As the series <a href="https://www.pbs.org/wnet/finding-your-roots/">Finding Your Roots with Henry Louis Gates, Jr.</a> begins its 10-week run on PBS, The Blog will feature posts from 23andMe’s Ancestry Ambassadors featuring their own stories about using DNA to dig into ancestry.
By CeCe Moore
You never know what a DNA test might reveal!
A few months ago, spurred on by my interest in genetic genealogy, my sister Erin decided to order a DNA test from <a href="https://www.23andme.com/" target="_blank" rel="noopener noreferrer">23andMe</a> for my brother-in-law John Huffer. Since John has never known his father, we didn&#8217;t really know what his results would show. His mother&#8217;s family has a strong oral tradition of Native American ancestry, so we expected some mixed ancestry. However, what we found was completely unexpected.
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Our Ancestry Ambassadors
<img loading="lazy" decoding="async" class="aligncenter wp-image-11812 size-full" title="Ambassadors" src="http://35.88.189.111/wp-content/uploads/2012/03/Ambassadors-scaled.jpg" alt="" width="2560" height="1969" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/Ambassadors-scaled.jpg 2560w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Ambassadors-300x231.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Ambassadors-768x591.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Ambassadors-1024x788.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Ambassadors-880x677.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Ambassadors-1180x908.jpg 1180w" sizes="auto, (max-width: 2560px) 100vw, 2560px" />Ancestry Ambassadors from left to right, top row, Dr. Ann Turner, Larry Vick, Shannon Christmas, bottom row, Dr. Tim Janzen, Andrea Badger and CeCe Moore.
As the series <a href="https://www.pbs.org/wnet/finding-your-roots/" target="_blank" rel="noopener noreferrer">Finding Your Roots with Henry Louis Gates, Jr. </a>begins its 10-week run on PBS, The Blog will feature posts from 23andMe’s Ancestry Ambassadors.  They’ll be writing about how they’ve used DNA to dig into the roots of their own families’ histories.
With our Ancestry Ambassadors, we’ve been lucky to bring together a group of people who are not just enthusiastic about ancestry, but who also have garnered a reputation in the 23andMe’s community of users as trusted sources and helpful guides.
We created our Ancestry Ambassadors group to help us build the best service possible. They’ve already helped, by spending a day and talking to our scientists, engineers and our CEO Anne Wojcicki offering ideas for improving <a href="https://www.23andme.com/dna-ancestry">23andMe’s ancestry tools</a>.
Members of the group – CeCe Moore, Dr. Tim Janzen, Dr. Ann Turner, Andrea Badger, Larry Vick and Shannon Christmas – also got a chance to learn a little bit more about 23andMe’s research mission.
Each member of the group had ideas about improving the overall experience of using 23andMe, including more voices from users. Opening up the blog to guests like our Ancestry Ambassadors is one way to do that.
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His Ancestry Painting, in the image below, revealed that about five percent of his ancestry is African.   23andMe&#8217;s Ancestry Painting examines the 22 pairs of chromosomes one segment at a time and determines for each stretch whether it was most likely inherited from ancestors in Africa, Europe, or Asia and &#8220;paints&#8221; the segments based on that different ancestry.
I had never investigated John&#8217;s family tree before, but my curiosity was piqued. Fairly quickly it became obvious that his was no run-of-the-mill genealogy. John&#8217;s mother&#8217;s family traces straight back to Madison Hemings. That name may be familiar to you. Madison Hemings was the son of Sally Hemings, a mixed-race slave of Thomas Jefferson, our third president and author of the Declaration of Independence. My genealogy research clearly showed that Thomas Jefferson and Sally are John&#8217;s fourth great-grandparents!*
John has always especially admired Thomas Jefferson above all other historical figures and felt a special affinity to Monticello when he first visited there ten years ago, although he had absolutely no idea of his familial connection. When I first relayed my findings to John and my sister, they were, understandably, shocked. Once they started browsing the Internet in search of more information, they came across a very familiar photo on one of the websites about Monticello. An original of this very photo had hung in John&#8217;s house growing up. Further investigation shows that his mother had at least a vague knowledge of her family&#8217;s relationship to Thomas Jefferson and/or Sally Hemings, but did not pass it on to her children.
There have been a number of interesting &#8220;coincidences&#8221; involving the Huffers and Monticello that make one ponder on genetic memory. When John and my sister first visited Monticello on an anniversary trip ten years ago, they loved it so much that they decided to go back the very next year with their daughter Courtney.
<img loading="lazy" decoding="async" class="alignright wp-image-11936" title="JohnHuffer AncestryPainting" src="https://blog-api.23andme.com/wp-content/uploads/2012/03/JohnHuffer-AncestryPainting-196x300.jpg" alt="" width="215" height="301" />John Huffer&#8217;s Ancestry Painting. The green segments represent his African ancestry. 
When Courtney entered the dining room of Monticello, she promptly passed out. Although her reaction could be attributed to the hot, humid day, it bears notice that this was the one and only time that Courtney has ever fainted. This was long before the family knew about their personal connection to the place or the families that lived there.   Courtney says that although she felt &#8220;overwhelmed&#8221; at Monticello, she also &#8220;felt at home&#8221;. Recently, the family visited Monticello for the first time since discovering their relationship to it and its previous inhabitants. John and Courtney both said that Monticello &#8220;seems like a happy place&#8221; and gave them a sense of belonging.
