<div id="attachment_23961" style="width: 250px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23961" class="wp-image-23961 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2016/05/esteban-gonzalez-burchard-240x300.jpg" alt="esteban-gonzalez-burchard" width="240" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/05/esteban-gonzalez-burchard-240x300.jpg 240w, https://blogcms.23andme.com/wp-content/uploads/2016/05/esteban-gonzalez-burchard-768x960.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/05/esteban-gonzalez-burchard-819x1024.jpg 819w, https://blogcms.23andme.com/wp-content/uploads/2016/05/esteban-gonzalez-burchard-704x880.jpg 704w, https://blogcms.23andme.com/wp-content/uploads/2016/05/esteban-gonzalez-burchard-944x1180.jpg 944w, https://blogcms.23andme.com/wp-content/uploads/2016/05/esteban-gonzalez-burchard.jpg 1157w" sizes="auto, (max-width: 240px) 100vw, 240px" />Esteban G. Burchard, MD, MPH</div>
Asthma can start with simple tightness in the chest, but end in an epic battle to breathe.
So whether you are black or white, Asian or Latino, an asthma attack can be frightening, especially if you are a kid.
But who you are, or more accurately what your ancestry is, does matter in what scientists can say about the triggers, causes and biology of the disease.
There has been a lot of research that’s been done on asthma, and we know a lot about the condition. But the vast majority of that research has been done only on people of European ancestry, and in many cases it offers little insights for people of other ethnicities.
Some estimates show that<a href="https://www.nature.com/nature/journal/v475/n7355/full/475163a.html"> more than 90 percent</a> of the research into the genetics underlying disease is on individuals of European descent alone.
That’s a problem for everybody, according to the University of California at San Francisco Professor<a href="http://profiles.ucsf.edu/esteban.burchard"> Esteban Burchard</a>, an MD, MPH.


“Almost all the genetic studies of asthma have been done using white patients only, but you can’t assume these results will apply to other ethnic groups,” said Esteban, who directs the Genes-environments &amp; Admixture in Latino Americans Study and the Study of African Americans, Asthma, Genes &amp; Environments at University of California San Francisco.
He also serves as an expert on research disparities for President Obama’s Precision Medicine Initiative.
<div id="attachment_23960" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23960" class="wp-image-23960 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2016/05/Asthma-prevalence-300x172.jpg" alt="Asthma prevalence" width="300" height="172" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/05/Asthma-prevalence-300x172.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2016/05/Asthma-prevalence.jpg 752w" sizes="auto, (max-width: 300px) 100vw, 300px" />Asthma prevalence among children of different ancestry.</div>
A long-time friend of 23andMe who previously served as an advisor in the company’s effort to recruit more African Americans called “Roots into the Future,” Esteban said that the lack of diversity in research leaves non-Europeans behind in the genetics revolution and it leaves huge gaps in scientists’ understanding of disease.
There are efforts to change that.
Recently 23andMe received<a href="https://blog.23andme.com/news/announcements/23andme-scientists-improving-diversity-in-genetic-research/"> a National Institutes of Health grant</a> for a project that uses admixture mapping as a way to aid gaining better insight into health research for underrepresented communities. While this doesn’t involve recruiting, it could help leverage 23andMe’s diverse collection of customers who have consented to research.
The need for these kinds of approaches to improve diversity in research are very apparent. Asthma is a case in point. It is the most common chronic disease among all children, but it hits African American and Puerto Rican kids at almost twice the rate of all other children. About 18 percent of Puerto Rican children have asthma, while about 15 percent of African American kids do.
Addressing this head on, Esteban recently lead a team that completed the largest single study of the genetic and environmental causes of<a href="http://link.springer.com/article/10.1007%2Fs00251-016-0914-1"> asthma in African American children</a>. The study suggests that only a tiny fraction of known genetic risk factors for the disease that have been discovered in other research actually apply to African Americans.


“This paper is an important first step towards truly understanding the biology of asthma in African Americans,” Esteban said.


The paper also reinforces the importance of gathering more research data on people of all ancestries to improve the insights that can be gained through genetic research.
The study included data from more than 1,200 African Americans, about 800 of whom have asthma, to look for genetic variants associated with the disease. The researchers looked at genetic variants known to be associated with asthma in people of European ancestry. They found that 95 percent of the variants that increase risk for asthma in Europeans didn’t appear to increase risk for African Americans. And for the first time they identified genetic variants associated with higher risk for asthma in African American children. Those variants were in or near genes that are also associated with obesity and inflammation, which could help researchers as they investigate the biology of the disease.
For Esteban this clearly shows the value of the research the team is doing by focusing on people of color.


