By Alexa Reynoso, 23andMe Associate Scientist, Genetic Epidemiology
The use of electronic cigarettes, or vaping, is associated with several unhealthy behaviors and traits particularly among young people, according to new data from 23andMe.
But the data merely notes an association between vaping and those behaviors and traits, it’s not an indication of causation. Unlike the long-established research that links smoking to cancer, disability, and death, there remains a dearth of data on the health effects of vaping. Some recent studies have linked vaping to deleterious effects on the lungs. And last year a Stanford study found an association between<a href="https://www.jahonline.org/article/S1054-139X(20)30399-2/fulltext#secsectitle0050"> risk for COVID-19 and vaping</a> among young people.
<h2>Health Impacts</h2>
Scientists are still at the beginning of understanding the long-term health implications of e-cigarettes. At 23andMe we’ve only been collecting data on vaping for about a year. In the summer of 2020, our researchers added new questions to our smoking survey to account for vaping and e-cigarette use.
By looking at data we’ve gathered from the more than 76,000 customers who consented to participate in research and responded to our smoking survey, we were able to explore demographic and other characteristics of e-cigarette users. We were then able to compare people who vape to those who smoke just cigarettes, or who both smoke and vape (dual users), and those who don’t smoke or vape at all. (Note: This is not a representative sample of the entire 23andMe population, nor is it representative of national numbers. The CDC estimates that 4.5 percent of adults in the United States vape.¹ Among 23andMe research participants, only about .2 percent, or 19,000 individuals, reported being regular e-cigarette users. The sample for this research is composed only of respondents to our Smoking survey.)

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="683" src="https://blogcms.23andme.com/wp-content/uploads/2021/08/GettyImages-975633438-1024x683.jpg" alt="" class="wp-image-29075" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/08/GettyImages-975633438-1024x683.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/08/GettyImages-975633438-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/08/GettyImages-975633438-768x512.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/08/GettyImages-975633438-880x587.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2021/08/GettyImages-975633438-1180x787.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
<h2>What are E-Cigarettes?</h2>
Before we get into what the data showed, it’s worth understanding a bit more about how e-cigarettes work.
Introduced in 2004,² e-cigarettes were first touted as a less harmful way for smokers to kick their habit. Unlike with cigarettes, users of e-cigarettes are not inhaling smoke. They are inhaling a smoke-like aerosol, or vapor, produced when these devices heat a liquid that usually contains nicotine but also other potentially harmful substances.¹
While vaping may be helping some who are trying to kick their smoking habit, it may also be a gateway for others starting a nicotine addiction. This could be particularly relevant for young people. Juul Labs recently paid a $40 million settlement to the state of North Carolina for allegedly targeting youth in its marketing. According to a study on vaping trends published last year in the<a href="https://www.nejm.org/doi/full/10.1056/NEJMc1910739"> New England Journal of Medicine</a>, it was noted that an increase in vaping among young people between 2018 and 2019 was “the largest of any substance tracked” in the last four decades.
<h2>23andMe’s Data on Vaping Among Young People</h2>
In looking at our data, 23andMe researchers found that those between the ages of 18-30 were more likely to vape.

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="512" height="385" src="https://blogcms.23andme.com/wp-content/uploads/2021/08/Figure-1-E-cigs.png" alt="" class="wp-image-29097" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/08/Figure-1-E-cigs.png 512w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Figure-1-E-cigs-300x226.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>
 
Not only were young people more likely to vape, but these younger users of e-cigarettes were also more likely to use them at a higher frequency. Essentially, they take more “puffs” each day than older people in the study who vape. These findings are in accordance with those of the CDC.¹
Beyond being younger, individuals who are dual users — they smoke and vape — come from locations with a slightly lower median household income when compared to cigarette-only users, e-cigarette only users, and those that used none. Lastly, when comparing the four use groups in regards to years of education, research participants that do not smoke or vape tend to have obtained the highest amount of education.
Our researchers also stratified by sex and ethnicity but did not find strong differences as they did with age.
<h2>23andMe Insights</h2>
While we did not look specifically at health outcomes, we did look at various associations with unhealthy behavior and traits.
We found associations between vaping and such things as being more likely to be stressed, depressed, and anxious compared to those who do not vape. People who vape also were more likely to be diagnosed with bi-polar disorder. We saw associations between people who vape being more likely to report poor overall health, low life satisfaction as well as being less likely to exercise and eat right. People who vape in our data also were more likely to eat less fruit, drink more caffeine, need higher doses of pain medication, and are less likely to be a morning person. (More associations found with e-cigarette use within the 23andMe database are summarized in Figure 1. )

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="512" height="418" src="https://blogcms.23andme.com/wp-content/uploads/2021/08/E-cig-associations.png" alt="" class="wp-image-29096" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/08/E-cig-associations.png 512w, https://blogcms.23andme.com/wp-content/uploads/2021/08/E-cig-associations-300x245.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>
 

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="564" src="https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-1-E-Cigs-1024x564.png" alt="" class="wp-image-29095" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-1-E-Cigs-1024x564.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-1-E-Cigs-300x165.png 300w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-1-E-Cigs-768x423.png 768w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-1-E-Cigs-880x485.png 880w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-1-E-Cigs-1180x650.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-1-E-Cigs-271x149.png 271w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-1-E-Cigs-372x204.png 372w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-1-E-Cigs-574x315.png 574w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-1-E-Cigs-980x539.png 980w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-1-E-Cigs.png 1274w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 [/vc_column]
An environment-wide association study of cigarette smokers in our database was also conducted to determine if there are any fundamental differences between research participants that smoke e-cigarettes versus tobacco cigarettes.
<h2>Correlations</h2>
Our results indicated that the two groups are much more similar than they are different. Similar to the e-cigarette results, we saw that smokers were much more likely to experience depression and anxiety. Both cigarette and e-cigarette users also reported a lower general health score. Other interesting correlations (see Figure 2.) were that cigarette smokers tend to drink more alcohol  and tend to be more hot-headed.