Since John had never had any relationship with his father&#8217;s family and had very little contact with his mother&#8217;s side, he says it was as if they &#8220;had no history&#8221;. Erin relates, &#8220;It&#8217;s been fun for John to finally have a legacy of some sort, not to mention one as interesting as this,&#8221; and goes on to say that this discovery has finally given John and his siblings &#8220;a sense of who they are and where they came from.&#8221; John’s young nephew Joshua tells me that learning about his illustrious roots has inspired him to strive to make more of his life and given him the confidence that he can indeed achieve his ambitious goals.
<img loading="lazy" decoding="async" class="alignright size-full wp-image-11800" title="JohnHuffer" src="https://blog-api.23andme.com/wp-content/uploads/2012/03/JohnHuffer.jpg" alt="" width="300" height="402" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/JohnHuffer.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/03/JohnHuffer-224x300.jpg 224w" sizes="auto, (max-width: 300px) 100vw, 300px" />John Huffer at Monticello
The discovery has been meaningful for John, once a fatherless little boy, who can now take comfort and pride in the knowledge that he is directly descended from one of the Founding Fathers of our country! During his most recent visit to Monticello, he couldn&#8217;t help but wonder if his deep love of Paris is simply a coincidence or caused by the same unknown spark that made Thomas Jefferson fall in love with it so long ago. Or, if his fascination with the art of brewing beer could have come from his forebearers, whom he learned on his visit were expert brewers at Monticello. It is wonderful for John and his family to finally have these types of questions about their ancestry to ponder; questions that most of us take for granted.
DNA testing has come full circle for genetic genealogy with John&#8217;s story. It is fitting that one of the very first public uses of DNA for genealogical purposes was the Y-DNA test in 1998 that originally addressed the controversy surrounding the paternity of Sally Hemings&#8217; children. Today, more than a decade later, the simple decision to test with 23andMe is what led John to make this illuminating discovery about his roots.
<img loading="lazy" decoding="async" class="alignright size-full wp-image-11801" title="John&amp;Courtney Huffer" src="https://blog-api.23andme.com/wp-content/uploads/2012/03/JohnCourtney-Huffer.jpg" alt="" width="300" height="402" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/JohnCourtney-Huffer.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/03/JohnCourtney-Huffer-224x300.jpg 224w" sizes="auto, (max-width: 300px) 100vw, 300px" />John and Courtney Huffer, descendants of Thomas Jefferson at Monticello
[*Although some Jefferson researchers had disputed the validity of the claims that Sally&#8217;s children were fathered by Thomas Jefferson, most of these doubts were put to rest after a 1998 Y-DNA test on Sally&#8217;s son Eston&#8217;s direct male line descendants proved that they carry the Y chromosome of Thomas Jefferson&#8217;s male line. Although Madison has no living direct line male descendants who could have their Y-Chromosome DNA tested to further support this claim, it is now widely accepted that Thomas Jefferson fathered all of Sally’s children. This is supported by oral histories of Sally&#8217;s descendants and analysis of the couple’s relationship and time spent together. Annette Gordon-Reed provides a detailed look at this evidence in her exhaustive study and Pulitzer Prize winning book, &#8220;The Hemingses of Monticello&#8221;. The official Jefferson Monticello website also addresses this <a href="http://www.monticello.org/site/plantation-and-slavery/thomas-jefferson-and-sally-hemings-brief-account" target="_blank" rel="noopener noreferrer">issue</a>. John’s discovery has sparked my interest in this fascinating subject. As a result, I am spearheading an autosomal DNA project on the descendants of Sally Hemings. Although it is now generally recognized that Thomas Jefferson fathered all of Sally Hemings&#8217; children, it has been impossible to determine with certainty. The introduction of autosomal DNA testing has changed this. Through autosomal DNA testing of specific individuals, I hope to be able to demonstrate that the descendants of Sally Hemings share blocks of DNA with Jefferson&#8217;s “legitimate” descendants. If it is not possible to procure DNA from any of these known descendants, I will seek DNA from descendants of individuals one step further back in Thomas Jefferson&#8217;s pedigree in an attempt to show that Sally&#8217;s descendants possess DNA from Jefferson&#8217;s ancestral lines. Since autosomal DNA undergoes random recombination with each successive generation, it will be necessary to test the oldest living descendants of these lines. DNA is the perfect tool for this because it does not harbor any prejudice or predetermined notions. Anyone who fits these parameters should contact me at <a href="mailto:yourgeneticgenealogist@gmail.com">yourgeneticgenealogist@gmail.com</a>.]
23andMe provides genetic testing services for informational purposes; your results may or may not help you to search for or identify relatives or family members.
<img loading="lazy" decoding="async" class="alignright size-full wp-image-11797" title="CeCephoto" src="https://blog-api.23andme.com/wp-content/uploads/2012/03/CeCephoto.jpg" alt="" width="114" height="162" />
CeCe Moore is a genetic genealogist specializing in the use of autosomal DNA for genealogy. She writes the popular blog  <a href="http://yourgeneticgenealogist.com/">Your Genetic Genealogist</a> and works as a television producer with StudioINTV.   CeCe is the Southern California Regional Coordinator for the International Society of Genetic Genealogy (ISOGG) and a member of Mensa.  Her favorite genetic experiment is her seven-year-old son, Nicolas.