“We want to understand why some minority communities have higher rates of disease and how they may respond differently to treatment,” he said. “But the risk factors we identify in these understudied populations can also point the way to new biology, which can be important for everyone.”

23andMe Blog

23andMe Blog Team

Asthma in African American Children

Anyone with inflammatory bowel disease has to be strong to handle the day-to-day challenges of living with the condition.
You need<img loading="lazy" decoding="async" class="alignright wp-image-23953 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2016/05/228003_209715065716926_5741766_n-200x300.jpg" alt="Dane Johnson" width="200" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/05/228003_209715065716926_5741766_n-200x300.jpg 200w, https://blogcms.23andme.com/wp-content/uploads/2016/05/228003_209715065716926_5741766_n.jpg 480w" sizes="auto, (max-width: 200px) 100vw, 200px" /> even more moxie to take the extra step of being public about this serious and sometimes debilitating intestinal condition.
One of those courageous few who’ve stepped out to talk about dealing with IBD – which includes conditions such as Crohn’s disease and ulcerative colitis – is Dane Johnson.
An actor, model and now holistic nutritionist, Dane was first diagnosed with Crohn’s disease and colitis soon after finishing college. Four years later, after recovering from a life-threatening episode that left him hospitalized, Dane joined <a href="https://www.23andme.com/ibd/">23andMe’s IBD Study</a> and began talking publicly about his journey with Crohn’s and colitis.
Now a year later, we wanted to take a few moments to catch up with Dane and see what’s new. In the midst of his battle with Crohn’s, Dane, who is an athletic 6’1” was down to 125 pounds, but since then he has made a full recovery, and  gained back 55 pounds of healthy weight.
Dane has turned a corner and is back to being very active. His doctor recently informed him that his intestinal tract is showing a 75 percent decrease in visual signs of the disease.
23andMe: How are you doing? What&#8217;s changed since we last talked?
Dane: “I’m doing amazing. My energy is great and I’ve been able to take on traveling too. I graduated from school as a holistic nutritionist in January.  I  have since incorporated my own business consulting clients with IBD on a holistic approach to managing their  health and wellness goals.  I’m also still modeling and acting. ”
<div id="attachment_23951" style="width: 234px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23951" class="wp-image-23951 size-medium" src="http://35.88.189.111/wp-content/uploads/2016/05/1413736-224x300.jpg" alt="A photo of Dane at 125 lbs." width="224" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/05/1413736-224x300.jpg 224w, https://blogcms.23andme.com/wp-content/uploads/2016/05/1413736.jpg 261w" sizes="auto, (max-width: 224px) 100vw, 224px" />Dane at 125 lbs.</div>
23andMe: Crohn’s and colitis leaves a lot of people feeling isolated and alone. Often the last thing they want to do is tell someone about what they’re going through. What was it like to speak publicly about your own story?
Dane: 
“Extremely hard! There’s no way getting around that, but it’s taught me a lot about people. People tend to embrace those who share their truth. Actually it becomes empowering once you decide to take your situation into your own hands because today everyone seems to know someone dealing with something similar.”
23andMe: 
“Why did you decide to talk so openly about everything you’re going through?”
<div id="attachment_23950" style="width: 231px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23950" class="wp-image-23950 size-medium" src="http://35.88.189.111/wp-content/uploads/2016/05/7531168-221x300.jpg" alt="" width="221" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/05/7531168-221x300.jpg 221w, https://blogcms.23andme.com/wp-content/uploads/2016/05/7531168.jpg 400w" sizes="auto, (max-width: 221px) 100vw, 221px" />Dane after his recovery.</div>
Dane: 
“I needed a way out, and surgery was the only one presented to me. I came to the conclusion that a bit of shame was nothing in comparison. It ended up being a great way to create solutions as I found answers and great connection by talking about it. If I had kept it to myself I am certain I’d still be very sick and I would have never gone back to school for natural medicine or started my own business.”
23andMe: 
“What kind of feedback have you gotten from people?”
Dane: 
“I hear that I’ve inspired a lot of people, who hear about my story. People tend to be thankful about how open I am.  I’ve been surprised that more people are dealing with a similar situation than I thought. Every time it comes up in conversation, there’s always someone who is dealing with it themselves or is close to someone who is. ”
23andMe: 
“Has it been helpful for you to talk about it and to meet others with IBD?”
Dane: 
“Extremely. It always makes me feel less alone in the world, and it takes the pressure and anxiety away when I meet people who can relate. 
23andMe: 
Why did you decide to join 23andMe’s IBD Research Study?
Dane: 
“I wanted a place to share my experience and have my story and genes be of use for others. It was a no-brainer that I wanted to participate in the study.”
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;"><img loading="lazy" decoding="async" class="alignright size-full wp-image-21214" src="https://blog-api.23andme.com/wp-content/uploads/2014/07/IBD-IMage-.jpg" alt="IBD IMage" width="240" height="160" /> 
23andMe, in collaboration with Pfizer Inc, is well on its way to enrolling 10,000 people living with Inflammatory Bowel Disease (IBD) to participate in<a href="https://www.23andme.com/ibd/"> research.  </a>Learn more about our study <a href="https://www.23andme.com/ibd/">here</a>.</div>
23andMe: 
“Have you had any episodes over the last year?”
Dane: 
“Yes. I tend to push the limits in my life and that has a double edged sword effect. I’ve travelled to Thailand, Cambodia, and Mexico, twice, as well as all over the U.S. since my recovery. Anyone who deals with IBD knows traveling and staying in foreign environments is not easy, almost impossible at first glance. However through these experiences I’ve learned a lot about myself and how to manage my health.”
23andMe: 
“What are you doing for work, are you still modeling or acting? How does your condition impact what you do?”
Dane: 
“I am still modeling and doing a bit of acting, while focusing on entrepreneurial efforts which are very exciting. ”
23andMe: 
“Do you have suggestions for other young people with the condition on how best to approach the day-to-day?”
Dane: 
“Consistency and building positive healing energy in your life is the key to success. Starting out with a consistent morning and night is a great way to lower symptoms and improve your ability to manage your health. Get good at knowing your triggers. It’s more specific than food. Surround yourself with positivity. Don’t be in a situation you really don’t want to be in.” 
23andMe: 
“Looking at the future what are your hopes about the current IBD research efforts? 
Dane: 
“I’m hopeful that we can learn the root causes of IBD or learn about what can trigger symptoms. Most of us don’t become aware of our illness until years after it’s taking root in our bodies. Earlier knowledge will be a game changer.”
<iframe loading="lazy" src="https://www.youtube.com/embed/mpEbocx04cg" width="640" height="360" frameborder="0" allowfullscreen="allowfullscreen"></iframe>

