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.

23andMe Blog

23andMe Blog Team

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

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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.

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

<img loading="lazy" decoding="async" class="alignnone size-medium wp-image-11157" src="https://blog-api.23andme.com/wp-content/uploads/2012/02/white_pillsiStock-300x225.jpg" alt="" width="300" height="225" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/02/white_pillsiStock-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/02/white_pillsiStock.jpg 400w" sizes="auto, (max-width: 300px) 100vw, 300px" />
The realization of a long-awaited hope arrived this past month for many families in the form of a new treatment for cystic fibrosis. Cystic fibrosis (CF) is one of the most common recessively inherited diseases, affecting about 30,000 people in the United States. There are at least 500 mutations in a gene called CFTR that cause CF, but about 4% of patients carry a particular mutation targeted by this new therapy. For these individuals, hope for a <a href="https://online.wsj.com/article/SB10001424052970204740904577195144014038270.html" target="_" rel="noopener">longer</a> and <a href="https://online.wsj.com/article/SB10001424052970203752604576641142993831036.html" target="_" rel="noopener">fuller</a> life is now a tangible reality.
Individuals with cystic fibrosis produce thick mucus in their lungs in which bacteria thrive leading to constant lung infections. Treatments, until now, have targeted the symptoms: loosening and thinning the mucus, treating infections, and widening the airways. Because of these treatments, many people with CF now live into their thirties or even forties.  Nevertheless, anyone affected by CF will tell you that these treatments and the resulting additional few decades of life are no substitute for a cure.
Last month the FDA approved the drug ivacaftor (Kalydeco ®) as the first treatment to address one of the underlying causes of CF, as opposed to just the resulting symptoms.  Ivacaftor targets a particular mutation called G551D. G551D is an example of a CFTR “gating” mutation; it prevents the CFTR protein from opening and closing as it normally would on the cell surface.
In November, 2011, Dr. Ramsey from the Seattle Children’s Hospital and University of Washington School of Medicine Seattle <a href="https://www.ncbi.nlm.nih.gov/pubmed/22047557" target="_" rel="noopener">published</a> a study in the New England Journal of Medicine showing that ivacaftor is effective in treating individuals with the G551D mutation. The study showed that the ivacaftor-treated individuals fared far better than their placebo counterparts over the 48-week study: they gained more weight, suffered fewer serious adverse events, showed improvements in lung function, and reported a better quality of life. This study, and those like it, motivated the FDA to approve ivacaftor for CF-affected individuals over six years of age with at least one G551D mutation.
The approval of this new treatment is an exciting development for individuals carrying the G551D mutation.  What impact ivacaftor will have on the other 96% of CF patients, however, is yet to be seen. It may be possible that ivacaftor can treat patients with other CFTR gating mutations, such as S549N or S549R, as suggested by the recent <a href="https://www.ncbi.nlm.nih.gov/pubmed/22293084" target="_" rel="noopener">investigation</a> led by Dr. Yu at Vertex Pharmaceuticals, the company that developed ivacaftor. It is unlikely, however, that ivacaftor could be used in isolation to treat most other types of mutations. For instance, ivacaftor would likely not benefit patients whose CF is caused by the most common deltaF508 mutation, which affects the shape of the CFTR protein and prevents it from reaching the cell surface in the first place. It may be possible, however, to use ivacaftor in conjunction with other drugs to treat CF patients with mutations other than G551D.
Many are recognizing ivacaftor&#8217;s impact on the perception of personalized medicine in general. FDA Commissioner Dr. Margaret Hamburg called ivacaftor (Kalydeco ®) &#8220;an excellent example of the promise of personalized medicine — targeted drugs that treat patients with a specific genetic makeup.&#8221;  President and CEO of the Cystic Fibrosis Foundation, Dr. Robert Beall, hails the drug &#8220;an amazing proof of concept&#8221; and foresees it as the next &#8220;poster child of personalized medicine.”  Ivacaftor, thus, is the fruition of hopes held by pharmacogeneticists as well as CF patients. This powerful little pill represents a great step forward, both for personalized medicine and for CF treatment.