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="512" height="414" src="https://blogcms.23andme.com/wp-content/uploads/2021/08/E-cigs-associations-2.png" alt="" class="wp-image-29094" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/08/E-cigs-associations-2.png 512w, https://blogcms.23andme.com/wp-content/uploads/2021/08/E-cigs-associations-2-300x243.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>
 

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="395" src="https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-2-E-cigs-1024x395.png" alt="" class="wp-image-29093" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-2-E-cigs-1024x395.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-2-E-cigs-300x116.png 300w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-2-E-cigs-768x297.png 768w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-2-E-cigs-880x340.png 880w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-2-E-cigs-1180x456.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-2-E-cigs.png 1274w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
Although researchers uncovered correlations between smoking and certain demographic variables, it should be noted that correlation does not equal causation. Proving that certain behaviors or demographics cause another is quite difficult; meaning that we can’t say if someone isn&#8217;t a morning person they must be an e-cigarette user. In order to come to these conclusions, researchers must conduct years of extensive research consisting of numerous rigorous trials and studies.
That’s not to say what we uncovered so far is trivial, but rather we are on the right track. We are still just beginning to understand the long-term health implications of e-cigarettes. Over time, however, with the power of our large research cohort and scientific community, we could uncover more novel associations between e-cigarette use and long-term health effects.
23andMe customers who would like to contribute to our research efforts surrounding e-cigarette usage can take the survey <a href="https://you.23andme.com/research/surveys/tobacco/">here</a>. Not yet a customer? Find out more <a href="https://www.23andme.com/compare-dna-tests/?spt=spt">here</a>.
<hr />
<h2>References</h2>
<ol>
<li>“About Electronic Cigarettes (E-Cigarettes).” Centers for Disease Control and Prevention, Centers for Disease Control and Prevention, 28 Apr. 2021, www.cdc.gov/tobacco/basic_information/e-cigarettes/about-e-cigarettes.html.</li>
<li>Cobb, Nathan K., et al. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2978165/">“Novel Nicotine Delivery Systems and Public Health: The Rise of the ‘E-Cigarette.’</a>” American Journal of Public Health, vol. 100, no. 12, 2010, pp. 2340–2342., doi:10.2105/ajph.2010.199281.</li>
</ol>

23andMe Blog

23andMe Blog Team

23andMe Looks at Data on E-Cigarette Use

Ann, who formerly worked caring for the elderly, learned firsthand how chronic conditions could impact you as you age. So this year after looking at her 23andMe reports, she decided to carve out time to address her own health.
“I feel I have been given a chance to improve and enrich my health, all thanks to 23andMe,” Ann said.
When Ann used 23andMe, it was to help her son learn more about his heritage and background. But in looking at her own results, she saw she had an increased genetic likelihood of developing type 2 diabetes. She didn’t need her nursing training to know this was not something to take lightly. She decided to take action.
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 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="536" src="https://blogcms.23andme.com/wp-content/uploads/2021/08/anne-test-2-1024x536.png" alt="" class="wp-image-29082" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/08/anne-test-2-1024x536.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/08/anne-test-2-300x157.png 300w, https://blogcms.23andme.com/wp-content/uploads/2021/08/anne-test-2-768x402.png 768w, https://blogcms.23andme.com/wp-content/uploads/2021/08/anne-test-2-880x461.png 880w, https://blogcms.23andme.com/wp-content/uploads/2021/08/anne-test-2-1180x618.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2021/08/anne-test-2.png 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
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<a href="https://www.cdc.gov/diabetes/basics/diabetes.html">Type 2 diabetes</a> is a condition where blood sugar is too high. It can develop when your body is unable to make enough insulin and/or respond properly to insulin. An estimated 34 million Americans — or about one in 10 adults in the United States — have type 2 diabetes, according to the <a href="https://www.cdc.gov/diabetes/basics/diabetes.html">Centers for Disease Control and Prevention</a>. Strikingly, one in five people don&#8217;t know they have it. Many others who are prediabetic, about 88 million adults in the United States, don’t even know they are at increased risk. Having type 2 diabetes increases your risk for life-threatening complications, such as heart disease and other organ damage. But, simple changes like eating healthy and getting more exercise can help prevent type 2 diabetes and the complications that can follow. 
23andMe’s Type 2 Diabetes report (Powered by 23andMe Research) estimates your chances of developing the condition by looking at more than 1,000 places in your DNA. It also equips you with information and tools to help you take action since healthy living can help lower your chance of developing it.
With this knowledge from her 23andMe report, Ann and her husband decided to take action to get healthier. After several surgeries, they had both become more sedentary and Ann’s DNA insights inspired them to adopt a healthier lifestyle. They didn’t make any big changes or join any gyms, but they did start walking their dog more, gardening and biking. Ann also bought a new health-focused cookbook and has been making recipes from it ever since. 
Ann and her husband are shocked at how much better food tastes without all the added sugars and fake flavor additives they had used in the past.
“It’s been like a wake-up call for my taste buds. They’ve come alive,” Ann said. They’ve also cut back significantly on sweets. What was once fondly known as their “Blues Drawer” (the vegetable drawer in their fridge filled with chocolate they would dive into when feeling “blue”) hasn’t been refilled since the day Ann opened her reports. While they still indulge from time to time, it’s more about satisfying a craving than overindulging. 
Since making all these changes, Ann and her husband have not only lost weight but generally, just feel better. They love the new recipes they are making and the projects they are working on together.
“This was something positive I could do,” Ann said.

Doing Something Positive For Your Health

23andMe’s internship program provides a diverse array of people with valuable experience and room to grow personally and professionally. The 2021 class of interns was the first to operate remotely, which allowed interns to contribute their talents and insights to the Gene Pool from every corner of the country. 
Read what some of our interns shared about what they accomplished, enjoyed, and experienced during their ten weeks with 23andMe. 
&nbsp;

