Every day at 23andMe is a research day.
<div id="attachment_25417" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-25417" src="https://blog-api.23andme.com/wp-content/uploads/2017/06/2017-06-01-11.13.16-300x265.jpg" alt="" class="wp-image-25417 size-medium" width="300" height="265" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/06/2017-06-01-11.13.16-300x265.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2017/06/2017-06-01-11.13.16-768x678.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2017/06/2017-06-01-11.13.16-1024x905.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2017/06/2017-06-01-11.13.16-880x777.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2017/06/2017-06-01-11.13.16-1180x1042.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2017/06/2017-06-01-11.13.16.jpg 1415w" sizes="auto, (max-width: 300px) 100vw, 300px" />Joyce Tung, 23andMe&#8217;s Vice President of Research, listening in on sequencing and imputation.</div>
But recently, we had our very first “23andMe Genome Research Day”, during which our scientists shared a little about what we do, and learned about some of the cutting edge work being done by outside academics and researchers.
More than 100 scientists from universities and research institutions around the San Francisco Bay area attended the event, which was the brainchild of our vice president of research Joyce Tung, PhD, who worked with her team to put it all together.
“We wanted an exchange of scientific ideas with our local scientific community,” said Joyce. “And we wanted to showcase some of the work being done every day by scientists at 23andMe.”
This kind of collaboration happens all the time during large conferences like the annual<a href="https://www.ashg.org/"> American Society of Human Genetics</a>, where we always have a large<a href="https://blog.23andme.com/23andme-research/find-us-at-ashg/"> presence</a>. But this event offered us a less formal way to meet with outside scientists and to exchange ideas. The day included presentations from 23andMe researchers, as well as researchers from several universities in California. There was also a poster session, offering scientists a forum to showcase their work and talk one-on-one with each other.
<div id="attachment_25423" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-25423" src="https://blog-api.23andme.com/wp-content/uploads/2017/06/2017-06-01-11.12.35-300x192.jpg" alt="" class="size-medium wp-image-25423" width="300" height="192" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/06/2017-06-01-11.12.35-300x192.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2017/06/2017-06-01-11.12.35-768x492.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2017/06/2017-06-01-11.12.35-1024x656.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2017/06/2017-06-01-11.12.35-880x564.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2017/06/2017-06-01-11.12.35-1180x756.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />Aaron Kleinman, PhD, discussing strategies for sequencing and imputation.</div>
This collaborative exchange is also a key part of what we believe in here at 23andMe. Our mission is to help people access, understand and benefit from the human genome. Part of that mission means that we work in collaboration with outside researchers to make discoveries. 23andMe has published more than 75 papers and much of that work has been done with outside collaborators. Science is often a collaborative process, so the Genome Research Day also offered 23andMe a chance to talk with scientists with whom we may want to work together with in the future, Joyce said.
23andMe researchers offered a peek at our work in sequencing, imputation, multi-variant modeling for risk predictions and therapeutics, while outside researchers presented posters on a range of topics some looking at human genetic variation and even Neanderthal population dynamics.
Aaron Kleinman, a 23andMe senior scientist and computational biologist, talked a little bit about the services we offer customers, as well as the efforts the company is making to improve diversity in genetic research. Aaron talked about two of those initiatives, one to create sequence panels for people of Ashkenazi Jewish Ancestry and the other to create a panel for African Americans to be used as a reference dataset for health research. The de-identified genetic data that is part of our African American Sequencing project will then be made available to other qualified researchers at institutions around the world. The hope is that this will help alleviate some of the disparities in health-related genetic research. With its large number of customers of diverse ancestry, this is something that 23andMe is “uniquely situated to do,” Aaron said.
On top of discussing what we currently are doing, 23andMe scientists also talked a little bit about what the future holds.<a href="https://blog.23andme.com/23andme-research/a-conversation-with-23andme-researcher-nick-furlotte/"> Nick Furlotte</a>, a 23andMe senior scientist and statistical geneticist, talked about the use of machine learning to create new types of polygenic risk prediction models. Health and traits are complex and are influenced not just by genetics, but by lifestyle, diet and environmental factors. With larger pools of data, more sophisticated computing power, Nick said 23andMe has the opportunity to create much more detailed and personalized health reports.
 All in all the day was a success, said Joyce.
“Doing great science doesn’t mean much unless you share it with others. We were happy to have the chance to share some of our work and to learn about what about the great things our neighbors in the scientific community are doing,” she said.

