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.)
<div style="float: right; text-align: justify; width: 300px; background-color: #eee; padding: 10px; margin-left: 15px; margin-bottom: 15px; font-size: 12px;">
<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.
</div>
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

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

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

<img decoding="async" class="alignright size-medium wp-image-8663" title="BW_Ash" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/BW_Ash-300x204.jpg" alt="Ashley Gould with her father, Harvey" width="335" />

by Ashley Gould 
Vice President Corporate Development &amp; Chief Legal Officer, 23andMe


Linda Avey and Anne Wojcicki created 23andMe based on a number of visions. They described one of these to me in early 2007, capturing my imagination and playing a large role in my decision to become a member of the 23andMe team. This vision was of a web-based, patient-driven method of conducting research that removes physical boundaries and accelerates the search for answers.
The company has already made this vision a reality by launching <a href="https://www.23andme.com/pd" target="_blank" rel="noopener noreferrer">Parkinson’s</a> and <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener noreferrer">Sarcoma</a> Communities with participant data streaming in daily from dedicated surveys.
I am privileged and excited to announce that 23andMe is launching a <a href="https://www.23andme.com/mpn/" target="_blank" rel="noopener noreferrer">Myeloproliferative Neoplasms (MPN) Community</a> for patients with polycythemia vera (PV), essential thrombocythemia (ET), myelofibrosis (primary, post-PV and post-ET myelofibrosis), chronic myelogenous leukemia (CML), mastocytosis, and hypereosinophilic syndrome (HES) / related eosinophil disorders.
This group of rare blood cancers affects production of blood cells in the bone marrow and has no known cure except for blood or marrow transplantation.
My father, Harvey Gould, is now in his 11th  year living with a diagnosis of primary myelofibrosis (PMF), a type of MPN in which the bone marrow makes abnormal blood cells and is replaced by increasing amounts of fibrous scar tissue over time. He is one of a relatively small group of PMF patients in the United States.  
A <a href="https://www.ncbi.nlm.nih.gov/pubmed/10331505" target="_blank" rel="noopener noreferrer">study by the Mayo Clinic</a> reported an incidence of 1.46 per 100,000 persons (1), and a prevalence of 30,000 patients nationwide. It’s also likely that some individuals don’t even know they have the disease because only highly trained specialists can diagnose it. The challenging nature of the disease, low incidence rate, and perhaps under-familiarity with the disease may partly explain why significant resources have not been applied towards identifying both inherited and acquired causes of myelofibrosis or towards development of effective therapies for this chronic and debilitating disease.
In 2005, several groups identified a mutation in the gene JAK2, referred to as JAK2 V617F in several MPNs. It is found in approximately 95% of patients with PV, and 50-60% of patients with ET and PMF.   The JAK2 protein is a signaling protein within cells; when JAK2 is mutated, it contributes to increased signaling in cells and abnormal cell proliferation, a hallmark of these blood cancers.   A number of clinical trials are now in progress with JAK inhibitors targeting the JAK2 protein and related signaling abnormalities in cells.  
These trials, now mostly in patients with myelofibrosis, are listed at <a href="http://www.clinicaltrials.gov/" target="_blank" rel="noopener noreferrer">www.clinicaltrials.gov</a>  (search term &#8220;myelofibrosis&#8221; and &#8220;JAK2&#8221;). These investigational drugs have demonstrated substantial activity shrinking patient spleen size and improving symptoms. These JAK inhibitors have the potential to be the first major class of drugs approved for myelofibrosis. We’re looking to gather valuable information that might be helpful to researchers who are studying these diseases and inspire others to join in.

<img loading="lazy" decoding="async" class="alignleft size-medium wp-image-8667" style="margin-top: 5px;" title="color_Ash" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/color_Ash-300x195.jpg" alt="Ashley and Harvey Gould at Ashley's wedding" width="335" height="218" />

I know from following my father’s struggles that treating myelofibrosis is more of an art than a science, even with highly skilled physicians involved. For more than four years, the drug imatinib (Gleevec ®) seemed to be helping, and then it simply stopped working. Why did it work at all when it does not work for most myelofibrosis patients? Why did it suddenly stop being effective?


A few years ago, while in Ireland, my father collapsed when his hemoglobin suddenly dropped from 13.4 g/dL (almost normal) to 5.4 g/dL (a crisis level). He received twelve units of blood on seven separate days over the course of three weeks, plus another two units after he was able to return to the States. This spurred my father to write to the Taoiseach (Irish Prime Minister), seeking recognition that he’d become a full-blooded Irishman &#8212; his Jewish heritage notwithstanding. (See his <a href="https://blog-api.23andme.com/wp-content/uploads/2011/03/Letter-to-Taoiseach-whiteout.pdf" target="_blank" rel="noopener noreferrer">letter to the Taoiseach</a>, <a href="https://blog-api.23andme.com/wp-content/uploads/2011/03/Letters-to-HLG-whiteout.pdf" target="_blank" rel="noopener noreferrer">correspondence from various offices</a> in the Irish government, and <a href="https://blog-api.23andme.com/wp-content/uploads/2011/03/Reply-from-Tanaiste-whiteout.pdf" target="_blank" rel="noopener noreferrer">the final verdict</a> from the Tanaiste).