<h6>Marcos Sandoval, IT Help Desk Intern &#8211; IT <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2021/08/Marcos-S-1-150x150.jpg" alt="" class="alignright size-thumbnail wp-image-29086" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/08/Marcos-S-1-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Marcos-S-1-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Marcos-S-1-372x372.jpg 372w" sizes="auto, (max-width: 150px) 100vw, 150px" /></h6>
In this internship, I’ve learned how to use and provision various enterprise-level tools to help triage any and all IT-related issues. I have also been managing user permissions and troubleshooting problems! Something exciting I have been working on is helping prepare our Sunnyvale IT inventory for the move into a new location. Working at 23andMe has been an exciting opportunity so far, and I’ve learned much in the brief time I’ve spent here.
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<h6>Enyonam Odoom, Healthcare Operations Intern &#8211; Healthcare Operations <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2021/06/Enyonam-O-150x150.png" alt="Photo of Enyonam Odoom" class="alignright size-thumbnail wp-image-28974" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/Enyonam-O-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Enyonam-O-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Enyonam-O-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Enyonam-O-372x372.png 372w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Enyonam-O.png 499w" sizes="auto, (max-width: 150px) 100vw, 150px" /></h6>
I&#8217;ve really enjoyed meeting with all the researchers at the company during my time here. Everyone, including researchers outside of my direct team, opened their calendars to me. It&#8217;s been a great opportunity to learn about what work is being done here, get career advice and mentorship, and just understand what working at 23andMe full time is like. I really appreciated that part of the internship. I&#8217;ve also loved learning more about how we can use genetics to help improve health, as that&#8217;s not something that was really emphasized while I was in school.
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<h6>Taylor Cavazos, Computational Biology Intern &#8211; Therapeutics<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2021/06/Taylor-Cavazos_Headshot-150x150.jpg" alt="" class="alignright size-thumbnail wp-image-29009" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/Taylor-Cavazos_Headshot-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Taylor-Cavazos_Headshot-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Taylor-Cavazos_Headshot-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Taylor-Cavazos_Headshot-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Taylor-Cavazos_Headshot-980x980.jpg 980w" sizes="auto, (max-width: 150px) 100vw, 150px" /></h6>
As a computational biology intern with 23andMe’s Therapeutics team, I’m working on an exciting project that incorporates ancestry to identify variants in the human genome that alter our gene expression. It has been amazing to have the opportunity to conduct research at 23andMe that prioritizes the inclusion of diverse participants and has the potential to drive the development of new therapies. I not only enjoy working with the incredible researchers at 23andMe, but also the overall culture and environment that encourages creativity! 
&nbsp;

<h6>Mark McAdam, Secure Amazon Web Services Intern &#8211; Security <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2021/08/Mark-McAdams-e1628805752795-150x150.jpg" alt="" class="alignright size-thumbnail wp-image-29087" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/08/Mark-McAdams-e1628805752795-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Mark-McAdams-e1628805752795-271x271.jpg 271w" sizes="auto, (max-width: 150px) 100vw, 150px" /></h6>
If Terraform feels like a superpower when it comes to provisioning resources in AWS, running Terragrunt on top of Terraform feels like managing a team of superheroes. It&#8217;s literally that powerful. I am on a team that is building an application stack that allows people to provision resources to use in AWS without having to worry if they are building it securely, the safeguards are in place. 
Every day I come to work, I get to rub shoulders with a team of brilliant individuals as I try to match their skill and enthusiasm. I get to work on solving problems that have real-world implications. 
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<h6>Cailyn Schiltz, Internal Communications Intern &#8211; Communications<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2021/06/Cailyn-S-150x150.png" alt="" class="alignright size-thumbnail wp-image-28969" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/Cailyn-S-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Cailyn-S-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Cailyn-S-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Cailyn-S-372x372.png 372w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Cailyn-S.png 499w" sizes="auto, (max-width: 150px) 100vw, 150px" /></h6>
Working in Internal Comms has taught me just how important every facet of a company is. I planned a Customer Panel for National Sisters&#8217; Day, and getting to see the real-world impacts of 23andMe was so powerful. People find families and can learn life-changing information from their genetic reports, and none of that would be possible without everyone at the company doing their part. Internal Comms is the glue holding the whole operation together. 
This internship has challenged not only my writing skills, but my creativity and leadership skills. I was responsible for weekly newsletters, DEI initiatives, and redesigning the company intranet. What made it truly special was the culture at 23andMe and the incredible team I got to work with. I felt like my thoughts were valued and had an impact, and I was comfortable stepping outside of my comfort zone. Interning with 23andMe gave me experience in a new field, a broader perspective on what it means to be a communicator, and the confidence to push myself to learn.
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<h6>Bhairavi Swaminathan, Statistical Genetics Intern &#8211; Research<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2021/06/bhairavi-S-150x150.jpg" alt="" class="alignright size-thumbnail wp-image-29008" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/bhairavi-S-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2021/06/bhairavi-S-271x271.jpg 271w" sizes="auto, (max-width: 150px) 100vw, 150px" /></h6>
My internship goal was to replicate and test a publicly available fine-mapping tool with publicly available GWAS data. I definitely learned a lot both in aspects of science and skill sets &#8211; I got to process large datasets and code in a new language. Working at 23andMe has been an amazing experience: I learned a lot about different roles in different departments. People are approachable, friendly, and excited about what they do. I especially enjoyed working with my mentor, Karl, and the discussions with my colleague, Pierre. 
&nbsp;

<h6>April Orozco, Environmental Health &amp; Safety Specialist Intern &#8211; Workplace <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2021/06/April-O-150x150.png" alt="A photo of April Orozco" class="alignright size-thumbnail wp-image-28968" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/April-O-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2021/06/April-O-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2021/06/April-O-372x372.png 372w" sizes="auto, (max-width: 150px) 100vw, 150px" /></h6>
I am most proud of seeing the South San Francisco lab flourish even amidst a global pandemic! With EH&amp;S programs being more thoroughly developed as 23andMe&#8217;s Therapeutics department grows, I feel like I truly have been granted a one-of-a-kind opportunity to identify, develop, and mature EH&amp;S programs that can have a lasting effect. Also, everyone I have met in the office and virtually  have been remarkably open to filling in any gaps in my knowledge. I’m so grateful for the opportunity to dive into the field with a company fueled by such an amazing mission.
&nbsp;

<h6>Alix Henderson, Archives Intern &#8211; Office of the CEO<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2021/06/Alix-H-150x150.png" alt="A photo of Alix Henderson" class="alignright size-thumbnail wp-image-28976" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/Alix-H-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Alix-H-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Alix-H-372x372.png 372w" sizes="auto, (max-width: 150px) 100vw, 150px" /></h6>
Learning about the 15 year history of 23andMe through its internal archive has been a unique experience within itself. I am most proud of the improvements I have made in organizing and formatting our archived documents for more successful search and retrieval by the 23andMe team. Advancing the accessibility of these documents promotes the efficiency and education of the company&#8217;s growing success. In partnership with the other Archives Intern, Christina Li, we have developed a written account of the history of 23andMe for onboarding team members to potentially utilize in the future. 
Being able to express the milestones that 23andMe has achieved through the years testifies to the culture of the company itself and why I have enjoyed working here through the summer. I have been challenged in developing my archival knowledge and promoted to connect with multiple departments to continue my growth as a student and young professional.
&nbsp;

