We humans are incredibly adaptable, and the evidence for that is in our DNA.
We have survived and thrived around the world, even in<a href="https://www.theatlantic.com/science/archive/2015/09/how-people-living-at-earths-extremes-reveal-the-genomes-best-tricks/408001/"> extreme environments</a>, not just because of our intelligence and culture, but because of our biology.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-26216" src="https://blog-api.23andme.com/wp-content/uploads/2018/05/Bajau-300x184.jpg" alt="" width="300" height="184" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/05/Bajau-300x184.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2018/05/Bajau-768x471.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2018/05/Bajau-1024x628.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2018/05/Bajau-880x540.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2018/05/Bajau-1180x724.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2018/05/Bajau.jpg 1308w" sizes="auto, (max-width: 300px) 100vw, 300px" />
<h6>Adaptations</h6>
Early this year, a<a href="https://www.sciencedirect.com/science/article/pii/S0092867418303866?via%3Dihub"> study</a> of the Bajau — an ethnic Malay people who for a thousand years have lived in and around the ocean as so-called “Sea Nomads” — offers the latest example of how genetic adaptations have given some populations the advantage they need to survive.
The Bajau’s life at sea — spending hours diving for fish — created evolutionary pressure that favored a trait allowing them to hold their breath longer and dive deeper. Those who did not have that trait, researchers speculate, didn’t survive.
<h6>Hold Your Breath</h6>
The average person can hold their breath underwater for about a minute or two. With a little practice, a person can learn to push their underwater time to several minutes. But the research that was done by Melissa Ilardo, a University of Copenhagen, Ph.D. student, found that genetics also plays a role in their ability to dive longer and deeper than most people.
Bajau people have on average spleens that are 50 percent larger than other people of the same ethnic group, according to the research done by Ilardo. During a dive, the spleen contracts and this pushes out oxygen-rich blood into the circulatory system while they are holding their breath. The research found that there was a variant in the gene PDE104, which controls thyroid hormone and can lead to larger spleens. This variant was often found to appear in Bajau people.
<h6>Evolutionary Advantages</h6>
The study parallels research of evolutionary advantages among other populations in extreme environments around the globe.
For example, researchers have found a<a href="https://blog.23andme.com/news/breathless-over-new-finding-using-ancient-dna/"> genetic adaptation among Tibetans</a> who live at high altitudes where the level of oxygen is lower than at sea level. Tibetans were more likely to have variants on the EPAS1 gene that prevents blood thickening, a genetic advantage, and that this genetic advantage is something that was likely inherited from an ancient human cousin, the <a href="https://www.nature.com/nature/journal/v512/n7513/full/nature13408.html">Denisovans</a>, more than 40,000 years ago.
Interestingly, the Denisovans may have also contributed to the genetic adaptation that has helped the Bajau. Along with the variants that influence spleen size among Bajau, researchers also found variants in higher frequency among the Bajau in the gene FAM178B, which is involved in helping the body maintain the proper pH balance in the blood, and is believed to have come from Denisovans.
The genetic research done among the Bajau and Tibetans points to the value of studying isolated populations who may provide valuable insights not just into human evolution but to the possible treatment of certain conditions that affect us all.

23andMe Blog

23andMe Blog Team

Diving Into The Genetic Adaptations of Sea Nomads

Overturning long-held beliefs about the past, new insights from ancient DNA have revealed exciting surprises about who we are as people and how we got here.
In just the last few years, the ability for scientists to extract and sequence DNA from bones that are tens of thousands of years old has changed our understanding of the human story. Perhaps there are few better to tell that tale than the population geneticist David Reich.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/03/jackethighres-199x300.jpg" alt="" class="alignright size-medium wp-image-26087" width="199" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/03/jackethighres-199x300.jpg 199w, https://blogcms.23andme.com/wp-content/uploads/2018/03/jackethighres-768x1160.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2018/03/jackethighres-678x1024.jpg 678w, https://blogcms.23andme.com/wp-content/uploads/2018/03/jackethighres-583x880.jpg 583w, https://blogcms.23andme.com/wp-content/uploads/2018/03/jackethighres-781x1180.jpg 781w, https://blogcms.23andme.com/wp-content/uploads/2018/03/jackethighres.jpg 1500w" sizes="auto, (max-width: 199px) 100vw, 199px" />
In his new book, Who We Are and How We Got Here, Ancient DNA and the New Science of the Human Past, Reich explains the significance this new technical innovation has had in the study of human history and prehistory. He has packed into this book, not just an explanation of the difficulty in initially finding and sequencing DNA from these samples, but also what it means and how it has changed what we know about out our history.
“Basically, it’s a gold rush right now;” Reich said in a February 2016 interview with <a href="http://edge.org/conversation/david_reich-the-genomic-ancient-dna-revolution">The Edge</a>. “It’s a new technology, and that technology is being applied to everything we can apply it to, and there are &#8230; many gold nuggets strewn on the ground that are being picked up very rapidly. That’s what’s happening now.”
In his book, Reich describes ancient DNA researchers like himself as barbarians overturning the old and long standing approaches to studying human history.
<div id="attachment_26088" style="width: 968px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26088" src="https://blog-api.23andme.com/wp-content/uploads/2018/03/Reic_9781101870327_jkt_ap1_r1-e1521242394539.jpg" alt="" class="wp-image-26088 size-full" width="958" height="1146" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/03/Reic_9781101870327_jkt_ap1_r1-e1521242394539.jpg 958w, https://blogcms.23andme.com/wp-content/uploads/2018/03/Reic_9781101870327_jkt_ap1_r1-e1521242394539-251x300.jpg 251w, https://blogcms.23andme.com/wp-content/uploads/2018/03/Reic_9781101870327_jkt_ap1_r1-e1521242394539-768x919.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2018/03/Reic_9781101870327_jkt_ap1_r1-e1521242394539-856x1024.jpg 856w, https://blogcms.23andme.com/wp-content/uploads/2018/03/Reic_9781101870327_jkt_ap1_r1-e1521242394539-736x880.jpg 736w" sizes="auto, (max-width: 958px) 100vw, 958px" />David Reich &nbsp;&nbsp; Photo: Bizu Tesfaye (Howard Hughes Medical Institute)</div>
“Ancient DNA has allowed us to peer deep into time and force us to question our understanding of the past,” he writes.
A professor of Genetics at Harvard University and a Howard Hughes Medical Institute Investigator, Reich opened his own ancient DNA lab at Harvard in 2013, with the help of <a href="https://www.theguardian.com/science/2014/feb/15/svante-paabo-dna-neanderthal-genetics">Svante Paabo</a>, who was the first to use DNA extracted from ancient bones to sequence the Neanderthal genome. That has revealed the more than being just ancient cousins, early modern human and Neanderthal interbreed, and DNA fragments of those encounters live on today in all humans outside of Africa. Similar findings have been made around Denisovans, another ancient human cousin, and other “ghost populations” that have died out. And with each revelation comes a revision of human prehistory and mankind’s migration out of Africa and across the globe.
In his book, Reich also reveals in a chapter called “The Great Mixing” a refrain in of human history, that no matter how divergent the population, humans intermixed and that all populations today are mixed.
“The mixtures of highly divergent groups have happened time and time again,” he writes.
He uses examples <a href="https://www.nature.com/articles/nature08365">of populations in India</a>, that intermixed 2,000 to 4,000 years ago, as well as more recent mixing among <a href="http://www.cell.com/ajhg/pdfExtended/S0002-9297(14)00476-5">African Americans, Latinos and European Americans</a>. Some of that mixing also reflects the “deep history of inequality” among the different populations and sexes.
Toward the end of his book, Reich talks about his optimism that this work to highlight human connections, not their differences.
“[If] you actually take any serious look at this data, it just confounds every stereotype. It’s revealing that the differences among populations we see today are actually only a few thousand years old at most and that everybody is mixed,” he said in <a href="https://www.theatlantic.com/science/archive/2018/03/ancient-dna-history/554798/">a recent interview</a>.