Hope in a Pill: New Treatment for Cystic Fibrosis Approved

<img loading="lazy" decoding="async" class="alignnone size-medium wp-image-9427" src="https://blog-api.23andme.com/wp-content/uploads/2011/07/RootsLogo-300x300.png" alt="" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-768x768.png 768w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-1024x1024.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-880x880.png 880w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-372x372.png 372w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-574x574.png 574w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-980x980.png 980w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo.png 1050w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Although there has been a recent boom in DNA research, little is known about the connection between DNA and disease in African Americans.
Most genetic research studies intentionally limit enrollment to a single population—usually northern Europeans—since the analysis is easier to carry out in groups tracing ancestry to just one continental region.
Since discoveries made in one population aren’t always applicable to other ancestral groups (a genetic variant might not be associated with other populations or have a different effect), it is essential to carry out additional research. Studying African Americans is complicated, though – most members of this group <a href="../2010/01/11/large-study-reveals-details-of-african-american-genetic-ancestry/" target="_blank" rel="noopener noreferrer">trace their ancestry to both Africa and Europe</a>. It isn’t straightforward to figure out which pieces of their chromosomes came from each continent, which is essential for teasing out links between DNA and disease.
<h2>Bridging the Gap 
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<img loading="lazy" decoding="async" class="alignright wp-image-11356 size-larger" src="http://35.88.189.111/wp-content/uploads/2012/02/AFrican-Ancestry-woman2-833x880.png" alt="" width="833" height="880" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/02/AFrican-Ancestry-woman2-833x880.png 833w, https://blogcms.23andme.com/wp-content/uploads/2012/02/AFrican-Ancestry-woman2-284x300.png 284w, https://blogcms.23andme.com/wp-content/uploads/2012/02/AFrican-Ancestry-woman2-768x812.png 768w, https://blogcms.23andme.com/wp-content/uploads/2012/02/AFrican-Ancestry-woman2-969x1024.png 969w, https://blogcms.23andme.com/wp-content/uploads/2012/02/AFrican-Ancestry-woman2.png 1023w" sizes="auto, (max-width: 833px) 100vw, 833px" />
In this example of an ancestry painting from 23andMe, an African-American woman has DNA that traces to Europe (blue), Africa (green), and Asia (orange). Theoretically, a genetic factor identified in Europeans could be applicable if she inherited the version of the genetic factor tracing to Europe instead of the version tracing to Africa or Asia. It isn’t always this straightforward, however, and association studies should be carried out in African American cohorts to confirm or negate that the genetic factor is applicable.
</div>
Bridging the gap in research is particularly important for diseases that affect African Americans more than the rest of the population. Prostate cancer is a prime example. African American men have the <a href="http://www.cancer.gov/cancertopics/factsheet/disparities/cancer-health-disparities#9" target="_blank" rel="noopener noreferrer">highest rate of prostate cancer in the United States</a>. They are more than twice as likely as men of other ethnicities to die of the disease (62% in African American males versus 26% in American males of European descent).
These numbers are staggering and point to disparities in medical access treatment and scientific research.
<h2>23andMe&#8217;s Efforts</h2>
At 23andMe we strive to provide meaningful genetic health reports to individuals of all ethnicities but are often hampered by the lack of published studies in non-Europeans. The need for more research involving African Americans is further supported by recent studies showing that many factors linked to prostate cancer in European populations <a href="../2011/06/27/ethnicity-matters-in-research-a-case-study-in-prostate-cancer/" target="_blank" rel="noopener noreferrer">don’t apply to African Americans</a> and by the fact that less than one-third of our current health reports provide results applicable to people with African ancestry.
23andMe recognizes that research has lagged in this area. In an effort to reverse this trend, it has launched Roots into the Future, an initiative aimed at discovering connections between DNA and disease in 10,000 African Americans. Our aim is to provide disease risk reports for everyone—regardless of their ancestral origins—and you can be a part of this exciting process.
February is Black History Month – see our previous posts on <a href="../2012/02/14/did-you-know-one-in-twelve-african-americans-has-sickle-cell-trait/" target="_blank" rel="noopener noreferrer">sickle cell disease</a> and <a href="../2012/02/22/did-you-know-ancestry-is-not-so-black-and-white/" target="_blank" rel="noopener noreferrer">African ancestry</a>!

Genetic Research Lags for African Americans

Data from the 2010 census showed that about 13% of people living in the United States self-identify as African American, but from a genetic point of view, ethnicity isn&#8217;t so black and white.
Most African Americans have genetic ancestry tracing back to both Africa and Europe but the exact proportion can vary widely. And conversely, many Americans who consider themselves of completely European descent may actually have some African ancestry as well.
A<a href="https://www.pnas.org/content/107/2/786" target="_blank" rel="noopener noreferrer"> study</a> published a few years ago found that the <a href="../2010/01/11/large-study-reveals-details-of-african-american-genetic-ancestry/" target="_blank" rel="noopener noreferrer">average amount of DNA in an African American’s genome</a> that could be traced back to West Africa was about 77%, but ranged from as little as one percent to as much as 99%.
At 23andMe, researchers have looked at the genetic ancestry of about 78,000 customers likely to consider themselves as entirely of European ancestry and found that somewhere between three to four percent of those people have <a href="https://blog.23andme.com/articles/hidden-african-ancestry" target="_blank" rel="noopener noreferrer">“hidden” African ancestry</a> ranging from 0.5 to 0.75 percent. These findings suggest that this group of customers have an African ancestor who lived about six generations, or about 200 years, ago.
The United States is often referred to as a “melting pot” and although African Americans comprise the largest racial minority, this country is also home to many other genetically mixed groups. Indeed, Americans with ties to Latin America typically have DNA deriving from <a href="http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1000037" target="_blank" rel="noopener noreferrer">Native American, European and sometimes African</a> populations.
By studying genetic ancestry, researchers can break down the proportion of a person’s DNA that traces to different parts of the world and learn more about our unique and interconnected histories.
February is<a href="http://www.history.com/topics/black-history-month" target="_blank" rel="noopener noreferrer"> Black History Month</a> – stay tuned for more posts!
Did you know? provides tidbits of information about genetics (in humans and in other animals) and explains how DNA relates to both ancestry and health.

Latest Posts — Page 159