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

23andMe Blog

23andMe Blog Team

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

<img loading="lazy" decoding="async" class="alignright size-full wp-image-9196" title="23andWe_people" src="https://blog-api.23andme.com/wp-content/uploads/2011/06/23andWe_people.png" alt="" width="146" height="114" /><img loading="lazy" decoding="async" class="alignright size-full wp-image-9197" title="research_springboard" src="https://blog-api.23andme.com/wp-content/uploads/2011/06/research_springboard.png" alt="" width="135" height="109" />
It’s been nearly a year since we published our first scientific paper. Titled “<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1000993" target="_blank" rel="noopener noreferrer">Web-based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits</a>,” the paper demonstrated that <a href="https://www.23andme.com/research" target="_blank" rel="noopener noreferrer">23andWe</a>, our revolutionary new research model, works.
Since then we’ve been making exciting progress, applying the research framework to dozens of common medical conditions, studies of drug response, infectious diseases, and more physical traits. Our database is also growing larger every day, making this one of the largest collaborative research projects in the world, and certainly the largest one where every research participant has access to his or her own genetic data.
We believe research is a two-way process, where participants are valued as partners in scientific discovery. As part of our commitment to involving everyone in the research process, we’ve launched <a href="https://www.23andme.com/publications/" target="_blank" rel="noopener noreferrer">23andMe Research Findings</a>, a regularly updated public gallery of some of the latest findings to come out of our ongoing research.
A few of these findings have already been published and may be familiar, but others are completely new. Many will be incorporated into published papers in the future. And while some may never make it into a scientific journal &#8212; findings may ultimately fail to be confirmed or may be on more, shall we say, &#8220;niche&#8221; topics &#8212; we still feel it’s important to keep everyone updated on our progress, especially those who have contributed to the research effort.
This month, our gallery features three brand new findings:
<table style="margin-top: 15px; margin-bottom: 15px;">
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<td width="90"><img loading="lazy" decoding="async" class="alignleft size-thumbnail wp-image-9182" title="istock-throatpain-cropped" src="https://blog-api.23andme.com/wp-content/uploads/2011/06/istock-throatpain-cropped-150x150.jpg" alt="" width="75" height="75" /></td>
<td valign="top">New genetic factors for hypothyroidism 
23andWe research suggests two novel connections between genetics and hypothyroidism, and implicates two other thyroid-related genes. Hypothyroidism affects about 5% of the population, especially women over the age of 50.</td>
</tr>
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<td><img loading="lazy" decoding="async" class="alignleft size-thumbnail wp-image-9184" style="margin-top: 15px;" title="earwax" src="https://blog-api.23andme.com/wp-content/uploads/2011/06/earwax-150x150.jpg" alt="" width="75" height="75" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/06/earwax-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2011/06/earwax.jpg 264w" sizes="auto, (max-width: 75px) 100vw, 75px" /></td>
<td valign="top">
Wet and dry earwax isn’t just about one gene 
<a href="https://www.23andme.com/topics/traits/earwax-type/">Earwax type</a> is traditionally thought to be determined by a single gene, ABCC11, but our research suggests that another gene, PKD1L3, is also involved. (Photo credit: <a href="https://secure.wikimedia.org/wikipedia/commons/wiki/File:Earwax_on_swab.jpg" target="_blank" rel="noopener noreferrer">Gregory F. Maxwell</a>)
</td>
</tr>
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<td><img loading="lazy" decoding="async" class="alignleft size-thumbnail wp-image-9185" style="margin-top: 15px;" title="allergy" src="https://blog-api.23andme.com/wp-content/uploads/2011/06/allergy-150x150.jpg" alt="" width="75" height="75" /></td>
<td>Allergies of a feather flock together &#8212; sometimes 
It’s not surprising that people with allergies tend to be allergic to multiple things, but which allergies group together in our research participants and which don’t might not be exactly what you’d expect.</td>
</tr>
</tbody>
</table>
Read more about these and other <a href="https://www.23andme.com/publications/" target="_blank" rel="noopener noreferrer">23andMe Research Findings</a>, and stay tuned for more!

