With one very important exception Tibetans and their Han Chinese neighbors are genetically very similar, but that one difference makes all the difference.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2010/07/tibetanwoman-228x300.jpg" alt="tibetanwoman" class="alignright size-medium wp-image-6826" width="228" height="300" />
In the breathlessly thin air of the Himalayas, Tibetans have a genetic variant that makes them keenly well adapted to living on the “roof of the world.” And <a href="https://www.nature.com/nature/journal/vaop/ncurrent/full/nature13408.html" target="_blank" rel="noopener noreferrer">fascinating new findings by researchers at UC Berkeley</a> indicate that Tibetans can thank an ancient human cousin for that advantage.
<h6>Ancient Human Cousins</h6>
There is much about this research that is exciting for us here at 23andMe. (We have a thing about <a href="https://blog.23andme.com/tag/neanderthal/" target="_blank" rel="noopener noreferrer">ancient humans</a>.) But the findings are especially thrilling because this is the first time scientists have found a specific trait inherited from ancient humans that is so clearly vital for a modern human population to thrive.
The ancient humans in question are the <a href="https://blog.23andme.com/news/analysis-of-ancient-dna-suggests-the-existence-of-previously-unknown-type-of-extinct-human-ancestor/" target="_blank" rel="noopener noreferrer">Denisovans</a>, who scientists only became aware of four years ago after sequencing DNA from bone fragments discovered in <a href="https://en.wikipedia.org/wiki/Denisova_Cave" target="_blank" rel="noopener noreferrer">a cave</a> in the Altai Mountains in Siberia. 

<div id="attachment_6209" style="width: 209px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-6209" src="https://blog-api.23andme.com/wp-content/uploads/2010/03/6Denisova_cave-199x300.jpg" alt="The cave in Siberia where the Denisova bone fragments were found." class="size-medium wp-image-6209" width="199" height="300" />The cave in Siberia where the Denisova bone fragments were found.</div>
<h6>Hybrid Vigor</h6>
As modern humans migrated out of Africa about 100,000 years ago, we intermingled with archaic humans such as the Neanderthals and Denisovans, and possibly other not-yet identified human cousins. <a href="https://blog.23andme.com/recommended-reading/a-gift-to-humanity/" target="_blank" rel="noopener noreferrer">Neanderthals</a> and the Denisovans went extinct about 30,000 years ago but their DNA lives on in modern humans. What role their DNA played in our evolution is difficult to discern.

There are many theories. For instance, Peter Parham, a geneticist at Stanford University School of Medicine, suggested a few years ago that that intermixing gave modern humans a sort of <a href="https://www.nature.com/news/2011/110809/full/476136a.html" target="_blank" rel="noopener noreferrer">“hybrid vigor.”</a>

<h6>Disease Resistance Question</h6>
It could be that interbreeding with Neanderthals and Denisovans also gave humans an evolutionary shortcut. Allowing them to quickly adapt to new environments as they spread across the globe. Indeed in the case of Neanderthals, there is some evidence that their DNA may have contributed to modern humans&#8217; resistance to certain diseases.

But it <a href="https://www.nature.com/news/2011/110809/full/476136a.html" target="_blank" rel="noopener noreferrer">cuts both ways.</a> There is evidence suggesting that in some cases Neanderthal DNA, which helped humans adapt, may now contribute to risks for certain diseases like diabetes and Crohn’s.

“Now that we can estimate the probability that a particular genetic variant arose from Neanderthals, we can begin to understand how that inherited DNA affects us,” said Harvard Medical School geneticist David Reich, earlier this year after publishing a paper on Neanderthal genetic contributions to modern humans in the journal Nature.

<h6>The Denisovans</h6>
The same statement could apply to Denisovans. Remnants of their DNA is found in people with ancestry from areas of Oceania, Papua New Guinea and parts of Asia. Now this study has made an important and clear link between Tibetans’ adaption to high altitude and the Denisovans.

Eric Durand, a senior computational biologist at 23andMe, said the study was a rare case of an informed hunch panning out perfectly for the researchers. Eric previously developed statistical methods to look at the connection between Neanderthal and Denisovans and modern humans. He said the researchers at UC Berkeley discovered a few years ago that it was a variant in the EPAS1 gene allowed Tibetans to thrive in the oxygen thin air on the Himalayan plain. The question for researchers was how did that variant get there.

