Perhaps the stories are so interesting because they seem so improbable – tales of ordinary people faced with devastating genetic diseases<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-23374" src="https://blog-api.23andme.com/wp-content/uploads/2015/12/Research-Icon-200x200.jpeg" alt="Research Icon" width="200" height="200" /> grabbing a hold of their destiny, doing their own scientific research and making important discoveries.


A recent account featured on<a href="https://www.propublica.org/article/muscular-dystrophy-patient-olympic-medalist-same-genetic-mutation"> This American Life</a> by<a href="http://www.propublica.org/site/author/david_epstein"> David Epstein</a>, a reporter with the non-profit news site Propublica and the author of The Sports Gene, is the latest in a series of stunning stories that highlight what is possible with the right amount of data, diligence and luck.
Epstein’s story looked at Jill Viles and<a href="http://www.gopriscilla.com/"> Priscilla Lopes-Schleip</a>, women who couldn’t seem more different – one a wheelchair-bound Iowan with wilted arms and legs, the other a Canadian Olympian known for her incredible musculature.
They both had mutations in the same gene that causes Dunnigan-type partial lipodystrophy a very rare genetic condition that results in the loss of subcutaneous fat in the limbs. But Jill had one other mutation in that same gene that triggered Emery-Dreifus, a rare type of muscular dystrophy. Epstein focuses on Jill’s incredible do-it-yourself approach to research, first identifying that she had lipodystrophy when she was only an undergraduate, and much later discovering that a connection between that condition and her rare form of muscular dystrophy.
And this story shares some of the same elements as several others we’ve seen recently, in which individuals faced with troubling symptoms and few answers, decide to dive into the science on their own and actually make meaningful discoveries.
One of the more striking stories is a wonderful article that ran last year in<a href="http://www.theatlantic.com/science/archive/2014/08/the-database-of-genetic-mutation/378792/"> The Atlantic</a> by Ed Yong. It focuses on Kim Goodsell, an endurance athlete who taught herself genetics to find out why she suffered from the rare genetic nerve disorder, Charcot-Marie Tooth disease, and another genetic disorder that affects her heart called arrhythmogenic right ventricular cardiomyopathy (ARVC). Smart and driven, Kim, who is not a scientist, was able to figure something out about the conditions that no one else had, that they were connected by mutations in the same gene, LMNA.


Finally there is the story about Eric Minikel and Sonia Vallabh, a married couple who changed their careers and became researchers after they learned that Sonia would likely develop a devastating and fatal neurodegenerative condition. The pair recently authored a paper making<a href="http://stm.sciencemag.org/content/8/322/322ra9.full"> important new findings</a> about prion disease.
There is some debate about whether stories like these represent a harbinger of things or simply edge case exceptions. The efforts featured each of these stories have yet to result in a cure, but each person featured is inspiring for what their efforts represent. Even if these are examples that few others could follow, they do point to the value of enlisting the patient in their own treatment.


As Eric Topol pointed out in Ed Yong’s story:
“People have been talking about empowering consumers since there was an Internet, but finally, we’ve reached a point where someone can delve into their condition beyond what the top physicians at the Mayo Clinic could.”

23andMe Blog

23andMe Blog Team

Citizen Science

If you have an opinion about genetic testing and the best way to return those results, the U.S. Food and Drug Administration (FDA) <img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-6586" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-200x200.jpg" alt="23andMe_Logo_blog" width="200" height="200" />wants to hear it at a daylong workshop scheduled for March 2nd.how


The meeting offers the FDA a chance to get perspectives from the public and medical professionals on how best to convey genetic test results in a way that meets the needs of both patients and practitioners.
The meeting comes on the heels of the ambitious<a href="https://www.nih.gov/precision-medicine-initiative-cohort-program"> Precision Medicine Initiative</a>, announced during last year’s State of the Union address. Genetic testing and patient access and engagement are key components of the initiative.
As such the FDA is “considering new approaches in its regulation” of certain types of genetic testing, according to the<a href="https://www.gpo.gov/fdsys/pkg/FR-2016-01-14/html/2016-00540.htm"> Federal Register</a>. 
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">What: Patient and Medical Professional Perspectives on the Return of Genetic Test Results

When: March 2, 2016 from 8 a.m. to 4 p.m.