23andMe Blog

23andMe Blog Team

23andMe Genome Research Day

The U.S. Food and Drug Administration granted 23andMe authorization to offer ten genetic health risk <img loading="lazy" decoding="async" class="alignright size-medium wp-image-6586" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg" alt="23andMe_Logo_blog" width="300" height="300" srcset="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-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />reports including late-onset Alzheimer’s disease, Parkinson’s disease, celiac disease, and a condition associated with harmful blood clots.
For several years, 23andMe has worked on demonstrating that its reports are easy to understand and analytically valid in order to meet FDA requirements. The decision this week provides a clear pathway for submitting additional <a href="https://www.23andme.com/dna-health-ancestry/">genetic health risk reports</a> for the FDA’s consideration.
“The FDA has embraced innovation and has empowered people by authorizing direct access to this information,” said 23andMe co-founder and CEO Anne Wojcicki. “It is a significant step forward for 23andMe and for the adoption of personal genetics.”

<div style="float: right; text-align: justified; width: 350px; background-color: #eee; padding: 15px; margin-left: 10px;">Authorized Genetic Health Risk Reports:
• <a href="https://www.23andme.com/topics/health-predispositions/alpha-1-antitrypsin-deficiency">Alpha-1 Antitrypsin Deficiency (AATD)</a> 
AATD deficiency is a genetic condition that can lead to lung and liver disease. It is caused by decreased levels of the alpha-1 antitrypsin (AAT) enzyme.
• <a href="https://www.23andme.com/topics/health-predispositions/celiac-disease/">Celiac Disease</a> 
Celiac disease is a condition that is characterized by bloating, diarrhea, and abdominal pain after eating gluten.
• Early-Onset Primary Dystonia (DYT1/TOR1A-Related) 
Early-onset primary dystonia is a rare genetic condition characterized by involuntary muscle contractions and other uncontrolled movements. 
• Factor XI Deficiency 
Factor XI deficiency, also known as hemophilia type C, is a bleeding disorder caused by abnormally low levels of a protein called factor XI. When factor XI levels are too low, blood does not form clots properly to stop bleeding.
• <a href="https://www.23andme.com/topics/health-predispositions/g6pd-deficiency">G6PD Deficiency</a> 
G6PD deficiency is a common genetic condition characterized by episodes of anemia. People with this condition often have no symptoms unless triggered by certain factors. This condition is particularly common in people of African origin. 
•<a href="https://www.23andme.com/topics/carrier/gaucher-disease-type-1"> Gaucher Disease</a> 
Gaucher disease is a rare genetic disorder than can affect many organs. The most common form of this condition is Gaucher disease type 1, which often leads to an enlarged liver and spleen a well as bone abnormalities. A person must have two variants in the GBA gene in order to have Gaucher disease.
• <a href="https://www.23andme.com/topics/health-predispositions/hereditary-hemochromatosis/">Hereditary Hemochromatosis</a> 
Hereditary hemochromatosis is a genetic condition in which the body absorbs too much iron. This leads to iron overload, which can cause liver disease.
• Hereditary Thrombophilia 
Hereditary thrombophilia is a predisposition to developing harmful blood clots. These harmful blood clots most commonly form in the legs and can travel to the lungs.
• <a href="https://www.23andme.com/topics/health-predispositions/late-onset-alzheimers/">Late-Onset Alzheimer’s Disease</a> 
Alzheimer’s disease is characterized by memory loss, cognitive decline and personality changes. This report identifies the status of a variant in the APOE gene associated with developing late-onset Alzheimer’s disease.
• <a href="https://www.23andme.com/topics/health-predispositions/parkinsons-disease/">Parkinson’s Disease</a> 
Parkinson’s disease is characterized by problems with movement, tremor and muscle stiffness. This report includes two genetic variants associated with a risk factor for Parkinson’s disease.
</div>
The decision on these reports came through the FDA’s de novo classification process. This is a regulatory pathway for first-of-its-kind medical devices that the FDA considers low to moderate risk, but have special controls to ensure safety, effectiveness and accuracy. 
For this authorization, 23andMe conducted extensive validation studies for accuracy and user comprehension that met FDA standards.
23andMe is now the only company authorized by the FDA to provide personal genetic health risk reports without a prescription. These reports provide individuals with information about genetic variants that could increase their personal risk for certain diseases. 
The company will release its first set of new genetic health risk reports including late-onset Alzheimer’s disease, Parkinson’s disease, hereditary thrombophilia, alpha-1 antitrypsin deficiency, and a new carrier status report for Gaucher’s disease in April, with additional reports to follow. New 23andMe Health + Ancestry customers in the U.S. will have access to these reports. Current 23andMe customers will be notified directly on their eligibility for receiving the new genetic health risk reports.
In addition to the authorization, the FDA indicated it will create something called a “Class II Exemption for substantially equivalent reports.” This opens a pathway for 23andMe to release additional genetic health risk reports that meet this “substantially equivalent” designation.
Prior to this most recent authorization, the FDA authorized  23andMe in February of 2015 to market the first direct-to-consumer genetic test for Bloom Syndrome under the de novo pathway. This in turn enabled the company to bring back more than 35 carrier status reports which identify inherited recessive variants. 
Genetic health risk reports, by contrast, convey personal health risk, necessitating a separate FDA review classification pathway. In its decision this week, the FDA specifically authorized 23andMe to market genetic health risk reports through the de novo classification pathway including: alpha-1 antitrypsin deficiency (AATD), celiac disease, G6PD deficiency, hereditary thrombophilia which is associated with blood clotting, early-onset primary dystonia, hereditary hemochromatosis, which is associated with iron overload in the blood, among other reports. 
<hr />
Answers to some of your questions:
<ul>
<li>
Does this mean 23andMe will bring back all the health reports they previously offered to customers? 
We will continue to work with the FDA to offer additional genetic health risk reports to our customers — we can’t speculate on specific new reports or the timing of those reports.</li>
<li>What is a &#8216;genetic health risk&#8217; report? 
A genetic health risk report offers customers the opportunity to see whether they have genetic variants that affect their chances of developing certain health conditions. Some variants can add to a person’s risk, some can lower their risk and others have no effect. Not everyone with a risk variant will develop the health condition and not having a genetic variant does not eliminate the risk of the health condition.</li>
<li>
What does it mean to be granted a de novo authorization? 
The Food and Drug Administration Modernization Act of 1997 (FDAMA) added the de novo classification option, which provides an alternate pathway to classify novel devices of low to moderate risk. The de novo process is used by the FDA to grant marketing authorization for devices that are new and unlike any other on the market. In addition de novo marketing authorization means that 23andMe met the FDA’s premarket requirements to demonstrate the following: accuracy, validity and user comprehension.</li>
<li>
When will you be getting clearance for the other health reports? 
We do not know, but we will continue to work in close collaboration with the FDA, on additional submissions for other genetic health risk reports.</li>
<li>Is this the first time that the FDA has made this type of authorization for a genetic health report? 
In February of 2015 we obtained the first ever FDA authorization for direct-to-consumer genetic testing covering our Autosomal Recessive Carrier Reports which inform people of genetic risks they may pass onto to their children.  This new FDA authorization is the first for any direct-to-consumer test which informs individuals about their own genetic health risks..   </li>
<li>
Will this speed up the process for authorization of other reports? 
23andMe has now established a regulatory pathway with FDA and designed and validated its products to meet those standards.</li>
</ul>

