<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.

23andMe Blog

23andMe Blog Team

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

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

<img decoding="async" class="alignright size-medium wp-image-8732" title="DNA-chains" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg" alt="" width="300" />
On March 8th, the FDA convened a two-day advisory panel meeting to discuss questions related to direct-to-consumer genetic tests. The questions focused on the benefits and risks of providing consumers with direct access to these tests, potential strategies for communication and education to mitigate any risks, and regulatory standards for ensuring that the tests are accurate and reliable. As one of the leading companies in this area, we felt it was important to outline our perspectives and broad requests on these topics, and were pleased to see many other companies from the industry join us in expressing similar views. Updated meeting materials are now available  on the FDA website, and both presentations that 23andMe gave at this meeting are available <a href="https://blog.23andme.com/articles/23andme-presents-at-fda-advisory-panel-meeting-on-direct-to-consumer-genetic-tests/" target="_blank" rel="noopener">here</a>.
In the several years since the direct-to-consumer genetic testing industry made its debut, it has seen all manner of reaction. Many are fascinated by our newfound ability to peek into our genomes, to add another source of data to the ones we already collect, and to leverage it to know more about our connections to the world, whether that be literally through known and predicted relatives or through the relationship between genetics and our health and traits. Others may not be interested or may not want to know what their genetics might tell them.  But some feel that all genetic tests and/or their interpretations should be available only through a physician.
For our part, 23andMe was founded on the belief that individuals have a right to access their own genetic information, and this conviction is still as firmly held as ever.
While the debate is clearly no longer academic &#8212; many more people are aware of and using these tests and the FDA is taking an active role in learning about and devising guidelines for this industry as a result &#8212; it is clear that challenges remain. Some observers fear that the panel’s recommendations will severely curtail direct access to genetic testing, but we agree with <a href="http://www.genomicslawreport.com/index.php/2011/03/11/the-fda-and-dtc-genetic-testing-setting-the-record-straight/" target="_blank" rel="noopener">Dan Vorhaus</a> of Genomics Law Report that the FDA will take a reasoned approach to integrating the feedback it received from its panel with other information pertinent to the issue.
The advisory panel meeting was in many ways a microcosm of the ongoing debate, with one exception. Although the panel had an individual representing the consumer and the patient, the panel did not have the opportunity to hear directly from consumers and others who have first-hand experience with the information provided by direct-access genetic testing services.
Fortunately, there are many channels through which you can make your voices heard. The FDA has reopened the public docket on this topic for the submission of additional comments (until May 2, 2011) and we strongly encourage those of you with an opinion or perspective on the questions posed by the FDA regarding DTC genetic tests to send in a comment. Regardless of the content of those comments, we believe that a larger number and a wider variety of comments will be beneficial for helping the FDA to guide its regulatory policies in this area.
<ul>
<li>Electronic comments can be submitted at <a href="http://www.regulations.gov/" target="_blank" rel="noopener">http://www.regulations.gov/</a>, referencing docket ID FDA-2011-N-0066.</li>
<li>Written comments, referencing docket ID FDA-2011-N-0066 in the header, can be sent to: 
Division of Dockets Management (HFA-305) 
Food and Drug Administration 
5630 Fishers Lane, Rm 1061 
Rockville, MD 20852</li>
</ul>
You can also post comments to the <a href="https://www.facebook.com/FDA" target="_blank" rel="noopener">FDA Facebook page</a>, or attend one of several FDA (Center for Devices and Radiological Health, or CDRH) town hall meetings. The next town hall meeting will be held in May in Orlando, FL, and there is also one planned for San Francisco at a place and time to be announced.
Finally, it may be helpful to make your congressional representatives aware of your views on this issue. You may contact members of the <a href="https://en.wikipedia.org/wiki/United_States_House_Committee_on_Energy_and_Commerce" target="_blank" rel="noopener">House Committee on Energy and Commerce</a>, or find contact information online for your own House representative or <a href="http://www.senate.gov/general/contact_information/senators_cfm.cfm" target="_blank" rel="noopener">Senator</a>.

