&nbsp;



Most people have never heard of osteochondrodysplasia, glycogen storage disease, or a thousand other conditions with names we may or may not be able to pronounce. 



Each of these diseases is extremely rare individually. Some, like medium-chain acyl-CoA dehydrogenase deficiency, may affect about one person in 15,000. Still, other diseases may have only a few diagnosed patients—when a diagnosis can be made at all.



<h2 class="wp-block-heading" id="h-shared-struggle">Shared Struggle</h2>



Although their symptoms may be very different, people living with rare diseases often share similar struggles, searching for answers and receiving treatment. With so few affected individuals, awareness, funding, and research towards cures for rare diseases lag dramatically behind research on more common medical conditions.



The reality is that hundreds of millions of people worldwide are affected collectively by nearly 7,000 rare diseases, the vast majority lacking treatments. In the United States alone, it’s estimated that as many as one in 10 Americans suffers from a rare disease.



<figure class="wp-block-image alignright"><img loading="lazy" decoding="async" width="236" height="174" src="https://blog-api.23andme.com/wp-content/uploads/2011/02/globalgeneslogo.png" alt="Global Genes Project logo" class="wp-image-8519" title="globalgeneslogo"/></figure>







<h2 class="wp-block-heading" id="h-global-effort">Global Effort</h2>



<a href="http://www.rarediseaseday.org" target="_blank" rel="noopener noreferrer">Rare Disease Day</a> was launched to bring the health challenges of rare diseases to the global fore, and many events are taking place today to allow people to show their support for this cause. The Global Genes Project plays a crucial role in this effort, having signed up such groups as the National Society of Genetic Counselors, Pfizer, Medpedia, Illumina, various advocacy organizations, and many others.



In the United States, rare disease initiatives are starting to make progress. The National Organization for Rare Disorders (<a href="http://www.rarediseases.org/" target="_blank" rel="noopener noreferrer">NORD</a>), which offers numerous resources for rare disease research and advocacy, has helped to create a congressional forum dedicated to rare diseases. 



The National Institutes of Health also has an <a href="http://rarediseases.info.nih.gov/" target="_blank" rel="noopener noreferrer">Office of Rare Diseases Research</a> to aid scientists and others interested in obtaining research funding or information on rare diseases. And online tools and social media are helping individuals to build robust support networks. At websites like <a href="http://inspire.com" target="_blank" rel="noopener noreferrer">Inspire</a> and <a href="http://www.patientslikeme.com" target="_blank" rel="noopener noreferrer">PatientsLikeMe</a>, people can share their stories, connect to the latest news and research, and learn from others with similar experiences.



<h2 class="wp-block-heading" id="h-personal-stories">Personal Stories</h2>



A common theme in stories told by people with rare diseases is a desire for information. One of 23andMe’s core goals is to empower individuals through access to their genetic data.  Most rare diseases are caused by alterations in a person’s genetic make-up &#8212; usually inherited, but sometimes unique to that individual.  We are learning more daily about the genetic factors involved in personal health and believe genetic information will only become more valuable over time.



23andMe also recognizes the importance of supporting research for rare diseases and is committed to applying our unique, participant-driven research platform to further knowledge about these diseases and potential treatments. We launched a  <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener noreferrer">Sarcoma</a> research community last year, and patients affected by sarcoma can join this initiative to take an active role in research. Customers without a rare disease can <a href="https://www.23andme.com/research" target="_blank" rel="noopener noreferrer">contribute to research </a>as well. We plan to expand our efforts to additional rare diseases in the future.



As Joyce Graff of the von Hippel-Lindau Family Alliance <a href="http://www.inspire.com/static/inspire/reports/inspire-rare-disease-day-report-2011.pdf" target="_blank" rel="noopener noreferrer">puts it</a>, “While each disease is rare, the experience of having a rare disease is not rare.” Show your support for the millions of people affected by rare diseases and <a href="http://www.rarediseaseday.org/article/get-involved" target="_blank" rel="noopener noreferrer">learn more</a> about ways to get involved.