Good News About Health Reports

Each expectant parent brings their own unique mix of emotions to pregnancy, but all of them share the same hope of simply having a healthy and happy baby.<img loading="lazy" decoding="async" class="alignright wp-image-25215" src="https://blog-api.23andme.com/wp-content/uploads/2017/03/9780374160784-200x300.jpeg" alt="" width="258" height="387" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/03/9780374160784-200x300.jpeg 200w, https://blogcms.23andme.com/wp-content/uploads/2017/03/9780374160784-587x880.jpeg 587w, https://blogcms.23andme.com/wp-content/uploads/2017/03/9780374160784.jpeg 667w" sizes="auto, (max-width: 258px) 100vw, 258px" />


Couples go through a slew of tests — from blood draws, to ultrasounds and sometimes amniocentesis. Increasingly, they are also turning to genetic testing. These tests include new noninvasive prenatal genetic sequencing to detect abnormalities in the fetus earlier than traditional tests, and even postpartum sequencing for newborns.
While the intent is to ensure the health of their child, these tests can sometimes complicate decisions for prospective parents, and ramp up their anxiety as they determine how best to handle this information.


In the thoughtful book, “<a href="http://us.macmillan.com/thegenemachine/bonnierochman/9780374160784/">The Gene Machine: How Genetic Technologies Are Changing the Way We Have Kids — and the Kids We Have</a>,” journalist Bonnie Rochman tackles some of the thorny issues that arise with these tests.
“(The book) is a road map that helps parents navigate the promise and peril of having children in an age of genetic tests and interventions,” Bonnie said recently.<img loading="lazy" decoding="async" class="alignright size-full wp-image-25216" src="https://blog-api.23andme.com/wp-content/uploads/2017/03/e7455a_50325df2f84f4925b8b59cae29cd9b21mv2.jpeg" alt="" width="258" height="255" />


In some ways the questions that arise from newer genetic testing are no different from those that have arisen in the past, they just come up sooner and add — in both amount and detail — to the information that can be learned.