CeCe Moore

DNA Tests Uncover African Ancestry and Surprising Connection to Thomas Jefferson

<img loading="lazy" decoding="async" class="alignnone size-medium wp-image-11941" src="https://blog-api.23andme.com/wp-content/uploads/2012/03/Sport-Fan-300x199.jpg" alt="" width="300" height="199" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/Sport-Fan-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Sport-Fan.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />
It’s that time of year again. That’s right&#8230; it’s <a href="https://en.wikipedia.org/wiki/NCAA_Men%27s_Division_I_Basketball_Championship" target="_blank" rel="noopener noreferrer">March Madness</a> and time to follow your favorite U.S. college basketball teams during playoffs. Some of you may be baffled by how much mental energy, time, and money Americans invest in sporting events, but those who participate will expound on the excitement of watching spectacular athletes and the thrill of competition, or simply the fun of betting on the outcome.
Investigating the different angles of March Madness turns out to be pretty interesting from a genetic perspective. First there is the genetics underlying athleticism, a trait that combines physical attributes like strength, coordination and stamina along with psychological behaviors – the ability to focus, to persevere and to compete. Then there is the genetics of the “spectator” who nearly becomes obsessed with basketball in these last two weeks of March. 
 
Genetic factors for the basketball player 
Being tall and getting across the court quickly might make you a better basketball player. Although height clearly has many contributing environmental factors, it also has a <a href="https://www.23andme.com/health/Height/" target="_blank" rel="noopener noreferrer">strong genetic component</a> and researchers have found several inherited factors that contribute to height in people of European descent. For instance, those with at least one T at rs6060371 and one C at rs1042725 tended to be slightly taller on average.
As for dashing across the court, <a href="https://www.23andme.com/health/Muscle-Performance/" target="_blank" rel="noopener noreferrer">research suggests</a> that a SNP in the ACTN3 gene known as “R577X” (rs1815739) is linked to “fast-twitch” muscle fiber function. <a href="http://www.23andme.com/topics/wellness/muscle-composition/">Fast-twitch muscle fibers</a> are important for power events like sprinting and the C version of this SNP is carried by many world-class sprinters and some endurance athletes.
Although it’s likely that there are additional genetic and environmental factors that influence whether you’ll become a basketball star, these are a few that might help you make that basket.
Genetic factors for the spectator 
Unfortunately much less is known about why some people love watching basketball (or sports in general) and to our knowledge, scientists haven’t yet correlated genetic factors with this interesting behavior! It’s possible, however, that sex and environment are involved. One <a href="http://www.questia.com/googleScholar.qst?docId=5002364547" target="_blank" rel="noopener noreferrer">study</a> showed that women are just as likely as men to report being sport fans, but men overall participate in more fan behavior. Women also seem to watch sports more if they do so with family and friends, though men follow sports because they themselves play and they enjoy the trivia aspect of following sports.
So whether you are an aspiring basketball player, a passionate spectator, or simply enjoy watching curiously from afar, it’s clear that the genetics underlying March Madness is very complex. Perhaps with time researchers will sort out the role of genetics in these two very interesting arenas of athleticism and fan behavior.

23andMe Blog

23andMe Blog Team

Did You Know? Genetics Might Influence “March Madness”

<img loading="lazy" decoding="async" class="alignnone wp-image-11835" src="https://blog-api.23andme.com/wp-content/uploads/2012/03/Shar-Pei-200x300.jpg" alt="" width="200" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/Shar-Pei-200x300.jpg 200w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Shar-Pei.jpg 283w" sizes="auto, (max-width: 200px) 100vw, 200px" />
<div style="width: 350px; background-color: #eeeeee; padding: 15px; margin-left: 10px; text-align: center; padding-bottom: 20px; font-size: 14pt;"><a href="http://www.nationalpuppyday.com/" target="_" rel="noopener">March 23rd is National Puppy Day!</a></div>
How did the Shar-Pei get his wrinkly skin? The question sounds like the beginning of one of Kipling’s “Just So” stories, but this and other questions were the subject of a recent genetics study. What gives some breeds their Lilliputian legs and others their lengthy limbs? Why do some breeds have docile dispositions and others tenacious temperaments?
The answers may lie in their doggy genes.
This study is not the first in canine genetics, and several genes have already been associated with size (IGFI), coat type (RSPO2, FGF5, KRT71), coat color (MITF, CBD103), short limbs (FGF4), snub noses (THBS2), and wrinkly skin (HAS2).
This new <a href="https://www.ncbi.nlm.nih.gov/pubmed/22022279" target="_" rel="noopener">study</a>, however, is different because the researchers developed a new DNA chip that analyzes the canine genome in higher resolution, and they used it to focus on behavioural traits as well as physical traits Altogether, the international group of scientists led by Matthew Webster &#8212; spanning France, Sweden, Finland, Spain, Denmark, and the United States &#8212; looked at the genetics of 509 dogs from 46 different breeds.