<h6>Ayanna Ajilore, Diversity, Equity, and Inclusion Intern- People Team <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2021/06/Ayanna-A-150x150.png" alt="A photo of Ayanna Ajilore" class="alignright size-thumbnail wp-image-28964" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/Ayanna-A-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Ayanna-A-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Ayanna-A-372x372.png 372w" sizes="auto, (max-width: 150px) 100vw, 150px" /></h6>
This was my first time working full-time in DEI, so this summer, I really wanted to learn not just about 23andMe but also if this is the type of work I really want to do every day. Fortunately, not only did I affirm that I love this work, but I also found a place that welcomes me to do it to my heart&#8217;s content.
My work involves having a lot of fingers in a lot of different pots, which gave me the chance to see different sides of the job. I  spent the summer actively working on projects to improve our company and our product which was really refreshing. Some companies and people shy away from confronting their issues in DEI, but here, I spend so much time just helping people figure out how to get past a hurdle on a current project or get started on a new one.
While we still have a long way to go, I believe that 23andMe is really a company to watch in this field and I hope that I am able to continue to contribute to its journey.

Intern-al Perspectives

If you asked the average person to point to their gallbladder, the odds are pretty high they might make a vague indication toward somewhere south of their neck but miss the mark, that is unless they’ve had painful gallstones in the past.
Gallstones are actually quite common, affecting an estimated 25 million people in the US alone, according to the<a href="https://www.niddk.nih.gov/health-information/digestive-diseases/gallstones/definition-facts"> National Institutes of Health.</a>
But most often people have no symptoms. Although most people have no symptoms, some are not so lucky and feel a mix of symptoms including pain in the upper abdomen and back, and nausea. Often, the only long-term way to remedy the problem is with surgical removal of the gallbladder. Women and people over the age of 40 are more likely to develop gallstones as are people with Indigenous American or Mexican ancestry. (See sidebar for more information about gallstones among people with Indigenous American ancestry.)
<h6>Higher and to the Right</h6>
<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;">
Gallstones and Indigenous Americans
A few studies have shown that the incidences of gallstones are much higher among those with Indigenous American ancestry — this includes people with Latino ancestry who typically have a mix of European, African, and Indigenous American ancestry.
But why would people with Indigenous American ancestry have a higher likelihood of developing gallstones?
While dietary factors play a role, so too does genetics. This may in part be due to variants in two genes — ABCG8 and TRAF3. A variant in ABCG8 is known to cause a release of excess cholesterol into bile, and a variant in TRAF3 is thought to contribute to increased inflammation in the gallbladder. Both variants were found to be more common among certain populations with Indigenous American ancestry and increase the likelihood of developing stones. It’s possible that the variants conferred an evolutionary advantage for Indigenous people living in the Americas, but modern diets that include more red meat, saturated fats, and sugars undercut that advantage.
Looking at our own data from customers who consented to participate in research, Samantha Ancona Esselmann, Ph.D., a 23andMe Product Scientist, found that Latino participants report higher incidence of gallstones at every age bracket. And again, Latinos typically have some Indigenous American ancestry.
As a side note, Samantha noticed something in the data related to statistics called the “Simpson’s Paradox.” Because 23andMe’s Latino research participants tend to be much younger than our participants with primarily European ancestry, and because gallstones tend to be heavily age-dependent, the first pass at the data seems to show a higher percentage of European participants reporting gallstones. But by controlling for age, Samantha confirmed a much higher incidence of gallstones among Latino 23andMe participants.
Beyond the implications this has for people with Indigenous American ancestry, it’s another important example of how understanding your genetic ancestry can help you better understand your health.
</div>
Before diving a little deeper it’s worth understanding a bit about this tiny organ that’s nestled up against your liver. (For those navigating their own body map, this is in the upper right portion of your abdomen.)
The gallbladder helps store bile, produced in the liver, that in turn assists the body in breaking down and digesting fat. In other words, it’s important for digestion. Things can get mucked up in the gallbladder when stones are formed. The formation of stones in and of itself may not result in symptoms but in some cases, these little masses that form, which can be as small as a grain of sand or as large as a golf ball, can block the outlet of the gallbladder causing severe pain. This often happens after a particularly fatty or large meal. In some cases, this sort of gallbladder attack lasts longer than a few hours and is accompanied by a fever and chills. This is often an indication of something more serious and may require surgery to remove the gallbladder.
<h6>Going Deeper</h6>
So, why do some people develop gallstones, and how do you prevent them? Well like a lot of conditions, your chances of developing gallstones is influenced by both genetic and non-genetic factors.
The good news is that simply maintaining a healthy lifestyle including keeping a healthy weight, exercising regularly, and eating a diet high in fiber, low in unhealthy fats, refined carbs, and sugars can go a long way toward lowering your risk. Your genetics also plays a role.
As part of<a href="https://blog.23andme.com/news/inside-23andme/23andmeplus/"> 23andMe+ Premium,</a> an annual membership with 10+ exclusive reports and features delivered to you throughout the calendar year, we now offer a report that estimates the likelihood of developing gallstones. This report is based on a statistical model that considers 6,950 genetic markers. The model also includes ethnicity and sex to calculate an estimate. The data used in the model comes from 23andMe customers who consented to participate in research.
<h6>Taking Action</h6>
Understanding more about your genetics can be a good next step in learning about your chances of developing gallstones. Remember to talk with your healthcare provider before making any major lifestyle changes. That said, maintaining a healthy weight, eating a diet that is low in saturated fat, refined carbs, sugars, and getting plenty of exercise can go a long way toward reducing your likelihood of developing gallstones.
To learn more about 23andMe+ Premium membership, go<a href="https://www.23andme.com/membership?fdpt=true"> here</a>.
***23andMe health predisposition reports include both reports that meet FDA requirements for genetic health risks and reports which are based on 23andMe research and have not been reviewed by the FDA. The test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. For important information and limitations regarding each genetic health risk report, visit 23andme.com/test-info/.