As Bonnie told the<a href="https://www.washingtonpost.com/news/parenting/wp/2017/02/28/parenting-in-the-age-of-genetic-testing-from-the-author-of-the-gene-machine/?tid=ss_tw&#038;utm_term=.43740dbfa724"> Washington Pos</a>t recently:
“It’s really important to know who you are as a person, what your mindset is, what you think about information. Do you find lots of information empowering, or does it overwhelm you?”
We spoke with Bonnie about these and other issues that arise and what parents might consider before embarking in some of these types of testing.
23andMe’s Blog: Do you think most prospective parents have these issues on their radar at all?


Bonnie: In dozens of interviews, so many parents told me that they jumped into genetic testing — no matter the specific test — without really understanding what they were getting into. They don’t have a clear picture of what they’re being tested for, what the results could mean, or what they’d do if a problem is detected. I think it’s human nature to err toward optimism, and the moms and dads I spoke with bear this out: they assume they’re going to get reassuring results. Of course, not everyone does. And when the unexpected happens, parents say they feel blindsided.


23andMe’s Blog: What suggestions do you have for parents considering using one of these tests?


Bonnie: Genetic counselors are really invaluable in helping parents decide whether testing in general — and which tests in particular — is right for them. As testing grows more complex and comprehensive, it can help to have someone in the know to walk moms and dads through the pros and cons of various tests. Doctors often don’t have the time to do this, but this sort of hand-holding is genetic counselors&#8217; area of expertise.


23andMe’s Blog: For some time, we have had the ability to use ultrasound and obtain a karyotype (a picture of the chromosomes) from procedures like amniocentesis, and CVS to tell us about potential issues for our unborn children. Why are the current genetic tests thought of differently than those prenatal tests?


Bonnie: 
Genetic tests are increasingly relying upon sequencing technology, which allows them to dive deeper into our genome, our genetic code. Some of these tests can help detect Down syndrome in the first trimester, much sooner than was previously possible. So that’s a really significant change. And other deep-dive tests, like chromosomal microarray, can uncover tiny deletions or duplications of DNA that are much smaller than something like the entire extra copy of a chromosome that characterizes Down syndrome. It’s not uncommon for doctors to be uncertain about the significance of these small genetic errors. Do they matter? Are they associated with one genetic condition or another? Our ability to deploy all this amazing genetic and genomic technology has outpaced our understanding about what much of the data means. In many cases, even the experts don’t know. This can create a lot of confusion for parents. 


23andMe’s Blog: You mention the gene editing technique known as CRISPR in several places in the book. This highlights both the speed of change in technology, and some pretty basic dilemmas in using this technology. Where do you think all of this is headed?


Bonnie: First off, it’s important to emphasize the polygenic nature of DNA and its influence on traits, which means that in so many situations, it’s a confluence of genes plus environment that determine how traits are expressed. It’s not as if there’s a Baby Einstein gene or a single gene that codes for a killer jumpshot on the basketball court. So we can’t test to determine which embryo is destined to be the next Neil deGrasse Tyson or Steph Curry. As for gene editing, researchers are focused on using CRISPR’s gene modification tools to address disease. While that’s a valid — and valiant — effort, it’s inevitable that some of these technological advances may be co-opted for non-disease-related reasons. For example, there is ongoing work to find a CRISPR-related gene modification to address Duchenne muscular dystrophy (DMD), which affects mostly boys, weakening muscles and leading to death often by the mid-20s. Say we figure out how to “fix” or treat the gene defect that causes DMD. It doesn’t take a huge leap of imagination to envision a world in which some “mad scientists” would say: Hey, we know how to jumpstart muscle growth. Can we do this in athletes?