Although dogs were domesticated from wolves over 15,000 years ago, only in the last few centuries did dogs fan out into the distinct breeds we have today. Normally evolution is propelled by survival fitness; animals that survive better reproduce better, passing on their genetics and unique traits. &nbsp;In the case of dogs, however, the selective pressure was artificial. &nbsp;
Instead of fitness being based on increased survival in the wild, dogs were bred for size, disposition, and other traits that were deemed desirable by their owners.
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<img loading="lazy" decoding="async" class=" wp-image-11834" src="https://blog-api.23andme.com/wp-content/uploads/2012/03/breedTree-300x291.gif" alt="" width="300" height="291" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/breedTree-300x291.gif 300w, https://blogcms.23andme.com/wp-content/uploads/2012/03/breedTree-768x746.gif 768w, https://blogcms.23andme.com/wp-content/uploads/2012/03/breedTree-1024x994.gif 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/03/breedTree-880x854.gif 880w" sizes="auto, (max-width: 300px) 100vw, 300px" />Figure 1 of the 2011 PLoS Genetics paper clusters 509 dogs based on their genetic similarity. In this figure, dogs that are genetically similar to each other are grouped together, and, not surprisingly, this grouping corresponds quite well with breed (dogs of the same breed are grouped together). Some breeds do cluster together (for instance, all the retrievers are clustered together, as are the all the spaniels), but the relatively long branches connecting dogs within the same breed and the relatively short branches connecting the different breeds together is consistent with breeds which originated from a common dog gene pool long ago and have remained quite distinct. Image from <a>Vaysse A, et al. PLoS Genet. (2011) vol. 7 iss. 10 pp. e1002316</a>.
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This study by Webster and his colleagues suggests that the artificial evolution of dogs into their distinct breeds was very fast and very directed: even breeds within typically recognized subgroups (e.g. retrievers, spaniels, setters, and terriers) diverged from each other quite early. For example, Golden Retrievers and Labrador Retrievers are now quite genetically distinct after only a few centuries of breeding. A striking figure from their paper illustrates this concept.
Webster’s team further showed that some well-recognized dog traits can be traced to specific genetic variations, even across breeds.
For instance, they found a novel association between a region on chromosome 1 and curly tails across several breeds. In addition, ear morphology (pricked ears vs. dropped ears), size, and “boldness” of &nbsp;disposition (as measured by the Swedish Kennel Club) are all associated with genetic variation within one section of chromosome 10. They also found that the boldness trait was associated with the other two traits: all of the small, pricked-eared breeds studied were categorized as “bold” and all of the large, drop-eared breeds were categorized as “non-bold,” except for the Bernese Mountain Dog. &nbsp;
The researchers suggest that breeders may have optimized for certain ear morphologies, sizes, and/or degrees of boldness, thus putting selective pressure on this region of chromosome 10.
In addition to traits selected for in multiple breeds, the study also addressed a handful of more unusual traits that occur in only one or two breeds. Confirming earlier findings, Webster’s results suggest that the real story behind the Shar-Pei’s wrinkled skin may lie with mutations near the HAS2 gene on chromosome 13.
Likewise, their findings support the previously held hypothesis that the Dachshund’s short limbs may be due to mutations near the FGF4 gene on chromosome 18. These genetic regions are quite distinct from the corresponding regions in other breeds, representing a signal for active selection.
The delightfully friendly disposition of the Golden Retriever, the comically short gait of the Dachshund, and the adorably furrowed hide of the Shar-Pei are no accident. &nbsp;
These and the many other charming (and sometimes useful) attributes exhibited by modern breeds are the result of strong selective pressures, as this work illustrates. Dogs perfectly suit humans because they were bred to perfectly suit us. Of course the dog is “man’s best friend” &#8212; with such a pedigree, how could it be anything else?

How Did the Shar-Pei Get His Wrinkly Skin?

Clinical trials are often conducted at major hospitals and medical centers.    As you can imagine, it can be expensive to use hospital resources and take a large amount of  doctors’ and nurses’ time.
<img loading="lazy" decoding="async" class="alignright wp-image-11765 size-full" title="Togethermakedifference" src="http://35.88.189.111/wp-content/uploads/2012/03/Togethermakedifference.jpg" alt="" width="369" height="382" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/Togethermakedifference.jpg 369w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Togethermakedifference-290x300.jpg 290w" sizes="auto, (max-width: 369px) 100vw, 369px" />
It can also be difficult to find people to participate in clinical trials.    For those who do participate, it can be very time consuming.    For example if a person does not live  near the hospital where the trial is being conducted, the travel back and forth to doctor appointments alone can be a hardship.
We believe that people deserve better.    When we started 23andMe, our dream was to change how we approach clinical trials.    We want to make it less expensive, less  time consuming and ultimately speed the pace of meaningful research and discoveries.
Today — we feel like things are starting to change.    This week we announced that 23andMe and Genentech launched <a href="https://www.23andme.com/invite-study/">an online breast cancer study</a> to learn more about  how genes influence a person&#8217;s response to bevacizumab (also known as Avastin ®) in the treatment of metastatic breast cancer.
We are looking for 1,000 women with metastatic breast cancer who took bevacizumab in 2010 or 2011.  Normally this kind of clinical trial would take years to do.  We believe that by  leveraging the web and modern technology we can do this study much faster, more effectively and for less money.
We salute Genentech for seizing the opportunity to rethink the approach to researching medicines with this first-of-its-kind clinical trial.  Technology has improved our  lives and will hopefully soon improve all our health care.
Bevacizumab is not approved by the FDA for the treatment of breast cancer. The InVite study is for research purposes only.
For more information on bevacizumab visit  <a href="http://www.gene.com/gene/products/information/oncology/avastin" target="_blank" rel="noopener noreferrer">http://www.gene.com/gene/products/information/oncology/avastin</a>. For more information on 23andMe&#8217;s and Genentech&#8217;s online metastatic breast cancer study visit <a href="https://www.23andme.com/invite-study/#">https://www.23andme.com/invite-study/#</a>.
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Breast Cancer Research Goes Online