New 23andMe+ Premium Report on Gallstones

When Melissa Tarantino talks about facing challenges every day to her special needs students at a middle school near Sacramento, they listen. They all are aware that she knows what she&#8217;s talking about.
A former gymnast, Melissa learned at 19 that the pain and numbness in her hands was a symptom of scleroderma, a rare disease that she&#8217;d never heard of before. The diagnosis came after more than a year of being treated, including two surgeries for what doctors thought was carpal tunnel syndrome brought on by her years in gymnastics. It was a heavy diagnosis for someone who was just starting college.
When the doctor gave her the diagnosis, she asked:
&#8220;Will I ever be able to do a cartwheel again?&#8221;
<h6>Cartwheels and Research</h6>
That was eight years ago now. Melissa was able to do cartwheels again, but it hasn&#8217;t been easy.
She recently chatted with 23andMe about how she&#8217;s approached living with scleroderma, a progressively debilitating autoimmune disease that often results in tightening and hardening of the skin, muscle weakness, and pain. The condition affects an estimated <a href="https://worldsclerofound.org/what-is-ss/">2.5 million people</a> globally. Most of those with systemic sclerosis — about 80 percent — are women like Melissa between 16 and 45.
Although there are some treatments for this progressively debilitating autoimmune disease, there currently is no cure. But there is promising research like that being done by 23andMe.
Our conversation with Melissa is one in an occasional series on the blog about rare diseases like scleroderma. You can read some of the other posts about new insights into the <a href="https://blog.23andme.com/23andme-research/new-way-to-study-rare-disease/">study of rare diseases</a>, living with another rare disease idiopathic pulmonary fibrosis, and a discussion with a community engagement director for the <a href="https://blog.23andme.com/23andme-research/scleroderma-research/">Scleroderma Research Foundation</a>. The posts detail studies into rare diseases, as well as two specific studies 23andMe is currently recruiting for — <a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/">idiopathic pulmonary fibrosis</a>, a chronic progressive lung disease, and <a href="https://www.23andme.com/systemic-sclerosis-study/">systemic sclerosis</a>, a form of scleroderma.
Melissa, who is participating in <a href="https://www.23andme.com/systemic-sclerosis-study/">23andMe&#8217;s Systemic Sclerosis Study</a>, said it&#8217;s important to contribute to the effort.
&#8220;Of course, I&#8217;m participating,&#8221; she said. &#8220;I just want to be able to help in whatever way I possibly can.&#8221;
Here&#8217;s more of what Melissa had to say.
<h6>Many people with a rare disease talk about how difficult it was to simply find the right diagnosis. Was that your experience?</h6>
The backstory is that I’d been a gymnast all my life, from like second grade to senior year of high school. I decided I wanted to stop and be a kid again, you know, go to the prom and not have to train 30 hours a week.
After I stopped, I started noticing pain and numbness in my hands. The doctors thought it was carpal tunnel from all that training, so I had surgery first on one hand and then the other.
My freshman year in college I still had pain, the knuckles in my hands were super swollen and I started to gain weight, then lose it, and I had this bloating in my face. The pain in my hands was really bad. At one point during a history final, it hurt so bad that I was crying. At that point, I went back to the doctor and they still thought the pain was from my time as a gymnast. The doctor told me to take acetaminophen. It was super frustrating.
<h6>What changed?</h6>
I knew something was wrong and my mom knew it too. We switched doctors and got blood work done. Even before the appointment my mom and I looked at the results from the lab work and then sort of self-diagnosed things. We looked up lupus and scleroderma while we sat on the couch. We weren’t 100 percent sure but we kind of pieced things together. We didn’t know anyone who had (scleroderma). We never heard of it before.
But we lucked out and got connected to a good rheumatologist with connections to Stanford who’d actually studied the disease. So, after the first diagnosis, I’ve had good care.
<h6>What were some of the hardest things for you during that time?</h6>
I was in college, and as I said, I wanted to live a college life. I wanted to live my life as a young person. So, at first, I didn’t take all the heavy medications that were prescribed. I let my doctor know. (Among the medication she waited to take was an immunosuppressant methotrexate. She waited to take it because of some of its side effects.)
Like I said I didn’t know anything about scleroderma until we’d Googled it, and everything we read online basically said you die right away. I didn’t have high hopes, but it turns out I won the scleroderma lottery. The kind of scleroderma I have isn’t affecting my internal organs now. Once I had my years in college, I started using the immunosuppressant methotrexate. Maybe I wouldn’t have lost some of the bone that I lost if I’d started taking it during college, but I’m glad I had that time in college to lead a somewhat normal student life.
<h6>What are some of the things you find that help you day-to-day?</h6>
Five years is a big marker for this condition, and I’m now seven or eight years in, and I’m at my healthiest. I now do powerlifting and being active really helps me feel better. You know before I started powerlifting I did tell myself I wanted to prove my doctor wrong.
So, while I was at Sacramento State I joined a gymnastics club and ended up competing in Nationals when they were in Sacramento. I proved that I could do cartwheels. I might have done them a little differently than I did before, but I did them. I did four events. Once I did that, I knew that having a physical outlet was important for me but I needed to shift to something else so that’s when I started powerlifting. 
Powerlifting really helps me release stress. I usually try and go at about 3:30 in the morning before I start my day. When I don’t work out my kids (who she teaches at a middle school in Sacramento) know it, and usually say something.
<h6>How has being involved with different groups such as the Scleroderma Research Foundation helped you?</h6>
Going to their fundraisers or conferences helped me meet more people with the disease who were actually my age. That’s been very helpful for my mental health. I don’t feel alone and I can talk to someone who I can ask about, you know, things like dating or how to deal with changes in your appearance. That kind of stuff has really helped.
<h6>Why are you participating in 23andMe’s Systemic Sclerosis Study?</h6>
Of course, I&#8217;m participating. I&#8217;ve actually tried to participate in other (scleroderma) studies but this is the first I qualified for.
I’m participating in the 23andMe study because I just want to be able to help in whatever way I possibly can. This disease isn&#8217;t going to just go away. I have it for life, so this is something I can do now in my lifetime to help others. It might not make a difference for me but it might for someone in the future.