The Gene Machine

It’s not quite waffles and paella, but it appears that Neanderthals<img loading="lazy" decoding="async" class="wp-image-421 size-full alignright" src="http://35.88.189.111/wp-content/uploads/2008/07/neanderthaler2.jpg" alt="" width="400" height="266" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/07/neanderthaler2.jpg 400w, https://blogcms.23andme.com/wp-content/uploads/2008/07/neanderthaler2-300x200.jpg 300w" sizes="auto, (max-width: 400px) 100vw, 400px" /> were omnivores who adapted to eating whatever was available to them in the regions where they lived.
DNA samples extracted from ancient plaque on teeth found in a cave in Belgium and from those found at a site in Northern Spain indicate that Neanderthals had distinct regional cuisines.
In the area that is now Belgium, Neanderthals ate a lot of meat—woolly rhinos and wild sheep—while those in Spain were vegetarians, living off pine nuts, mushrooms, tree bark, and forest moss.
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">
<h2>Find Your Inner Neanderthal<img loading="lazy" decoding="async" class="aligncenter wp-image-24217 size-full" src="http://35.88.189.111/wp-content/uploads/2016/08/Neanderthal-Report-Home.png" alt="" width="2534" height="1396" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/08/Neanderthal-Report-Home.png 2534w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Neanderthal-Report-Home-300x165.png 300w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Neanderthal-Report-Home-768x423.png 768w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Neanderthal-Report-Home-1024x564.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Neanderthal-Report-Home-880x485.png 880w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Neanderthal-Report-Home-1180x650.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Neanderthal-Report-Home-271x149.png 271w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Neanderthal-Report-Home-372x204.png 372w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Neanderthal-Report-Home-574x315.png 574w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Neanderthal-Report-Home-980x539.png 980w" sizes="auto, (max-width: 2534px) 100vw, 2534px" /></h2>
23andMe reports to customers the number of Neanderthal variants they carry, how that compares with other customers, and traits those variants are associated with, such as back hair and height.
</div>
<h2>Neanderthal Microbiome</h2>
Even more interesting than what was on the menu is the additional information scientists gleaned from the first microbiome sequence of an extinct species. Our microbiome is the collection of bacteria and microbes on and in our bodies that we depend on for survival. They can also tell us a lot about health, and researchers have, over the last decade, begun using DNA extracted from calcified plaque on teeth to help piece together the lives of our ancient ancestors. 
The most recent work is the first such successful effort focused on Neanderthals.
<h2>Medicinal Practices</h2>
In addition to learning about what our ancient cousins ate, the researchers also found signs of possible primitive medicinal practices. In one case, from an individual in Spain who appeared to have had a dental abscess and some sort of gastrointestinal parasite, the researchers found traces of the bark from a poplar tree, which has salicylic acid, a natural painkiller used in aspirin, as well as material that included Penicillium mold.
According to researchers, the data offer genetic evidence regarding not only diet but also Neanderthal behavior and the diseases they struggled with. 
The study also offered some exciting twists to speculation around the nature of Neanderthal and human interactions.
<h2>Neanderthal and Modern Human Interactions</h2>
Neanderthals went extinct about 40,000 years ago in Europe, but traces remain in the DNA of people with non-African ancestry. That intermixing likely offered humans an evolutionary advantage to survive as they migrated outside of Africa. But why modern humans thrived, and Neanderthals disappeared from the earth is still not fully understood.
The biggest spit-take of this most recent study had to do with … spit. One researcher said that genetic evidence of an oral microbe in the mouths of these Neanderthals — also found in the mouths of modern humans — suggested that this bacteria was transmitted between Neanderthals and humans, implying “that these interactions were much friendlier and much more intimate than anybody …  imagined.”
“If you’re swapping spit between species, there’s kissing going on, or at least food sharing,” co-author Laura Weyrich told the journal<a href="https://www.nature.com/news/neanderthal-tooth-plaque-hints-at-meals-and-kisses-1.21593"> Nature</a>.
While Neanderthals and humans may have kissed cousins, others were less willing to<a href="https://www.theatlantic.com/science/archive/2017/03/neanderthal-dental-plaque-shows-what-a-paleo-diet-really-looks-like/518949/"> draw those conclusions</a>. That doesn’t mean that the science wasn’t solid&#8211;just that it didn’t indicate how the oral microbe went from modern humans to Neanderthals. 
Much like the study of ancient human and Neanderthal DNA, the study of ancient microbiomes has added to what we know about human history. Historical changes such as the rise of agriculture and the industrialization age can be plotted in changes in the human microbiome. The information we glean from this research could also help us understand how changes in the microbiome influence human health.

The Neanderthal Cookbook

In the article <a href="https://www.nytimes.com/2017/01/11/magazine/neanderthals-were-people-too.html?_r=0">Neanderthals Were People Too</a>, Jon Mooallem describes an electric moment where he felt a visceral connection to our long lost human cousins.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-25260" src="https://blog-api.23andme.com/wp-content/uploads/2017/01/EGrhX_Flint-Nana-Kennis-Kennis-reconstructions-of-the-Gibraltar-12-skulls-Photo-S.Finlayson-212x300.jpg" alt="" width="212" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/01/EGrhX_Flint-Nana-Kennis-Kennis-reconstructions-of-the-Gibraltar-12-skulls-Photo-S.Finlayson-212x300.jpg 212w, https://blogcms.23andme.com/wp-content/uploads/2017/01/EGrhX_Flint-Nana-Kennis-Kennis-reconstructions-of-the-Gibraltar-12-skulls-Photo-S.Finlayson-768x1084.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2017/01/EGrhX_Flint-Nana-Kennis-Kennis-reconstructions-of-the-Gibraltar-12-skulls-Photo-S.Finlayson-725x1024.jpg 725w, https://blogcms.23andme.com/wp-content/uploads/2017/01/EGrhX_Flint-Nana-Kennis-Kennis-reconstructions-of-the-Gibraltar-12-skulls-Photo-S.Finlayson-623x880.jpg 623w, https://blogcms.23andme.com/wp-content/uploads/2017/01/EGrhX_Flint-Nana-Kennis-Kennis-reconstructions-of-the-Gibraltar-12-skulls-Photo-S.Finlayson-836x1180.jpg 836w, https://blogcms.23andme.com/wp-content/uploads/2017/01/EGrhX_Flint-Nana-Kennis-Kennis-reconstructions-of-the-Gibraltar-12-skulls-Photo-S.Finlayson-scaled.jpg 1813w" sizes="auto, (max-width: 212px) 100vw, 212px" />
Watching a group of archeologist painstakingly excavate a small hearth in a cave in Gibraltar, Mooallen is suddenly struck by what he’s seeing. The bits of charcoal, the fire stained ground where embers are scattered and the smoke stained walls where the cinders from the fire had pushed up against the rock wall.