Ancient DNA offers new insight into the human story

<div id="attachment_25595" style="width: 294px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-25595" src="https://blog-api.23andme.com/wp-content/uploads/2017/08/Fah-284x300.jpg" alt="" class="wp-image-25595 size-medium" width="284" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/08/Fah-284x300.jpg 284w, https://blogcms.23andme.com/wp-content/uploads/2017/08/Fah.jpg 346w" sizes="auto, (max-width: 284px) 100vw, 284px" />Fah getting ready for his trek to Everest base camp. Everest can be seen in the background.</div>
On vacation trekking the Himalayas with his partner, 23andMe computational biologist Fah Sathirapongsasuti didn’t just take snapshots of surrounding peaks, he also did a little science at 17,000 feet.
As he hoofed along the trail to Everest base camp, Fah recorded the toll of hiking at altitude took on his body, monitoring his heart rate, the oxygen saturation in his blood, the number of calories he burned, and his disrupted sleep patterns.
“There were a few days that I felt pretty miserable,” he said.
Collecting data on vacation might not be on the top of your trip itinerary, but Fah saw an opportunity. He saw a chance to record in real time and with real data, the impact of altitude on the human body. And, he thought if enough people like him recorded their data and pooled it together, perhaps he could learn something more about why some of us do better than others at higher elevations. (You can see morea about how he tracked his data <a href="https://scholar.harvard.edu/fah/science-little-altitude">here</a>, or look at the sidebar to learn more about how you could track your own data if you’re planning a trip to higher elevations.)
“I don’t think you need to be a geek or a scientist to enjoy collecting data during your vacation,” said Fah. “Our ability to adapt to foreign environments such as high altitude is a testament to the wonder of the human body. Quantifying it will help you see and appreciate your own body more.”

<div style="float: right; text-align: justified; width: 350px; background-color: #eee; padding: 15px; margin-left: 10px;">
Fah&#8217;s DIY Altitude Science Field Guide 
I don’t think you need to be a geek or a scientist to enjoy collecting data during your vacation. Our ability to adapt to foreign environments such as high altitude is a testament to the wonder of the human body. Quantifying it will help you see and appreciate your body more. Plus, monitoring your blood oxygen level (SpO2) during high altitude trekking can literally save your life!
My data from Everest Base Camp Trekking can be found <a href="https://docs.google.com/presentation/d/1LQA3bKR-fcssExZcvDPMyKOgIzIgahPcjjP12krvqjY/edit?usp=sharing">here</a>. If you are planning a trip up the mountains, to elevations higher than 9,000 feet, I’ve outlined how you too can track this data.
What to track?
If you are traveling to a “very high altitude” — defined as anything higher than 11,500 ft (e.g. Mt Whitney, Machu Picchu, or Mount Kilimanjaro) — there are a few experiments you can try. 
I found that the oxygen saturation in my blood, now easily measured using a pulse oximeter that can be clipped to your finger and also tracks your pulse rate. 
The key here is to record at three consistent times each day:

<ol>
<li>On arrival at your resting point (e.g. campsite or , lodge)</li>
<li>Before bed</li>
<li>Morning, within the first hour after waking up</li>
</ol>
When recording the data, you should also make note of the elevation, and whether you have any symptoms of altitude sickness. For me, that amounted to nausea, dizziness, restless sleep and blurred vision.  Beyond those three key points of measuring your blood oxygen, you should also measure immediately after exertion, that could include hiking or climbing or skiing. Whatever you are doing at elevation that is physically taxing.  Record the exercise. Measure your heart rate and SpO2 immediate after exercise. Keep repeatedly measuring every 30 seconds after you’ve finished the “exercise” until your heart rate returns to normal. For me, this was instructive because I was able to see that I could recover even from the most strenuous exertions relatively quickly with a relatively  If you are going to a moderately high altitude location (4,900-11,500 ft), such as Aspen or Lake Tahoe, it is less likely that you will experience altitude sickness., But you may observe changes in your physiology especially during an exercise.  You might consider doing some strenuous exercise such as a sprint and measure your SpO2.  You might be surprised by how low it can get.
What You’ll Need 
Like any good experiment you’ll need a few things to ensure you can record good data. You&#8217;lld need a good pulse oximeter.  There are several brands.  The one I used is iHealth Air Pulse Oximeter available on <a href="https://www.amazon.com/iHealth-Pulse-Oximeter-Apple-Android/dp/B00D7MDXCU">Amazon</a>. In addition you&#8217;ll need a fitness tracker.  There are several acceptable, each with its own features and quirks.  I use Fitbit Charge HR, mostly for the balance between price and features.  Make sure it has continuous heart rate monitor and accelerometer (for steps and elevation gain estimate). 
</div>
Although we can acclimatize to exertion at elevation, some people adapt to life at higher altitudes better than others. Sherpas, the ethnic group that has lived for thousands of years in the Himalayas, have a genetic advantage for life in the thin oxygen air of their homelands. So do Tibetans. Their genetic advantage is something they inherited from our ancient human cousins, the<a href="https://www.nature.com/nature/journal/v512/n7513/full/nature13408.html"> Denisovians</a>, more than 40,000 years ago. Variants in two genes EPAS1 and EGLN1 are prevalent in Tibetans. Among everyone else, it’s hard to predict who will be get sick at high elevations and who won’t. 
Most people know that climbing Everest is fraught with peril, but fewer know that just trekking to base camp can pose a danger due to altitude sickness. Although there aren&#8217;t accurate statistics on the number of trekkers hit by altitude sickness on the trail, a few die each year from what’s called Acute Mountain Sickness or underlying conditions that are exacerbated by exertion at altitude. But currently there is no good way to determine who might get sick and who won’t.
Fah and his partner were careful and prepared for their trek. Both of them are in shape, but even so they had days that were very difficult. Fah thought this was likely so he wanted to record the data to see how his body changed during the hike, and to see how it affected him differently than others.
“I know what I felt, but I wanted to see the data too,” he said.
There were some obvious data points. The higher Fah went, the lower the oxygen saturation in his blood.
“Duh,” he joked.
Although it wasn’t surprising, the data dramatically illustrated the impact of altitude. As Fah crossed the pass between Lobuche and Gorakshep at more than 16,000 feet, his oxygen saturation dropped below 80 percent, and his resting heart rate spiked upward. He got headaches, felt dizzy and his vision blurred. Fah slept less. None of that is atypical. In fact having your oxygen saturation drop below 80 percent for an extended period is very dangerous.
Over the week long trip, Fah slowly acclimatized to the higher elevations.  And his numbers got better, but in general, there was a direct correlation between how bad he felt and elevation gain. Beyond what he felt and what he was recording, Fah also knew that there are many studies <a href="https://www.nap.edu/read/5197/chapter/24"> on this</a>.
Out of curiosity Fah also added one other data point, he measured the oxygen saturation of three of the Sherpas helping to ferry some of the supplies for the trekkers. On average their oxygen levels were three to five percentage points higher than Fah, and they were much more comfortable.
As Andrew Murry, a physiologist at the University of Cambridge in the UK <a href="https://www.npr.org/sections/goatsandsoda/2017/05/28/530204187/the-science-behind-the-super-abilities-of-sherpas">recently told NPR</a>:
“You don&#8217;t need to spend very long in that part of the world to see that the people living there, particularly the Sherpas, perform extremely well at altitude — a lot better than we do.&#8221;
Over time many of us can acclimate ourselves to exertions at higher altitudes, improving our blood oxygen saturation levels, for instance. And Fah was able to see how, even in the short time he was in Nepal, his body acclimated itself to the higher elevations.
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2017/08/Graph-SpO2-1024x612.png" alt="" class="aligncenter wp-image-25596 size-large" width="1024" height="612" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/08/Graph-SpO2-1024x612.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2017/08/Graph-SpO2-300x179.png 300w, https://blogcms.23andme.com/wp-content/uploads/2017/08/Graph-SpO2-768x459.png 768w, https://blogcms.23andme.com/wp-content/uploads/2017/08/Graph-SpO2-880x526.png 880w, https://blogcms.23andme.com/wp-content/uploads/2017/08/Graph-SpO2-1180x705.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2017/08/Graph-SpO2.png 1388w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />
Oxygen saturation (SpO2, gray line) decreased as the elevation (blue line) increased. Symptoms of altitude sickness such as headaches, blurry vision, and sleeplessness are common when SpO2 dropped below 80, between Day 5 and Day 8.
But even acclimatizing won’t entirely relieve the symptoms and it’s still difficult to predict why some people get sick, and altitudes and others do not. So Fah decided to invite others with plans to trek at elevation — 11,000 feet or higher — to record their data.
“The lesson I learn as a scientist at 23andMe is that crowd-sourcing can give us the power to make a discovery at an unprecedented rate and scale. Together we might be able to discover a way to predict and prevent altitude sickness,” he said.