23andMe Blog

23andMe Blog Team

Help Fight Rare Disease

Leading Personal Genomics Company Engages the Worldwide Sarcoma Community for Research and Welcomes Leading Sarcoma Researchers and Clinicians as Advisors
<img loading="lazy" decoding="async" class="alignright size-full wp-image-6398" title="sarcoma-large" src="https://blog-api.23andme.com/wp-content/uploads/2010/04/sarcoma-large1.jpg" alt="" width="315" height="257" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/04/sarcoma-large1.jpg 315w, https://blogcms.23andme.com/wp-content/uploads/2010/04/sarcoma-large1-300x245.jpg 300w" sizes="auto, (max-width: 315px) 100vw, 315px" />
23andMe’s sarcoma research efforts are well underway with collection of both phenotypic and genetic data from 500 individuals diagnosed with sarcoma already completed. The company is half way towards its goal of building a sarcoma research community of more than 1,000 individuals. 23andMe has also completed its Independent Sarcoma Scientific Advisory Committee with the appointment of leading researchers and clinicians, including Robert Maki, MD, PhD, George Demetri, MD, Judy Garber, MD, MPH, and Mark Robson, MD.
“Members of our independent, external Sarcoma Advisory Committee bring unsurpassed expertise of sarcoma and cancer genetics to our research efforts,” said Anne Wojcicki, 23andMe co-founder and CEO. “We are confident that together, we will meaningfully advance our current understanding of sarcomas.”
Sarcomas are a rare group of cancers that arise in connective tissues (such as muscle, fat, cartilage, tendons and blood vessels) or in bone. It is estimated that there are approximately 13,000 cases of Sarcoma seen annually in the United States. This is an extremely small number compared to the total of more than 1.4 million people who are diagnosed with cancer each year in the United States. The small number of cases seen, the diversity in the biology of each type of sarcoma, and other variables make identifying and understanding causes of Sarcomas particularly difficult.
23andMe’s Sarcoma research efforts first began in April 2010, inviting current and former sarcoma patients to participate by being genotyped and completing surveys about their disease and treatment response through the 23andMe web-based research platform, under approval from an Institutional Review Board (IRB). Participants receive access to the full 23andMe experience, including information about their genetic ancestry as well as access to all 184 health and trait reports at no charge.
As 23andMe collects information regarding these individuals’ experience, environment and response to different therapies, it is anticipated that 23andMe will be able to combine this information with genetic data to find patterns that will help researchers better understand the biology of sarcoma and the impact of various treatments.
&#8220;We have already enrolled more than 500 individuals diagnosed with Sarcoma, passing the 50-percent milestone in our goal of building a sarcoma community of at least 1,000 individuals. Through our research platform, we are gathering valuable information about sarcoma and response to treatment from these individuals,” explained Amy Kiefer, 23andMe, Survey Research Manager, PhD.
“This collaborative project is highly innovative, linking sophisticated genomic analyses with patient-reported outcomes and clinical data in people who have had sarcoma at some point in their lives. It is a novel, multidimensional approach to understanding these complex diseases with a mixture of science, medicine and social media,” said George Demetri, MD, Director of the Center for Sarcoma and Bone Oncology at Dana Farber Cancer Institute and Sarcoma Scientific Advisor to 23andMe. “The members of the Sarcoma Scientific Advisory Committee are enthusiastic to advise 23andme to ensure the highest quality data can be generated through this interactive process which brings together current sarcoma patients, long-term survivors of sarcomas, physicians and scientists of several different specialties.“
For more information, or to inquire about joining 23andMe’s Sarcoma community please go to <a href="https://www.23andme.com/sarcoma">https://www.23andme.com/sarcoma</a>.
About 23andMe’s Sarcoma Scientific Advisory Committee
The committee is comprised of independent, external academic advisors, including:
Robert Maki, MD, PhD, is a renowned Sarcoma clinician and researcher. Already a 23andMe advisor, Dr. Maki recently joined The Mount Sinai Medical Center as the Chief of the Pediatric Hematology/Oncology Division, and is also Medical Director of the Sarcoma Cancer Program at The Tisch Cancer Institute.
George D. Demetri, MD, has led the development of several practice-changing clinical research trials for sarcoma and serves as the Director of the Center for Sarcoma and Bone Oncology at Dana Farber Cancer Institute, as well as Director of the Ludwig Center at Dana-Farber/Harvard Cancer Center, and Senior Vice President for Experimental Therapeutics at Dana-Farber Cancer Institute in Boston.
Judy E. Garber, MD, MPH, is the Director of the Center for Cancer Genetics and Prevention at Dana-Farber Cancer Institute and an associate professor of Medicine at Harvard Medical School.
Mark E. Robson, MD, is the Associate Attending Physician of the Clinical Genetics and Breast Cancer Medicine Services at Memorial Sloan-Kettering Cancer Center.
View the official <a href="https://www.23andme.com/about/press/20110125/">press release</a>.

23andMe Achieves Milestone in Building Sarcoma Research Community

<img loading="lazy" decoding="async" class="alignright size-full wp-image-7636" title="PMWC-logo" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/PMWC-logo.png" alt="" width="333" height="125" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/PMWC-logo.png 333w, https://blogcms.23andme.com/wp-content/uploads/2010/10/PMWC-logo-300x113.png 300w" sizes="auto, (max-width: 333px) 100vw, 333px" />
More than 800 people packed the auditorium in Silicon Valley’s Computer History Museum for two days this week listening to the impassioned words of the greatest thinkers, movers, and shakers in personalized medicine. It’s a topic that’s easy to get behind &#8212; who doesn’t think that medical care tailored to the individual will result in better care for that individual? &#8212; but it’s been a long, hard road, and not for lack of effort. Making personalized medicine the standard of care will require investment and cooperation from healthcare providers, technology innovators, researchers, policy makers, regulatory agencies, entrepreneurs &#8212; and each of us, healthy and otherwise. The <a href="http://www.pmwc2011.com">2011 Personalized Medicine World Conference</a> certainly played its part, bringing people together from all of these areas for important, eye-opening discussions. 
 