“Suddenly, it struck me — though it should have earlier — that what we were looking at were the remnants of a single event: a specific fire, on a specific night, made by specific Neanderthals. Maybe this won’t sound that profound, but it snapped that prehistoric abstraction into focus. This wasn’t just a “hearth,” I realized; it was a campfire.”


<h6>The Connection</h6>

He was looking at the remains of a fire that warmed these human cousins of ours on a night 50,000 years ago, and he felt connected.
Whether we feel it or not, most humans living today are connected to Neanderthals.
All non-Africans have between one and three percent Neanderthal DNA, a remnant of interbreeding as modern humans migrated out of Africa and met Neanderthals for the first time. And we likely carry remnants of other hominids in our DNA, such as the Denisovans.
Perhaps it’s that genetic connection that fuels our fascination with Neanderthal, or maybe it’s that what we learn is informing us all more about what it means to be human.
We know that we owe much to the Neanderthals. It’s likely that interbreeding with Neanderthals helped give humans an evolutionary advantage to adapt — beneficial immune response and blood clotting for instance — but it also left us with a subtle risk for certain diseases, according to <a href="http://www.sciencemag.org/news/2016/02/our-hidden-neandertal-dna-may-increase-risk-allergies-depression">research published early last year</a>.

<h6>The Neanderthal Advantage</h6>

Vanderbilt University&#8217;s John Anthony Capra, was the lead author of that study, which we previously wrote about in the <a href="https://blog.23andme.com/news/the-lasting-legacy-of-neanderthals/">blog</a>. Capra recently spoke with <a href="https://www.nytimes.com/2017/01/20/science/john-anthony-capra-neanderthals-dna-humans.html">The New York Times</a> about that research.
Over time humans <a href="https://blog.23andme.com/23andme-research/new-neanderthal-research/">purged</a> all but the last vestiges of Neanderthal DNA — but some of what remains, even some of what previously could have been beneficial, is deleterious, according to Capra.


“What we’ve been finding is that Neanderthal DNA has a subtle influence on risk for disease,” Capra said.


For the research, Capra and his team looked at electronic health records from 50,000 individuals and found associations with Neanderthal DNA and immune response, blood clotting, and depression.
These findings and others indicate that Neanderthals were much more like us than we previously thought.


“We tend to think of them as dumb and brutish,” Capra said. “There’s no reason to believe that. Maybe those of us of European heritage should be thinking, “Let’s improve their standing in the popular imagination. They’re our ancestors, too.’”

The Neanderthal Within

Editor’s note: We first wrote about the Christmas Tree genome a few years ago, but it&#8217;s worth another <img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-17056" src="https://blog-api.23andme.com/wp-content/uploads/2012/12/ChristmasTree-200x200.jpg" alt="Chritstmas Tree" width="200" height="200" />look.  There is some real interesting science around sequencing various conifers, like the <a href="http://www.genetics.org/content/196/3/875">Loblolly pine</a>, the <a href="https://www.sciencedaily.com/releases/2013/05/130522131039.htm">Norway spruce</a>, and  California sugar pine, which is endangered. While pines only have 12 chromosomes, the genomes of these massive highly evolved cone-bearing trees are huge. Understanding their genetic structure, and how these majestic trees, which have been around for hundreds of millions of years, survived through millennia is important. So we thought it worthwhile to run again for the holidays. Cheers!
If you could just get your Christmas tree to spit into a tube and extract some DNA, you might learn a lot about your holiday decoration.
For starters, you might be able to tell where it originated. Plant genetics, like animal genetics, is influenced by geography. A team of Douglas fir tree researchers, under the direction of Andrew Eckert and David Neale from the University of California, Davis, have discovered <a href="http://www.genetics.org/content/182/4/1289" target="_blank" rel="noopener noreferrer">seven genetic markers</a> with frequencies that vary with location across the Pacific Northwest. These markers were found in genes associated with cold-hardiness.
The implication is that northern Douglas fir trees, exposed to blustery winter weather, evolved to be genetically different from their southern-dwelling cousins. Their find, although not surprising, is interesting; science is now beginning to understand exactly how genetic variation leads to the cold-hardy trees of the north.
The real cutting edge of Christmas tree research, however, lies with cut trees and the mess that they make. Anyone with firsthand experience with a fresh-cut Christmas tree knows that shed needles are the price paid for that fresh piney scent. With an ever-earlier start to the Christmas season, needle retention research represents an opportunity; a tree which could retain its needles from Thanksgiving until well past New Year’s would be a commercial hit.
Gary Chastagner of the Washington State University, sometimes referred to as “Mr. Christmas Tree,” is leading a scientific quest for the holy grail of Christmas trees: better needle retention. The $1.3 million dollar project will use RNA sequencing and the “Denmark Needle Retention Scale” (which Chastagner developed with Danish tree scientists) to look for genetic associations.
Mr. Christmas Tree’s undertaking is an ambitious one, but could herald great news for those of us who prefer their pine needles on the Christmas tree and not in the vacuum cleaner. My next request? A tree which grows its own lights.