<h6>EPAS1 and High Altitude</h6>
Looking at the haplotype structure around EPAS1, as well as the fact that the haplotype is extremely rare in Han Chinese, researchers struggled to explain the genetic adaptation. They thought that perhaps this special adaptation came from somewhere else.Maybe more appropriately stated, someone else. So researchers began comparing Tibetan genetic signatures with that of other populations.

Among those was the Denisovan sequence published by Svante Paabo. An evolutionary geneticist at the Max Planck Institute for Evolutionary Anthropology, Paabo is the first scientist to have sequenced the Neanderthal genome.

“It’s very satisfying to see that gene flow from Denisovans, an extinct group of archaic humans which we discovered only four years ago, is now found to have had important consequences for people living today,” Svante said recently.

Sometimes looking back can do more than just help scientists understand the past. It can also give them insight into the present.

23andMe Blog

23andMe Blog Team

Breathless Over New Finding Using Ancient DNA

By Kathy Hibbs, Chief Legal and Regulatory Officer, 23andMe


A few days ago the US Food and Drug Administration accepted for review 23andMe’s submission for a new 510 (k) application. This submission is for one health report, and <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg" alt="23andMe_Logo_blog" class="alignright size-medium wp-image-6586" 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" />is part of the FDA&#8217;s regulatory review of our health product.


Although the submission focuses on a single rare but serious inherited condition we report to customers – <a href="http://ghr.nlm.nih.gov/condition/bloom-syndrome" target="_blank" rel="noopener noreferrer">Bloom syndrome</a> – it is an important step in our work with the FDA in the coming months.
Once cleared, it will help 23andMe, and the FDA, establish the parameters for future submissions.
More importantly, for our customers, it marks a baseline on the accuracy and validity of the information we report back to them. The submission includes robust validation data covering major components of our product such as the genotyping chip, software and saliva kit.


While we are still in the very early stages of this regulatory review process, we remain committed to transparency and keeping our customers as informed as possible. This by no means is the end of the process even for this one condition. It is likely that 23andMe will hear back from the FDA regarding the material we gave to them, and, we in turn will have to respond to those questions as we move forward.
We are pleased to be moving forward with the FDA and committed to our company mission of empowering individuals with their genetic information.


If you would like to know more about the 510 (k) process, you can read more on the <a href="https://www.fda.gov/MedicalDevices/DeviceRegulationandGuidance/HowtoMarketYourDevice/PremarketSubmissions/PremarketNotification510k/default.htm" target="_blank" rel="noopener noreferrer">FDA’s website</a>.

Kathy Hibbs

Update On The Regulatory Review Process With The FDA

23andMe cofounder and CEO Anne Wojcicki took a few moments to talk to interviewer Hayley Goldbach at Stanford’s recent <a href="http://bigdata.stanford.edu/" target="_blank" rel="noopener noreferrer">Big Data in Biomedicine</a> conference.
The annual conference, which seems to get a little bigger each year, focuses on a sweet spot for 23andMe, the promise that the vast ocean of digital information can help drive breakthroughs in drug development and the personalization of medicine.
Here’s Anne’s interview. 
<iframe loading="lazy" width="560" height="315" src="//www.youtube.com/embed/zTgqieMLrl8" frameborder="0" allowfullscreen="allowfullscreen"></iframe>

Anne Wojcicki Interview At Big Data Conference

23andMe is a big fan of the exhibit <img loading="lazy" decoding="async" class="alignright size-full wp-image-20848" src="https://blog-api.23andme.com/wp-content/uploads/2014/04/Annimated-Genome-Exhibit.jpg" alt="Annimated Genome Exhibit" width="218" height="137" />
Today, on DNA Day, the museum is unveiling The <a href="http://unlockinglifescode.org/learn/the-animated-genome" target="_blank" rel="noopener noreferrer">Animated Genome</a> on the “Genome: Unlocking Life’s Code” website (<a href="http://unlockinglifescode.org/explore">unlockinglifescode.org</a>). The five-minute feature is meant to both inspire and educate, and adds to the long list of great <a href="http://unlockinglifescode.org/learn/resources-teachers">educational resources</a> that are part of the exhibit.
More than 1.6 million people have already seen the exhibit itself since it open last June. Genome: Unlocking Life’s Code also included contributions of other private foundations and companies including 23andMe. Even a few 23andMe customers shared their own stories about DNA testing for use in the exhibit.