Living With Crohn’s and Colitis

23andMe, in collaboration with Pfizer Inc, is well on its way to enrolling 10,000 people living with Inflammatory Bowel Disease (IBD) to participate in<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23251" src="https://blog-api.23andme.com/wp-content/uploads/2015/05/IBD-Badge-Downloaded-300x300.png" alt="IBD-Badge-Downloaded" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/05/IBD-Badge-Downloaded-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2015/05/IBD-Badge-Downloaded-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2015/05/IBD-Badge-Downloaded-768x768.png 768w, https://blogcms.23andme.com/wp-content/uploads/2015/05/IBD-Badge-Downloaded-880x880.png 880w, https://blogcms.23andme.com/wp-content/uploads/2015/05/IBD-Badge-Downloaded-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2015/05/IBD-Badge-Downloaded-372x372.png 372w, https://blogcms.23andme.com/wp-content/uploads/2015/05/IBD-Badge-Downloaded-574x574.png 574w, https://blogcms.23andme.com/wp-content/uploads/2015/05/IBD-Badge-Downloaded-980x980.png 980w, https://blogcms.23andme.com/wp-content/uploads/2015/05/IBD-Badge-Downloaded.png 1000w" sizes="auto, (max-width: 300px) 100vw, 300px" />Crohn’s disease and ulcerative colitis.
But we can’t begin our analysis of the data in earnest until we reach our goal.
As we prepare to mark World IBD Day on May 19th, we want to thank all those who’ve joined 23andMe’s IBD study, making this research effort possible, and we want to draw attention to the goals of that research as well as some of what we’ve learned already. These are chronic autoimmune conditions, affecting more than 5 million people worldwide.
The symptoms for IBD can be debilitating and include among other things cramps, pain, fever, loss of appetite, bowel problems and severe weight loss. Currently there is no cure.
The goal of<a href="https://www.23andme.com/ibd/"> 23andMe’s IBD study</a> is to find out more about the role genetics and environment play in the onset and progression of IBD. We also want to learn how those factors influence why individuals respond differently to treatments.
The hope is that this research could help us better understand the genetics of the disease and, in turn, may help companies like Pfizer find better treatments and therapies for IBD.
We are close to reaching our goal of 10,000 patients participating in this study, and we’ve already been able to gather some important data:

<ul>
<li>More than a quarter of our participants report that a close relative also has some form of IBD, supporting the notion that the condition runs in families.</li>
<li>Almost half of our participants have also been hit with a flare up of symptoms in the last three months.</li>
<li>More than 40 percent said that among their symptoms is pain in their joints or swollen joints.</li>
</ul>
While there are treatments, the effectiveness of those treatments varies and that is part of what our researchers want to understand with this study. The hope is that insight from this research will aid in developing more effective ways to treat the condition.
So as we mark World IBD Day, take a moment to learn more about IBD and 23andMe’s<a href="https://www.23andme.com/ibd/"> ongoing research</a> that we hope will change the future of  this disease.