23andMe Research Findings: From You, Back to You

<div style="width: 300px; border: 2px solid #000000; background-color: #ffffff; float: right; padding: 10px; margin-left: 15px;">
<img loading="lazy" decoding="async" class="aligncenter wp-image-9149 size-larger" title="100000_ascii" src="http://35.88.189.111/wp-content/uploads/2011/05/100000_ascii-880x257.png" alt="An image of the number 100,000." width="880" height="257" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/05/100000_ascii-880x257.png 880w, https://blogcms.23andme.com/wp-content/uploads/2011/05/100000_ascii-300x88.png 300w, https://blogcms.23andme.com/wp-content/uploads/2011/05/100000_ascii-768x224.png 768w, https://blogcms.23andme.com/wp-content/uploads/2011/05/100000_ascii-1024x299.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2011/05/100000_ascii.png 1069w" sizes="auto, (max-width: 880px) 100vw, 880px" />
Database Snapshot:
100,611 users genotyped
76% have agreed to participate in research
59% take surveys
57% are male
47% are sharing with other users
12% have multiple ancestries
45 is the average age
100,409 posts in our community forums
60,000 pairs of relatives among users (4th cousin or closer)
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More than 100,000 people have turned to 23andMe to explore their DNA for insights into their health and ancestry.
<h6>More than a Number</h6>
Linked by a shared curiosity about themselves and a willingness to participate in research, these individuals have created a powerful tool for making discoveries that could help many others. 23andMe’s unique combination of DNA technology, web-accessible tools, and content, and social networking has empowered users, who, in turn, have helped us create a new paradigm for research.
So far, more than three-fourths of 23andMe’s users have allowed our scientists to incorporate their genetic data, as well as their responses to online questionnaires, into our research. Nearly 60,000 of our users take online surveys and those who take surveys filled out at least 10 on average. They’ve contributed millions of responses to thousands of survey questions. Hundreds of users have also taken the step of submitting research topics of their own for 23andMe to investigate.
Clearly, people want a voice in reshaping healthcare and they want to accelerate scientific discovery.
<h6>23andMe Research</h6>
Through the flow of survey responses and the continued growth of our database, we’ve broken new ground. Our team of 20 scientists –including statistical geneticists, survey specialists, bioinformaticists and a medical doctor – run more than 1,000 genome-wide association studies for hundreds of conditions on a regular basis.
<img loading="lazy" decoding="async" class="alignright wp-image-4013 size-medium" title="geneticresearch7" src="http://35.88.189.111/wp-content/uploads/2009/07/geneticresearch7-300x230.jpg" alt="An illustration of how 23andMe customers genetics and survey responses contribute to research findings." width="300" height="230" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearch7-300x230.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearch7.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />
In just about three years, we’ve discovered new genetic associations for common traits, found novel genetic links for childhood and adult infections, replicated more than 150 previously identified genetic associations for dozens of common diseases and medical conditions, and discovered several new genetic variants associated with Parkinson’s disease.
Our Parkinson’s Research Community represents one of the largest Parkinson’s studies in the world. It’s a model we’ve used for our Sarcoma Research Community, which is now one of the largest group of patients with this rare disease. And we’re applying our research model in many other areas, including a recently-launched NIH-funded study into how genetics affects individual response to common medications.
As more people join 23andMe, our collective understanding of human genetics grows. We are focusing on research where it is needed most. We are accelerating the pace at which our discoveries come back to those who contribute to it. We believe that a world in which individuals understand more about themselves is good. And we know that 100,000 is only the beginning.