Animated Genome Film Unveiled By The Smithsonian

Writing clearly about something complicated like genetics isn’t easy, and doing it with a little humor is harder still. But that’s just what the author and illustrator Katie McKissick, does consistently in her neat little book called “What’s in Your Genes?”<img loading="lazy" decoding="async" class="alignright size-medium wp-image-20777" alt="whatsinyourgenes" src="https://blog-api.23andme.com/wp-content/uploads/2014/04/whatsinyourgenes-195x300.jpg" width="195" height="300" />
Known by her nom de plume, Beatrice the Biologist, Katie’s blog <a href="http://blogs.scientificamerican.com/symbiartic/">Symbiartic</a> is also a consistent go-to resource for what’s interesting in science.
<h6>A Primer on Genetics</h6>
Her book hits a sweet spot for us here at 23andMe, where we’re constantly trying to figure out the best way to <a href="https://www.23andme.com/gen101/">communicate complicated science</a>. Katie breaks down the As,Cs,Ts and Gs of DNA and puts them into a readable and informative primer on genetics. She’s also pretty enamored in making fun visuals, which are sprinkled generously throughout the book. (Here’s her list of favorite science comics.) Put together this all makes for both easy to understand and fun reading. In the book, Katie covers a lot, from traits and disease to sequencing. And she does it with flair.
People generally understand how critical their own genetic information is in managing their health, but polls show that in general people are about fuzzy about the details of the sciences, so knowing the basics is important.
<h6>Genetic Literacy</h6>
A lot still could be done to improve the level of genetic literacy. This book goes a long way at explaining the basics but also some pretty important topics like the ethical issues around genetic testing, legal questions around patenting of genes and the future of genetic research.
Katie also embraces the fun and wonder of genetic science. She explains how  to count the taste buds on a small section of your tongue to figure out if you’re a “supertaster.” And she&#8217;s clear in explaining how the “symphony” of genetic variants influence your height, intelligence, and personality.
“Let’s put it this way,” Katie writes in a section on the genetics of intelligence and personality.  “DNA may predict what you can do, but not what you will do.”
And to bring it home she quotes Dumbledore from the Harry Potter series, when he tells Harry:
“It is not our abilities that show what we truly are. It is our choices.”

A Primer on What’s In Your Genes?

Here at 23andMe we have an interest in all things Neanderthal, so when none other than Svante Paabo authored the book Neanderthal Man: In Search of Lost Genomes we had to check it out.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-20650" alt="Svante book cover" src="https://blog-api.23andme.com/wp-content/uploads/2014/03/Svante-book-cover-197x300.jpg" width="197" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2014/03/Svante-book-cover-197x300.jpg 197w, https://blogcms.23andme.com/wp-content/uploads/2014/03/Svante-book-cover.jpg 365w" sizes="auto, (max-width: 197px) 100vw, 197px" />


Professor Paabo, the director of evolutionary genetics at the<a href="http://www.mpg.de/eva-en?section=eb-evb-g"> Max Planck Institute for Evolutionary Anthropology</a> in Leipzig, Germany, was the first to decode the Neanderthal genome.
This book is the story of that Herculean effort.
Extracting ancient DNA isn’t as easy as they make it sound in Jurassic Park. Much of the book details the painstaking trial and error it took to figure out how to do so. Simply extracting the requisite amount of DNA from bones tens of thousands of years old often requires more than one bone sample. Finding samples of bones can take delicate negotiations with old guard museum curators or political hacks. And then there are the perennial problems of contamination, making getting an accurate sequence very difficult. Paabo’s feat was anything but easy.
If Paabo weren’t such a good storyteller, the book might have bogged down with descriptions of things like the different techniques of polymerase chain reaction, and all it takes to build a clean lab. But he’s a clever enough writer to to keep the reader’s attention with a fast-paced story and wonderful details.
<div id="attachment_20651" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-20651" class="size-medium wp-image-20651" alt="Max Planck Forscher Prof. Dr.Svante PÃ¤Ã¤bo entschlÃ¼sselt Neandertaler-Genom" src="https://blog-api.23andme.com/wp-content/uploads/2014/03/Image12-300x209.jpg" width="300" height="209" />Svante Paabo with a reconstructed Neandertal skull. (Copyright: Frank Vinken)</div>
One of the many great details is an odd scene played out at the Natural History Museum in London. While there looking for possible sources of ancient DNA, Paabo was utterly astonished to watch a curator lick an old bone to determine whether it had been coated in some kind of preservative or not. Paabo, who’d been in the midst of his struggle to overcome contamination in ancient samples, stared in disbelief and wondered how many other bones in the collection had been “checked” in this way.