Science With A Little Altitude

<img loading="lazy" decoding="async" class="alignright size-full wp-image-23616" src="http://35.88.189.111/wp-content/uploads/2016/02/Screen-shot-2016-01-22-at-12.33.27-PM.jpg" alt="" width="232" height="288" />
The ability to extract and then sequence ancient DNA, not just from ancient human bones, but also from the bones of our ancient cousins the Neanderthals, is upending old notions of human migration and history.
<h2>Ancient DNA</h2>
The latest in a rapid succession of<a href="https://www.nature.com/news/evidence-mounts-for-interbreeding-bonanza-in-ancient-human-species-1.19394#Early"> new findings</a> suggests that intermixing between Neanderthals and early modern humans happened earlier than we once thought – about <a href="https://www.nature.com/articles/nature16544.epdf?referrer_access_token=CMEgDNGJuW7rNIX8-5DetdRgN0jAjWel9jnR3ZoTv0MInt_2jYvKBG--7sOqWdGTzUvToNHVvyhzE6mZLLgJJmR7yoinCDiE3vg9Q5AVA-nZquOQOOQnhcfdq9lCTp4TcwdkXstlNRZ7xfdZRcnYB6sIPffF_OSID_rECaKCbx-nDNFAoD9EQPv4N_1WWd-A8l0yEwuBeZ6eFt0-g5i0T9MPLVmGCIKRPC0jEsDeYZxD78jhZvPiTcPMjQJT5jr-&amp;tracking_referrer=www.nature.com">100,000 years ago</a> versus <a href="http://sriramsankararaman.com/publications/sankararaman.pgen.2012.pdf" target="_blank" rel="noopener noreferrer">50,000 years ago</a> – at a time that challenges long held theories about when humans migrated out of Africa and how far those migrations took them. And by looking at DNA sequences extracted from several different Neanderthal bones, researchers discovered that the gene flow didn’t just go from Neanderthals to humans.
This latest finding illustrates the impact DNA data, specifically data from ancient DNA, has had. <a href="https://www.theguardian.com/science/2014/feb/15/svante-paabo-dna-neanderthal-genetics">Svante Paabo</a> of the Max Planck Institute for Evolutionary Anthropology pioneered this innovation for extracting ancient DNA and accurately sequencing, and it radically transformed our understanding of human history.
<h2>New Information About the Past</h2>
Harvard population geneticist David Reich puts this new innovation into context in a long interview he did with<a href="http://edge.org/conversation/david_reich-the-genomic-ancient-dna-revolution"> The Edge</a>. Reich, who studies genetic variation among human populations, said that scientists have gained great new insights into history by comparing ancient DNA sequences to present-day humans’ genetic data.
“It’s a radically new type of information about the past; it’s a great gift to be able to have access to it,” Reich said in the interview. “It’s a great surprise. Who would have thought DNA survived that long?”
Probably the most profound insight from looking at ancient DNA and making comparisons with data from modern humans is that all human populations today are mixed.
<h2>Neanderthals and Modern Humans</h2>
This isn’t just about mixing between humans and Neanderthals, but mixing among early human populations and that data offers great insight into human history. He’s also looked at non-ancient human DNA to garner similar insights. So for example, Reich has looked at populations in India where they found that populations mixed there between 2000 to 4000 years ago. Before that there were unmixed populations.
“Amazingly, what you could see from the genetic data was an event in which you could see cultural change,” he said.
You can see something similar in more recent history by looking at the DNA of African Americans, which includes European ancestry, a clear mark of the slavery in the United States.
“What you’re seeing in the imprint of these populations genetically is the history of power inequality, which is usually males of power from one group having preferential access to local females, and that’s what you see in these groups,” Reich said.
Listen to Reich’s interview below.
The Edge Foundation, also has a video of his interview on its site<a href="http://edge.org/conversation/david_reich-the-genomic-ancient-dna-revolution"> here</a>.
<iframe loading="lazy" src="https://w.soundcloud.com/player/?url=https%3A//api.soundcloud.com/users/65424416&amp;auto_play=false&amp;hide_related=false&amp;show_comments=true&amp;show_user=true&amp;show_reposts=false&amp;visual=true" width="100%" height="450" frameborder="no" scrolling="no"></iframe>

Blast from the Past

New research by scientists at Vanderbilt University adds to our understanding of the legacy of our ancient cousins, the Neanderthals.<img loading="lazy" decoding="async" class="alignright wp-image-23459 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2016/01/Neanderthal-Image-247x300.jpg" alt="Neanderthal Image" width="247" height="300" />
<a href="http://science.sciencemag.org/content/351/6274/737.full">The study</a> looked specifically at health conditions, finding associations between Neanderthal DNA and conditions related to immune response, blood clotting, and depression by using electronic health records from more than 50,000 individuals.
When humans migrated out of Africa they intermixed with Neanderthals perhaps 60,000 years ago, and so all non-Africans carry some remnant of Neanderthal DNA. Scientists believe that by mixing with Neanderthals, who lived and thrived in Europe and Asia for 100,000 years, modern humans got an evolutionary advantage as they migrated into those new environments.
<a href="http://www.cell.com/ajhg/abstract/S0002-9297%2815%2900486-3">A paper</a> published earlier this year suggests that intermixing with Neanderthals conferred an advantageous immune response for populations that ultimately settled in Europe. Another study two years ago looked at how intermixing with another ancient human cousin, the Denisovan, may have conferred an evolutionary advantage for Tibetans to cope with high altitude through a variant in the EPAS1 gene that helps to prevent blood thickening.
But some of those same traits inherited from Neanderthals – and presumably other ancient human cousins – that tens of thousands of years ago may have been advantageous, may not be beneficial in modern times when diet and lifestyle are so different.
“These variants sometimes protect against a disease,” said Svante Paabo the<a href="http://www.mpg.de/9819763/neanderthal-genes-immune-system"> Max Planck Institute for Evolutionary Anthropology</a>.
Interviewed for a story in Science Magazine about the findings Paabo added that some of the variants may “sometimes make people more susceptible to disease.”
Although the Vanderbilt study focuses just on health related traits, it illustrates the potential of looking at a broad grouping of phenotypes like those in the electronic medical records, with known Neanderthal variants. (23andMe <a href="https://blog.23andme.com/articles/new-neanderthal-report">reports</a> 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.)
In an article in the<a href="http://www.theatlantic.com/science/archive/2016/02/neanderthal-dna-affects-depression-risk-today/462345/"> Atlantic</a>, Ed Yong points this out and notes that, instead of focusing on the associations with disease, attention around this study might be better focused on what those associations can tell us about the biology of certain conditions. For instance, the researchers found that Neanderthal DNA is associated with depression and certain mood disorders. Specifically, researchers speculate variants that helped Neanderthals adapt to lower sunlight exposure in northern latitudes, could have carried a higher risk for depression, which is influenced by sunlight exposure.