DTC Genetic Tests and the Future of Regulation: Make Your Voices Heard

<img loading="lazy" decoding="async" class="alignright wp-image-8653 size-medium" title="kidneys" src="http://35.88.189.111/wp-content/uploads/2011/03/a-300x223.jpg" alt="" width="300" height="223" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/03/a-300x223.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/03/a.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />
This month, take a few minutes to appreciate your kidneys. These workhorses filter wastes, toxins and excess fluids from the blood, regulate the balance of ions and other chemicals in your body, and release hormones important for blood production, blood pressure regulation, and calcium balance.
Given all that they have to do, it&#8217;s no surprise that damage to the kidneys can cause serious problems. Sudden damage can result in acute kidney failure but more commonly the damage accumulates over time and leads to a gradual decrease in the kidneys&#8217; ability to do their many jobs. This type of damage is known as chronic kidney disease, and the later stages can cause complications such as heart disease, anemia, and nerve damage. End-stage kidney disease is defined by kidney failure and requires either lifelong dialysis &#8212; where a person&#8217;s blood is pumped through a machine that acts like an artificial kidney &#8212; or a kidney transplant.
During this month, 23andMe will be adding new reports and associations on <a href="https://www.23andme.com/topics/carrier/polycystic-kidney-disease/">kidney disease</a> to help our customers become better informed about these conditions. This week, we released a new Established Research report on Chronic Kidney Disease and updated our Preliminary Research report on Kidney Disease to include more preliminary findings for chronic kidney disease as well as new findings for a less common kidney condition known as idiopathic membranous nephropathy. In the coming weeks, also look for an update to our report on Type 2 Diabetes (a major cause of kidney disease) and a new report on kidney stones.
Fortunately, many of the things that keep kidneys healthy are things that keep the rest of you healthy as well. These things include maintaining healthy blood pressure and blood sugar levels, being physically active, limiting sodium intake, and eating a healthy diet high in fruits, vegetables, and whole grains. If you have high blood pressure or diabetes, you should also talk to your doctor about getting screened regularly, as these conditions increase your risk for kidney disease.
Check out these resources for learning more about your kidneys and kidney disease:
<ul>
<li>National Kidney Disease Education Program &#8211; <a href="http://www.nkdep.nih.gov/kidneymonth/" target="_blank" rel="noopener noreferrer">10 things you can do to protect your kidneys</a></li>
<li><a href="https://www.facebook.com/KidneyDiseaseAwareness" target="_blank" rel="noopener noreferrer">Kidney Disease Awareness</a> on Facebook</li>
<li>National Kidney Foundation &#8211; <a href="http://www.kidney.org/kidneydisease/ckd/index.cfm" target="_blank" rel="noopener noreferrer">Chronic kidney disease</a></li>
</ul>

March is Kidney Awareness Month!

by Mike Macpherson, Shirley Wu, and Joanna Mountain
<img loading="lazy" decoding="async" class="alignright wp-image-8628 size-medium" title="Hadza-hunter" src="http://35.88.189.111/wp-content/uploads/2011/03/Hadza-hunter-300x200.jpg" alt="A photo of a smiling young Hadza hunter girl." width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/03/Hadza-hunter-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/03/Hadza-hunter.jpg 424w" sizes="auto, (max-width: 300px) 100vw, 300px" />A young Hadza hunter
From just flecks of bone and specks of DNA, scientists have been able to piece together a story of the origin of our species.
<h2>Out of East Africa?</h2>
That story, by most accounts, begins in eastern Africa 100-200,000 years ago. After all, multiple lines of evidence point to eastern Africa &#8212; it’s where the oldest recognizable human bones have been found, where the linguistic diversity is richest, and it fits the available genetic data.
However, in this week’s issue of PNAS, researchers, including those from Stanford, UCSF, and 23andMe, present much more extensive genetic evidence suggesting that humans may have originated not in eastern but in southern Africa.
<h2>Using DNA</h2>
How can genetics tell you where a species originated? A general principle is that you tend to find the highest levels of genetic variation in the portion of the population that’s been around the longest. That’s because sub-populations that split off from an original population start out with just a sample of the original population’s gene pool, and it takes a very long time for new genetic variation to build up in the new sub-population.
Using this principle, one strategy for identifying a species&#8217; origin is to measure genetic variation in several places where the species lives and look for the place where the genetic variation is highest.
For this study, the authors gathered new genome-wide data from three click-speaking peoples from southern Africa living for millennia in relative isolation and seven northern African peoples. They also assembled existing genome-wide data from 14 further African populations, covering eastern, western, and central Africa, resulting in a continent-wide representation of genetic variation.
<h2>Different Theories</h2>
With this much coverage, the researchers would have been in a position to find evidence for human origins in any part of Africa; eastern Africa would be the front-runner, but researchers have argued that northern, central, and southern Africa are also plausible candidates.
However, they found that among all the populations they looked at, the highest levels of genetic variation were found in southern Africa. This suggests, the authors conclude that each of us may trace our ancestry (ignoring any contributions from Neandertals for now!) back to southern Africa, sometimes less than 100,000 years ago.
Although this new genetic evidence is intriguing, it’s not the end of the story. There’s some archaeological evidence to support a southern African origin, but for now, it’s fairly limited. These new data are also consistent with a scenario where humankind arose in eastern Africa but later migrated to southern Africa. Studies sampling genetic diversity in further African populations may help clarify the early history of our species.
<img loading="lazy" decoding="async" class="alignright wp-image-6513 size-medium" title="joanna_africa4" src="http://35.88.189.111/wp-content/uploads/2010/05/joanna_africa4-300x207.jpg" alt="" width="300" height="207" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/05/joanna_africa4-300x207.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/05/joanna_africa4.jpg 357w" sizes="auto, (max-width: 300px) 100vw, 300px" />Dr. Mountain in Africa during her time in the Peace Corps
<h2>Using GWAS</h2>
The insights of this study were enabled by genome-wide genetic data of the sort that 23andMe generates. In fact, they used exactly the kind of data that 23andMe generates; the southern African Sandawe, Hadza, and Khomani individuals were all genotyped on our 580,000-SNP v2 platform, just like many of our customers.
23andMe was proud to participate in this study, which was actually launched almost 15 years ago by 23andMe’s Senior Director of Research, Joanna Mountain. Dr. Mountain collected samples for the Hadza in Tanzania and initiated the recent sample collection in South Africa.
We are also proud to note that the study’s lead and second authors, Brenna Henn, and Christopher Gignoux, are former members of Team 23andMe. Brenna and Chris made many contributions to 23andMe’s product, most visibly to the Maternal and Paternal Line features.