From sessions covering cancer, new business models, regulatory issues, and personal wellness to expert panels looking broadly towards the future of personalized medicine, the conference had a little something for everyone. Some common threads emerged, however: the falling cost of sequencing and other technologies, the rising need for interpretation and tools, and the unsettling disconnect between resources spent on healthcare (or innovation) in the U.S. and treatment outcomes. The vision for personalized medicine is, as <a href="http://www.pmwc2011.com/speakers.php#snyderman">Ralph Snyder</a> of Duke University explained in his opening keynote, &#8220;science serving humanity, one person at a time,&#8221; but we&#8217;re not quite there yet. &nbsp;<a href="http://www.pmwc2011.com/speakers.php#scott">Randy Scott</a> of Genomic Health put the inefficiency of current healthcare systems in stark relief when he said, “we spend billions of dollars every year treating diseases we don’t understand &#8212; poorly.”
<a href="http://www.pmwc2011.com/speakers.php#aspinall">Mara Aspinall</a>, CEO of On-Q-ity, laid down another heavy statistic: drugs work only 50% of the time, and for cancer they only work 22% of the time. This waste has a dollar cost, she continued, but more importantly, a human cost. The field has its skeptics, too, but as <a href="http://www.pmwc2011.com/speakers.php#church">George Church</a> pointed out, the emerging personalized medicine industry won’t be perfect; rather, it will improve iteratively, just like the first televisions, cars, and computers. Church draws additional parallels between personalized medicine and computers, noting that the computing industry didn’t anticipate the power of personal computing &#8212; will personal genomics be similarly underestimated?
Speaking more practically, <a href="http://www.pmwc2011.com/speakers.php#hudson">Kathy Hudson</a> (NIH) put forth the idea of “pilot clinics” that would serve as the testing grounds for new systems and technologies in personalized medicine and pioneer the new standards of care. Lee Hood [http://www.pmwc2011.com/speakers.php#hood], the champion of “P4 medicine” (Predictive, Preventative, Personalized, and Participatory), stressed the need for improved communication, IT infrastructure, and education for both patients and physicians. Attendees also heard arguments for employer-centric as well as payer-centric models of personalized medicine adoption from Vance Vanier, CEO of Navigenics, and <a href="http://www.pmwc2011.com/speakers.php#leisure">Larry Leisure</a> of AccelusHealth Partners.
So after all this, what will be the future of personalized medicine? The most popular panel of the conference posed exactly this question to several giants in the field. Lee Hood painted a future where every individual produces billions of data points over time for the purposes of “wellness” monitoring. George Church took this one step further, saying that everyone would be sequenced (there’s a billion data points right there!) and we’d all have personalized health regimens from birth. For <a href="http://www.pmwc2011.com/speakers.php#byers">Brook Byers</a>, the future is all about networks, from microscopic biological networks affecting disease to social networks affecting healthcare. And in the 2020 that Kathy Hudson envisions, we will all be participating in research, we will all be excited about it, and we will all know what that research means.
As our very own <a href="http://www.pmwc2011.com/speakers.php#wojcicki">Anne Wocjicki</a> noted in her talk Tuesday afternoon, only 5% of people have ever participated in a research study or clinical trial, but every single one of us is an interesting data point and a potential contributor to important scientific discoveries. With 23andMe’s commitment to genetic research and our unique <a href="https://www.23andme.com/research">participant-driven research platform</a>, we hope you’ll agree that, together, we can make that exciting and not-so-distant future happen.
Many thanks to all of the organizers, sponsors, speakers, exhibitors, and attendees for making PMWC 2011 a great success!
Visit the PMWC 2011 website to see the entire conference <a href="http://www.pmwc2011.com/program.php">program</a> and <a href="http://www.pmwc2011.com/speakers.php">list of speakers</a>. To read more about the talks and discussions from PMWC 2011, check out this collection of thoughts on <a href="https://twitter.com/#!/search/pmwc">Twitter</a>.