While my father’s gift for humor has helped us all cope, we still have many unanswered questions stemming from his experience.   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 Community.
We are honored to welcome Drs. Jason Gotlib and James Zehnder from the Stanford University School of Medicine and Stanford Cancer Center, as expert advisors and research collaborators in this effort. Dr. Gotlib brings his experience in clinical hematology and leadership in numerous phase I/II trials of novel therapies for MPNs. Dr. Zehnder, Professor in the Division of Hematology and Department of Pathology, contributes expertise in the realm of MPN molecular diagnostics. Their complementary skill sets will be an asset to the 23andMe program and MPN research efforts.
W
atch the video below to learn more about my father’s story and help by joining our research community.
<iframe loading="lazy" title="Join 23andMe&#039;s Myeloproliferative Neoplasms Research Community" width="500" height="375" src="https://www.youtube.com/embed/r-Yjl73EJHw?feature=oembed" frameborder="0" allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share" referrerpolicy="strict-origin-when-cross-origin" allowfullscreen></iframe>
Please note: 23andMe filmed this video when we planned to launch a more narrowly focused Myelofibrosis Community. Based upon valuable input from our scientific advisory team, 23andMe has since decided to expand the scope of our community to include all myeloproliferative neoplasms, including myelofibrosis (primary, post-PV, and post-ET myelofibrosis), polycythemia vera (PV), essential thrombocythemia (ET), CML, mastocytosis, as well as hypereosinophilic syndrome (HES) and related eosinophil disorders. 


Our initial goal is to enroll approximately 1,000 patients diagnosed with a spectrum of myeloproliferative neoplasms who consent to participate in our research and who agree to complete surveys about their experiences. Patients will be asked to provide a sample of saliva (kits send to the patient&#8217;s address) to test their DNA for potential inherited predispositions to MPNs, and to assess whether the DNA results correlate with certain survey findings.  As our <a href="https://www.23andme.com/mpn/" target="_blank" rel="noopener noreferrer">MPN Community page</a>  describes in more detail, participants will receive complimentary access to 23andMe’s full Personal Genome Service ®. If you are someone who has been diagnosed with a myeloproliferative neoplasm, follow this link to learn more about joining our MPN Research Community and <a href="https://www.23andme.com/mpn" target="_blank" rel="noopener noreferrer">sign up</a>.
If you know someone who you think might meet the criteria, please share this information with them.
If you are not a patient with myelofibrosis or other MPN diagnosis, you can still help by <a href="https://www.23andme.com/store" target="_blank" rel="noopener noreferrer">becoming a 23andMe customer</a> and opting in to participate in our <a href="https://www.23andme.com/research" target="_blank" rel="noopener noreferrer">23andWe</a> research program. Having genetic information for generally healthy individuals plays an important role in research as well. Everyone has the opportunity to participate and support research that can lead to new treatments and possible cures.
  
(1) Mesa R, Silverstein M, Jacobson, Wollan P, Tefferi A.   Population-based incidence and survival figures in essential thrombocythemia and agnogenic myeloid metaplasia: an Olmsted county study, 1976-1995.
Gleevec ® is the trademark of Novartis Pharmaceuticals Corporation. 23andMe and Personal Genome Service are trademarks of 23andMe.

My Father, Myelofibrosis, and Me

Editor&#8217;s note: This post has been edited from its original to reflect changes in 23andMe&#8217;s product.
<img loading="lazy" decoding="async" class="alignright size-full wp-image-3114" title="bloodcells" src="https://blog-api.23andme.com/wp-content/uploads/2009/03/bloodcells.jpg" alt="" width="319" height="236" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/03/bloodcells.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2009/03/bloodcells-300x223.jpg 300w" sizes="auto, (max-width: 319px) 100vw, 319px" />
Sometimes you can have too much of a good thing.
Stem cells in your bone marrow are responsible for producing red and white blood cells and platelets.   But in cases of myeloproliferative neoplasm (MPN) the stem cells go overboard and begin producing too many of one type of cell.   There are several types of MPN — polycythemia vera, essential thrombocythemia and primary myelofibrosis.   While all are treatable, these conditions put the approximately 140,000 people in the United States who are affected at higher risk for blood clots and leukemia.
In 2005 researchers discovered that a mutation in the JAK2 gene, called V617F, is responsible for almost all cases of polycythemia vera and about half of all cases of essential thrombocythemia and primary myelofibrosis.   People are not born with this mutation, but instead develop it in their bone marrow cells sometime later in life.   Now, three new research reports show that while the JAK2 V617F mutation itself is not passed down from parent to child, there is an inherited genetic predisposition for developing this mutation and, therefore, MPN.   These findings, published online yesterday in the journal Nature Genetics, have implications not just for this collection of blood disorders, but for the way scientists think about the genetics of diverse types of cancer.
Three separate research groups (their papers can be found <a href="https://dx.doi.org/10.1038/ng.334" target="_blank" rel="noopener noreferrer">here</a>, <a href="https://dx.doi.org/10.1038/ng.341" target="_blank" rel="noopener noreferrer">here</a> and <a href="https://dx.doi.org/10.1038/ng.342" target="_blank" rel="noopener noreferrer">here</a>) found that, in people with European ancestry, the V617F mutation is more likely to occur in copies of the JAK2 gene that contain the C version of .   <a href="https://dx.doi.org/10.1038/ng.341" target="_blank" rel="noopener noreferrer">One of the studies</a> found that 80% of V617F mutations occur in the context of a C at this SNP.
Based on their findings, the researchers behind all three studies say that the odds of developing JAK2 V617F-positive MPN are increased in people with one or two Cs at .   Although the exact increase varied between studies, it appears that there are at least three times greater odds of the disease in people with the riskier version of the SNP.
The authors of all three studies suggest that the C version of may somehow make the JAK2 gene more susceptible to mutation.   It is also possible that the V617F mutation is equally likely to occur in all versions of the JAK2 gene, but something about the C version of causes the mutation to actually cause MPN.
Regardless of how is affecting the JAK2 gene, the authors of all three reports conclude that their results have important implications not just for understanding MPN.   They all suggest that many of the genetic variations that have been found to be associated with increased cancer risk may in fact be acting by increasing the odds of later-in-life mutations.

MPN — Page 2

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