<img loading="lazy" decoding="async" class="wp-image-11716 size-full alignright" src="http://35.88.189.111/wp-content/uploads/2012/01/Q1-2012-Health-Watch-Word-Cloud.png" alt="" width="1496" height="692" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/01/Q1-2012-Health-Watch-Word-Cloud.png 1496w, https://blogcms.23andme.com/wp-content/uploads/2012/01/Q1-2012-Health-Watch-Word-Cloud-300x139.png 300w, https://blogcms.23andme.com/wp-content/uploads/2012/01/Q1-2012-Health-Watch-Word-Cloud-768x355.png 768w, https://blogcms.23andme.com/wp-content/uploads/2012/01/Q1-2012-Health-Watch-Word-Cloud-1024x474.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/01/Q1-2012-Health-Watch-Word-Cloud-880x407.png 880w, https://blogcms.23andme.com/wp-content/uploads/2012/01/Q1-2012-Health-Watch-Word-Cloud-1180x546.png 1180w" sizes="auto, (max-width: 1496px) 100vw, 1496px" />
Like many people around the world, the health content team at 23andMe rang in 2012 with resolutions of staying healthy and it seemed fitting to delve into the genetics underlying response to diet and exercise, eating behavior and cholesterol levels. As we eased in to the new year, we segued into reproduction, updating our existing reports on male infertility and gestational diabetes, and we also recently added new genetic associations for tuberculosis susceptibility, Hodgkin lymphoma, and atopic dermatitis.
In the end of February we paid tribute to rare diseases by celebrating <a href="../2012/02/29/did-you-know-its-not-so-rare-to-have-a-rare-disease/" target="_blank" rel="noopener">Rare Disease Day</a> and putting out new reports for <a href="https://www.23andme.com/sarcoma/" target="_blank" rel="noopener">sarcoma</a> and <a href="https://www.23andme.com/mpn/" target="_blank" rel="noopener">myeloproliferative neoplasms (MPN)</a> –  rare cancers that we are particularly passionate about as evidenced by our <a href="../2012/02/27/weve-come-a-long-long-way-together-but-were-not-there-yet/" target="_blank" rel="noopener">innovative research efforts</a> for these conditions.
Read more about some of our new and updated reports…
<h6>Tying genetics to diet and exercise</h6>
Does exercise help you lose weight or does it barely seem to make a difference? Have you ever wondered why some people who eat a lot of fatty foods don’t gain weight while others seem to pack on the pounds? Our Response to Exercise and Response to Diet reports may provide insight into the genetics underlying these complex topics that are already known to be strongly influenced by behavior and environment. Similarly, if you tend to reach for second helpings, our report on eating behavior may also shed some light!
<h6>Insight into your cholesterol</h6>
Have you ever wondered why your LDL cholesterol level is naturally low or why it seems to stay high despite your best efforts to lower it? Towards the end of January we added a new report for LDL cholesterol – the “bad” cholesterol that is associated with heart disease – and updated our report on HDL cholesterol, which is the “good” cholesterol that is considered protective against heart disease. These reports may offer some clues for you,  but it’s important to keep in mind that the genetic landscape of cholesterol levels is highly complex and that lifestyle also plays a big role.
<h6>Genetic findings on reproductive health in Asians!</h6>
Sexual reproduction is what keeps the human species going, but from getting pregnant to having a healthy child, it doesn’t always work like a well-oiled machine. Approximately 15% of couples experience difficulties getting pregnant and <a href="../2012/02/06/snpwatch-genetic-variants-linked-to-male-infertility-in-asians/" target="_blank" rel="noopener">about half of these cases</a> are due to male infertility. We’ve updated our Male Infertility report to include genetic variants that influence sperm count in Asian men. In February we also added new findings for Asian women to our report on gestational diabetes, a pregnancy complication with symptoms similar to type 2 diabetes that affects about 3-5% of pregnant women.
<h6>Revving up reports for rare diseases</h6>
In the United States, a disease is defined as “rare” if it affects<a href="http://rarediseaseday.us/about/" target="_blank" rel="noopener"> fewer than 200,000 individuals</a>, or roughly one in 1500. Sarcoma and myeloproliferative neoplasms (MPN) fall into this category and in early March we added new reports for both of these rare cancers. Although these reports are considered “preliminary research” findings, mainly because they were generated with relatively small study groups, they are still exciting progress in research on these rare disorders.
23andMe customers can find more details on these and other conditions in their accounts. Not a member? <a href="https://www.23andme.com/store" target="_blank" rel="noopener">Visit our store</a>, or set up a<a href="https://www.23andme.com/user/signup/" target="_blank" rel="noopener"> free trial account</a> to browse these and other reports.