PMWC 2011 Delivers on Personalized Medicine

<img loading="lazy" decoding="async" class="aligncenter wp-image-8348 size-full" title="2010 2011 sign" src="http://35.88.189.111/wp-content/uploads/2011/01/iStock_000013130604XSmall.jpg" alt="" width="425" height="282" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/01/iStock_000013130604XSmall.jpg 425w, https://blogcms.23andme.com/wp-content/uploads/2011/01/iStock_000013130604XSmall-300x199.jpg 300w" sizes="auto, (max-width: 425px) 100vw, 425px" />
2010 was a big year in more ways than one! Research uncovered more genetic variants associated with common diseases, fascinating portraits of our early ancestors, and new insights into the genetic diversity of modern populations. And on top of all that, 23andMe published its first research discoveries, validating our revolutionary new web-based research platform and paving the way for our first federally funded grant, focused on the genetics of drug response.
Although there were dozens of important developments in the fields of genetics and genomics in 2010, a subset of them stood out to us.
<h6>1. Genetics influences whether your body shape is &#8220;apple&#8221; or &#8220;pear&#8221; &#8212; and which shape you are has implications for disease.</h6>
<img decoding="async" class="alignright size-thumbnail wp-image-7570" title="Pear and apple representing the overload" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/apples-and-pears3-150x150.jpg" alt="" width="85" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/apples-and-pears3-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2010/10/apples-and-pears3-271x271.jpg 271w" sizes="(max-width: 150px) 100vw, 150px" />
In October, SNPwatch covered a report by the GIANT consortium which identified about a dozen new SNP associations with body fat distribution. They also found that the SNPs play a more significant role in determining body fat distribution in women than in men, and that these SNPs were mostly distinct from SNPs associated with BMI.
<h6>2. Genetic variations newly associated with risk for childhood asthma.</h6>
<img decoding="async" class="alignright size-thumbnail wp-image-5814" title="iStock_000003241516XSmall" src="https://blog-api.23andme.com/wp-content/uploads/2010/01/iStock_000003241516XSmall-150x150.jpg" alt="" width="85" 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" />
New discoveries in asthma capped off the beginning and end of 2010, with two studies revealing variants associated with childhood asthma. The first study, published in January, it observed that the same SNP had different effects in children with different ethnic backgrounds. The second study, published in September, also examined genetic associations for allergy susceptibility, and found there was very little overlap with asthma, suggesting that allergy sensitivity may be an effect of asthma rather than its cause.
<h6>3. New variants influence risk for rheumatoid arthritis. 
</h6>
<img decoding="async" class="alignright size-thumbnail wp-image-5318" title="08D-5313-0" src="https://blog-api.23andme.com/wp-content/uploads/2009/11/arthritishands-150x150.jpg" alt="" width="85" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/11/arthritishands-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2009/11/arthritishands-271x271.jpg 271w" sizes="(max-width: 150px) 100vw, 150px" />
Like many other autoimmune diseases, rheumatoid arthritis is complex and influenced by many genetic and environmental factors. In May, the Blog covered a pair of studies that identified an association between a variant near the CCR6 gene and rheumatoid arthritis in both Asian and European populations. One of the studies, led by a team at the RIKEN Center for Genomic Medicine in Japan, also showed that the different versions of the variant affected the behavior of the nearby CCR6 gene, providing a potential biological explanation for the variant&#8217;s contribution to rheumatoid arthritis risk.
<h6>4. Understanding Alzheimer&#8217;s disease.</h6>
<img decoding="async" class="alignright size-thumbnail wp-image-1902" title="alzheimers" src="https://blog-api.23andme.com/wp-content/uploads/2008/11/alzheimers-150x150.jpg" alt="" width="85" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/11/alzheimers-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2008/11/alzheimers-271x271.jpg 271w" sizes="(max-width: 150px) 100vw, 150px" />
Until very recently, APOE e4 was the only genetic variant conclusively shown to be associated with risk for the more common late-onset form of Alzheimer&#8217;s. This past  spring, researchers added to the growing list of common variants that seem to affect Alzheimer&#8217;s disease risk in European populations. Compared to APOE e4, these variants have fairly small effects, but the findings suggest additional avenues for research into the biological underpinnings of the disease.
<h6>5. One size doesn&#8217;t fit all &#8212; personalizing treatment.</h6>
<img decoding="async" class="alignright size-thumbnail wp-image-7919" title="pills" src="https://blog-api.23andme.com/wp-content/uploads/2010/11/pills-150x150.png" alt="" width="85" />
One of the first areas in which personalized medicine will have an impact is in tailoring a patient&#8217;s treatment regimen based on individual genetics. In January, the FDA updated the labeling information for warfarin, a common blood thinning medication, to include initial dosing recommendations based on certain genetic variants, and in the summer, the Blog published a <a href="https://blog.23andme.com/2010/08/17/pharmacogenetics-the-long-road-from-bench-to-bedside/">perspective</a> on the history of pharmacogenetics. And, 23andMe will be contributing to our understanding of pharmacogenetics through our first NIH-funded study.
<h6>6. No clue yet to how long Geri-Boomers can expect to live. 
</h6>
<img decoding="async" class="alignright size-thumbnail wp-image-5593" title="longevity-blog-post-pic" src="https://blog-api.23andme.com/wp-content/uploads/2009/12/longevity-blog-post-pic-150x150.gif" alt="" width="85" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/12/longevity-blog-post-pic-150x150.gif 150w, https://blogcms.23andme.com/wp-content/uploads/2009/12/longevity-blog-post-pic-271x271.gif 271w" sizes="(max-width: 150px) 100vw, 150px" />
A genome-wide association study of extreme longevity accompanied by a highly predictive model based on 150 SNPs caused quite a splash when it was published in Science last July. But many in the scientific community were skeptical.
<h6>7. Baby&#8217;s first tooth may be a health predictor.</h6>
<img decoding="async" class="alignright size-thumbnail wp-image-6082" title="iStock_000004774463XSmall" src="https://blog-api.23andme.com/wp-content/uploads/2010/03/iStock_000004774463XSmall-150x150.jpg" alt="" width="85" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/03/iStock_000004774463XSmall-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2010/03/iStock_000004774463XSmall-271x271.jpg 271w" sizes="(max-width: 150px) 100vw, 150px" />
Your teeth say a lot about your health, as any dentist might tell you. And it turns out that the same genetic and biological processes that go into forming your baby teeth may also be important for many other health conditions. In March, we discussed a study that identified genetic variants associated with the timing of a baby&#8217;s first tooth and the number of teeth at age one.
<h6>8. Before you call that relative a &#8220;Neanderthal,&#8221; some more of what we&#8217;ve learned about our distant past. 
</h6>
<img decoding="async" class="alignright size-thumbnail wp-image-5968" title="inuk" src="https://blog-api.23andme.com/wp-content/uploads/2010/02/inuk-150x150.jpg" alt="" width="85" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/02/inuk-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2010/02/inuk-271x271.jpg 271w" sizes="(max-width: 150px) 100vw, 150px" />
The sequencing of the Neanderthal genome showed us that humans and Neanderthals maybe more similar than we thought, and may even have interbred, leaving detectable remnants of Neanderthal DNA in our modern genomes. Sequencing of another genome, that of a man from the Saqqaq culture who walked the earth about 4,000 years ago, allowed another group of researchers to <a href="https://blog.23andme.com/2010/02/10/researchers-use-snp-analysis-to-paint-picture-of-an-ancient-human/">piece together a portrait</a> of what this ancient human may have been like, including traits like eye and hair color, blood type, BMI, and baldness.
<h6>9. A fresh look at Latino genetic ancestry.</h6>
<img decoding="async" class="alignright size-thumbnail wp-image-6500" title="latino_faces" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/latino_faces-150x150.jpg" alt="" width="85" />
Latino populations are known for their diversity, but does this hold for genetics, as well? A 2010 study compared DNA from 100 individuals with ancestry from four different Latino populations to get a sense for the extent of their genetic diversity. The study found significant differences in source ancestry between these populations, a fact that has implications for medical genetic research.
<h6>10. Web-based research works! 
</h6>
<img decoding="async" class="alignright size-full wp-image-2397" title="23andwe3" src="https://blog-api.23andme.com/wp-content/uploads/2008/12/23andwe3.jpg" alt="" width="100" />
23andMe made many strides forward in 2010: we published our first peer-reviewed paper with results of our web-based research platform, we announced preliminary results and plans for a number of other ongoing studies, we launched a new Sarcoma community, and we received our first NIH-funded grant to study the genetics of drug response. In 2011, we will continue to work together with our participants to advance the 23andWe research paradigm and learn more about the information encoded in our genomes.