23andMe 2011 State of the Database

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

Sarcoma Community Update

In an age when even the president has to offer up his birth certificate to prove he was born in the U.S., it&#8217;s probably not going to be easy to convince skeptics that the world&#8217;s best known terrorist leader is dead.
Perhaps a little DNA fingerprinting will do the trick in this bit of the Global War on Terror (GWAT).
Among the flurry of stories about the <a href="https://www.nytimes.com/2011/05/02/world/asia/02reconstruct-capture-osama-bin-laden.html?scp=3&amp;sq=DNA&amp;st=cse">demise</a> of Osama bin Laden at the hands of American Special Forces are a few regarding the science behind how his identity was confirmed.
Beyond just seeing him with their own eyes and talking to his family – one of his wives reportedly <a href="http://healthland.time.com/2011/05/02/its-a-match-how-officials-used-dna-to-identify-bin-laden/">confirmed</a> the man killed was indeed Bin Laden – the team of Navy SEALs reportedly used <a href="https://www.fastcompany.com/1751030/how-a-dna-identity-test-on-osama-bin-laden-works">DNA fingerprinting</a> to offer the final proof.
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-3837" title="DNA code analysis" src="https://blog-api.23andme.com/wp-content/uploads/2009/06/atcg-300x199.jpg" alt="" width="300" height="199" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/06/atcg-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2009/06/atcg.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />
In a wonderful post at the Scientific American, guest blogger Christie Wilcox breaks down the steps for a fast DNA fingerprinting process that could be done in less than five hours.
Wilcox lists how a DNA sample could be quickly extracted and then specific regions of interest amplified using PCR (short for “Polymerase Chain Reaction”). The regions of interest are places where short sequences of DNA repeat themselves a variable numbers of times. The more closely two people are related, the more likely it is for the numbers of repeats in each region to match. And if two samples are identical, the numbers of repeats will be also be identical.
The sample could be compared against another sample to verify identity or relatedness.
In the case of Bin Laden, several news sources reported that authorities had gotten DNA samples from his family members, including one from his sister who died recently at a hospital in Boston.
Kit Eaton, at <a href="https://www.fastcompany.com/1751030/how-a-dna-identity-test-on-osama-bin-laden-works">FastCompany</a>, writes about another type of DNA matching using technology similar to 23andMe’s genotyping test that typically takes about two weeks to complete but in this case could be done in as little as two hours.
A key difference between DNA fingerprinting and the genotyping done by 23andMe is the type of DNA variation being looked at.
Traditional forensic DNA fingerprinting looks at the lengths of short, repeated DNA sequences, while 23andMe&#8217;s genotyping technology analyzes a person&#8217;s DNA for specific locations where the sequence is known to vary, for example from an &#8220;A&#8221; to a &#8220;C&#8221;.
Our current genotyping platform looks at nearly 1 million such locations across the entire genome. This amount of DNA data is enough to give a broad range of information on both health and ancestry. In the case of relatives, it easily identifies close family members, but can also identify more distant cousins who share even small segments of identical DNA.

DNA Analysis Stars in GWAT

<img loading="lazy" decoding="async" class="alignleft wp-image-9002 size-medium" title="l.tif" src="http://35.88.189.111/wp-content/uploads/2011/04/Birthday-Cake--229x300.jpg" alt="" width="229" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/04/Birthday-Cake--229x300.jpg 229w, https://blogcms.23andme.com/wp-content/uploads/2011/04/Birthday-Cake-.jpg 605w" sizes="auto, (max-width: 229px) 100vw, 229px" />
The typical five year-old is pretty confident, filled with energy and imagination. Maybe a little loud.
Yesterday, 23andMe turned five.
We’re brimming with vigor and vision. Still a little brash.
<a href="../articles/the-power-of-we/" target="_blank" rel="noopener">Conceived</a> with the goal of allowing people to explore their genetic information, 23andMe uses new tools that allow people to gain insight into their ancestry, genealogy and health.
Who knew that would be so <a href="https://www.nytimes.com/2011/01/18/science/18tier.html?scp=9&amp;sq=genetic%20tests&amp;st=cse" target="_blank" rel="noopener">controversial</a>?
On top of giving people access to their genetic information, we’ve invited them to join our new research paradigm. This idea inspired the vision for creating the company in the first place. Build an ever-growing database of genetic information to accelerate research and engage people in that exploration.
In the five years we’ve been in business we’ve done just that.
Tens of thousands of people have sifted through their genetic information at 23andMe.
They’ve found everything from whether they’ve got a “<a href="https://www.23andme.com/gen101/variation/speed/" target="_blank" rel="noopener">sprinter’s gene</a>,” to a friend in Norway who’s actually a fifth cousin to whether they have an elevated genetic risk for breast cancer. 
 
