, most rare diseases are strongly influenced by genetics and less so by the environment. We hear a lot about common conditions because so many people have them, and in contrast, relatively little about rare diseases. But how rare is rare?
In the United States, a disease is defined as “rare” if it affects <a href="http://rarediseaseday.us/about/" target="_blank" rel="noopener noreferrer">fewer than 200,000 individuals</a> or roughly one in 1500. Rare diseases are often poorly understood, with symptoms that can be difficult to diagnose and can be life-threatening. Around 6,800 rare diseases have been identified and the large majority of them – up to 80% – are thought to have a genetic origin. Most rare diseases can’t be cured, and many lack effective treatments because research on rare conditions is often hampered by a scarcity of study participants and poor funding.
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Join the Global Genes Projectâ„¢ and help unite one million people for rare diseases. The Global Genes Projectâ„¢ is a campaign that works to help individuals and organizations participate in this annual day of recognition for rare diseases. Getting involved can be as simple as putting on a pair of genes (ahem, jeans) – because 80% of rare diseases have a genetic origin – or as involved as organizing a local Denim &amp; Genes event.
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If you add up all the rare diseases, about 30 million Americans suffer from a rare disease. That’s nearly 10% of the population—suddenly, rare is not so rare! You’ve likely heard of at least some of these conditions, and 23andMe provides health reports for many of them, from cystic fibrosis to sickle cell anemia.
23andMe believes that our innovative research model can improve the treatment of rare diseases. So far, we’ve launched research initiatives for two rare diseases—myeloproliferative neoplasms (MPNs) and sarcoma—to better understand their causes and help bring about treatments. We are currently enrolling participants in both studies, so join our cause if you suffer from one of these disorders or know of someone who does.

Did You Know? It’s Not so Rare to Have a Rare Disease

<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>
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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.

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