Where:<a href="https://www.fda.gov/AboutFDA/WorkingatFDA/BuildingsandFacilities/WhiteOakCampusInformation/ucm241740.htm" target="_blank" rel="noopener noreferrer"> FDA&#8217;s White Oak Campus</a> 
10903 New Hampshire Ave., Bldg. 31 
Conference Center, the Great Room (Rm. 1503) 
Silver Spring, MD 20993
For more information go here.
</div>

As part of the run-up to the meeting, the agency has offered up several case studies with different scenarios involving genetic testing. For instance, how to handle reporting on variants associated with different levels of risks for Alzheimer’s disease, or how to report on results that might include conflicting information or that have limited evidence.
The FDA wants to hear opinions on how best health care professionals should handle this kind of information.
You have three ways to participate:

<ol>
<li>Attend. People who want to attend and give their comments in person must register for the event, which has limited seating. The workshop is scheduled to begin at 8 a.m. ET March 2nd at the FDA’s<a href="https://www.fda.gov/AboutFDA/WorkingatFDA/BuildingsandFacilities/WhiteOakCampusInformation/ucm241740.htm"> White Oak Campus</a> in Silver Springs, Maryland.</li>
<li>Watch Webcast. The meeting will also be Webcast. Comments can be sent in the mail addressed to Division of Dockets Management (HFA-305), FDA, 5630 Fishers Lane, and Rm. 1061, Rockville, MD 20852.</li>
<li>Submit comments online. Comments can also be<a href="http://www.regulations.gov/#!docketDetail;D=FDA-2015-N-4809"> submitted online</a> by March 31st. All submissions, whether done through the mail or online must include reference to: “Docket No.  FDA-2015-N-4809 for `Patient and Medical Professional Perspectives on the Return of Genetic Test Results; Public Workshop; Request for Comments.’”</li>
</ol>

The FDA Wants To Hear Your Opinion

Get two smart people in a room and let them talk.
That’s the premise for astrophysicist Neil deGrasse Tyson’s show “StarTalk,” and it makes for thought-provoking conversations about <img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-23580" src="https://blog-api.23andme.com/wp-content/uploads/2016/02/neil-degrasse-tyson-and-genetics-guru-anne-wojcicki-on-a-future-without-disease-and-much-more-200x200.jpg" alt="neil-degrasse-tyson-and-genetics-guru-anne-wojcicki-on-a-future-without-disease-and-much-more" width="200" height="200" />science.


That’s what Neil got when he sat down with 23andMe’s CEO and co-founder Anne Wojcicki. As part of what Neil is calling his “Innovators” series, Neil started out with questions about why Anne started the company, and 23andMe’s mission.
And he wanted to know about her own hopes for future of 23andMe, but Neil also peppered the conversation with more fanciful and provocative questions about genetics.
Instead of a dystopian science fiction version of the future, Anne said that although there are some things to be concerned about, the possibilities for the future are much more hopeful.


“There’s a massive potential for good,” Anne told Neil.
Check out the conversation.
<script src="https://player.ooyala.com/iframe.js#pbid=3fa6999d63a34b9fbcf1cbbb67046fe6&#038;ec=R0dW9qMDE6XQB6-x1QPGD6CMjXfqpVj2"></script>