The Lasting Legacy of Neanderthals

The pace of discovery in genetics is such that every few months a new finding has the potential to change something fundamental about our understanding of the science. To keep up, we here at 23andMe take a moment to look back and list the top genetic findings of the year.<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" />
&#8211; Ebola DNA 
As health workers heroically raced to try and stop the outbreak of Ebola in West Africa, <a href="https://www.newyorker.com/magazine/2014/10/27/ebola-wars" target="_blank" rel="noopener noreferrer">a core group of scientists</a> at Broad Institute began sequencing the virus in real time. They wanted to understand how it mutates, whether there are strains that are more deadly than others and why some individuals may be more resistant to the virus than others. In one of the team’s first studies, they were able to <a href="http://www.sciencemag.org/content/345/6202/1369" target="_blank" rel="noopener noreferrer">trace the start of the outbreak</a> in Sierra Leone to a funeral in May of 2014. But as a testament to the dangers many of these health workers face, five of the co-authors on the study – who worked in Sierra Leone – contracted Ebola and died.
&#8211; Noninvasive Prenatal DNA Testing 
A new kind of DNA test allows for the screening of prenatal abnormalities without the kind of invasive procedures needed in the past. <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2012/02/iStock_000014838144XSmall-300x199.jpg" alt="new born baby" class="alignright size-medium wp-image-11065" width="300" height="199" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/02/iStock_000014838144XSmall-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/02/iStock_000014838144XSmall.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />. The test allows doctors to <a href="http://well.blogs.nytimes.com/2014/02/26/new-dna-test-better-at-predicting-some-disorders-in-babies-study-finds/" target="_blank" rel="noopener noreferrer">obtain fetal DNA</a> by taking a small blood sample from the mother and then screening for chromosomal disorders.
&#8211; $1,000 Genome? 
Much has been made about the quest for the <a href="https://www.nature.com/news/is-the-1-000-genome-for-real-1.14530" target="_blank" rel="noopener noreferrer">$1,000 genome</a> and its potential for revolutionizing medicine and research. <a href="http://www.utsandiego.com/news/2014/dec/01/san-diego-innovation-scientist-edico-illumina/" target="_blank" rel="noopener noreferrer">Illumina announced</a> that they have developed a machine – the HiSeq X ten – that, at volume, can reach that price point. Since the first human genome was sequenced a little more than a decade ago, the cost of sequencing has plummeted to less than one-one hundred-thousandth of its original price. But as the price of sequencing has dropped, the utility of that information has risen. Cost soon will no longer be a barrier for getting tested.
&#8211; Emergency Sequencing 
A boy is rushed to the hospital critically ill, but no one can quite figure out what is wrong with him. His case published in the <a href="https://dx.doi.org/10.1056/NEJMoa1401268" target="_blank" rel="noopener noreferrer">New England Journal of Medicine</a> and reported on in the <a href="https://www.nytimes.com/2014/06/05/health/in-first-quick-dna-test-diagnoses-a-boys-illness.html" target="_blank" rel="noopener noreferrer">The New York Times</a>, illustrates the power of next-generation sequencing to quickly identify a pathogen and help direct treatment. Suffering from a fever, headache, stomach pain and swelling of the brain, the 14 year-old’s condition got so bad that he was put into a medically induced coma. After weeks of trying treat and diagnose him, doctors finally decided to sequence the boy’s cerebrospinal fluid and compare it to a sequencing data from the <a href="https://www.ncbi.nlm.nih.gov/" target="_blank" rel="noopener noreferrer">National Center for Biotechnology Information</a>. Within a few hours using doctors were able to pinpoint a likely cause of the infection, the bacteria Leptospira, that brought him close to death.This allowed doctors to identify proper treatment and bring him back from the brink.
&#8211; King Richard’s Bones<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2014/12/richardiiiportrait.jpg" alt="richardiiiportrait" class="alignright size-full wp-image-21981" width="200" height="269" /> 
The story around the identification of <a href="https://blog.23andme.com/news/king-richards-bones/" target="_blank" rel="noopener noreferrer">King Richard III’s bones</a> found under a municipal parking lot in Leicester, England offers a rare opportunity to look at what we know about a historical figure, <a href="https://www.nature.com/ncomms/2014/141202/ncomms6631/full/ncomms6631.html" target="_blank" rel="noopener noreferrer">use DNA</a> from that individual, and then compare it with the DNA from living relatives –as well as what’s in the history books and even classic literature – to piece together a more complete version of history.
&#8211; Genetic Diversity 
Three studies over the past year have expanded what we know about people with ancestry from <a href="https://www.nature.com/nature/journal/vaop/ncurrent/full/nature13997.html" target="_blank" rel="noopener noreferrer">Africa</a>, <a href="http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0102645" target="_blank" rel="noopener noreferrer">south Asia</a> and <a href="http://www.sciencemag.org/content/344/6189/1280" target="_blank" rel="noopener noreferrer">Mexico</a>, and remind us that more needs to be done to improve the diversity of genetic studies, which in turn is critical for improving medical research for everyone.
&#8211; Eurogenes 
Studies early this year by scientists at Harvard and at the Max Planck Institute in Germany, added more to what we know about human evolution by tracing modern Europeans to <a href="https://www.nature.com/nature/journal/v513/n7518/full/nature13673.html" target="_blank" rel="noopener noreferrer">three distinct ancient populations</a>. Led by geneticist David Reich, the study used DNA extracted from ancient bones and compared the sequences to sequences from modern humans.
&#8211; More Ancient DNA<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2014/03/Image12-300x209.jpg" alt="Max Planck Forscher Prof. Dr.Svante PÃ¤Ã¤bo entschlÃ¼sselt Neandertaler-Genom" class="alignright size-medium wp-image-20651" width="300" height="209" /> 
Svante PÃ¤Ã¤bo and his team at the <a href="http://www.mpg.de/eva-en?section=eb-evb-g" target="_blank" rel="noopener noreferrer">Max Planck Institute for Evolutionary Anthropology</a> in Leipzig, Germany went back farther than anyone before in sequencing a <a href="https://www.nature.com/nature/journal/v514/n7523/full/nature13810.html" target="_blank" rel="noopener noreferrer">45,000 year-old leg bone</a> found on a riverbank in Siberia. PÃ¤Ã¤bo and his team were the first to decode the Neanderthal genome a few years back, and they have left us all to marvel as the ability to obtain a quality DNA sequence from ancient bones. But beyond that achievement, the sequence also gives us more detail about how modern humans evolved and interbred with their early human cousins, such as Neanderthals and <a href="http://www.theatlantic.com/technology/archive/2014/08/the-other-neanderthal/375916/" target="_blank" rel="noopener noreferrer">Denisovans</a>. From previous work, we knew that humans and Neanderthals interbred, but this sequence allowed scientists to pinpoint <a href="https://www.nytimes.com/2014/10/23/science/research-humans-interbred-with-neanderthals.html?ref=science&#038;_r=0" target="_blank" rel="noopener noreferrer">when the interbreeding occurred</a>.
&#8211; Protective Flaw 
Researchers lead by a team from Massachusetts General Hospital and the Broad Institute, found that a genetic variant in the gene NPC1L1 that not only lowers the levels of “bad” LDL cholesterol but also significantly <a href="http://www.bostonglobe.com/lifestyle/health-wellness/2014/11/12/flawed-gene-protects-against-heart-disease/itUCUgFWJEPdHR3fRqTReJ/story.html" target="_blank" rel="noopener noreferrer">cuts the risk for heart disease</a>. The finding published in the <a href="http://www.nejm.org/doi/full/10.1056/NEJMoa1405386" target="_blank" rel="noopener noreferrer">New England Journal of Medicine</a>, is interesting for another reason. By pooling large sets of genetic data, researchers can find people with rare genetic variations that are protective against certain conditions. This in turn can help researchers more effectively identify the biological underpinnings for those conditions as well as target more effective treatments.
&#8211; Written in Our DNA 
Not wanting to toot our own horn, we didn’t single out all the papers 23andMe researchers published. It’s an impressive