Living with Scleroderma

A new study that identified genes linked to longer fertility in women comes as data show a sharp decline in birth rates during the pandemic, which accentuated a decades-long trend in women putting off having children until later in life.
<h6>Reproductive Aging</h6>
Published this week in the journal <a href="https://www.nature.com/articles/s41586-021-03779-7">Nature</a>, the study identified about 300 genetic variants that influence longer reproductive lifespan. Beyond simply identifying these genetic variants, the scientists were able to manipulate some of those genes in mice to successfully extend the reproductive lifespan. The findings offer some hope to those studying fertility in women.
“Improved understanding of the biological processes involved in reproductive aging could lead to improvements in fertility treatment options,” said Professor Eva Hoffman of the University of Copenhagen. Hoffman co-authored the new study.
<h6>New Insight for Women</h6>
The study gives a better understanding of the genetic influences for extending reproductive health. But it also also offers insights into identifying which women might reach <a href="https://www.nature.com/articles/d41586-021-01710-8">menopause earlier than other</a>s. This in turn could help those women decide on the timing of when or if to have children.
“We can start to predict which women might have an earlier menopause and therefore struggle to get pregnant naturally,&#8221; said Dr. Katherine Ruth, of the University of Exeter, and a study co-author. &#8220;And because we are born with our genetic variations, we could offer this advice to young women.”
<h6>More Delaying Having Children</h6>
Life expectancy has dramatically gone up over the last century or more. But the age at which women enter menopause — around 50 — has not changed. Women are born with all the eggs they will ever carry. These are gradually lost with age. Menopause occurs once most of a woman&#8217;s eggs are gone.  But fertility declines substantially before that time, making it much more difficult for some women to get pregnant. There are a number of factors playing into the delay in having children including financial and career considerations. According to<a href="https://www.cdc.gov/nchs/data/vsrr/vsrr012-508.pdf"> newly released data</a>, the COVID-19 pandemic resulted in the sharpest drop in childbirth in more than a century.
Many of the genes the study identified are associated with the process of DNA repair and are active before birth when human eggs are created and stored. These include the genes CHEK1 and CHEK2, which regulate a broad variety of DNA repair processes.
“We saw that two of the genes which produce proteins involved in repairing damaged DNA work in opposite ways with respect to reproduction in mice,” said Professor Ignasi Roig. Roig is another of the study&#8217;s co-authors and works at of the Autonomous University of Barcelona.
The researchers found that turning off the function of the gene CHEK2, while enhancing the expression of CHEK1, extended the reproductive lifespan of mice by about 25 percent. The study also looked at women who naturally lack an active CHEK2 gene. They found that these women reach menopause on average 3.5 years later than women with a normally active gene.
For this study, the researchers relied on a global collaboration involving more than 180 academic institutions. The study included data from hundreds of thousands of women. This included 300,000 female customers from 23andMe who consented to participate in research. The researchers also included data from the<a href="https://www.ukbiobank.ac.uk/"> UK Biobank</a> and several other study cohorts. While most of the de-identified and aggregated data was from women of European ancestry, the researchers also looked at data from women of East Asian ancestry.
<h6>Menopause</h6>
The team discovered that many of the genes involved are linked to processes of DNA repair. They also found that many of these genes are active from before birth, when human egg stores are created. But they are also active throughout life as well. Female mice with more of the CHEK1 protein are born with more eggs and they take longer to deplete naturally, so reproductive lifespan is extended. The second gene, CHEK2, has a similar effect. It allows eggs to survive longer, but in this case, the gene has been knocked out so that no protein is produced.”
The team also examined the health impacts of having an earlier or later menopause by using an approach that tests the effect of naturally occurring <a href="https://www.23andme.com/dna-health-ancestry" target="_blank" rel="noopener">genetic differences</a>. They found that genetically earlier menopause increases the risk of type 2 diabetes. It is also linked to poorer bone health and increased risk of fractures. However, it decreases the risk of some types of cancer. This is especially true of some cancers, such as ovarian and breast cancer, that are known to be sensitive to sex hormones. Those hormones are at higher levels in menstruating woman.

Researchers identify genes associated with longer reproductive lifespan in women

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If you&#8217;re lucky, you have a friend who has become so close that you think of them as a sibling.
That&#8217;s what it was like for Julia and Cassie, who first met while working at a bar about nine years ago. They quickly bonded over their shared Dominican heritage and the fact that they&#8217;d both been adopted by families in the states. 
<h6>A Few Things in Common</h6>
It started when Julia noticed the tattoo of a Dominican Republic flag on Cassie&#8217;s arm. &#8220;Hey, are you from the Dominican Republic?&#8221; Julia asked
&#8220;Yeah, but I&#8217;m adopted,&#8221; Cassie said. 
&#8220;Wait, wait, me too,&#8221; Julia said.
Then Julia told her she also had the same Dominican flag tattoo, but it was on her back. So clearly, they had a few things in common.
&nbsp;

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="470" height="1024" src="https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1785-470x1024.jpeg" alt="" class="wp-image-29058" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1785-470x1024.jpeg 470w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1785-138x300.jpeg 138w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1785-404x880.jpeg 404w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1785-541x1180.jpeg 541w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1785.jpeg 639w" sizes="auto, (max-width: 470px) 100vw, 470px" /></figure>
 
Beyond all that, the pair also looked a lot alike. They both have dark hair and brown eyes. And as they talked more, they hit it off and became friends. Customers at the bar in New Haven, would sometimes mistake Julia for Cassie or Cassie for Julia. This prompted the women to kid around that they were sisters, and they sometimes dressed alike. At one point, they even bought shirts: &#8220;I&#8217;m the big sister&#8221; was printed on Cassie&#8217;s shirt. Julia&#8217;s read: &#8220;I&#8217;m the little sister.&#8221; 
It was all meant to be a joke, but earlier this year, they learned that it wasn&#8217;t a joke after all. Julia and Cassie are not just friends; they are sisters.
&#8220;What are the (expletive) odds?&#8221; Cassie said. 
<h6>First They Were Friends</h6>
Julia and Cassie learned early this year through 23andMe that they&#8217;re full sisters, adopted about a year apart from the same family in the Dominican Republic.
They first shared their stunning story with us at 23andMe and on social media back in February, not long after making the discovery. Since then they&#8217;ve been on the <a href="https://www.today.com/video/2-friends-unravel-family-mystery-through-dna-test-109918277983">Today Show</a>, featured in <a href="https://www.goodmorningamerica.com/family/story/friends-worked-learn-biological-sisters-76099870">Good Morning America</a> and on <a href="https://www.youtube.com/watch?v=NfTXT2arl-A">Inside Edition</a> to name a few outlets. Cassie has running updates on her social media channels, and they&#8217;re working on making a documentary about their story. We&#8217;re sharing it again here on <a href="https://en.wikipedia.org/wiki/Friendship_Day">Friendship Day</a>, but the details are interesting enough that we don&#8217;t really need a reason.
Julia and Cassie&#8217;s story is a little complicated. Like many adoptees, they both wanted to know a little more about where they came from and who their birth parents were. However, during the eight years of their friendship, they did wonder if their joke about being sisters or somehow related might have been rooted in truth. At one point, they looked through their adoption records and saw different cities of origin and different family names. They assumed that meant it wasn&#8217;t possible that they were related and left it at that. Of course, it would have been cool if they were related, but that would have been too crazy to have been possible, they thought.
<h6>Cassie&#8217;s Finds Family </h6>
Cassie kept searching, however, and in 2018 after her mom gifted her a 23andMe kit, she opted into <a href="https://www.23andme.com/dna-ancestry" target="_blank" rel="noopener">DNA Relatives</a> and soon found a cousin in Connecticut. The cousin helped her find her biological family in the Dominican Republic. Soon, she connected with her birth father and her seven siblings. In 2019, Cassie traveled there and met them all in person. It was both overwhelming and joyous. She stayed three weeks. Her father, Adriano, cried a lot and kept telling her how sorry he was about giving her up. Still, Cassie knew that he and her birth mom were trying to give her a better life. Sadly, Cassie&#8217;s birth mother had died suddenly of a heart attack just four years before her visit. 
Julia watched all this from the sidelines. She was happy for Cassie, but she didn&#8217;t have the same urge to jump into a search for her biological family. It felt overwhelming. This is where it gets a little complicated. Julia had another friend, a childhood friend, who&#8217;d also been adopted from the Dominican Republic. Her name is Molly. Molly and Julia were adopted on the same day. But last year as Molly was doing her own search she noticed that Julia and her adoption papers appeared to have been mixed up. There were two different last names in the paperwork. One of those was related to Cassie&#8217;s birth family. So filling in Cassie about what they found, Cassie turned around and called her birth father in the Dominican Republic.