Smart Talk

If you don’t know who Evelyn Witkins is perhaps you should.
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<div id="attachment_23398" style="width: 258px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23398" class="size-medium wp-image-23398" src="https://blog-api.23andme.com/wp-content/uploads/2015/12/2015winner_img_witkin-248x300.jpg" alt="Evelyn Witkin." width="248" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/12/2015winner_img_witkin-248x300.jpg 248w, https://blogcms.23andme.com/wp-content/uploads/2015/12/2015winner_img_witkin.jpg 622w" sizes="auto, (max-width: 248px) 100vw, 248px" />Evelyn Witkin.</div>
A legendary figure in genetic science, the 94 year-old professor emerita at Rutgers University was awarded in September a Lasker Prize for Basic Medical Research, sometimes referred to as “America’s Nobel.”
We here at the blog neglected to make note of the award that Witkins shares with fellow scientist <a href="http://researchfaculty.brighamandwomens.org/BRIProfile.aspx?id=3197">Stephen Elledge</a> of Brigham Women Hospital, for their separate discoveries around the “DNA-damage response” – a mechanism that protects DNA against the onslaught of everyday life, whether by chemical, biological or other environmental exposures.

<iframe loading="lazy" width="640" height="360" src="https://www.youtube.com/embed/JmNX9d4D_dY" frameborder="0" allowfullscreen="allowfullscreen"></iframe>

Witkins began her work in the early 1940s at Cold Spring Harbor looking at genetic mutations in bacteria.
When she eventually moved from Cold Spring Harbor to Rutgers, she continued to do genetics research with bacteria and studied how DNA responded to UV radiation. This led her to her work on DNA repair and what she later identified as the DNA-damage response, which was the first “coordinated cellular stress response to be elucidated.”


Stephen Elledge built on that early work first studying the DNA damage response in yeast but moving onto studying this response in human cells and the role it plays in the development of cancer and degenerative disorders.


In <a href="https://www.nytimes.com/2015/12/15/science/evelyn-witkin-and-the-road-to-dna-enlightenment.html?ref=health">an interview</a> with the New York Times, Witkins described her time at Cold Spring Harbor, as a magical time in genetics. Her love of science also comes through in the interview particularly when she described the day she attended the first demonstration on how the genetic code worked, and then later that evening going to a performance of Handel’s “Messiah.”
“I tell you I had the same feeling of exultation that I had in that talk about the genetic code,” she said.