Health Watch: New Year’s Resolutions, Reproduction and Rare Diseases

As a PBS cameraman recorded the scene, 23andMe scientist Mike Macpherson drew lines connecting photographs of about two dozen celebrities to one another while  Henry Louis Gates Jr. riffed on what those links all mean.
<img loading="lazy" decoding="async" class="aligncenter wp-image-11613 size-medium" title="skip" src="http://35.88.189.111/wp-content/uploads/2012/03/skip-300x273.jpg" alt="A photo of professor Henry Louis Gates Jr. preparing for filming of the PBS documentary Finding Your Roots at 23andMe headquarters." width="300" height="273" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/skip-300x273.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/03/skip-768x699.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/03/skip-1024x932.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/03/skip-880x801.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/03/skip-1180x1074.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />
The connections were sometimes direct family relations, but more often than not, each celebrity was connected through one, two, or three others—cousins related to each notable person through common ancestors.
Each celebrity will be a guest in the upcoming 10-week PBS series  <a href="https://www.pbs.org/wnet/finding-your-roots/" target="_blank" rel="noopener noreferrer">Finding Your Roots</a>, in which Gates delves into the family histories of his guests, tracing their stories back in time. When the paper records run out, he turns to DNA tests.
After Macpherson sketched a seemingly unlikely link between one of the guests with European Jewish ancestry and another, a Muslim of Pakistani descent, Gates remarked:
“It reaffirms that we truly are all the sons of Abraham.”
“Indeed,” Macpherson said.
<img loading="lazy" decoding="async" class="alignright wp-image-11614 size-medium" title="Mike&amp;Skip" src="http://35.88.189.111/wp-content/uploads/2012/03/MikeSkip-300x290.jpg" alt="Professor Henry Louis Gates Jr. and 23andMe scientists going over their interview before filming of Finding Your Roots at 23andeMe headquarters." width="300" height="290" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/MikeSkip-300x290.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/03/MikeSkip-768x742.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/03/MikeSkip-1024x989.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/03/MikeSkip-880x850.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/03/MikeSkip-1180x1140.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />Mike Macpherson and Henry Louis Gates Jr. with producer Hazel Gurland.
The exchange happened recently at our headquarters in Mountain View, where the Harvard scholar and cultural critic came with a film crew to record some final scenes for his upcoming PBS series, which starts March 25th and runs until the end of May. Gates also interviewed 23andMe’s Senior Director of Research Joanna Mountain.
Both Mountain and Macpherson were consultants for the series and helped research the genetic genealogy of Gates’ guests on the show. Although they were being interviewed on camera to explain some of the complex science, Gates often boiled things down into easy-to-understand concepts. Or as Macpherson said during one break, “He could do this all a cappella.”
Gates wasn’t alone. Producers Hazel Gurland and Caitlin McNally helped direct the shoot and frame some questions while a cameraman filmed the discussion. But it was clear that Gates was in charge, and he has a knack for finding the nugget that will captivate people, such as the idea that we are all interconnected genetically.
It’s not “six degrees of separation” that links any two people, but two or three degrees. And these are not social connections – a friend of a friend of a friend – but links through our DNA.
“Now that’s cool,” Gates said.
<img loading="lazy" decoding="async" class="alignright wp-image-11612 size-full" title="skip&amp;joanna" src="http://35.88.189.111/wp-content/uploads/2012/03/skipjoanna-e1331143851961.jpg" alt="Joanna Mountain, a 23andMe senior scientist, and Prof. Henry Louis Gates Jr. prepare for filming of an episode of Finding Your Roots." width="299" height="199" />Joanna Mountain and Henry Louis Gates Jr.
If there’s a theme that links Gates’ body of work—or at least his oeuvre on PBS—which includes Finding Your Roots, African American Lives, Black in Latin America, and Faces of America—it’s this notion that the distinct lines we’ve drawn to distinguish ourselves from others are much fuzzier than they seem.
As Mountain said, the closer two peoples were geographically, the more they share genetically. Or, as Gates mischievously likes to say:
“What it proves is that – no matter what the laws were in that day and time, no matter how societies tried to force sexual segregation – when the lights came down, everybody was sleeping with everybody else.”
<img loading="lazy" decoding="async" class="alignright wp-image-11611 size-medium" title="FindingRootsSlapRoll" src="http://35.88.189.111/wp-content/uploads/2012/03/FindingRootsSlapRoll-300x226.jpg" alt="A photo of a clapboard that is with the Finding Your Roots episode." width="300" height="226" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/FindingRootsSlapRoll-300x226.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/03/FindingRootsSlapRoll-768x578.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/03/FindingRootsSlapRoll-1024x770.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/03/FindingRootsSlapRoll-880x662.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/03/FindingRootsSlapRoll-1180x888.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />
For Gates, a cultural historian, the author of 14 books, and the director of Harvard’s W.E.B. Du Bois Institute for African and African American Research, the point is that racial and ethnic dividing lines are not as sharp as many assume. This is particularly true in the United States.
“It’s a tribute to the true triumph of American democracy,” Gates said at one point during the shoot with Macpherson and Mountain. &#8220;It&#8217;s about the diversity of our people, which we can measure through genealogy and genetics.”