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list, not just for how much work our scientists have done, but for the breadth of our research. We also posted a strong showing at this year’s meeting of the American Society of Human Genetics. And we can’t let the year go by without mentioning a paper published this month in <a href="http://www.cell.com/ajhg/home" target="_blank" rel="noopener noreferrer">American Journal of Human Genetics</a>. 23andMe population geneticist Kasia Bryc created a first-of-its-kind <a href="https://blog.23andme.com/23andme-research/history-written-in-our-dna/" target="_blank" rel="noopener noreferrer">genetic portrait of the United States</a>. The study offers a detailed look at how the ancestry make-up of self-identified African Americans, Latinos and European Americans differs by region and these differences reflect some of the distinctive socio-political history in different parts of the United States.
&nbsp;

Top Genetic Findings of 2014

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.

Breathless Over New Finding Using Ancient DNA

This interview is part of an occasional series of profiles introducing you to the people behind 23andMe’s compelling research. Eric <img loading="lazy" decoding="async" class="alignright wp-image-21006" src="https://blog-api.23andme.com/wp-content/uploads/2014/05/23andMe-Eric-008-copy.jpeg" alt="23andMe-Eric-008 copy" width="172" height="244" />Durand has been instrumental in developing several <a href="https://www.23andme.com/ancestry/">ancestry features at 23andMe</a> including tools that allow customers to see their Neanderthal percentage and to use to see what percent of their DNA comes from populations around the world with the Ancestry Composition feature. Prior to his work at 23andMe, Eric developed statistical methods to look at the connections between archaic – Neanderthals and Denisovans – and modern humans. His primary interests are in the inference of ancestry and the discovery of hidden familial relationships through DNA. 
“We’re still learning more about modern humans and it’s much more complicated than we anticipated.”
<h6>What were you researching before you came to 23andMe? </h6>
Prior to 23andMe, I was involved in the analysis of the first draft of the Neanderthal genome, which was published in 2010. I also worked on similar analysis of the Denisovan genome. We developed the <a href="https://blog.23andme.com/articles/more-on-23andmes-neanderthal-lab/">Neanderthal percentage calculator </a>as a novel way to look at the Neanderthal DNA in almost all modern humans.
When we first published our Neanderthal research, it went against popular consensus and we met a lot of resistance. Even today, scientists don’t necessarily agree that there was indeed admixture between Neanderthals and modern humans.
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">Eric Durand, PhD, Computational Biologist
Originally from: Paris, France.
MA: Applied Math and Modeling Biological Systems, Grenoble Institute of Technology, France.
PhD: Population Genetics, Grenoble Institute of Technology, France.
Post-doc: University of California, Berkeley
Fun Fact: I’m 3.0 percent Neanderthal, and have a higher percentage of British than French DNA
</div>
<h6>Why are you excited about genetics?</h6>
I got into genetics late in my applied statistics PhD, because my advisor was working on population genetics. Initially I got excited about answering evolutionary questions through data. I’m also interested in conservation genetics, which look at endangered species and make inferences on whether the gene pool is still diverse enough for the species to recover. So far we’ve found that there’s no common threshold for how many animals you need to create a population – it’s very species-dependent.
<h6>Tell us about one of your interesting findings. </h6>
Working on 23andMe’s Ancestry Composition feature has been a great learning experience. Before our current version, we provided something called Ancestry Painting, which divided populations into three groups: Asian, European and African. Obviously our customers wanted more specificity, and scientifically, we wanted to include more diverse reference populations to improve the accuracy of the tool.
In the future, we’ll improve the accuracy of our estimates by adding more reference populations from our growing database and external sources.
Even if you’re not interested in genealogy, Ancestry Composition is important because diseases have different prevalence dependent on population. For example, some populations have a higher rate of diabetes or breast cancer than others.
<h6>What&#8217;s one thing the average person should know about genetics?</h6>
Everyone should have a basic understanding of inheritance, or how you get chromosomes from your mother and father. Although we each get 50 percent of our DNA from our mother and 50 percent from our father, chromosomes are shuffled at each generation. So with each successive generation, what you inherit from each ancestor becomes harder to identify.
<h6>Tell us about a recent breakthrough in genetics research that you think will have a big impact. </h6>
In the field of population genetics, we’re still learning more about human evolution and it’s much more complicated than we anticipated. It’s really interesting, for example, to look at why we’re the only human species that remains today. New research will be published in 2014 showing that we’re becoming really good at sequencing old, dead stuff. In fact, <a href="https://blog.23andme.com/articles/more-neanderthal/">technology is pushing the limits</a> of how old, damaged and contaminated material can be. Today you can extract and amplify very poor quality DNA.
<h6>What interesting thing have you learned about yourself from being tested?</h6>
I discovered I’m unlikely to taste bitter flavors. We recently did a chemical experiment in a classroom of children to simulate bitter tasting. While most of the kids spit out the chemically treated paper, me and about 20 percent of the class couldn’t taste it at all.