Long Overdue Recognition

Starting in January with the launch of the ambitious Precision Medicine Initiative in the United States, 2015 finished with a <img loading="lazy" decoding="async" class="alignright size-medium wp-image-23080" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/ChromoShareButton-300x158.jpg" alt="ChromoShareButton" width="300" height="158" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/ChromoShareButton-300x158.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/10/ChromoShareButton-768x403.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/10/ChromoShareButton-1024x538.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2015/10/ChromoShareButton-880x462.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2015/10/ChromoShareButton-1180x620.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2015/10/ChromoShareButton.jpg 1200w" sizes="auto, (max-width: 300px) 100vw, 300px" />heated debate around the appropriate use of technology that allows scientists to edit the human genome.
Those two big stories bookended the year showing both the promise and peril of genetics.
2015 triggered  a furious pace in new <a href="https://www.23andme.com/dna-health-ancestry/">genetic insights</a> with all the potential they hold. But with many of these advances comes the weight of new issues to tackle as well. As we head into 2016, we’re taking a moment to look back at some of the highlights of the year including 23andMe’s contributions to the science and discussion around genetics.
<h4></h4>
<h2>Transforming Medical Research<img loading="lazy" decoding="async" class="alignright size-full wp-image-23384" src="https://blog-api.23andme.com/wp-content/uploads/2015/12/Precision-Medicine-Initiative.jpg" alt="Precision Medicine Initiative" width="200" height="125" /></h2>
The Precision Medicine Initiative announced by President Obama in January could help change the face of medicine forever. The effort to sequence a million Americans will depend on the willingness of people to participate in research meant to, as Obama said, &#8220;bring us closer to curing diseases like cancer and diabetes, and to give all of us access to the personalized information we need to keep ourselves and our families healthier.&#8221; It’s the kind of people-powered research model that 23andMe pioneered; one that is about more than just collecting data, but depends on empowering consumers and engaging them in their own health.
<h2>A Banner Year for 23andMe</h2>
While it wasn’t a scientific breakthrough,<img loading="lazy" decoding="async" class="alignright size-medium wp-image-22990" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/anne-wojcicki-cover-228x300.jpg" alt="anne-wojcicki-cover" width="228" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/anne-wojcicki-cover-228x300.jpg 228w, https://blogcms.23andme.com/wp-content/uploads/2015/10/anne-wojcicki-cover-768x1008.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/10/anne-wojcicki-cover-780x1024.jpg 780w, https://blogcms.23andme.com/wp-content/uploads/2015/10/anne-wojcicki-cover-670x880.jpg 670w, https://blogcms.23andme.com/wp-content/uploads/2015/10/anne-wojcicki-cover-899x1180.jpg 899w, https://blogcms.23andme.com/wp-content/uploads/2015/10/anne-wojcicki-cover.jpg 1000w" sizes="auto, (max-width: 228px) 100vw, 228px" />syndrome carrier status report was a huge step for direct-to-consumer health testing in general. It was the first time the US regulatory agency gave such authorization, and it’s laid the groundwork for how to return actionable health results to consumers in a regulated environment. It also was a highpoint in a long list of highpoints for 23andMe, that included launching a <a href="https://www.forbes.com/sites/matthewherper/2015/03/12/23andme-enters-the-drug-business-just-as-apple-changes-it/">Therapeutics group</a> and introducing a newly imagined product experience for customers that included health, ancestry and traits reports and the first-ever genetic test with reports that meet FDA standards.
<h2>The People of the British Isles</h2>
History can be found in our DNA, and new research by scientists at Oxford University found distinctive regional differences in the tight confines of the British Isles. The study, led by Sir Walter Bodmer, also found that there is no single “Celtic” genetic group. Instead the study found that people in the Celtic regions of the UK – Scotland, Northern Ireland, Wales and Cornwall – are among the most genetically diverse in all the United Kingdom. In addition, the researchers estimate that the genetic contributions from Anglo-Saxon migrations – Germanic people who came into the coastal lowlands of the British Isles in the 5th and 6th centuries– to be just under half among people in the south east of England. As with studies done by 23andMe looking at African ancestry in the United States, this fine scale genetic map of the British Isles illuminates historical patterns of migration and distinct regional differences. It even reveals clusters of populations that show similar geographic locations of tribal groupings and kingdoms dating back to the 6th century.
<h2>That Dress</h2>
<div id="attachment_22322" style="width: 208px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22322" class="size-medium wp-image-22322" src="https://blog-api.23andme.com/wp-content/uploads/2015/03/The-Dress-198x300.jpg" alt="IMAGE: TUMBLR / SWIKED" width="198" height="300" />IMAGE: TUMBLR / SWIKED</div>