Our Top Ten for 2010

The 3rd annual <a href="http://pmwc2011.com">Personalized Medicine World Conference</a> is less than one week away, so we thought we&#8217;d share a few more of our favorite <a href="https://blog.23andme.com/2011/01/06/readers-wax-poetic-pmwc-ticket-contest-winners/">poetry contest</a> entries.
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-8272" style="margin-top: 10px;" title="Handwriting,ink and quill pen" src="https://blog-api.23andme.com/wp-content/uploads/2010/12/feather-ink-writing-300x199.jpg" alt="" width="300" height="199" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/12/feather-ink-writing-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/12/feather-ink-writing.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Double Dactyl for a Double Helix 
by Mark Cackler
SNPity, SNPity, 
Personalized medicine 
Looks at our DNA; 
Tells us our traits.
Multimendelian 
Phenotype research can 
Give us our haplogroup 
If not our mates.
The Small Things 
by Roopa Ramamoorthi
I observe the almond eyes in the mirror 
the phenotype I inherited from my mother 
the chubby cheeks–I study the similarity 
to my grandmother and 
descend into my ancestry, imagine those same chubby cheeks 
in the faded black and white photo 
of my great-great-great grandfather 
head wrapped in white turban 
a high court judge
Another photo again in black and white 
same cheeks, a solemn smile 
My great-grandmother fingering 
violin and bow 
What I do not see are the SNP’s 
base changes in certain genes–her genotype 
Or was it the epigenome, those tiny methyl tags 
that made her die of diabetes 
when my grandmother was only eight 
before Banting and Best’s breakthrough of insulin 
was available in India
A family inheritance not of fortune 
but diabetes descending to my grandmother and mother 
Now crossing forty as I tremble to see 
a high triglyceride profile–wonder how long 
I can ward this off–
Those small things that matter most 
Maybe the ten things about you I needed to know mother 
were not details about your youth and childhood 
like your favorite novel as a teenager 
or your being best at badminton 
but the ten SNP’s and tags on your chromosomes 
That may have travelled to me 
Making me vulnerable 
like you
The First Generation 
 by Lisa Friedman
Ancestry.
A gene travels through time, 
Hundreds and hundreds of years, 
Parent to child, parent to child, 
Direct to me.
So many women and men 
Along this long line 
Had cancer, 
Breast and ovarian; 
Prostate, pancreatic, or melanoma. 
So many died young.
One small change in DNA, 
Chromosome 17, my BRCA 1 gene, 
5385InsC.
I learned the risk to my health and 
An MRI showed I already had cancer. 
I found my tumor early, 
Long before I would have known to look.
90% of cancer caught early is curable. 
I ask my oncologist 
What curable means. 
She says, 
Curable means 
We can make cancer go away 
And stay away.
A dangerous gene travels through time, 
Parent to child, parent to child, 
For hundreds and hundreds of years. 
I live in the first generation to know.
Thank you 23andMe.