World IBD Day

Researchers know that certain genes, or more accurately regions in our genes, are <img loading="lazy" decoding="async" class="alignright size-medium wp-image-23879" src="https://blog-api.23andme.com/wp-content/uploads/2016/04/traits-300x149.jpg" alt="traits" width="300" height="149" />multitaskers, influencing a wide variety of traits and conditions that range from such things as the size of our noses to our susceptibility to childhood ear infections to our risk for Parkinson’s disease.


A new study led by researchers at the <a href="https://www.nygenome.org/">New York Genome Center</a> and 23andMe analyzed 42 different traits and identified more than 300 locations in the genome that influence multiple traits and conditions. The study, <a href="https://dx.doi.org/10.1038/ng.3570" target="_blank" rel="noopener noreferrer">published in Nature Genetics</a>, was supported through a grant from the National Institutes of Health.
It’s not news that a single genetic variant may influence multiple traits and conditions. There’s even a name for this in genetics: pleiotropy. But <a href="http://www.the-scientist.com/?articles.view/articleNo/46094/title/Genetic-Connections-Among-Human-Traits/" target="_blank" rel="noopener noreferrer">this research</a> took that one step further going beyond the mere correlation and developing a method to identify the biological relationships between traits to show causal connections.
“While genomic studies have been successful in identifying genetic variants that influence disease risk, it’s important to understand the impact of genetic variants across many diseases,&#8221; said <a href="https://jkplab.org/" target="_blank" rel="noopener noreferrer">Joseph Pickrell</a>, PhD, the lead author of the study and an assistant investigator at New York Genome Institute.
Pickerll is also an Adjunct Assistant Professor in the Department of Biological Sciences at Columbia University.
He said genetic variants may be influence many different conditions in different ways.


&#8220;For example, if a genetic variant decreases risk of schizophrenia but increases risk of Parkinson’s disease, drugs that target this gene may have unintended consequences,&#8221; Pickrell said.


Excluding so-called “trivial” correlations, the researchers identified several different clusters, some of which showed causal relationships. This causal relationship might be direct, so for example a single genetic variant might influence many different traits or conditions, or a variant might influence one trait or condition and that in turn leads to another trait or condition.
Researchers in this study found that variants known to influence puberty also influence height, male pattern baldness and BMI, which are all related to hormonal regulation. Another cluster was found around metabolic conditions such as coronary artery disease, red blood cell traits and lipid levels. And researchers also noted clustering around immune response with conditions like asthma, allergies, Crohn’s disease, rheumatoid arthritis and infectious diseases like childhood ear infections and tonsillitis clustering together.


The researchers say their study validates the use of genome wide association studies to find variants that influence many different traits. In turn identifying them may also help to highlight true causal relationships by bringing into sharp relief the biology behind certain conditions. Although the researchers say they have only identified a modest number of variants that causally influence multiple traits and conditions, they suggest that a larger study would uncover many more.
Finally this study also highlights the value of the mix of data 23andMe customers share for research, which includes not just genotypic data from detailed phenotypic information.
This allowed 23andMe to contribute to this study by including information from more than 300,000 customers who consented to research.
This is valuable information for researchers who can tap into a wide range of phenotypes as varied as allergies and asthma or the timing of puberty or whether they have chin dimples or had a lot of ear infections as a child. It’s this kind of rich data that can lead to unexpected insights that 23andMe is uniquely able provide scientists.


“This study illustrates the value of collecting not just genotypic data but a wide variety of phenotypic data, something that 23andMe is uniquely able to do,” said co-author David Hinds, PhD,  principal scientist, statistical genetics at 23andMe.  “The ability to study this type of rich phenotypic and genotypic data at scale makes it possible to uncover unexpected insights.”


The study appears in the journal <a href="https://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3570.html#access" target="_blank" rel="noopener noreferrer">Nature Genetics</a>.

Genetic variants found to influence multiple traits and conditions

In what is the largest-ever genome wide association study for social science, researchers found more than 70 genetic variants <img loading="lazy" decoding="async" class="alignright size-medium wp-image-23930" src="https://blog-api.23andme.com/wp-content/uploads/2016/05/31546r-257x300.jpg" alt="31546r" width="257" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/05/31546r-257x300.jpg 257w, https://blogcms.23andme.com/wp-content/uploads/2016/05/31546r.jpg 548w" sizes="auto, (max-width: 257px) 100vw, 257px" />associated with educational attainment – the number of years individuals spent in school or university.