The draw of finding out more about ourselves individually empowers us to find out more about ourselves communally.
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-4011" title="geneticresearchpanel7" src="https://blog-api.23andme.com/wp-content/uploads/2009/07/geneticresearchpanel7-300x230.jpg" alt="" width="300" height="230" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearchpanel7-300x230.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearchpanel7-768x589.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearchpanel7-1024x786.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearchpanel7-880x675.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearchpanel7-1180x905.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearchpanel7.jpg 1195w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Our first <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1000993" target="_blank" rel="noopener">proof-of-concept study</a> uncovered associations with common traits like hair curl, eye color, and whether you can smell the by-products of asparagus. Since then, we’ve presented <a href="../articles/23andme-research-team-presents-findings-at-international-human-genetics-meeting/" target="_blank" rel="noopener">preliminary findings</a> from our studies uncovering novel genetic links to childhood and adult infections, Parkinson’s disease, and hair traits. And our studies have replicated more than 100 previously identified genetic associations for dozens of common diseases and medical conditions. All in a <a href="https://www.wired.com/magazine/2010/06/ff_sergeys_search/" target="_blank" rel="noopener">fraction of the time</a> it typically takes to conduct such studies.
We are still enrolling people in our new<a href="https://www.23andme.com/sarcoma/" target="_blank" rel="noopener"> Sarcoma community</a>. We plan to combine genetic information with survey data to detect patterns for better understanding the biology of sarcoma.
Our <a href="https://www.23andme.com/research/" target="_blank" rel="noopener">research initiatives</a> have already begun to yield results.
Earlier this month at a workshop sponsored by the <a href="http://www.ninds.nih.gov/index.htm" target="_blank" rel="noopener">National Institute for Neurological Disorders and Stroke</a> (NINDS) in Washington, D.C. our scientists presented more discoveries from our growing Parkinson’s Disease Research Initiative. Working with our partners – the <a href="http://www.thepi.org/" target="_blank" rel="noopener">Parkinson’s Institute</a> and the <a href="http://www.michaeljfox.org/" target="_blank" rel="noopener">Michael J. Fox Foundation</a>, among others – and the people who have volunteered to be part of this ongoing research we conducted the largest genome-wide association study of Parkinson’s based on a single cohort. Almost 3,500 people with Parkinson’s participated and another 30,000 people were included as part of a control group. The number of people with Parkinson&#8217;s who&#8217;ve now enrolled in our on-going study has grown to about 5,000. We hope to reach 10,000.
<img decoding="async" class="alignleft size-medium wp-image-9021" title="pd-thermometer" src="https://blog-api.23andme.com/wp-content/uploads/2011/04/pd-thermometer-300x273.png" alt="" width="250">
The study identified a substantial genetic component underlying the development of the debilitating disease. The work also identified two new genetic variants associated with Parkinson’s and confirmed 20 other genetic associations previously identified including variants near the LRRK2, GBA, SNCA, MAPT, GAK, and the HLA genes. We are planning to publish these results soon.
23andMe scientist Dr. Chuong Do said the work in this study indicates the heritability of Parkinson’s disease is at least 25 percent.
But the work has really only scratched the surface. The next step is collaborating with several other groups and combining data sets to look at perhaps as many as 15,000 cases. Do feels confident that additional novel variants will be found that could help shed more light on the disease.
In the meantime, 23andMe customers now can access updated information about the genetics of Parkinson’s disease in their accounts. We have added four well-established genetic associations to the calculation of risk for Parkinson’s disease, of which three are also applicable to East Asian populations. We plan to update the Parkinson’s Disease report again soon once our own study is published.
Our first five years have been exciting, inspiring, and rewarding. Thank you to all of our customers, collaborators, and research contributors.
We’re still discovering the power of genetics to inform and inspire both intellectual and personal exploration. We hope you’ll continue on this journey with us.
<img loading="lazy" decoding="async" class="aligncenter wp-image-9008 size-full" title="2011company_photo" src="http://35.88.189.111/wp-content/uploads/2011/04/2011company_photo.jpg" alt="" width="500" height="321" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/04/2011company_photo.jpg 500w, https://blogcms.23andme.com/wp-content/uploads/2011/04/2011company_photo-300x193.jpg 300w" sizes="auto, (max-width: 500px) 100vw, 500px" />