Behind the Scenes of PBS’s Finding Your Roots

Editor&#8217;s note: This post has been edited to reflect changes to the 23andMe ancestry product. 
Nearly 37 million Americans claim to have Irish heritage according to a <a href="http://www.census.gov/newsroom/releases/archives/facts_for_features_special_editions/cb11-ff03.html" target="_blank" rel="noopener noreferrer">national survey conducted in 2009</a>.
That’s over eight times the number of people living in Ireland today. Although it’s remarkable that nearly 1 in 10 Americans might say “Kiss Me I’m Irish!” on St. Patrick’s day, it’s not clear if all these people actually have Irish ancestors or if they simply feel an affinity for corned beef and green beer.
So how do you know if you have Irish ancestry? Often this information is passed down through family stories, for instance, my mother claims to be a quarter Irish and so I’m apparently one-eighth Irish.
But can I look at my DNA to verify this?
It turns out that <a href="../2010/09/29/ancestry-at-23andme-introducing-sheridan/" target="_blank" rel="noopener noreferrer">maternal and paternal lines</a> can offer some clues about Irish ancestry. 
In my case, my maternal line, traced through mitochondrial DNA that I inherited from my mother (thanks Mom!), told me that I’m a sub-type of a lineage called H6a (specifically H6a1b). H6a is is an offshoot of the broader H maternal line and is found at low levels – 4% or less – in the Czech Republic, Slovakia, France, Sweden&#8230; and Ireland! So, although it doesn’t completely verify the story, this one branch of my ancestral tree is at least consistent with claims of Irish ancestry on my mother’s side.
<div style="float: right; text-align: justify; width: 300px; background-color: #eee; padding: 10px; margin-left: 15px; margin-bottom: 15px; font-size: 11px;">
What is a “maternal line”? 
Maternal lines are inherited through mitochondrial DNA – both women and men have mitochondrial DNA, but it’s only the mother’s mitochondrial DNA that is passed on to a child.
What is a “paternal line”? 
Paternal lines are inherited through the Y chromosome, which only men have. (Remember that women have two X chromosomes while men have one X and one Y chromosome). Since women don’t inherit a Y chromosome, they must trace their paternal line through their father’s, brother’s or paternal uncle’s Y-chromosome data.
</div>
If instead, I want to see if I have Irish ancestry on my father’s side (even though my father has never claimed to be Irish!), I can investigate my paternal line, which is traced through DNA on the Y chromosome and passed from father to son.
Even though I don’t have a Y chromosome, I can learn about my paternal line through my biological brother’s or father’s DNA.
<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2799514/?tool=pubmed" target="_blank" rel="noopener noreferrer">85% of Irish men</a> belong to a paternal lineage called R1b1b2, but since this line is also common across the rest of western Europe, it doesn’t definitively determine if a man has Irish ancestry. If a man has a sub-type of this lineage (called R1b1b2a1a2f2), however, it’s much more likely that his DNA might actually trace to Ireland. Research suggests that many men of this line are descendants of an Irish king named “Niall of the Nine Hostages” who ruled during the 4th and 5th centuries.
According to legend, Niall led one of the most powerful and enduring Irish kingdoms and it has been suggested that because of high rates of Irish emigration to North America and other parts of the world,<a href="http://www.newscientist.com/article/dn8600-medieval-irish-warlord-boasts-three-million-descendants.html" target="_blank" rel="noopener noreferrer"> up to two or three million</a> men descend from Niall!
<a href="../2010/09/16/ancestry-at-23andme-what-can-you-learn/" target="_blank" rel="noopener noreferrer">Learning about our ancestry</a> is particularly fun when we can toast to it. Even if you don’t have Irish ancestry, we wish you a Happy St. Patrick’s day and encourage you to explore the hidden stories in your DNA.

Did You Know? DNA Can Offer Clues about Irish Ancestry.

<img loading="lazy" decoding="async" class="aligncenter wp-image-9055 size-full" src="http://35.88.189.111/wp-content/uploads/2011/05/sarcoma-image1.jpg" alt="" width="315" height="257" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/05/sarcoma-image1.jpg 315w, https://blogcms.23andme.com/wp-content/uploads/2011/05/sarcoma-image1-300x245.jpg 300w" sizes="auto, (max-width: 315px) 100vw, 315px" />
Ewing sarcoma, a rare type of bone cancer, is diagnosed in only about 250 children and teenagers in the United States each year.
<h6>Cell Function</h6>
The vast majority of Ewing sarcomas are caused by a specific rearrangement of the DNA within bone cells. The EWSR1 gene on chromosome 22 becomes fused to the FLI1 gene on chromosome 11. This EWSR1-FLI1 fused gene produces a dysfunctional protein that fails to correctly regulate important cell functions. This leads to extremely aggressive tumors.
Not much is known about the genetics of Ewing sarcoma but researchers have long suspected a genetic component. Children of European ancestry are affected much more frequently than children of Asian or African ancestry. Having a sibling or a cousin with Ewing sarcoma also increases a child’s risk for the condition. The rarity of the disease, however, has made genetic studies very difficult.
<h6>New Findings</h6>
Last month, scientists from the Cancer Research Center of Lyon and the Institute Curie in Paris <a href="https://www.ncbi.nlm.nih.gov/pubmed/22327514" target="_blank" rel="noopener noreferrer">published</a> the first genome-wide association study reporting possible genetic susceptibility factors for Ewing sarcoma. The research team, led by David Cox and Oliver Delattre, compared over 1,000 patients with Ewing sarcoma to approximately 2,000 healthy individuals and discovered several SNPs associated with the condition.
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">If you haven’t heard of sarcomas, it’s not really surprising — these rare cancers make up less than 1% of cancer diagnoses. The word “sarcoma” comes from the Greek word for “flesh,” and many sarcomas do affect the soft, fleshy tissues, such as fat or muscle. Some sarcomas, however, affect the bone, such as Ewing sarcoma.</div>
<h6>Associated odds</h6>
One of these SNPs,  is located near the TARDBP gene. The researchers found that each copy of a T at was associated with about 2.2 times lower odds of Ewing sarcoma. For another SNP was associated with 1.66 times higher odds of Ewing sarcoma.
Both of these SNPs have some biological connection to the disease. The TARDBP gene turns out to be structurally similar to EWSR1 and FLI1. These are the two genes that are fused together in most Ewing sarcoma cells. The researchers in this study also noted that individuals with genotypes associated with higher Ewing sarcoma risk produced more TARDBP protein than individuals with the lower-risk genotypes, though how exactly this relates to the development of Ewing sarcoma is still to be determined.
Cox and his team found that individuals with Ewing sarcoma have higher EGR2 protein production than individuals with other types of sarcoma. They also show that the protein encoded by the EWSR1-FLI1 fused gene that is seen in so many Ewing sarcoma cells regulates the production of EGR2 protein.
This study represents the first genome-wide association study in this rare condition, but it is only a first step. More research in large groups of sarcoma patients to investigate these associations and determine whether they affect Ewing sarcoma risk in other populations.