Mark Cackler

Warm-up to PMWC: More Poetry

<img loading="lazy" decoding="async" class="alignright size-full wp-image-7636" title="PMWC-logo" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/PMWC-logo.png" alt="" width="333" height="125" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/PMWC-logo.png 333w, https://blogcms.23andme.com/wp-content/uploads/2010/10/PMWC-logo-300x113.png 300w" sizes="auto, (max-width: 333px) 100vw, 333px" />
In the last few weeks of 2010, readers had the opportunity to flex their creative muscles and <a href="https://blog.23andme.com/2010/12/22/are-you-a-poet-let-us-know-it-and-win-a-prize/">submit a poem for a chance to win</a> free admission to the 3rd annual <a href="http://pmwc2011.com">Personalized Medicine World Conference</a> taking place in Silicon Valley January 18-19, 2011. We received many wonderful entries spanning a wide variety of poetic styles, making the job of our nine judges a challenge, but five poems made the final cut, rewarding their authors with free passes to the conference.
Judges ranked their top five favorite entries; all first-ranked choices received five points, second-ranked choices received four points, on down to the fifth-ranked choices which received one point each. The five entries with the highest point totals were deemed the winners.
Not surprisingly, poetry is very much a matter of personal taste, as not a single poem made it onto every judge&#8217;s short list, and the two poems that received far and away the highest overall scores only made it onto the short list of five judges (but those judges clearly loved them). Many poems were favorites of individual judges, but unfortunately received too few overall points to break into the top five.
We&#8217;d like to congratulate all of the winners and extend our appreciation to everyone who participated &#8212; who knew genetics could be so poetic?
Here are the five winning entries, in no particular order:

A SNPs Poem To His Love 
by Johan Sosa
My love, you&#8217;re just my phenotype 
I don&#8217;t care dear about your genotype 
My DNA&#8217;s under pressure for romance 
Darling I have no Family Inheritance 
But honey my ancestry&#8217;s wealth is health 
So let&#8217;s pair up our chromosomes and bind
Untitled 
by Oana Carja
I used to think in terms of integrals, 
Banach spaces and martingales 
Then I met genetics 
With its mysteries and poetics 
Now, I think in terms of ancestry 
Chromosomes and 23andMe 
Haplogroups and GWAS studies, 
Are now my late-night buddies (!! 🙂 ) 
Epigenetics fascinates me 
And will (hopefully) get me a PhD.
The Haplogroup Not Taken 
by Robin Goldstein (with deepest apologies to Robert Frost)
Two SNPs diverged in a Chromosome 
and wonder I the meaning thus 
A lifelong need for brush and comb 
or sullen gaze at polished dome; 
The benefit, a lack of morning fuss.
And so I spit into a tube 
and learned of things like Phenotype 
and Gregor&#8217;s bees, though I a rube 
more like to solve a Rubik&#8217;s cube 
Or chat with Stanford doctors using Skype.
Now &#8220;The waiting is the hardest part&#8221; 
Tom Petty sang (left-handedly) 
And &#8220;Cogito Ergo Sum&#8221;, said Decartes 
Though philosophy cannot impart 
That smell of asparagus to my pee.
I shall be blogging this with a sigh 
To cousins 2 and 4, first, fifth and 3 
Two SNPs diverged in my genes and I 
Intent to learn the reasons why 
Now wait results from 23andMe
Chromosome Language 
by Lev Shaket
Listen, I’m a chromosome poet, 
wielding words with the finesse of GWAS 
studying the SNPs in my genome with the speed of an Ion Torrent. 
Big up to Mendel, me and him homies since his Moravian moments. 
Feeling like a disciple of science, utilizing the finest appliance 
to trace my DNA to the bones of Octavian Romans.
C, we don’t need A pen, just polymerase and four bases, to rewrite a story for patients in a base four language. 
And with algorithmic precision and a trained statistician, we can master sequencing pieces like a painting by Titian. 
Armed with drugs corresponding to our own variations, we can enhance our own health and bring disease to the basics. 
And let’s not forget that in a matter of days, we can pinpoint the source of an outbreak for Haitians.
Yet one question remains for the strictly poetic: 
Is talent developed or is it genetic? 
Is it what one inherits, or does one earn it through merit? 
Whatever the answer, one thing is apparent&#8211; 
what we define as aesthetic envelops the basis 
of this un-replicated chromosome language.
A Farsical Tragic Genetic Love Poem 
by Zach Charlop-Powers
My dear Rosalie, alas, its not to be 
not fifth but only first cousins are we 
unrequited my love, I&#8217;ll pine at the moon 
if only I had not sent my spit to Blog 
if only we had not seen 23andMe 
if only, my love, we&#8217;d forsake our ancestry 
not worried about our shared haplotypes, 
or our SNP inheritance, only love at first site 
who cares for genomics when it destroys our love 
who says our children would be genetic bums!??@! 
I suppose my dear Rosie you&#8217;ve found someone new 
who shares not my proclivity for SNP-A or Type 2 
I suppose my dear Rosie you&#8217;re no longer alone 
you&#8217;ve found someone with no sneeze reflex nor gallstones 
or risk factor to congenital blinking and blindness 
who forgets anniverseries; the very picture of kindness 
perhaps he is handsome and tall and not even related 
perhaps you are walking with him now, on the beach, elated 
alas my dear Rosie it was not to be 
you saw the sad truth and the sad truth was me.