Scientists at 23andMe ask a lot of questions. It’s their job, and it informs the kind of innovative research 23andMe pioneered. The information we get from people who participate in research is combined with genetic information that feeds into 23andMe’s powerful and novel research model. It’s allowed our scientists to quickly find genetic insights related to human traits, inheritance and disease. A great recent illustration of that came earlier this spring when 23andMe computational biologist Fah Sathirapongsasuti, PhD, tapped into the flurry of conversation created by The Striped Dress, where people saw distinctly different colors: blue and black, or white and gold. In a matter of a few days 23andMe was able to survey about 25,000 customers interested in participating in the study, and make some interesting findings. While there was no clear genetic association, Fah found a small effect size in a gene associated with light perception – ANO6. But it was non-genetic factors – namely a person’s age – that seemed to play the biggest role in why some people saw one pair of colors and others saw something else.
<h2>Got Lactase?</h2>
Nutrient-rich with plenty of vitamin D for the sun-starved in Northern Europe, milk was a kind of superfood of the Bronze Age. But new research published in the spring indicates that it took awhile before Europeans could digest milk, and that trait appears to have been introduced by the Yamnaya, a group of people who migrated into Northern Europe from an area near the Altai Mountains in what is now central Russia.
You can read more<a href="https://blog.23andme.com/health-traits/23andmoo/"> here</a>.
<h2>A Little Buggy</h2>
Some people are just tastier to mosquitoes than others, and that has to do with genetics, according to<a href="http://www.lshtm.ac.uk/newsevents/news/2015/twins_mosquito_study.html"> a twin study</a> done by researchers at the London School of Hygiene &amp; Tropical Medicine. Understanding these differences could help in fighting the spread of devastating mosquito born illnesses like malaria and dengue fever.
<h2>Optimism about Research into Depression</h2>
For the first time ever researchers identified two genetic variants associated with major depressive disorder. In a study published in<a href="https://www.nature.com/news/first-robust-genetic-links-to-depression-emerge-1.17979?WT.mc_id=TWT_NatureNews"> Nature</a> over the summer, scientists at University of Oxford found the genetic variants and were able to replicate their findings. Although previous studies have found genetic associations, unlike with these findings those failed to stand up to further scrutiny. One of the variants identified in this study is near the gene SIRT1, which plays a role in mitochondria, the energy producing organelles of the cell. The findings may help identify drug targets to better treat depression, which affects more than 350 million people.
<h2>Innovation in Diagnosing Parkinson’s</h2>
A team of researchers has developed a simple, non-invasive approach to<a href="http://www.thelancet.com/journals/laneur/article/PIIS1474-4422%2815%2900178-7/fulltext"> diagnosing people with Parkinson’s disease</a>, an illness that is typically very difficult to detect. The model uses a combination of such things as genetic data, family health information, age, and biomarkers like the ability to smell to make a diagnosis. The researchers believe that with some refinements the tool could help in screening and diagnosing individuals for the condition and help in differentiating Parkinson’s disease from other neurological conditions.
<div id="attachment_22837" style="width: 277px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22837" class="size-medium wp-image-22837" src="https://blog-api.23andme.com/wp-content/uploads/2015/09/F1.large-1-267x300.jpg" alt="Composite skeleton of Homo nadeli along with other bones found at the Rising Star Cave in South Africa. Photo: Lee Berger, Wits, photographed at Evolutionary Studies Institute" width="267" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/09/F1.large-1-267x300.jpg 267w, https://blogcms.23andme.com/wp-content/uploads/2015/09/F1.large-1-768x863.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/09/F1.large-1-911x1024.jpg 911w, https://blogcms.23andme.com/wp-content/uploads/2015/09/F1.large-1-783x880.jpg 783w, https://blogcms.23andme.com/wp-content/uploads/2015/09/F1.large-1-1050x1180.jpg 1050w" sizes="auto, (max-width: 267px) 100vw, 267px" />Composite skeleton of Homo nadeli along with other bones found at the Rising Star Cave in South Africa. Photo: Lee Berger, Wits, photographed at Evolutionary Studies Institute</div>
More Cousins
Fossils found in a South African cave could be that of a brand new human ancestor, dubbed<a href="https://blog.23andme.com/ancestry/hello-cousin/"> Homo naledi</a>. The species dates back two million years, and pushes back the age of the genus Homo – which includes modern humans – at least 400,000 years earlier than previously thought.
<h2>Gene Editing</h2>
Few breakthroughs have stimulated more discussion in genetics than the innovative technique to “edit” specific bits of DNA. Called Crispr-Cas9, it offers a simple and quick way of snipping out a sections of DNA and stitching the DNA back together again. In so doing it could be used for all sorts conventional and gene therapies. Yet while the gene editing tool offers intriguing possibilities for “correcting” genetic defects that trigger disease or inherited conditions, it raised huge<a href="https://www.nytimes.com/2015/11/15/magazine/the-crispr-quandary.html"> moral and ethical issues</a>. While the technology has raced ahead, sorting out all the issues it raises has lagged behind. In December scientists from around the world met to discuss the implications in Washington DC and agreed to put a halt to editing of the human genome until clearer lines and standards could be agreed upon although research continues.