A Conversation With 23andMe’s Eric Durand

Scientists at the University of Washington’s Department of Genome Sciences, report that they can zero in on remnant Neanderthal DNA in modern humans.
They have identified specific regions in our genome where that ancient DNA resides, and they can do this even without access to actual Neanderthal DNA samples from fossilized bones.
<h6><img loading="lazy" decoding="async" class="alignright size-full wp-image-20253" src="https://blog-api.23andme.com/wp-content/uploads/2014/01/Neanderthal_model.jpg" alt="Neanderthal_model" width="260" height="270" />Neanderthal Traits</h6>
The study published this week in Science promises to help researchers working not just in addressing questions about human evolution, but those investigating the underpinnings of human traits and complex diseases.
Up to this point, scientists using tools – like the one developed by 23andMe – could make estimates about the amount of overall Neanderthal DNA in modern humans, but this new technique could help researchers bore down on where in the genome that DNA resides.
That could give us greater insight into how the Neanderthals DNA changed modern humans, including what sort of traits and conditions they conferred onto Homo sapiens.
<h6>Evolutionary Success</h6>
There are many theories regarding the influence Neanderthal DNA had on modern humans. Some have pointed to Neanderthal DNA as a culprit in certain cancers, in autism and diabetes. But it is also likely that modern humans benefited from interbreeding and that Neanderthal DNA may have played a large role in<a href="http://www.scientificamerican.com/article/sex-with-other-human-species-might-have-been-secret-homo-sapiens/"> our evolutionary success</a>.
Over the last few years, we’ve learned that most non-Africans carry some remnant Neanderthal DNA. But what that might mean – what characteristics, diseases or conditions that we modern humans carry with us because of that DNA – is still unclear.
<h6>Neanderthal Sequence</h6>
Just last month researchers from the Max Planck Institute for Evolutionary Anthropology sequenced the full genome of a Neanderthal woman. They did this by extracting DNA from her 50,000-year-old fossilized toe bone found at a site in Siberia. The sequence was done at a quality comparable to what would be done for a living person. And the researchers were able to use the sequence to show how genes flowed between these populations.
This and other breakthroughs have only increased the pace of our changing understanding of early human evolution. As we learn more, our curiosity about those early cousins only seems to grow.
Take a look at these new illustrations of Neanderthals done for an exhibit called Britain. It&#8217;s called One Million Years of Human History and was put together by the National History Museum in the UK.
<iframe loading="lazy" src="//www.youtube.com/embed/znUvFxsrMOs" width="560" height="315" frameborder="0" allowfullscreen="allowfullscreen"></iframe>
<img loading="lazy" decoding="async" class="alignright wp-image-14049" title="neanderthal icon" src="https://blog-api.23andme.com/wp-content/uploads/2012/06/neanderthal-icon-96x150.jpg" alt="" width="50" height="77" />
Got Neanderthal DNA?
23andMe customers can find their inner Neanderthal or at least how much Neanderthal DNA they have. Not yet a customer? <a href="https://www.23andme.com/store">Visit our store</a>!