Johan Sosa

Readers Wax Poetic: PMWC Ticket Contest Winners

<img decoding="async" class="alignright size-full wp-image-8272" title="Handwriting,ink and quill pen" src="https://blog-api.23andme.com/wp-content/uploads/2010/12/feather-ink-writing.jpg" alt="" width="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/12/feather-ink-writing.jpg 425w, https://blogcms.23andme.com/wp-content/uploads/2010/12/feather-ink-writing-300x199.jpg 300w" sizes="(max-width: 425px) 100vw, 425px" />
Passionate about personalized medicine? Fascinated by new technologies? The 3rd annual acclaimed <a href="http://www.pmwc2011.com">Personalized Medicine World Conference</a> is just around the corner, and YOU could win a free pass!
23andMe, a bronze-level sponsor of the conference, will be awarding five (5) complimentary admissions to attend this conference to our loyal &#8212; and most poetic &#8212; readers! Simply submit an original poem to <a href="mailto:poetryforticketcontest@23andme.com">poetryforticketcontest@23andme.com</a> to enter the contest.*
The poem can be any length and any style, but must use at least five words or phrases from the list below to be eligible. You may submit as many poems as you like. Poems will be evaluated based on creativity and overall appeal by a panel of judges with questionable taste, none of whom will have had previous experience judging poetry contests. (View the Official Rules.)
<img decoding="async" class="alignright size-full wp-image-7636" title="PMWC-logo" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/PMWC-logo.png" alt="" width="315" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/PMWC-logo.png 333w, https://blogcms.23andme.com/wp-content/uploads/2010/10/PMWC-logo-300x113.png 300w" sizes="(max-width: 333px) 100vw, 333px" />
Entries will be accepted until 11:59PM PST on December 31, 2010 and winners will be notified shortly thereafter.
PMWC 2011 will be held January 18-19, 2011 in the heart of Silicon Valley at the Computer History Museum in Mountain View, CA. Learn more about PMWC 2011 <a href="http://www.pmwc2011.com">here</a>.
Please include at least 5 of the following in your poem:
<table style="padding: 10px; font-style: italic;">
<tbody>
<tr>
<td width="20%">23andMe 
ancestry 
health 
5th cousin 
GWAS 
chromosome 
DNA 
genotype 
phenotype 
Mendelian 
blog 
haplogroup</td>
<td width="80%">personalized medicine 
pharmacogenomics 
SNP (or, single nucleotide polymorphism) 
IBD (or, identical-by-descent) 
The name of any other PMWC 2011 host, sponsor, or partner (not 23andMe) 
The name of any 23andMe Health report (e.g. &#8220;Photic Sneeze Reflex&#8221; or &#8220;Gallstones&#8221;) 
The name of any 23andMe feature (e.g. &#8220;Ancestry Painting&#8221;, &#8220;Browse Raw Data&#8221;, or &#8220;Family Inheritance&#8221;) 
The name of any 23andWe research survey (e.g. &#8220;Ten Things About You&#8221;, &#8220;Ocular Dominance&#8221;, or &#8220;Under Pressure&#8221;)</td>
</tr>
</tbody>
</table>
So find your muse, flex those creative muscles, and send us your most poetic genetic thoughts for a chance to win a free pass to PMWC 2011!
* If you know that you cannot attend PMWC 2011, we ask that you refrain from submitting a poem, unless you clearly indicate that your entry is not to be included among those competing for a prize.
NO PURCHASE OR OBLIGATION NECESSARY TO ENTER OR WIN. VOID WHERE PROHIBITED. Open to legal residents of the U.S., age 18 or older who have an active email account and Internet access. Employees of 23andMe and its affiliates, and their immediate family members and persons living in their same household, are not eligible. To enter, submit your entry by 11:59PM PST on December 31, 2010 to <a href="mailto:poetryforticketcontest@23andme.com">poetryforticketcontest@23andme.com</a>. No limit on entries per person. Each of the five (5) winners will receive one discount code for a complimentary pass to attend the Personalized Medicine Conference on January 18-19, 2011 in Mountain View, California. Winner is solely responsible for any and all taxes that apply. Winner is solely responsible for transportation, lodging, and any other arrangements needed to attend the conference. Complete rules are available here: https://www.23andme.com/pmwc_poetry_contest_official_rules/.

Are You A Poet? Let Us Know It (and Win a Prize)!

<img loading="lazy" decoding="async" title="logopng" src="https://blog-api.23andme.com/wp-content/uploads/2008/01/logopng.png" alt="" width="155" height="109"><img decoding="async" class="alignright size-full wp-image-7952" title="health_caduceus" src="https://blog-api.23andme.com/wp-content/uploads/2010/11/health_caduceus.png" alt="" height="120"><img loading="lazy" decoding="async" class="alignright size-full wp-image-7953" title="ancestry_tree" src="https://blog-api.23andme.com/wp-content/uploads/2010/11/ancestry_tree.png" alt="" width="64" height="120">
The holidays just got a bit happier. Our holiday sale price of $99 plus a 12-month subscription to our Personal Genome Service for just $5 per month will now be available through Christmas day (12/25/2010). Be sure to <a href="https://www.23andme.com/store">place your order</a> by Wednesday, December 15th if you want to receive your DNA testing kits in time for holiday gift-giving!
For questions, please see answers to frequently asked questions about our Personal Genome Service, or <a href="mailto:help@23andme.com">contact</a> our customer service team.

Holiday Sale Extended Through Christmas!