 <figure class="wp-block-image size-Large is-style-default"><img loading="lazy" decoding="async" width="2560" height="2560" src="https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1513-scaled.jpeg" alt="" class="wp-image-29060" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1513-scaled.jpeg 2560w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1513-150x150.jpeg 150w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1513-300x300.jpeg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1513-768x768.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1513-1024x1024.jpeg 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1513-880x880.jpeg 880w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1513-1180x1180.jpeg 1180w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1513-271x271.jpeg 271w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1513-372x372.jpeg 372w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1513-574x574.jpeg 574w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1513-980x980.jpeg 980w" sizes="auto, (max-width: 2560px) 100vw, 2560px" /></figure>
 
&#8220;Papá did you give up another baby, a little girl?&#8221; she asked him.
&#8220;Yes.&#8221; 
He told her that he and her birth mother had given up another girl, about a year after Cassie&#8217;s birth. They were still struggling, and their older son was very ill, and they worried that they wouldn&#8217;t be able to care for her. Cassie wasn&#8217;t upset. She was thrilled. She called Julia. Maybe they are related after all.
<h6>Could it be? </h6>
Then a few days after Christmas, she drove from Virginia to Connecticut to bring a 23andMe kit to Julia and urged her to spit. A few weeks later, when Julia got an email notification that her results were in, she called Cassie, and her friend Molly before opening her results. 

 <figure class="wp-block-image size-Large is-style-default"><img loading="lazy" decoding="async" width="2560" height="2560" src="https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1400-scaled.jpeg" alt="" class="wp-image-29059" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1400-scaled.jpeg 2560w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1400-150x150.jpeg 150w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1400-300x300.jpeg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1400-768x768.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1400-1024x1024.jpeg 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1400-880x880.jpeg 880w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1400-1180x1180.jpeg 1180w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1400-271x271.jpeg 271w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1400-372x372.jpeg 372w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1400-574x574.jpeg 574w, https://blogcms.23andme.com/wp-content/uploads/2021/07/IMG_1400-980x980.jpeg 980w" sizes="auto, (max-width: 2560px) 100vw, 2560px" /></figure>
 
&#8220;Cassie, I am in fact, your biological sister,&#8221; Julia said. 
Cassie broke down crying with joy. She shared the news with her birth father, who was equally overwhelmed. And then adding more good fortune came to her. 
&#8220;Cassie is very pregnant with MY niece,&#8221; said Julia. 
Julia and Cassie will be heading to the Dominican Republic in March so Julia can meet their entire birth family for the first time.