Location, Location, Location: Did Humans Start Out in Southern Africa?

Editor&#8217;s note: This post has been altered from the original. The slides from the presentation have been removed.
23andMe, like many others, believes that individuals have a right to access their own genetic information and that personal genetics will pave the way for significant advances in healthcare. These beliefs fueled the development of our direct access <a href="https://www.23andme.com/howitworks/" target="_blank" rel="noopener">Personal Genome Service</a> ® &nbsp;and <a href="https://www.23andme.com/research/" target="_blank" rel="noopener">23andWe</a>, our web-based, participant-driven research platform. As for any other new industry
<img decoding="async" class="alignright size-full wp-image-6586" title="23andMe_Logo_blog" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg" alt="" width="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-271x271.jpg 271w" sizes="(max-width: 350px) 100vw, 350px" />
or technology, however, there are concerns about the validity, accuracy, and applicability of the services and information that companies in the direct-to-consumer genetic testing industry provide. 23andMe supports thoughtful regulation that ensures consumers receive high quality information and enables, rather than inhibits, innovation.
Over the next two days, the FDA is hosting an Advisory Panel Meeting to address a number of questions related to clinical genetic tests that are marketed and provided directly to consumers. The FDA will be hearing the ideas and perspectives primarily of the Molecular and Clinical Genetics Panel of the Medical Devices Advisory Committee, which include voting members and temporary members added for this meeting. In addition, the FDA has invited several speakers to present background information and their views on this topic, and has provided for one hour each day for public comment.
It is during the public comment period that 23andMe will be giving two presentations. This afternoon, 23andMe’s General Counsel Ashley Gould will speak about our position on the subject matter the panel will be addressing as well as our broad requests for the panel’s consideration. 23andMe’s Senior Director of Regulatory Affairs &amp; Quality Assurance, Rose Romeo, will present tomorrow afternoon on considerations for risk mitigation and thoughts on regulatory frameworks moving forward. Slides from both of their presentations can be viewed below. The agenda and other background material are available at the FDA website, including <a href="http://www.regulations.gov/#!docketDetail;dct=PS+N;rpp=10;po=0;D=FDA-2011-N-0066" target="_blank" rel="noopener">public comments</a>.
Much of the complexity in discussing regulation of genetic testing stems from the brisk evolution of technologies in this area. The first draft sequence of the human genome was first published only 10 years ago, and companies are now sequencing full genomes on demand at increasingly affordable prices. In our presentations, we take the position that all genetic testing services, whether ordered by a physician or offered through direct access, should adhere to the same standards. We simultaneously request that the FDA consider redefining and establishing regulatory standards, including some fundamental definitions, to accommodate large-scale genetic testing and support innovation of its technologies and applications. We also request that regulation be based upon evidence and not fear of potential harm to individuals which, to date, has not been demonstrated. In fact, growing numbers of participating individuals and independent studies focused on this issue provide preliminary evidence that the vast majority of people understand the information presented and experience no significant negative effects.
23andMe has been proactively collaborating with the FDA and remains committed to finding a path forward that benefits everyone. The addition of Rose Romeo to our team, who has extensive regulatory experience and is eager to help us forge that path, attests to the strength of that commitment. We look forward to working together with a wide variety of agencies, organizations, and the medical community at large to establish the regulatory and functional frameworks that will ensure consumers and healthcare professionals have access to genetic information that is clear, useful, and engaging.