Many of the variants found were also in genes or gene regions associated with cognitive performance, intracranial size, bipolar disorder and a decreased risk for either Alzheimer’s disease or neuroticism.
“It is not surprising that genes seem to matter for educational attainment in part because of their effects on brain development,” said the study authors, who are part of the<a href="http://www.ssgac.org/Home.php"> Social Science Genetic Association Consortium</a>. The new findings appeared in the latest issue of <a href="http://nature.com/articles/doi:10.1038/nature17671">Nature</a>.
The three primary authors of the study –<a href="https://cesr.usc.edu/people/staff/djbenjam"> Daniel Benjamin</a>, at the University of Southern California,<a href="http://econ.as.nyu.edu/object/DavidCesarini.html"> David Cesarini</a>, at New York University and<a href="http://www.erim.eur.nl/people/philipp-koellinger/"> Philipp Koellinger</a>, at Erasmus University in Rotterdam – said certain cognitive abilities and personality traits that matter most for school performance are likely also to reflect how the brain is organized.
“It is intriguing that, even though educational attainment is primarily influenced by environmental factors, our study of educational attainment generates a biological picture of brain development that is clearer than those generated by previous GWAS that focused directly on brain structures,” the authors said.


The researchers identified 74 genetic variants associated with educational attainment, and noted that these variants were in genes or gene regions associated with the development of neural tissue, particularly during prenatal development. Although the genetic associations identified only explain a small portion of the variation for educational attainment, the researchers said the results highlight candidate genes and pathways that should be the focus of future study.
This is the second time the consortium, which includes scientists from a dozen institutions around the world, has looked specifically at educational attainment.
The last study,<a href="https://osf.io/9ka46/"> published in 2013</a>, found just three variants, but that research was only a third of the size of this latest study.
This latest research includes data from more than 300,000 individuals including data from more than 76,000 23andMe customers who consented to research. 23andMe’s contribution was by far the largest of all the 64 cohorts included in the study, which included people from 15 different countries. 23andMe’s principal scientist David Hinds, director of research <a href="https://blog.23andme.com/23andme-research/a-conversation-with-23andmes-director-of-research/">Joyce Tung</a>, and statistical geneticist <a href="https://blog.23andme.com/23andme-research/a-conversation-with-23andme-researcher-nick-furlotte/">Nick Furlotte</a> also contributed to the work.
The researchers noted that it is the size of this study that allowed them to find specific genetic variants that may not have a big effect but are clearly associated with educational attainment.
For the members of the consortium the study reinforced the value of using genome-wide association studies for social science research. At the same time, they took pains to emphasize that educational attainment is much more strongly influenced by social and environmental factors such as the school system where someone is raised.

Genetic variants linked to education level

Sandi had 50 years to prepare for this moment, but as she walked off a plane in Sacramento she felt the anxiety and doubt well-up inside.
&nbsp;
<div id="attachment_23917" style="width: 210px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23917" class="size-thumbnail wp-image-23917" src="https://blog-api.23andme.com/wp-content/uploads/2016/05/Candance-Christine-Sandra-Sandi-200x200.jpg" alt="From left Candace, Christine, Sandra and Sandi, having lunch the day Sandi met them for the first time." width="200" height="200" />From left Candace, Christine, Sandra and Sandi.</div>
“It was like the night before you get married and you get cold feet or jitters,” said the 50 year-old mother from New Hampshire. “You just know that in a moment your life is going to change, and you worry that maybe you’re not ready.”


Adopted at birth in Florida, Sandi had spent her whole life looking for her biological mother, wondering if she was out there somewhere.
Then after decades of searching without success, she found her after discovering a second cousin named Steve on 23andMe. Her cousin, who is about ten years older, had remembered when his aunt, Sandi’s mom, was pregnant with her. 
<div id="attachment_23916" style="width: 210px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23916" class="size-thumbnail wp-image-23916" src="https://blog-api.23andme.com/wp-content/uploads/2016/05/ChristineSandi-200x200.jpg" alt="Christine, left, and her sister Sandi." width="200" height="200" />Christine, left, and her sister Sandi.</div>
It was through Steve that Sandi was able to connect with her mother and sister. Sandi’s trip across the country – just two weeks before Mother’s Day – was her chance to meet her mom for the first time. It was a meeting she’d fanaticized about her whole life, but as Sandi got closer to meeting her mother, she became more and more nervous.
While she splashed water on her face in the airport bathroom and ratcheted up her courage, her mother Sandra Freeland and Sandi’s sisters, Christine Herrera and Candace Campbell – who she was also meeting for the first time – had their own anxious moments as they waited for her in the terminal.
Christine had already bonded with Sandi through Facebook and several phone calls, but seeing Sandi in person for the first time triggered all sorts of emotions.
“There was so much going on inside me it’s hard to describe what I was feeling,” said Christine, who is Sandi’s full sister.