O Christmas Tree

For fans of HBO’s hit show Silicon Valley, you may be familiar with this formula for innovation – put a bunch of smart
<div id="attachment_24451" style="width: 210px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-24451" class="size-thumbnail wp-image-24451" src="https://blog-api.23andme.com/wp-content/uploads/2016/10/IMG_4099-200x200.jpg" alt="Mike Polcari, vice president and chief architect, laying out the schedule on the first day of the hackathon." width="200" height="200" />Mike Polcari, a 23andMe vice president and its chief architect, lays out the schedule on the first day of the hackathon.</div>
people together in a room and give them 48 hours, with the freedom to pursue their own ideas, and raise the stakes with a little friendly competition.


This formula is known as a “hackathon”– focused design sprints that involve engineers, scientists, designers, product managers and others. It’s an event we’ve embraced annually at 23andMe, where the hackathons have helped spawn new products and novel ideas.
“My hope with the hackathon was manifold – to foster innovation within the building, get everyone thinking about exciting opportunities to deliver new ideas to the customer, to get people to break out of their routine, and to get them to collaborate with different people on something they’re passionate about,” said Mike Polcari, our VP, Chief Architect.


This year’s 23andMe hackathon didn’t disappoint, with groups developing everything from a simple way to track the progression of Parkinson&#8217;s by using a patient’s own phone, to creating an online tool to see what traits you and your partner might pass onto your baby, to integrating 23andMe’s phenotypic data collection into <img loading="lazy" decoding="async" class="alignright wp-image-23719 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2016/03/23andMe-ResearchKit-147x300.png" alt="23andMe-ResearchKit" width="147" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/03/23andMe-ResearchKit-147x300.png 147w, https://blogcms.23andme.com/wp-content/uploads/2016/03/23andMe-ResearchKit-768x1569.png 768w, https://blogcms.23andme.com/wp-content/uploads/2016/03/23andMe-ResearchKit-501x1024.png 501w, https://blogcms.23andme.com/wp-content/uploads/2016/03/23andMe-ResearchKit-431x880.png 431w, https://blogcms.23andme.com/wp-content/uploads/2016/03/23andMe-ResearchKit-578x1180.png 578w, https://blogcms.23andme.com/wp-content/uploads/2016/03/23andMe-ResearchKit.png 863w" sizes="auto, (max-width: 147px) 100vw, 147px" /> Apple’s open source ResearchKit ®framework.


Earlier this month, 23andMe-ers from across the company assembled into teams centered on a variety of ideas. Some let out their inner artists, focusing on ways to artistically represent genetic information. Others proposed ways to take a deeper dive into 23andMe’s existing database, finding opportunities to offer customers more information with results.


While some got down and dirty with the microbes found in your mouth (did you know that as much as 10 percent of the DNA found in your saliva isn&#8217;t human!?), all of the teams shared the same goal, to create something new and useful for 23andMe customers.
For most participants, this was a chance to push aside some of their day-to-day workload and to develop long-time passion projects.
“I’ve had this idea for a while and felt that the hackathon was the right opportunity to get some momentum and bring the idea to fruition,” said Olga Sazonova, a 23andMe computational biologist.