For us here at 23andMe, we paid particular attention to another short scene Paabo describes at Cold Spring Harbor, involving one of our scientists.
It happened just days after Paabo’s groundbreaking announcement of the sequencing of the Neanderthal genome in 2010.
After he gave his talk, he described listening with complete delight to Cory McLean, then a doctorate student at Stanford and now a senior computational biologist at 23andMe, report on his work comparing human and ape genomes, looking specifically for regions where humans differed from other apes. Although the Neanderthal sequence had been published just days before, Cory had also included the Neanderthal genome in his analysis. Knowing the Neanderthal genome sequence in those regions helped to identify genome differences unique to modern humans versus those we share with Neanderthals.
<div id="attachment_20654" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-20654" class="size-medium wp-image-20654" alt="(Copyright: Johannes Krause, Neandertal group by Atelier Daynes, Paris, France. In: Museum of the Krapina Neanderthals, Krapina, Croatia. Project and realization of the Museum: Zeljko Kovacic and Jakov Radovcic.)" src="https://blog-api.23andme.com/wp-content/uploads/2014/03/Image21-300x199.jpg" width="300" height="199" />Copyright: Johannes Krause, Neandertal group by Atelier Daynes, Paris, France. In: Museum of the Krapina Neanderthals, Krapina, Croatia. Project and realization of the Museum: Zeljko Kovacic and Jakov Radovcic.</div>
“I was so emotional about what (Cory) had done that I had to stop myself from hugging him,” Paabo said. “As far as I know he was the first person who had put our genome to use in his research.”


The publication of the Neanderthal sequence is, as University of Wisconsin-Madison paleontologist John Hawks said, “an immense gift to humanity.”
This is because it allows us to see the story of the evolution of modern humans.


“The Neanderthal genome gives us a picture of ourselves, from the outside looking in,” Hawks said. “We can see, and now learn about the essential genetic changes that make us human – the things that made our emergence as a global species possible.”

A Gift To Humanity

We can’t tell you the breakout bands or best films from this year’s South By Southwest, but we can tell you that new ideas around digital health – including 23andMe’s use of big data to power research – drove a lot of the most interesting discussions on the interactive side of the festival.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-20629" alt="anne before interview copy" src="https://blog-api.23andme.com/wp-content/uploads/2014/03/anne-before-interview-copy-199x300.jpg" width="199" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2014/03/anne-before-interview-copy-199x300.jpg 199w, https://blogcms.23andme.com/wp-content/uploads/2014/03/anne-before-interview-copy-768x1155.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2014/03/anne-before-interview-copy-681x1024.jpg 681w, https://blogcms.23andme.com/wp-content/uploads/2014/03/anne-before-interview-copy-585x880.jpg 585w, https://blogcms.23andme.com/wp-content/uploads/2014/03/anne-before-interview-copy-784x1180.jpg 784w, https://blogcms.23andme.com/wp-content/uploads/2014/03/anne-before-interview-copy.jpg 1330w" sizes="auto, (max-width: 199px) 100vw, 199px" />
23andMe’s CEO and co-founder Anne Wojcicki delivered one of the more popular keynotes. While she tried to answer most of the questions directed to her through Twitter using the #AskAnne hashtag, she ran out of time quickly. So we went back through the more than 100 queries to answer the most frequently asked questions.
<h6>What about the FDA?</h6>
The biggest question, the one that’s been dominating our work over the last few months, asked by many on Twitter was summed up by Armin Molvai (@amolavi), who asked: “Can you share and update on what’s happening with the FDA?”
Back in November, the FDA ordered 23andMe to stop returning health results to new customers, pending completion of a regulatory process, that requires submitting applications that detail the validity of the testing and science behind health results returned to customers. How long that process will take is hard to say, but Anne made clear that 23andMe is still deeply invested in seeing it through.
“My main priority is a resolution with the FDA,” she<a href="https://venturebeat.com/2014/03/12/23andme-ceo-we-need-to-return-to-delivering-health-information/"> told Venture Beat</a> writer Christina Farr after her keynote. “We’re not going to switch gears and become an ancestry company, although that’s a huge market on its own. We need to return to delivering health information.”
<h6>Working through the Process</h6>
Knowing how the FDA process has changed what 23andMe can offer new customers, Melissa Green (@mgreenvml) asked on Twitter how that will impact the company’s ongoing research.
Anne’s message on that was that not only is the company continuing to do research, but 23andMe is also tackling new areas of study. 
<iframe loading="lazy" width="560" height="315" src="//www.youtube.com/embed/6A4wtpHZCQI" allowfullscreen="allowfullscreen" frameborder="0"></iframe>
“We have 650,000 people in our database and are being inundated with requests from academics and foreign partners,” she said. “We have more of this data than anyone else in the world.”
The mission of the company has always been about changing health care and empowering people with their genetic information. And 23andMe’s research is central to that mission, Anne said.
<h6>Research</h6>
With 23andMe people can learn about themselves while helping to power important genetic research. Most of our customers consent to research. Collectively those customers have answered more than 170 million survey questions that in turn helps fuel research that now extends to more than 230 different studies looking at 1,000 different conditions that span everything from Parkinson’s disease to motion sickness. That’s the kind of research that could not be accomplished using traditional methods
While many at the conference could easily grasp the power 23andMe’s big data to speed research, some others were concerned about privacy around that data and, “how (23andMe is) protecting this database?”
Anne’s response was that research is done using data that is made anonymous, that the company adheres to strict security protocols. And our research is overseen by an independent “Institutional Review Board” that objectively looks out for the interests of those who consent to research. In the end, Anne pointed out that customers can opt-out of research at any time, download their data and close their account.
“One of the reasons we went direct to consumer is so that you own the data,” she said. “And if you then want to share it that’s your right.”