This Year’s Top Ten Stories in Genetics

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-17056" title="Christmas Tree" src="https://blog-api.23andme.com/wp-content/uploads/2012/12/ChristmasTree-300x200.jpg" alt="" height="200" width="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/12/ChristmasTree-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/12/ChristmasTree.jpg 424w" sizes="auto, (max-width: 300px) 100vw, 300px" />

Editor&#8217;s note: Recently researchers at UC Davis sequenced the California sugar pine, which is endangered. A few years back they had done the same for the Douglas fir, and we wrote about it. 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.

<img loading="lazy" decoding="async" class="alignright wp-image-17057 size-medium" title="TreeNeedles" src="https://blog-api.23andme.com/wp-content/uploads/2012/12/TreeNeedles-300x204.jpg" alt="" height="204" width="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/12/TreeNeedles-300x204.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/12/TreeNeedles.jpg 420w" sizes="auto, (max-width: 300px) 100vw, 300px" />

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.

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<img loading="lazy" decoding="async" class="alignleft size-full wp-image-12163" title="small_23andMe_logo" src="https://blog-api.23andme.com/wp-content/uploads/2012/04/JRBgdIBXKIeVIdETJrxYIw_ttam_logo.jpg" alt="" height="40" width="24" />
Need a last-minute holiday gift to put under your tree? <a href="https://www.23andme.com/store" target="_blank" rel="noopener noreferrer">Visit our store</a>!
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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.

Happy Holidays

Seth McFarlane brought the humor, Pharrell Williams the glam, and this year’s winners of the<a href="https://breakthroughprize.org/"> Breakthrough Prize</a> brought the wonder of science.
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<div id="attachment_23180" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23180" class="wp-image-23180 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/11/Breakthrough-Winners-300x200.jpg" alt="Image courtesy of the Breakthrough Prize. Credit: GettyImages" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/11/Breakthrough-Winners-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/11/Breakthrough-Winners.jpg 574w" sizes="auto, (max-width: 300px) 100vw, 300px" />Breakthrough Prize winners at the ceremony. Image courtesy of the Breakthrough Prize. Credit: GettyImages</div>
At a glitzy awards ceremony broadcast live from Silicon Valley Sunday night on the National Geographic Channel, the winners were singled out for their achievements in fields ranging from mathematics, to fundamental physics and life sciences.
“By challenging conventional thinking and expanding knowledge over the long term, scientists can solve the biggest problems of our time,” said Facebook’s Mark Zuckerberg, who with his wife Priscilla Chan helped establish the prize along with Google’s Sergey Brin, Jack Ma, of Alibaba, Internet entrepreneur Yuri Milner, and 23andMe’s very own Anne Wojcicki.


“The Breakthrough Prize honors achievements in science and math so we can encourage more pioneering research and celebrate scientists as the heroes they truly are,” Zuckerberg said.


Now in its third year, the prize turns the table on celebrity culture by having stars hand out awards to the luminaries who have made outstanding contributions to math and science. This year’s awards were no different with Academy Award winners Russell Crowe and Hillary Swank, as well as pop singer Christina Aguilera, among those handing out the trophies.


“Tonight we put the spotlight where it belongs,” said Aguilera.
<div id="attachment_23181" style="width: 244px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23181" class="wp-image-23181 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/11/Anne-234x300.jpg" alt="Anne" width="234" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/11/Anne-234x300.jpg 234w, https://blogcms.23andme.com/wp-content/uploads/2015/11/Anne.jpg 447w" sizes="auto, (max-width: 234px) 100vw, 234px" />23andMe&#8217;s CEO and co-founder Anne Wojcicki. Photo courtesy of The Breakthrough Prize. Photo credit: Getty Images.</div>
This year’s prizes included awards to the five teams of more than one thousand scientists from around the world that have made new discoveries around the oscillation of neutrinos, one of the fundamental particles of the universe; as well as an award to mathematicians who’ve solved the long standing problems of symplectic geometry, Riemannian geometry and differential geometry.