All her life, Christine felt like something or someone was missing. She had known most of her life that she had a sister out there, who’d been given up for adoption by her mother. Now after finding Sandi she felt like she was uncovering a missing part of herself.
For their mother, Sandra, meeting her daughter Sandi instantly brought her back to the few days she had with her as a newborn just before giving her up. At the time she’d been an out-of-work single mother trying to raise another another young daughter. County social workers in Florida had encouraged Sandra to give up the newborn for adoption, telling Sandra that if she kept Sandi there was a chance she’d lose both of her girls. It was an awful choice, but Sandra thought that giving up Sandi would offer her a better life than she could give her. But it was agony letting her go.
“I never stopped thinking about her,” Sandra said more than 50 years later. “Never. She was constantly on my mind.”


Each of the women were wound tight with emotion as Sandi walked into the terminal and into her mother’s arms for the first time in 50 years. As they held each other Christine stood next to them with tears in her eyes and her hands over her mouth.
They held each other for a very long time, and then Sandra whispered into her daughter’s ear.


“I told her it felt so good to hold her again and that I never wanted to let her go,” Sandra said. “And then I told her that I always loved her and I never stopped loving her.”


As she looked into her daughter&#8217;s eyes she instantly remembered holding her as an infant and the staring into her young eyes then, she said.
Almost weak in the knees with her own emotion, Sandi said none of the millions of meetings she’d imagined having with her mother over the years was quite as good as what really happened.
Sandi had been raised by a couple who’d been unable to have children. They were older when they adopted her, and they both passed away by the time Sandi was just 25. Although she adored her adopted father, she said her relationship with her adopted mother was more difficult. Still Sandi is thankful they provided her a stable upbringing. But Sandi never stopped looking for her biological mother, and over the years she’d fantasized about meeting her.


“To be held like that was something I’d dreamed about my whole life,” Sandi said. “I mean, it was my own mom holding me in her arms telling me she loved me, telling me how much she loved and missed me my whole life. It was amazing.”


For Christine, too, the moment was a bit surreal and overwhelming.
<div id="attachment_23918" style="width: 210px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23918" class="size-thumbnail wp-image-23918" src="https://blog-api.23andme.com/wp-content/uploads/2016/05/Candance-Sandra-Sandi-Christine-200x200.jpg" alt="From left Candace, Sandra, Sandi and Christine." width="200" height="200" />From left Candace, Sandra, Sandi and Christine.</div>
“I’m still in awe, still dumbfounded by it,” she said.


Just 11 months younger than Sandi, Christine said meeting her sister – their older sister had passed away more than a decade ago – was also something she’d dreamed about. Deep down Christine always thought she’d been a twin, and that missing twin sister was out there somewhere. Finally meeting Sandi and spending time with her she felt like reconnecting a missing part of herself. The connection she has had with her sister is like nothing she experienced before.
After meeting at the airport, Sandi spent a few days with Christine, and then met her extended family at a dinner in Sacramento – including her cousin Steve with whom she connected on 23andMe and who helped her find her mother. Sandi also got some more one-on-one time with her mother. She had a week on the coast before having to return home to her own kids.


“It’s crazy to have spent my whole life looking and then to finally find her,” she said. “It’s been amazing. It’s something I’ve yearned for my whole life, and that yearning never went away. It was important to hear that I wasn’t some kind of mistake. That I was loved and missed.”


And now she has someone she can wish Happy Mother’s Day.

Mother’s Day Delayed

With the start of Lupus Awareness Month, we’re offering up a snapshot of our growing lupus research community and one <img loading="lazy" decoding="async" class="alignright wp-image-22794 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/05/communityBadge_lupus-300x300.jpg" alt="communityBadge_lupus" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/05/communityBadge_lupus-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/05/communityBadge_lupus-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2015/05/communityBadge_lupus-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2015/05/communityBadge_lupus-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2015/05/communityBadge_lupus.jpg 400w" sizes="auto, (max-width: 300px) 100vw, 300px" />of the many people who has joined to make the work possible.


Since we launched our<a href="https://www.23andme.com/lupus/"> Lupus Research Study</a> we’re already more than halfway to reaching our goal of enrolling 5,000 people living with lupus.
Launched last year in collaboration with Pfizer Inc, the study is meant to help better understand the genetics of this insidious autoimmune disease, which affects almost 1.5 million in the United States alone. Symptoms for lupus can range from joint inflammation to sores and skin rashes – often in the form of blotchy red marks on the face. The symptoms can progress to other issues including damage to the kidneys, heart or lungs.
While the cause of lupus is unknown, several studies indicate that a number of factors, including genetics, hormones and the environment all play a role. Lupus also impacts women more than men – 90 percent of the cases are women – and it often hits them between the ages of 15 and 44, although a significant percentage of cases hit people in childhood.