More From SXSW #AskAnne

On Sunday you can listen in to 23andMe’s CEO and co-founder Anne Wojcicki as she delivers the keynote of the South-by-Southwest Interactive conference in Austin.<img loading="lazy" decoding="async" class="alignright size-full wp-image-17010" alt="23andMe-Anne-001" src="https://blog-api.23andme.com/wp-content/uploads/2012/12/23andMe-Anne-001.jpg" width="165" height="236" />
Her talk <a href="http://schedule.sxsw.com/2014/events/event_IAP995218">“The Future of Genetics in Our Everyday Lives”</a> will be streamed live <a href="http://www.sxsw.com/live" target="_blank" rel="noopener noreferrer">here</a>   at 2 p.m. Central Time or noon Pacific Time. Anne’s talk will include a discussion with the audience and she’ll be taking questions from Twitter using using #AskAnne.
This promises to be a lively discussion not just about 23andMe, but genetics, big data, research and healthcare. If you can’t tune in live, we’ll be updating this post with more details about her presentation after the event. Stay tuned.

23andMe Live From Austin

In honor of the <a href="http://traditions.cultural-china.com/features/horse/" target="_blank" rel="noopener noreferrer">Chinese New Year</a>, we’re taking one last look at the genetic milestones of 2013, with our 2013 year in review.
From a Supreme Court ruling on patenting genes, to Angelina Jolie’s bold revelations about her genetic risk for breast cancer, to the FDA ordering 23andMe to stop offering health results pending a regulatory review   – 2013, and the Year of The Snake was filled with notable news in genetics.
So take a look back at last year with us and prepare for another galloping year in the world of genetic science in this, the <a href="http://traditions.cultural-china.com/features/horse/" target="_blank" rel="noopener noreferrer">Year of The Horse.</a>
<img loading="lazy" decoding="async" class="alignnone size-full wp-image-20283" alt="012814_YearInReviewSocial" src="https://blog-api.23andme.com/wp-content/uploads/2014/01/012814_YearInReviewSocial.jpg" width="600" height="2173" srcset="https://blogcms.23andme.com/wp-content/uploads/2014/01/012814_YearInReviewSocial.jpg 600w, https://blogcms.23andme.com/wp-content/uploads/2014/01/012814_YearInReviewSocial-83x300.jpg 83w, https://blogcms.23andme.com/wp-content/uploads/2014/01/012814_YearInReviewSocial-283x1024.jpg 283w, https://blogcms.23andme.com/wp-content/uploads/2014/01/012814_YearInReviewSocial-243x880.jpg 243w, https://blogcms.23andme.com/wp-content/uploads/2014/01/012814_YearInReviewSocial-326x1180.jpg 326w" sizes="auto, (max-width: 600px) 100vw, 600px" />

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