A First For Ewing Sarcoma

On a recent visit to 23andMe George Demetri –a physician and scientist who is an unpaid advisor to our<a href="https://www.23andme.com/sarcoma/"> Sarcoma research initiative</a> – sat down for a short interview after talking to our team. 
Demetri, who is also the director of the Dana-Farber Center for Sarcoma and Bone Oncology, said he has a lot to be optimistic about in the study of sarcoma. Individually, these are rare kinds of cancers that affect bone, cartilage, muscle, and other soft connective tissue in the body.
<img loading="lazy" decoding="async" class="alignright wp-image-11542 size-medium" title="george&amp;Anne" src="http://35.88.189.111/wp-content/uploads/2012/03/georgeAnne-300x194.jpg" alt="" width="300" height="194" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/georgeAnne-300x194.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/03/georgeAnne-768x496.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/03/georgeAnne-1024x661.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/03/georgeAnne-880x568.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/03/georgeAnne-1180x762.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />Dr. George Demetri and 23andMe&#8217;s CEO Anne Wojcicki
Genetics often triggers different sarcomas, but, as with most cancers, there seldom is a single cause. This makes treating sarcoma that much more difficult. Research into sarcoma, like other rare diseases, is stymied by how rare these cancers are, but Demetri’s work at the Dana-Farber Center offers much to be hopeful about. 
Demetri, who has had his share of practice-changing clinical breakthroughs, mostly notably with treating<a href="http://www.gistsupport.org/"> gastrointestinal stromal tumors</a>, is excited by some of the preliminary research 23andMe is already compiling around our Sarcoma research community. He said the model for our research platform – crowd-sourced, Internet-based, and web-driven genetic studies – is something he has long envisioned as a way to improve medical research and treatment.
23andMe: You anticipated using the Internet to connect patients to doctors and researchers long before 23andMe created its Sarcoma Community. Where did that idea come from, and how does 23andMe’s work mesh with what you’d hope to see?
Demetri: For me, the idea of using the Internet was about finding the right patients with the disease under interest because it was very clear that the tools we use to diagnose a disease are not sufficiently powerful &#8230; cancer, it’s not one disease. Sarcomas under the microscope look very different. When we started diving into the chromosomes, they were completely different. And when we started diving into the genetics, they couldn’t be more different … When you peer into that looking glass, you see a thousand different kinds of sarcomas. You run into a problem if they are only one percent of all cancers and you have 1,000 different diseases; there are not a lot of people with any one kind of those cancers … You have to do the E-Harmony trick. You have to match the right patients to the right drugs. 23andMe is the perfect tool for that. 
Nine out of ten cancer drugs we have today fail in clinical trails and that’s because nobody’s paying attention to this important matching of what’s driving the patient with the cancer to the drug that works for that cancer. To do that you need to put another filter on the traditional clinical trials methodology where you don’t just take everybody who walks in the door with a given type of cancer. Instead, you take the patients with the right kind of genetics, and you actually select for them.It’s the same kind of issue that patients have. They want their medicine personalized. And you know, we hear a lot of backlash about this in the medical community where they are saying: 
“You guys in academia talk a lot about personalized medicine. Well, I’m very personalized. I treat my patients as individuals.” 
And you know they do. They do the best they can with old technology and old diagnostics, but the truth is our technology has moved beyond that, and patients want access to it.
23andMe: What might the work on Sarcomas mean for other kinds of research?
Demetri: Sarcomas tend to be driven by one dominant pathway, where if you shut it off, the cancer gets better. GIST (gastrointestinal stromal tumors) is a great example of that. But more common cancers are probably driven by two, or maybe three, mutated pathways or different dysregulated pathways – kind of like HIV. We didn’t see people living with HIV for years, and, years, and years until we got to triple therapy. So the challenge for us now in cancer is how to identify the right molecular pathways, do the clinical trials, and, as quickly as possible, move from using a single targeted drugs to giving triple therapies.
23andMe: More than 800 people are enrolled in our Sarcoma Community and are heading to 1,000. What is the significance of having that many people with Sarcoma in a research cohort?
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-11554" title="George&amp;graph" src="https://blog-api.23andme.com/wp-content/uploads/2012/03/Georgegraph-300x200.jpg" alt="" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/Georgegraph-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Georgegraph-768x512.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Georgegraph-1024x683.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Georgegraph-880x587.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Georgegraph-1180x787.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Demetri: In research, in general, the quality of the community and its engagement are important. It’s not just the number. But it is incredibly helpful to be able to dialogue back and forth between patients, doctors, and researchers. Patients also want to be able to reach out to other patients. What I see in this tool is that possibility. 
Having patients participate as part of the research will teach us a lot. It’s to the patient&#8217;s advantage to help us hone the data we’re collecting and to have their voices heard. Simply knowing things like, ‘How did you feel taking this drug?’ That’s important. I think patients are frustrated that the health care system doesn’t already use that kind of data, their data, in an aggregated way.
23andMe: You are an excellent combination of someone who is both very realistic and optimistic. What would you tell someone today who was just diagnosed with Sarcoma?
Demetri: Sarcoma is a scary diagnosis, but some may proceed with a nihilism that’s unwarranted. That nihilism is the first thing we’ve tried to counteract in the last decade. I think the important thing with this is today, half of all patients will be cured with conventional modalities. That’s terrific. That’s number one, and even when we have somebody who doesn’t currently have the potential of being cured, I’ve been lucky enough to be part of developing drugs that made people who thought that they maybe had only had six weeks to live to still be alive 11 years later now. That is life-changing. That is a transformational kind of research. And I’ve seen the power of that kind of research. I tell my patients I’m going to help them make decisions so that they buy as much time as possible because we never know in research when we’re going to make the next major breakthrough that will make an incurable disease curable or a fatal one into one that will be manageable.

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