Lupus is a serious condition, but we are inspired by the positive attitude of many of those who are participating in this research. One of the several thousand people who’ve enrolled in 23andMe’s Lupus Study is Mary Frances, a California mother who was first diagnosed in college.
Despite the challenges she’s faced along the way, she remains positive.
&#8220;
You have to think &#8211; someone else has it worse than me and turn your attention to the challenge,&#8221; she said.
Learn more about <a href="https://www.23andme.com/lupus/">our study.</a> 
<iframe loading="lazy" width="640" height="360" src="https://www.youtube.com/embed/NOoOoWH2BuU" frameborder="0" allowfullscreen="allowfullscreen"></iframe>

Learn About Our Lupus Research

<div id="attachment_23893" style="width: 209px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23893" class="wp-image-23893 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2016/04/David.Poznik-preferred-copy-199x300.jpg" alt="David.Poznik-preferred copy" width="199" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/04/David.Poznik-preferred-copy-199x300.jpg 199w, https://blogcms.23andme.com/wp-content/uploads/2016/04/David.Poznik-preferred-copy-768x1156.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/04/David.Poznik-preferred-copy-680x1024.jpg 680w, https://blogcms.23andme.com/wp-content/uploads/2016/04/David.Poznik-preferred-copy-585x880.jpg 585w, https://blogcms.23andme.com/wp-content/uploads/2016/04/David.Poznik-preferred-copy-784x1180.jpg 784w, https://blogcms.23andme.com/wp-content/uploads/2016/04/David.Poznik-preferred-copy-scaled.jpg 1701w" sizes="auto, (max-width: 199px) 100vw, 199px" />David Poznik</div>
In the largest study of genetic variation within the human Y chromosome, an international team of scientists has traced back branches of the male line almost 200,000 years, revealing points in history of major population expansions that appear to correspond to eras of innovation and human migration.
David Poznik, a Computational Biologist and Population Geneticist here at 23andMe and the lead author of<a href="https://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3559.html"> the paper</a>, worked on the study while completing his graduate research in <a href="http://bmi.stanford.edu/">Stanford’s Program in Biomedical Informatics</a>. Scientists from the <a href="http://www.sanger.ac.uk/">Wellcome Trust Sanger Institute</a> in the UK and from more than a dozen other institutions also contributed to the study.


Because the Y chromosome is passed in whole from fathers to sons through the generations, it offers a unique opportunity to reconstruct migrations that have taken millennia to manifest. By analyzing changes that have slowly accumulated over time, the 42 scientists were able to uncover a hidden history within the DNA sequences of 1,244 men representing 26 populations from around the world. The team used more than 60,000 Y-chromosome SNVs (positions at which at least one sequence differs from the others) to construct a tree that indicates how all the Y chromosomes are related to one another. Using the tree, they were able to follow modern male lines backward, ultimately tracing back almost 200,000 years to the most recent common paternal-line ancestor of almost all men currently living today.
<div id="attachment_23892" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23892" class="wp-image-23892 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2016/04/1000y-300x243.jpg" alt="1000y" width="300" height="243" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/04/1000y-300x243.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2016/04/1000y.jpg 584w" sizes="auto, (max-width: 300px) 100vw, 300px" />Tracing back in time paternal-lines from 26 different populations worldwide.</div>
One notable feature of the Y-chromosome tree is that the different male lines naturally cluster into what are known as “paternal haplogroups” or “clades.” These groupings often correspond to different continental populations and can distinguish, for example, someone with Native American paternal ancestry from someone whose paternal line traces to Western Europe.


As a working group of the <a href="http://www.1000genomes.org/">1000 Genomes Project</a>, the researchers had access to full sequences, which they compared to one another to measure distances between different groupings or clades. Since mutations steadily accumulate, these sequence distances correspond to temporal distances, with greater dissimilarities between sequences corresponding to longer separation times between their respective groups. Using published estimates of the Y-chromosome mutation rate, they estimated the timings of divergences between different haplogroups.
At certain points in history, particularly around 50,000 years ago and again approximately 15,000 years ago, several different lineages branched off from one another at the same time, marking major bursts in population growth. The times of these bursts overlap with human migrations into Eurasia and into the Americas, respectively. Between approximately 8,000 years ago and 4,000 years ago, there were other distinct periods of expansion in sub-Saharan Africa, South Asia, and Western Europe.
While the specific causes of those expansions are less clear, Dr. Chris Tyler-Smith, from the Sanger Institute believes that “the best explanation is that they may have resulted from advances in technology that could be controlled by small groups of men. Wheeled transport, metal working, and organized warfare are all candidate explanations that can now be investigated further.”