Cinco de Me-O

<img loading="lazy" decoding="async" class="alignright wp-image-8953 size-medium" title="MJS &quot;One in a Billion&quot;" src="http://35.88.189.111/wp-content/uploads/2011/04/MJS-One-in-a-Billion--285x300.jpg" alt="" width="285" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/04/MJS-One-in-a-Billion--285x300.jpg 285w, https://blogcms.23andme.com/wp-content/uploads/2011/04/MJS-One-in-a-Billion-.jpg 672w" sizes="auto, (max-width: 285px) 100vw, 285px" />
Kathleen Gallagher and Mark Johnson are good reporters but it didn’t take a lot to figure out that the tip they got was big news.
Doctors, Gallagher heard, had used genetic sequencing to crack the mystery behind an illness slowly robbing a young boy of his life.
“The tip that she had was that they had already sequenced a child’s genes and used it for a diagnosis,” Johnson told the <a title="Nieman Q and A" href="http://niemanstoryboard.us/2011/01/07/kathleen-gallagher-and-mark-johnson-on-a1-steak-sauce-a-4-year-old-boy-your-genetic-future/" target="_blank" rel="noopener">Nieman Storyboard in January</a>. Storyboard is a project of the Nieman Foundation for Journalism at Harvard.
“I think she knew that they’d found a mutation, and it was something never seen before,” Johnson said.
The tip was the seed that grew into a riveting and moving <a title="One in a Billion" href="http://www.jsonline.com/features/health/111224104.html" target="_blank" rel="noopener">three-part series</a> in the Milwaukee Journal Sentinel. The piece, which ran in December of last year, just won the <a title="Explanatory Reporting" href="http://www.pulitzer.org/biography/2011-Explanatory-Reporting">Pulitzer Prize for explanatory reporting</a>. Gallagher and Johnson shared the prize with photographer Gary Porter, videographer Allison Sherwood and graphic artist Lou Saldivar.
The work done by the Children’s Hospital of Wisconsin and the Medical College of Wisconsin pushed into new realms, turning to sequencing for answers to a young boy&#8217;s mysterious and life-threatening medical condition. The boy had severe bowel problems that included several abscesses, fistulas and deep fissures that were prone to infection. Now 6, he was first brought into the hospital when he was just 15 months. He underwent more than 100 surgeries by the time he was 3.
At first he was thought to have Crohn&#8217;s disease, but  years of treatment did little for his symptoms, which got worse. Eventually doctors decided to take a broad exome sequencing approach – where only the gene-coding regions of the genome are sequenced – in an attempt to diagnose and possibly treat his illness. Doctors and researchers painstakingly narrowed down the possible gene mutations responsible for his illness from 16,124 to just one. Now the boy is being treated to maintain his health after receiving a cord blood transplant that the doctors believe will address the damage cause by that single mutation.
Even before the piece was singled out by the Pulitzer committee, the series and the case of the small boy attracted attention from science <a title="Genetics in Medicine" href="http://journals.lww.com/geneticsinmedicine/Abstract/2011/03000/Making_a_definitive_diagnosis__Successful_clinical.15.aspx" target="_blank" rel="noopener">journals</a>, <a href="http://blogs.forbes.com/matthewherper/2011/01/05/the-first-child-saved-by-dna-sequencing/" target="_blank" rel="noopener">medical bloggers </a>and those tracking advances in personal genomics.
Luke Jostins helped put the science into context at the blog Genomes Unzipped. More recently over at <a title="Wired Science" href="https://www.wired.com/wiredscience/2011/04/how-new-sequencing-technologies-are-unravelling-rare-genetic-diseases/" target="_blank" rel="noopener">Wired Science</a>, Daniel MacArthur detailed some other examples of sequencing technology being used to diagnose rare genetic disease.
<a href="https://blog.23andme.com/articles/when-rare-is-not-rare-help-fight-rare-disease-today-and-everyday/" target="_blank" rel="noopener">Single-gene disorders are rare</a>, but collectively they affect as many as one in 10 people in the United States alone. This case offers a glimpse of how genetic medicine could benefit this underserved population, and Gallagher and Johbnson&#8217;s Pulitzer Prize-winning series makes the human impact of the science powerfully clear.