Long Time Friends Find Out They’re Actually Sisters

Systemic sclerosis, a form of scleroderma, is a rare disease that causes the hardening of the body’s connective tissue.
Gloria Blecha, the Director of Community Engagement at the <a href="https://srfcure.org/">Scleroderma Research Foundation</a> (SRF), explains that the autoimmune disorder is characterized by systemic inflammation which often presents with “puffy” hands although other areas of the body can be affected. Ultimately, the inflammation triggers a secondary process that is the production of collagen which is a core material of scar tissue. This secondary process, which is called fibrosis, is often uncoupled to the initial inflammation. In the most serious cases, fibrosis can result in irreversible damage to specific organs such as the heart, lungs, and/or digestive system. In other situations, there can be loss of function of the hands.
Scleroderma is best thought of as a single disease but in actuality can be complex and have a variable course such that some patients are affected early with aggressive changes while others have fewer symptoms and the disease progresses slowly. Treatment depends on the symptoms that are present and the organs that are affected and because scleroderma is a heterogeneous disease, meaning it presents differently in each patient, treatments that work for one patient may not be effective for another.
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Scleroderma affects an estimated <a href="https://worldsclerofound.org/what-is-ss/">2.5 million people</a> globally, and most of them — about 80 percent — are women of between 16 and 45. Although there are some treatments for this progressively debilitating autoimmune disease, there currently is no cure. But there is promising research, including work supported by the Scleroderma Research Foundation and 23andMe. 23andMe is currently recruiting for two rare disease studies, <a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/">idiopathic pulmonary fibrosis (IPF)</a>, a chronic progressive lung disease, and 23andMe launched the <a href="https://www.23andme.com/systemic-sclerosis-study/">Systemic Sclerosis Research Study</a> last year. The study on systemic sclerosis aims to gather new genetic insights that could lead to new treatments for the condition.
23andMe’s unique research model offers a different approach to <a href="https://blog.23andme.com/23andme-research/new-way-to-study-rare-disease/">studying rare diseases</a>. By leveraging this approach, 23andMe hopes to help study systemic sclerosis at a scale that has not been possible in the past. That’s in part why 23andMe is currently working with the Scleroderma Research Foundation to help get the word out about our study. The foundation is a nonprofit that invests in scleroderma research conducted worldwide.
We sat down, virtually, with Gloria to talk a bit about the condition, the need for research, and the challenges of studying a rare disease like scleroderma.
<h6>In a way, the foundation’s origin story is sort of emblematic of rare diseases in general. Can you talk a bit about that?</h6>
Getting a diagnosis for any serious disease can be traumatic, but in rare diseases like scleroderma, there is this added issue of the unknown. For patients with a rare disease, there often isn’t a lot of information out there. The foundation was founded in 1987 by Sharon Monsky, three years after being diagnosed with scleroderma. She was shocked at how little was understood about the disease and the lack of efforts being made to find a cure. Using her business acumen and expertise, she took it upon herself to bring national attention to this disease and was soon privately funding research at two centers on the east and west coasts. Today we are the largest nonprofit supporting scleroderma research in the U.S. and Sharon’s collaborative approach and innovative spirit continue to drive the SRF’s mission to this day.  (Sharon <a href="https://www.nytimes.com/2002/05/17/us/sharon-monsky-48-leader-in-fight-against-rare-illness.html">passed away</a> in 2002.)
<h6>Last month, June, was Scleroderma Awareness Month, and the foundation spearheaded a social media campaign called ‘#SayScleroderma.’ What was the goal of that campaign?</h6>
Our primary goal is to fund research and find a cure for scleroderma and we additionally raise awareness and provide education for people living with this disease. We launched the #SaySCLERODERMA campaign because not enough people know what scleroderma is or does and this lack of awareness can delay diagnosis. 
All month long we shared stories of brave scleroderma warriors and their supporters. We created a toolkit using the hashtag #SaySCLERODERMA and challenged others to spread awareness by saying the word or posting videos explaining what this disease means to them on social media. Our goal is to bring a global spotlight on the word scleroderma and bring knowledge of the disease forward so that more people know what it is and what it does. 
<h6>What is encouraging that you are seeing in the way of research and treatments?</h6>
Although the search for more targeted disease-modifying therapy is ongoing, what is encouraging is that there are now treatments available for some of the symptoms of scleroderma. For example, people suffering from something called Raynaud’s phenomenon, which affects circulation to the fingers and toes, have calcium channel blockers and alpha-blockers that can help with symptoms. But as I mentioned earlier, the more awareness there is the more likely it is that people will be diagnosed early which can improve their response to treatment. 
<h6>Late last year 23andMe launched our Systemic Sclerosis Study. Why is the foundation helping 23andMe to encourage people with the condition to participate in this research?  </h6>
We share 23andMe’s commitment to advancing research and believe genetics could be vital to finding new insights into scleroderma. Supporting <a href="https://www.23andme.com/systemic-sclerosis-study/?utm_source=srf&amp;utm_medium=referral&amp;utm_campaign=systemic_sclerosis">this research study</a> and encouraging participation could help accelerate the pace of discovery and make a meaningful impact on finding new treatments and a cure. 23andMe is also unique in that it offers an easy way to participate in research. You don’t have to go to a specific center in a specific city. You can do it from your home and answer questions online, and patients really want to do that.

A Conversation with the Scleroderma Research Foundation’s Gloria Blecha

Earlier this summer, a consortium that included more than 3,000 researchers and scientists from around the world jointly published a summary analysis on genetic clues linked to both the susceptibility to COVID-19 and to the most severe cases of people who contracted the virus.&nbsp;&nbsp;&nbsp;
Published in the journal Nature,<a href="https://www.nature.com/articles/s41586-021-03767-x"> the paper notes</a> 13 genetic associations found in genes or gene regions involved in such things as immune response, blood type, and lung disease.
The findings help shed light on the biological pathways in not just how people become sick with the virus but why some people become severely ill from it. The hope is that these <a href="https://www.23andme.com/dna-health-ancestry" target="_blank" rel="noopener">genetic insights</a> will help researchers hunting for therapeutics for treating the virus.
“The better we get at treating COVID-19, the better equipped the medical community could be to manage the disease,” said<a href="https://www.broadinstitute.org/node/7003"> Ben Neale</a>, co-director of the<a href="https://www.broadinstitute.org/node/8507"> Program in Medical and Population Genetics</a> at the Broad and co-senior author of the study. “If we had a mechanism of treating infection and getting someone out of the hospital, that would radically alter our public health response.”
But almost as striking as the genetic findings are the level of collaboration among scientists that formed into this loose consortium known as the<a href="https://www.covid19hg.org/"> COVID-19 Host Genetics Initiative</a>. The initiative began in March of 2020 by scientists at the<a href="https://www.fimm.fi/en/"> Institute for Molecular Medicine Finland, University of Helsinki</a>, and the Broad Institute of MIT and Harvard, and quickly grew from there.&nbsp;
Among the researchers are those from both the private and public sector, from academic institutions and public companies — including scientists from 23andMe — who joined forces to pool what they’ve learned.
“This has exceeded anything I’ve seen in my lifetime,” said Janie Shelton, a 23andMe senior scientist, and epidemiologist. “The rate we’ve been able to collaborate with international teams to uncover the genetic vulnerability to COVID-19 has been incredible.”
Over the last year, several participants in the initiative have already published their findings that ultimately became part of this broader paper. For instance, 23andMe published last June on our findings around genetic associations between the genes that <a href="https://blog.23andme.com/23andme-research/blood-type-and-covid-19/">influence blood type</a> and a person’s susceptibility to COVID-19 and the severity of their symptoms. This year, we published on genetic associations with COVID-19 and<a href="https://blog.23andme.com/23andme-research/scientists-find-genetic-link-to-loss-of-smell-among-covid-19-patients/"> loss of smell and taste</a>, as well as created a tool to help people better understand<a href="https://blog.23andme.com/health-traits/covid-19-severity-calculator/"> the non-genetic factors</a> that contribute to a higher risk for hospitalization due to the virus.
Since launching our<a href="https://you.23andme.com/covid19-study/"> COVID-19 Research Study</a> soon after the pandemic began, we have been sharing our findings with the broader scientific and medical community to help address this health crisis.
As Janie said in an interview earlier this year:
“It’s important for us to unveil our findings as publicly as possible.”
The researchers now plan to focus their attention on so-called “long-haulers,” people who have had the virus who continue to have symptoms for months.
You can read more about the paper<a href="https://www.nature.com/articles/s41586-021-03767-x"> here</a>.
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A logo for 23andMe's COVID-19 Research Study

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