23andMe Presents at FDA Advisory Panel

<img loading="lazy" decoding="async" class="alignright size-full wp-image-8588" title="KingsSpeech" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/MV5BMzU5MjEwMTg2Nl5BMl5BanBnXkFtZTcwNzM3MTYxNA@@._V1._SY317_CR10214317_.jpg" alt="" width="214" height="317" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/03/MV5BMzU5MjEwMTg2Nl5BMl5BanBnXkFtZTcwNzM3MTYxNA@@._V1._SY317_CR10214317_.jpg 214w, https://blogcms.23andme.com/wp-content/uploads/2011/03/MV5BMzU5MjEwMTg2Nl5BMl5BanBnXkFtZTcwNzM3MTYxNA@@._V1._SY317_CR10214317_-203x300.jpg 203w" sizes="auto, (max-width: 214px) 100vw, 214px" />
Many films have portrayed characters who stutter, but stuttering itself has rarely been the subject of a popular movie. That all changed with <a href="http://www.kingsspeech.com/" target="_blank" rel="noopener">The King’s Speech</a>, which made headlines last weekend at the 83rd annual Academy Awards and swept four of the most coveted award categories (Best Picture, Best Director, Best Screenplay, and Best Actor). This film tells the true story of King George VI, a man struggling with a stutter who suddenly finds himself thrust onto the global stage when his father dies and his brother abdicates the throne. With the help of an unconventional speech therapist, George VI gains the confidence and vocal control needed to inspire an entire empire about to enter the second World War.
The King’s Speech brings attention to one of the most common speech disorders. Stuttering &#8212; repetition of or difficulty starting words, syllables, or phrases &#8212; affects up to 5% of children, and although most cases resolve within a few years, it continues to affect about 1% of adults. If you stutter, you’re in good company: in addition to King George VI, <a href="http://www.stutteringhelp.org/Default.aspx?tabid=128" target="_blank" rel="noopener">famous and accomplished stutterers</a> include Winston Churchill, business executive Jack Welch, Vice President Joe Biden, composer Andrew Lloyd Webber, Marilyn Monroe, James Earl Jones, Nicole Kidman, NFL runningback Adrian Peterson, author Lewis Carroll, and Charles Darwin, to name only a few.
Although researchers don’t always know the exact causes of stuttering, there are a number of factors known to be involved. Some cases of stuttering can be attributed to language development &#8212; when a child’s vocal abilities can’t keep up with what they want to say &#8212; or disruptions in signaling between the brain and speaking organs, as might be caused by a brain injury. But stuttering is also much more common in boys, and tends to run in families, suggesting genetics plays an important role.
Last year, a study published in the <a href="http://www.nejm.org/doi/full/10.1056/NEJMoa0902630" target="_blank" rel="noopener">New England Journal of Medicine</a> identified for the first time specific genetic variants associated with stuttering. By analyzing DNA from a large Pakistani family, the researchers found a variant in the gene GNPTAB that was present in 25 out of 28 stutterers in that family. When they looked at this variant in other unrelated Pakistani stutterers and non-stutterers, they found it was present in about 10% of the stutterers but only about 1% of the non-stutterers. A <a href="https://www.nature.com/jhg/journal/v56/n1/full/jhg2010125a.html" target="_blank" rel="noopener">follow-up study</a> of this variant revealed that it likely arose from a single mutation event in an individual who lived about 570 generations ago.
Additional analysis in a larger sample of individuals of mainly European ancestry identified other, rarer mutations that may be associated with stuttering in GNPTAB as well as the GNPTG and NAGPA genes, which are closely related to GNPTAB in function. Certain mutations in the GNPTAB and GNPTG genes cause mucolipidosis, a rare, recessively-inherited disorder that affects many major organs and the motor and skeletal systems. Mucolipidosis is also often characterized by developmental problems and speech deficits, providing a link as to why other variants in these genes may predispose to stuttering and pointing to specific biological pathways that may be involved in common speech disorders.
&#8220;The King&#8217;s Speech has truly given a voice to the voiceless, hope to those who had none, and courage to those who struggle daily to be heard,&#8221; said <a href="http://www.stutteringhelp.org/Default.aspx?tabid=4" target="_blank" rel="noopener">Stuttering Foundation</a> President Jane Fraser in a <a href="http://www.stutteringhelp.org/default.aspx?tabindex=855&amp;tabid=868" target="_blank" rel="noopener">press release</a>. With the latest spotlight from the success of The King’s Speech, many hope that even more progress will be made towards awareness of stuttering and research into understanding its causes, both genetic and non-genetic.

News — Page 31