Olga worked on an idea to extract microbiome data from saliva. Her idea would then use the information gleaned from the microbiome data to add to what customers can already learn about themselves from the DNA that is extracted from their spit.
Another scientist, who worked with a team on a hack he called “super color sensor,” meant to detect if a customer could see small variations in color shades, said he’d been thinking about this idea even before his time at 23andMe. The freedom of the hackathon gave him an opportunity to see if he could bring this idea to life.
<div id="attachment_24453" style="width: 210px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-24453" class="wp-image-24453 size-thumbnail" src="https://blog-api.23andme.com/wp-content/uploads/2016/10/IMG_4129-200x200.jpg" alt="img_4129" width="200" height="200" />As part of the two-day hackathon, a team working on a new app for educators map out ideas and the flow of the design on post-it notes.</div>
Whether the teams were successful or not, the process was also about collectively energizing the company, so that when everyone goes back to their routine work they can apply that same level of passion and focus.
Although the winning prize of a fancy dinner in downtown Mountain View certainly enticed our hackers to bring their projects to life over this short window of time (and a company-wide rooftop Happy Hour at the conclusion didn’t hurt either), the real prize is producing something that not only the employees at 23andMe can explore, but one that can help our customers in some way.


This year, three of the 24 different projects rose to the top: one that further integrates 23andMe’s collection of data for research into Apple’s open source ResearchKit* framework; another one focused on diet; and the third one that includes an interactive map of the human body to allow customers to see parts of the body for which 23andMe offers reports.
Reflecting on all the different ideas developed in this year’s hackathon, Mike said he was impressed.
“People found that having this kind of ownership over the end product was engaging, motivating, and exhausting,” he said. “But also the most fun they’ve had. There’s something magical about offering people the autonomy, creative license and control that makes our hackathon an unparalleled opportunity for real innovation.”

&nbsp;

*ResearchKit is a registered trademark of Apple Inc.

Hacking Away at Health and Ancestry

As part of a series on cutting edge women, The Today Show featured Anne Wojcicki, 23andMe&#8217;s CEO and co-founder.


The NBC crew followed Anne as she hustled through a typical day, juggling family life, and work meetings. The crew also got a glimpse of 23andMe&#8217;s Therapeutics lab, and sat down with her to talk about her vision for the future.


Check out the segment.

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23andMe’s CEO Featured On The Today Show

<div id="attachment_24377" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-24377" class="wp-image-24377 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2016/10/Gov.-Sandoval-300x264.jpg" alt="gov-sandoval" width="300" height="264" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/10/Gov.-Sandoval-300x264.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2016/10/Gov.-Sandoval-768x675.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/10/Gov.-Sandoval-1024x901.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2016/10/Gov.-Sandoval-880x774.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2016/10/Gov.-Sandoval-1180x1038.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2016/10/Gov.-Sandoval.jpg 1244w" sizes="auto, (max-width: 300px) 100vw, 300px" />Nevada Gov. Brian Sandoval, center, on the day the study was announced.</div>
If you’d like to know whether people want access to their genetic information and will participate in research, just go to Nevada.


Gov. Brian Sandoval was one of the first to sign up, and in less than a day more 5,000 of his fellow “Silver State” residents joined him to be part of an <a href="http://www.rgj.com/story/news/2016/09/16/nevada-dna-study-expanded-10000/90519458/">  innovative population health study</a> being conducted by Renown Health and the Desert Research Institute and powered by 23andMe.
&#8220;Surpassing an ambitious enrollment goal of 5000 people in less than 24 hours is unheard of in research studies,&#8221; said Anne Wojcicki, 23andMe’s CEO and cofounder.


The pilot study – which kicked off in September and was expanded to 10,000 residents to meet the huge demand – offers participants access to their 23andMe results at no costs. Researchers will then use health and environmental information with genetic and phenotypic data from study participants to look at ways to improve health in the state.
“This is a (project) that other communities can learn from,” said Dr. Anthony Slonim, president and CEO of Renown Health.
The hope is that the study will enable researchers to build predictive models that could in turn be used to learn more about public health issues in the state, and ultimately improve the health of Nevadans.
This study uses a service developed by 23andMe called<a href="https://researchers.23andme.org/"> Genotyping Services for Research (GSR)</a>, a platform that gives researchers a simple end-to-end solution to incorporate genetic information into their studies regardless of their expertise in genetics.


“We choose the Genotyping Services for Research platform because it&#8217;s the only platform that enables us to give something back to the research participants.  Participant engagement is key to the success of this project.  
On the  research side we don’t have to build a CLIA-certified lab or other infrastructure, to do our own work,” said Joseph Grzymski, Ph.D., the principal investigator of the study. “So the merging of the two is extremely powerful.”
Beyond that, 23andMe’s GSR platform allows researchers to return results to people who are participating in these studies, said Ruby Gadelrab, 23andMe’s vice president of commercial marketing.
“Typically research studies don’t do that,” she said. “GSR is currently the only genotyping service that enables researchers to give something back to participants in the form of the 23andMe customer experience.”


Check out the video to learn more about this promising new study.
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News — Page 15