But for us here at 23andMe, we were particularly interested in the awards handed out for work in the life sciences.
“This year’s laureates have all opened up ways of understanding ourselves,” said Anne, 23andMe CEO and co-founder. “In the life sciences, they have pushed forward new ideas about Alzheimer’s, cholesterol, neurological imaging and the origins of our species. And for that we celebrate them.”


Among the winners were Svante Paabo, of the Max Planck Institute for Evolutionary Anthropology, who pioneered the sequencing of ancient DNA. His work sequencing the Neanderthal DNA has helped change our fundamental understanding of human evolution.
Also recognized for his achievement was <a href="https://www.ucl.ac.uk/rlweston-inst/people/john">John Hardy</a>, of University College London, for discovering the variants in the Amyloid Precursor Protein (APP) gene that causes early onset Alzheimer’s disease. The discovery has helped give us greater insight into how the accumulation of APP-derived beta-amyloid peptide leads to Alzheimer’s and will help map out ways to better treat the disease.


And finally, also particularly inspiring for the researchers at 23andMe is the work of awardee <a href="http://profiles.utsouthwestern.edu/profile/13232/helen-hobbs.html">Helen Hobbs</a>, of the University of Texas Southwestern Medical Center and Howard Hughes Medical Institute. Dr. Hobbs was singled out for her discovery of human genetic variants in the gene PCSK9 that trigger the clearance of cholesterol and other lipids and protect against heart disease. The discovery of this protective variant has led to the development of two new drugs that are saving people’s lives.
In all a combined $21.9 million was awarded to the winners.
To find out more or to see the full list of winners <a href="https://breakthroughprize.org/News/29">go here</a>.

Science’s Rock Stars

23andMe&#8217;s had a busy week with a lot of media coverage of our new customer experience.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23116" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/Anne-@-CBS-300x169.jpg" alt="Anne @ CBS" width="300" height="169" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/Anne-@-CBS-300x169.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/10/Anne-@-CBS.jpg 640w" sizes="auto, (max-width: 300px) 100vw, 300px" />
For everyone here at 23andMe, the notice is a nice moment after <a href="https://www.fastcompany.com/3052283/most-creative-people/how-ceo-anne-wojcicki-turned-23andme-around-after-falling-out-with-the-">two years of hard work</a>.
A lot went into the new experience, from extensive consumer comprehension studies to creative design work that better communicates sometimes <a href="https://www.23andme.com/membership" target="_blank" rel="noopener">complicated genetic results</a>, to hard science. In the end, we think all that work made a product that was already great, even better.


23andMe’s mission hasn’t changed. It’s still about finding the best tools to help people access, understand and benefit from the human genome. We think getting this right is important, and not just for us as a business. Empowering consumers with this information has the potential of impacting people&#8217;s lives, as our CEO and co-founder Anne Wojcicki told Fast Company.


&#8220;I think a lot about the consumer health movement, and I believe this is an important step forward,” Anne said.


Here&#8217;s a short round-up of some of the coverage:

&#8211; <a href="https://www.cbsnews.com/news/ceo-anne-wojcicki-on-return-of-23andme-direct-to-consumer-genetic-testing-privacy-of-data/" target="_blank" rel="noopener noreferrer">23andMe CEO on resuming genetic testing</a>