Pulitzer Prize for Sequencing Story

Invitation to Participate in New Research Project &#8212; Social Networking and Personal Genomics: Emerging Issues For Health Research
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-8861" title="social-network" src="https://blog-api.23andme.com/wp-content/uploads/2011/04/social-network-300x225.jpg" alt="" width="300" height="225" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/04/social-network-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/04/social-network.jpg 400w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Do you share your information with others? How has your personal genetic information influenced your lifestyle and the way you approach your health and medical decisions? Can genetic information create new communities and connections?
As personal genetic information has become accessible to individuals outside of the framework of the healthcare system, very little about how this information impacts health-related decisions, attitudes towards personal privacy and the formation of communities is understood. In collaboration with 23andMe, Inc., Sandra Soo- Jin Lee, Ph. D, a Senior Research Scholar at Stanford University’s Center for Biomedical Ethics, is studying individual experiences with sharing personal genetic information with others and its potential impact on health behavior, research efforts and social identity.
The Social Networking and Personal Genomics Study at the Center for Biomedical Ethics invites participants between the ages of 18 and 75 to spend approximately 2 hours with us in a focus group setting. Participants must have purchased direct-to-consumer personal genetic information from 23andMe, Inc., shared their information with others, and be willing to discuss their perspectives and experiences. Focus group members will receive a $50 gift card for their participation and childcare will be available on an as-needed basis at no cost. For additional information or to enroll, please contact Simone Vernez, Project Manager, by email at <a href="mailto:svernez@stanford.edu">svernez@stanford.edu</a> or by telephone at (650) 723- 9364. For more information on the study itself, including specific research aims and funding please visit <a href="http://bioethics.stanford.edu/research/SocialNetworkingandPersonalGenomics.html" target="_blank" rel="noopener">http://bioethics.stanford.edu/research/SocialNetworkingandPersonalGenomics.html</a>. For general information about participant rights, contact 1-866-680-2906.
NHGRI funded R01 Grant Project R01HG05086: Social Networking and Personal Genomics: Emerging Issues for Health Research (PI: Sandra Soo-Jin Lee, Ph.D).

Call to Participate in a New Study on Social Networking and Personal Genomics

Whether you reach for a Starbuck’s Venti – the “Big Gulp” of coffee servings – or a wee size cup of Joe in the morning, or none at all, might be influenced by your genes.
<img loading="lazy" decoding="async" class="alignright wp-image-296 size-medium" title="cup-hand-bigfotocom" src="http://35.88.189.111/wp-content/uploads/2008/06/cup-hand-bigfotocom-300x197.jpg" alt="" width="300" height="197" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/06/cup-hand-bigfotocom-300x197.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2008/06/cup-hand-bigfotocom-768x503.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2008/06/cup-hand-bigfotocom-1024x671.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2008/06/cup-hand-bigfotocom-880x576.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2008/06/cup-hand-bigfotocom-1180x773.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2008/06/cup-hand-bigfotocom.jpg 1200w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Two recently published studies found an association between coffee and <a href="https://www.23andme.com/topics/wellness/caffeine-consumption/">caffeine consumption</a> and SNP variants near the same two genes, CYP1A1 and AHR. One study looked at coffee consumption specifically; the other looked at all caffeine consumption including from tea, soda and chocolate, but coffee was by far the main source of caffeine for the participants.
Scientists from deCode Genetics in Iceland studied more than 10,000 coffee drinkers in European descent mainly in Europe. Their results published in  <a href="http://hmg.oxfordjournals.org/content/early/2011/02/27/hmg.ddr086.abstract" target="_blank" rel="noopener noreferrer">Human Molecular Genetics</a> in February pinpointed two SNPs near the CYP1A1 and AHR genes. The variant near CYP1A1 had a fairly consistent effect. People with the variant were prone to drink about a quarter cup more of coffee a day, according to the study. (23andMe also looks at a variant that affects how quickly a person  metabolizes caffeine. )
The other study, which was published in <a href="http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1002033" target="_blank" rel="noopener noreferrer">PLoS Biology</a> and included more than 47,000 individuals with European ancestry living in the U.S., made similar findings, noting that people with two copies of a variant near the AHR gene drank about a third of a cup of coffee more each day than those without any copies.
&#8220;Now, for the first time, we know specific genes that influence the amount of caffeine that individuals consume,&#8221; Dr. Neil Caporaso of the National Cancer Institute <a href="http://www.bbc.co.uk/news/health-12992374" target="_blank" rel="noopener noreferrer">told the BBC</a>. Caporaso, the co-author of study in the US, noted that while researchers know about associations between hundreds of genes and specific medical conditions, how those variants relate to dietary consumption is less well known.
Beyond that, both studies offer intriguing hints about how these two genes might interact, but more research is needed. In the meantime how people relate to their morning fix of java is well known, perhaps best summed up by Johann Sebastian Bach in his &#8220;Coffee Cantata:&#8221;
&#8220;How sweet the coffee tastes, more delicious than a thousand kisses . . . . Coffee, I must have coffee . . . . If I don&#8217;t get my three cups of coffee each day, I&#8217;ll shrivel up like a piece of roast goat.&#8221;

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