More Neanderthal

Each year at this time 23andMe puts together a list of the most interesting genetic findings of 2013. We’re doing that again but with a twist.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2011/12/top10ten-266x300.jpg" alt="top10ten" class="alignright size-medium wp-image-10750" width="266" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/12/top10ten-266x300.jpg 266w, https://blogcms.23andme.com/wp-content/uploads/2011/12/top10ten.jpg 306w" sizes="auto, (max-width: 266px) 100vw, 266px" />
We want to include in our list a few things that aren’t findings or discoveries, but clearly, these stories have had a huge impact on the field of genetics. The fact that these stories made such a big splash beyond the world of science and health reporting illustrates how important genetics has become for everyone.
As far as research goes, in the last year, we’ve seen the continued rapid pace of discovery in genetic sciences. These new findings have included research into the biology of disease, mental illness and new insights into our understanding of human evolution. Researchers here at 23andMe are also a part of this push to understand not just the human story, but the biology of disease and the role genetics plays in our lives.
So let’s take a quick look back at the last year and 23andMe’s list of the Top Ten Genetic Stories of 2013.
<h6> THE ANGELINA EFFECT<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2013/12/Angelina-image-196x300.jpg" alt="46th New York Film Festival &quot;Changeling&quot; Premiere - Inside Arrivals" class="alignright size-medium wp-image-20131" width="173" height="265" /></h6>
Angelina Jolie’s<a href="https://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html"> revelation</a> that she underwent a double prophylactic mastectomy after learning she had a mutation in the BRCA1 gene, brought genetic screening into sharp focus for everyone. In making her difficult choice, she took into consideration her family history – her mother died of ovarian cancer (also associated with BRCA1 gene mutation) and her aunt also had breast cancer   – her ancestry and her age. Going public with her story also offered comfort to many women facing similar choices.
<h6>EWWW</h6>
It probably wasn’t what Walt Whitman<a href="http://www.daypoems.net/plainpoems/1900.html"> meant</a>, but indeed we all “contain multitudes.” Our bodies are host to literally trillions of microorganisms that make up the “human microbiome,” and those organisms play a very important but not fully understood role in our health. There is also a link between the make-up of that microbiome and the genetic variation of our immune systems, which is another thing we haven’t yet fully figured out. But even without fully understanding how these all interrelate, doctors have started to use these important microorganisms to treat illnesses. Early in the year, the New England Journal of Medicine published a study that followed 16 patients who were treated for a severe gut infection with a<a href="https://www.nature.com/news/faecal-transplants-succeed-in-clinical-trial-1.12227"> fecal transplant.</a> While it might be something you’d rather not talk about over dinner, the treatment of the Clostridium difficile infection worked in 15 of the 16 patients.
<h6>FIVE MENTAL ILLNESSES SHARE A COMMON GENETIC LINK</h6>
A<a href="http://www.thelancet.com/journals/lancet/article/PIIS0140-6736%2812%2962129-1/fulltext"> study published in early 2013</a> found that five very distinct psychiatric disorders share an association with some variants in genes that control signaling in the brain. The large study looked at schizophrenia, bipolar disorder, autism, major depression and attention deficit hyperactivity disorder. Although these are very different conditions, the findings may help researchers better understand the underpinnings of these very different illnesses. Two of the four variants involve calcium channels, integral for signaling within the brain.
<h6 dir="ltr">NOTHING TO SNEEZE AT<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2010/03/allergy.jpg" alt="allergy" class="alignright size-full wp-image-6151" width="198" height="176" /></h6>
There’s an ongoing debate about the interplay between genetics and the environment in why there has been an apparent increase in the rate of allergies. There are many theories offered to explain this including the “<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2841828/">hygiene hypothesis</a>,” which suggests that an increasingly sanitized environment inhibits the development of the immune system.  Another theory is that increased exposure to chemicals and pollutants are the culprits. The rate of <a href="http://www.jacionline.org/article/S0091-6749%2805%2901314-X/abstract">allergies</a> has more than<a href="https://www.cdc.gov/nchs/data/databriefs/db10.htm#howdoes"> doubled over the last decade</a>.   While this increase is pointing to environmental factors, genetics is an important component.
A study done by 23andMe scientists and researchers at the University of Bristol’s<a href="http://www.bristol.ac.uk/alspac/"> Avon Longitudinal Study of Parents and Children (ALSPAC)</a> in the UK found <a href="https://mediacenter.23andme.com/press-releases/allergies_2013">new genetic associations for asthma and allergies</a>. It was the largest genome-wide association study ever conducted on common allergies with data from more than 53,000 people. The study showed that there are also common genetic variants underlying allergies to cats, pollen and dust mites
<h6>HUMAN GENES CAN’T BE PATENTED</h6>
Not long after Angelina’s revelation, the Supreme Court unanimously decided to bar the patenting of human genes. The case involved Myriad Genetics, which has long held patents for breast and ovarian cancer screening. What’s not so clear from the Supreme Court’s decision is what sort of impact this decision will have on research and innovation. While several companies almost immediately jumped into BRCA testing, legal challenges by Myriad to   stop those efforts quickly followed, leaving more doubt about how this will all play out.
<h6>THE WAY BACK<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2013/05/neanderthal.jpg" alt="neanderthal" class="alignright size-full wp-image-18144" width="150" height="270" /></h6>
Scientists extracted DNA from a 400,000-year-old thigh bone found buried in a Spanish cave, known as<a href="https://www.nature.com/nature/journal/vaop/ncurrent/full/nature12788.html"> Sima de Los Huesos, or Pit of Bones.</a>  Apart from the big deal of extracting genetic material from a really, really old bone – the oldest human DNA recovered yet – the find also gives us more information about human evolution, namely that it’s not as linear as some have thought. The DNA in the bone resembled that of ancient humans known as Denisovan.
Because of the time frame and the location, many had thought the bones would be from Neanderthals. The Denisovan DNA was a bit of a head-scratcher. Previous finds placed Denisovans in Siberia and only at about 80,000 years ago. Clearly, this adds more nuances to the story of human evolution. We can also add more pieces to that understanding after another DNA find this year. DNA from the 24,000-year-old skeletal remains of a boy buried near Lake Baikal in Siberia, has also altered researchers&#8217; view of the migration patterns of early Europeans.
The DNA matched not just with Western Europeans but with Native Americans. This suggests that the earliest people to settle the Americas were<a href="http://www.sciencemag.org/content/342/6157/409.full"> a mix of both populations.</a> While previous research has suggested that Native Americans descended from people who migrated from Siberia, this overlap with early Europeans is new. It also suggests that during the last Ice Age, people from Europe had migrated farther east than previously thought.
<h6>ALZHEIMER’S SEQUENCE DATA – CHAPTER ONE</h6>
The more information we can collect from people with the disease, the better we can understand them. Researchers working on Alzheimer’s disease got a huge boost in their efforts this year after the first batch of genetic data was<a href="http://www.nih.gov/news/health/dec2013/nhgri-02.htm"> made available</a> as part of the<a href="https://www.niagads.org/adsp/"> Alzheimer&#8217;s Disease Sequencing Project</a>. The project, conducted by the National Institutes of Health, makes available full genome sequence data on 410 people with Alzheimer’s. The hope is that by offering this information to a wide range of researchers, it will open up the possibility of new discoveries.
<h6>SHARING DATA<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2009/06/atcg-200x200.jpg" alt="DNA code analysis" class="alignright size-thumbnail wp-image-3837" width="200" height="200" /></h6>
Hundreds of institutions worldwide are currently doing clinical and genetic research. If you could share that data and standardize how it is reported, you could make it that much more useful. That’s exactly what more than 70 medical, research and advocacy organizations did this year, the National Institutes of Health among them. They all agreed to set up a system<a href="https://www.broadinstitute.org/news/globalalliance"> to share genetic and clinical information</a>. By creating a database of genetic variation and health information, it would offer researchers, and doctors, a powerful resource for discovery.
Illustrating the power of shared data, using data from the Electronic Medical Records Genomics Network<a href="https://www.genome.gov/27540473"> (eMERGE</a>) for short – researchers have identified dozens of new variants linked to diseases ranging from skin cancer to anemia. The eMERGE data set allowed researchers to search by gene variant to find associated conditions. As the database grows it will allow researchers to discover connections between seemingly unrelated diseases and genetic variants.
The power of big datasets that include not just genetic information but also phenotypic information, is part of what 23andMe is all about. This year 23andMe researchers leverage our database and certain phenotypes to  functionally classify different genetic associations. our researchers presented some of our findings on this at the ASHG conference this year in Boston. Their findings show that on occasion, a single genetic variant will be associated with multiple different phenotypes. So for example, in autoimmune diseases, a single SNP influences multiple different diseases. Sometimes these shared associations are more surprising, such as the genetic association shared by both<a href="https://blog.23andme.com/health-traits/23andmes-latest-publication-shines-light-on-male-pattern-baldness-and-unexpected-associations-with-disease/"> Parkinson’s disease and baldness</a>. We’ve also found correlations between breast cancer and breast size, body mass index and food choice, and hair color and skin cancer.
<h6>MY, WHAT LONG TELOMERES YOU HAVE</h6>
Several papers this year indicate that genetic variants in telomere genes (such as TERT, TERC, POT1, etc.) not only influence the length of telomeres, which in turn is a good indicator of longevity, but those variants are also associated with certain cancers. Researchers in several different Genome-Wide Association Studies have found links to cancers such as multiple myeloma,<a href="https://www.ncbi.nlm.nih.gov/pubmed/23535731"> breast and ovarian cancer</a>, testicular cancer,<a href="https://www.ncbi.nlm.nih.gov/pubmed?cmd=retrieve&#038;list_uids=23143601&#038;dopt=citation"> lung cancer,</a> and chronic<a href="https://www.nature.com/ng/journal/v45/n5/full/ng.2584.html"> lymphocytic leukemia</a>.
<h6>23ANDME AND THE FDA</h6>
It’s not the kind of news we like, but there’s no way for us to do a roundup of the year&#8217;s big stories without mentioning that the FDA in December ordered 23andMe to stop offering new consumers access to their health-related genetic tests, while the company moves through the FDA’s regulatory review process. 23andMe remains committed to being a pioneer in the genetics revolution and has made its work with the FDA its top priority.
Making it all work will be good not just for the FDA and 23andMe, but for the future of the direct-to-consumer genetic testing industry. Individuals who want to understand their genetics will win too – that’s everyone’s goal. Here’s to 2014.

Denisovan