It will be interesting for scientists to use this DNA history in conjunction with archeological evidence to reconstruct the history of human migration across the globe.
It will be interesting for scientists to use this DNA history in conjunction with archeological evidence to reconstruct the history of human migration across the globe.

Why Study the Y?

An international team of scientists has identified two genetic variants that influence the odds of a mother having natural fraternal, non-identical, twins.
<div id="attachment_23903" style="width: 209px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23903" class="wp-image-23903 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2016/04/HMbarek2-199x300.jpg" alt="Hamdi Mbarek" width="199" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/04/HMbarek2-199x300.jpg 199w, https://blogcms.23andme.com/wp-content/uploads/2016/04/HMbarek2-768x1156.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/04/HMbarek2-680x1024.jpg 680w, https://blogcms.23andme.com/wp-content/uploads/2016/04/HMbarek2-584x880.jpg 584w, https://blogcms.23andme.com/wp-content/uploads/2016/04/HMbarek2.jpg 783w" sizes="auto, (max-width: 199px) 100vw, 199px" />Hamdi Mbarek</div>
<h6>Fertility</h6>
The findings also offer more insight into female fertility and ovarian function as one of the variants is near a gene called FSHB that plays a role in the onset of puberty in girls, age of menopause, and risk for polycystic ovary syndrome (PCOS), a leading cause of infertility.
The findings, published in <a href="http://www.cell.com/ajhg/fulltext/S0002-9297(16)30043-X" target="_blank" rel="noopener noreferrer">The American Journal of Human Genetics</a> could have important clinical value for treatment of female infertility, including hormonal stimulation for ovarian production, which is commonly used for In Vitro Fertilization (IVF). They might also help clinicians identify women who are more likely to have twins or triplets while undergoing IVF.
The authors of the paper said the study will have “important implications for human fertility, including improved outcome prediction and novel avenues of fertility treatment.”
<h6>Maternal Genetics and Twins</h6>
Although it has long been established that there was a maternal genetic component to non-identical twinning, this is the first time that scientists have identified the possible genes involved.
About 1-to-4 percent of babies born is a fraternal, or dizygotic, twin. However, a mother with one of the variants identified in this study increases her odds of naturally having multiples by 9-to-18 percent, according to the study. The increase goes up to 27 percent if she has one of each variants.
This type of &#8220;twinning&#8221; occurs when more than one egg is released in a woman’s cycle and fertilized.  Identical, or monozygotic, twins are much rarer, accounting for just a quarter of all twin births. Research has not shown that having identical twins is influenced by genetics.<img loading="lazy" decoding="async" class="aligncenter wp-image-23901 size-large" src="http://35.88.189.111/wp-content/uploads/2016/04/114120_web-1024x768.jpg" alt="" width="1024" height="768" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/04/114120_web-1024x768.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2016/04/114120_web-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2016/04/114120_web-768x576.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/04/114120_web-880x660.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2016/04/114120_web-1180x885.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2016/04/114120_web.jpg 1440w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />
<h6>The Role of Hormones</h6>
Hamdi Mbarek and Dorret Boomsma from the Vrije Universiteit Amsterdam lead the international team. The researchers identified one genetic variant located near the FSHB gene that encodes a portion of follicle-stimulating hormone (FSH). The FSH hormone is important for the menstrual cycle and egg production in women. This variant was also associated with higher FSH levels. Higher FSH levels is associated with earlier age at menarche and menopause, earlier age at first child and last child, increased number of children, and decreased risk for PCOS.
The second genetic variant identified in this study is located in a gene called SMAD3. The authors speculate SMAD3 may influence how the ovaries respond to the FSH hormone.
For their research the scientists conducted a genome-wide association study using data from 1,980 mothers of natural fraternal twins. They used additional data from about 13,000 mothers of non-twins from cohorts in the United States, Australia and the Netherlands. Most of the data was from a large Icelandic cohort assembled by the company DeCODE.
The findings were also replicated using data from another 300,000 cases and controls from DeCODE.
Data from<a href="https://www.nature.com/ncomms/2015/151109/ncomms9842/full/ncomms9842.html"> 23andMe’s study</a> on the onset of puberty in women was used in this research. The study also included data from<a href="https://www.nature.com/ncomms/2015/150929/ncomms9464/full/ncomms9464.html"> another study</a> on the genetic associations with PCOS. All together those studies included data from more than 160,000 female 23andMe customers who consented to research.

Latest Posts — Page 100