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<img loading="lazy" decoding="async" class="alignright size-medium wp-image-7897" src="https://blog-api.23andme.com/wp-content/uploads/2010/11/misha-angrist-cover1-196x300.jpg" alt="" width="196" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/11/misha-angrist-cover1-196x300.jpg 196w, https://blogcms.23andme.com/wp-content/uploads/2010/11/misha-angrist-cover1.jpg 415w" sizes="auto, (max-width: 196px) 100vw, 196px" />
Even as a curious scientist and a 23andMe employee, I hesitated before opening my genetic test results and wondered&#8230;Do I really want to know?</div>
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<div><a title="Misha Angrist" href="http://www.genome.duke.edu/people/faculty/angrist/" target="_blank" rel="noopener">Misha Angrist</a> asks himself a similar question in his new book, Here is a Human Being. Then again, he had a really good reason to give pause.
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As subject number four of the <a title="PGP" href="http://www.personalgenomes.org/" target="_blank" rel="noopener">Personal Genome Project</a> (PGP), Dr. Angrist consented to make his genome sequence and medical history completely open and accessible to the public. Why would anyone do that?</div>
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<div>It’s a question that many others have already asked and that Angrist attempts to answer throughout his genomic journey in the book. In short, he “thought the PGP might actually help make a difference.”
George Church, a Harvard University molecular geneticist and member of the 23andMe Scientific Advisory Board, started the PGP with a goal to make personal genome sequencing “more affordable, accessible, and useful for humankind.” To facilitate this goal, Dr. Church required each of the ten original volunteers to post genotype and phenotype information online for anyone to access.</div>
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<div>Angrist reports that the availability of information would enable individuals to better explore the relationship between genes and medical records or non-medical traits and serve as a social experiment about what privacy compromises might ensue. Considering the risk and uncertainty these PGP participants faced, my hesitation over my private results seemed a bit trifling in comparison.
Misha Angrist reasons that “unless we get hit by a bus or succumb to an infectious disease, eventually almost all of us are going to be the numerator, the ‘one in’ something &#8212; cancer, heart disease, diabetes, Alzheimers.”</div>
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<div>While at first this viewpoint might seem slightly morbid, after it settles it is simply logical and realistic. After all, there is no such thing as a “perfect” genome.</div>
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<div>Angrist believes that “[o]ne of the promises of personal genomics is that it will tell us exactly what we are at risk of becoming the numerator for.”</div>
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<div>In other words, personal genomics will provide individuals with a certain level of knowledge that will enable them to take a more active role in their medical care and a more directed path for disease prevention. At the end of the day, genetic test reports are not deterministic but are instead pieces of the data puzzle that make us who we are, including our vulnerabilities and imperfections.</div>
<div>Similar to Angrist, 23andMe believes that individuals have a right to know their genetic makeup and we hope that access to this data will inspire and empower individuals to take more control of their health management.
Although the successful PGP sequencing of his whole genome is repeatedly delayed throughout the book, Angrist slowly builds his genetic profile through various alternative efforts.</div>
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<div>Here is a Human Being chronicles Angrist’s mental process of anxiety, knowledge, and acceptance as he reveals excerpts from his many genomic reports. At the beginning of his journey, Misha Angrist writes from the perspective of a researcher eager to play subject in an influential study. However, throughout the book, Angrist transforms from objective scientist to someone with a personal investment in the outcome. Even Angrist himself was a bit surprised by his initial uneasiness when he first encountered his personal data.</div>
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<div>Some, but not all, 23andMe customers may experience this “moment of hesitation” before unlocking their genetic vaults, but anecdotal reports tell us that most individuals receive the information rather well.</div>
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<div>In Angrist’s case, he found his genetic data to be “a convenient excuse to begin to get [his] cardiovascular act together.”
While 23andMe customers do not have to ponder the broad sharing implications of the PGP, many of the topics woven throughout Angrist’s genomic quest are relevant to the direct-to-consumer space.</div>
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<div>Some of the highlights include discussions of work by neurologist Robert Green from Boston University who studied individuals’ reactions to knowledge of their genetic risk for Alzheimer’s Disease (based on his <a title="APOE study" href="http://www.nejm.org/doi/full/10.1056/NEJMoa0809578" target="_blank" rel="noopener">studies</a>, people generally cope pretty well), legal implications of patenting gene discoveries (still under review), and conversations about the field of medical genetics (it needs an overhaul, according to some), just to name a few. 23andMe customers may also enjoy Angrist’s brief description of his visit to our (former) company headquarters, his educational snippets about DNA jargon (what the heck is linkage disequilibrium, anyways?), and his discussion of genetic ancestry (including a shout-out to <a title="Relative Finder" href="https://www.23andme.com/ancestry/relfinder/" target="_blank" rel="noopener">23andMe’s Relative Finder tool</a>).
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Overall, Here is a Human Being is an honest, humbling account of one man’s journey through the ultimate self-discovery: personal genome sequencing. With his wry sense of humor and interesting anecdotes, Misha Angrist creates an approachable and engaging story about genetics, sequencing technology, and the brains behind the industry. By sharing his journey, Angrist takes a step towards reducing the uncertainty and accompanying anxiety that often plague the personal genomics space.</div>
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<div>Here is a Human Being reminds us “that there [is] someone&#8211;an anxious middle-aged dude with a wife and two kids, susceptible to metabolic syndrome, plays a crude approximation of guitar in a rock band&#8211;behind those cells, that tissue, those brain scans, and that DNA.”</div>
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<div>In the midst of all the controversy, sometimes we speak so much of genes in the abstract that we forget that genetics is personal&#8230; it doesn’t get any more personal than the blueprint of what makes you you.
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News — Page 32