&#8211; <a href="https://www.fastcompany.com/3052553/behind-the-brand/23andmes-genetic-tests-are-back-on-the-market-and-they-doubled-the-price?partner=rss" target="_blank" rel="noopener noreferrer">23andMe&#8217;s genetic health tests are back on the market </a>
&#8211; <a href="http://www.usatoday.com/story/tech/2015/10/21/23andme-reboots-service-anne-wojcicki/74281804/">23andme relaunches its expanded DNA spit tests after FDA-mandated pause</a>
&#8211;
<a href="https://www.forbes.com/sites/matthewherper/2015/10/21/23andmes-triumph-and-the-long-road-ahead/">23andMe&#8217;s Triumph &#8212; And The Long Road Ahead</a>


&#8211; <a href="https://www.genomeweb.com/scan/23andme-back-health-game">23andMe, Back in the Health Game</a>
&#8211; <a href="https://www.bloomberg.com/news/articles/2015-10-21/23andme-s-new-dna-test-restores-some-health-analysis-for-199">23andMe&#8217;s New DNA Test Restores Some Health Analysis for $199</a>

23andMe In The News

Growing up 23andMe’s chief science officer Richard Scheller, Ph.D., had classmates in his elementary school, who wanted to be a firemen, police officers and astronauts.
Richard always wanted to be a scientist.
<div id="attachment_22312" style="width: 305px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22312" class="size-full wp-image-22312" src="https://blog-api.23andme.com/wp-content/uploads/2015/03/Headshot-Richard-Scheller.jpg" alt="Dr. Richard Scheller" width="295" height="197" />Dr. Richard Scheller</div>
“My classmates had posters of rock bands or cars on the walls in their bedrooms,” he said. “I had the periodic table of the elements.”


That singular focus and a lifetime of scientific accomplishments was recognized this week when Dr. Scheller was named to the<a href="http://www.national-academies.org/"> National Academy of Medicine</a>.


“I’m honored to join such a prestigious group of scientists,” Dr. Scheller said after learning of his nomination.


Considered one of the highest honors in the field of health and medicine, membership to the academy is given to those recognized for outstanding professional achievements who also have had a commitment to service. More than 300 of its members are also Nobel laureates.
For Dr. Scheller, membership adds to the long list of accomplishments he’s made over his distinguished career that includes achievements not just in business, but in academia and research.
Dr. Scheller joined 23andMe to lead the new therapeutics group, which is tasked with leveraging the company’s innovative research model to find and develop new treatments for diseases. When he came on board, 23andMe’s president Andy Page, noted how fortunate the company was to have him, calling Dr. Scheller a “visionary.”  
Even in his short time with the company,  Scheller and his team have made great progress, Page said.
Before coming to 23andMe, Dr. Scheller served as executive vice president for research and early development at Genentech for almost 15 years. Prior to that he spent almost two decades at Stanford University serving as a professor in the Department of Biological Sciences and in the Department of Molecular and Cellular Physiology as well as working as an investigator at the Howard Hughes Medical Institute at the Stanford University Medical Center.
Two years ago, Dr. Scheller received the Albert Lasker Basic Medical Research Award for his discoveries concerning the molecular machinery and regulatory mechanism that underlie the<a href="http://blogs.nature.com/spoonful/2013/09/lasker-awards-go-to-rapid-neurotransmitter-release-and-modern-cochlear-implant.html"> rapid release of neurotransmitters</a>. Considered one of the most respected science prizes in the world, the Lasker Award is sometimes referred to as “America’s Nobel.”
Last year, Dr. Scheller received a CalTech Distinguished Alumni Award for his work, and in 2010 he received a<a href="http://www.kavliprize.org/prizes-and-laureates/laureates/richard-h-scheller"> Kavli Prize</a>, and he has a U.S. National Academy of Sciences Award in Molecular Biology.
Along with now being part of the National Academy of Medicine, Dr. Scheller is also a member of the National Academy of Arts &amp; Sciences, and the National Academy of Sciences.
He serves on the board of trustees for the California Institute of Technology and as an adjunct professor in the Department of Biochemistry and Biophysics at the University of California, San Francisco. He has published more than 280 research studies.

News — Page 17