23andMe Blog

23andMe Blog Team

My Risk of Developing the “Disease of Kings.”

This is part two of our introduction of 23andMe’s new class of summer interns. You can see the <a href="https://blog.23andme.com/articles/introducing-23andmes-2021-summer-interns-part-i/">first batch of interns here</a>. This second group of interns will also be working across the company in roles with engineering, computational biology, statistical genetics, design, and IT.
Read on to learn more about this next group of interns. 
If you want to learn more about our intern program, check out the <a href="https://www.23andme.com/careers/">23andMe Careers page.</a> We’ll be posting more details about the program in the fall when we begin recruiting for the next class of interns.  If you still have questions email <a href="mailto:internships@23andme.com">internships@23andme.com.</a> 

<h3>Ludovico Verniani<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-29000" src="https://blog-api.23andme.com/wp-content/uploads/2021/06/Ludovico-V-150x150.jpg" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/Ludovico-V-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Ludovico-V-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Ludovico-V-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Ludovico-V-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Ludovico-V-980x980.jpg 980w" sizes="auto, (max-width: 150px) 100vw, 150px" /></h3>
<h6>iOS Engineering Intern</h6>
Ludovico loves solving real world problems with software and finds much pleasure in learning new technologies to solve them. He is thrilled to bring his creativity to the iOS team this summer to further improve the public&#8217;s discovery of their genome.

<h3>Taylor Cavazos<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-29009" src="https://blog-api.23andme.com/wp-content/uploads/2021/06/Taylor-Cavazos_Headshot-150x150.jpg" alt="" 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" /></h3>
<h6>Computational Biologist Intern</h6>
Taylor is passionate about understanding the genetic architecture of complex traits and developing genetic models that are accurate in diverse populations. She is looking forward to incorporating functional genomics data to explore these questions as a Computational Biologist Intern on the Therapeutics team.

<h3>Bhairavi Swaminathan<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-29008" src="https://blog-api.23andme.com/wp-content/uploads/2021/06/bhairavi-S-150x150.jpg" alt="" 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" /></h3>
<h6>Statistical Genetics Intern</h6>
Decoding the genome has always excited Bhairavi. She spent over 10 years of her career exploring her interest in identifying susceptibility markers and disease mechanisms. She is enthralled by the opportunity to work with the Statistical Genetics team to fine-map susceptibility genes  to identify causal variants.

<h3>Tiffany Lee<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-29007" src="https://blog-api.23andme.com/wp-content/uploads/2021/06/Tiffany-Lee-e1624647683639-150x150.jpg" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/Tiffany-Lee-e1624647683639-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Tiffany-Lee-e1624647683639-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Tiffany-Lee-e1624647683639-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Tiffany-Lee-e1624647683639-574x574.jpg 574w" sizes="auto, (max-width: 150px) 100vw, 150px" /></h3>
<h6>Engineering Intern</h6>
Tiffany is interested in encouraging individual health ownership through easy and accessible health management. She has worked in biotech, pharmacy, and is now working on a post-baccalaureate in computer science. Tiffany is really excited to be joining as an Engineering Intern and being a part of making health information approachable.

<h3>Jason Chan<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-29006" src="https://blog-api.23andme.com/wp-content/uploads/2021/06/Jason-Chan-150x150.jpg" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/Jason-Chan-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Jason-Chan-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Jason-Chan-372x372.jpg 372w" sizes="auto, (max-width: 150px) 100vw, 150px" /></h3>
<h6>UX Design Intern</h6>
Jason is a self-taught UX Designer passionate about developing creative solutions in the healthcare space. He is excited to be joining the Product Design team and contributing to the mission to help customers learn about their genetics in a user-friendly way!

<h3>Kunling Huang<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-29005" src="https://blog-api.23andme.com/wp-content/uploads/2021/06/Kunling-H-150x150.png" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/Kunling-H-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Kunling-H-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Kunling-H-372x372.png 372w" sizes="auto, (max-width: 150px) 100vw, 150px" /></h3>
<h6>Computational Biologist Intern</h6>
Kunling is enthusiastic about designing statistical methods to discover the role of genetic variants. She is really excited to work with the Computational Biology Group in Therapeutics to discover novel disease genes.

<h3>Christina Li<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-29004" src="https://blog-api.23andme.com/wp-content/uploads/2021/06/Christina_Li_headshot-150x150.jpg" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/Christina_Li_headshot-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Christina_Li_headshot-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Christina_Li_headshot-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Christina_Li_headshot-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Christina_Li_headshot-980x980.jpg 980w" sizes="auto, (max-width: 150px) 100vw, 150px" /></h3>
<h6>Office of the CEO, Archive Intern</h6>
Christina is deeply interested in the subjects of public health, policy, data science, and the ways in which various mediums of storytelling can communicate the most critical issues of healthcare today. She is thrilled to be joining the Office of the CEO as an Archive Intern and telling the story of the company&#8217;s history through its archives.

<h3>Marcos Sandoval<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-29003" src="https://blog-api.23andme.com/wp-content/uploads/2021/06/Marcos-Sandoval-150x150.jpg" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/Marcos-Sandoval-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Marcos-Sandoval-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Marcos-Sandoval-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Marcos-Sandoval-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Marcos-Sandoval-980x980.jpg 980w" sizes="auto, (max-width: 150px) 100vw, 150px" /></h3>
<h6>IT Help Desk Intern</h6>
Marcos is an enterprising future IT professional eager to grow and learn as a professional at 23andMe. He can&#8217;t wait to meet everyone and to work with the IT Team to provide IT Solutions for the 23andMe family.

<h3>Cindy Mui<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-29002" src="https://blog-api.23andme.com/wp-content/uploads/2021/06/Cindy-Mui-150x150.jpeg" alt="" width="150" height="150" /></h3>
<h6>Engineering Intern</h6>
Cindy is a newly minted Software Engineer who is interested in the application of machine learning in healthcare. She&#8217;s really excited to be joining the Engineering team as an Intern to help create the best user experiences for 23andMe&#8217;s customers.

<h3>Kenneth Nguyen<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-29001" src="https://blog-api.23andme.com/wp-content/uploads/2021/06/Headshot-Kenneth-Nguyen-150x150.jpg" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/Headshot-Kenneth-Nguyen-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Headshot-Kenneth-Nguyen-271x271.jpg 271w" sizes="auto, (max-width: 150px) 100vw, 150px" /></h3>
<h6>Engineering Intern</h6>
Kenneth is excited to be joining 23andMe as a software engineer intern and working on developing customer-facing features, learning new technologies, and utilizing accessibility tools to impact a broader audience.

Summer Interns 2021, Part II

Recently we chatted with Bill Vick, founder of <a href="https://pfwarriors.com/">PF Warriors</a>, a non-profit group for people living with pulmonary fibrosis, including idiopathic pulmonary fibrosis (IPF).
<h2>A Rare Disease</h2>
Being diagnosed with IPF, as with many other rare diseases, can feel both overwhelming and bewildering. For many, the first time they&#8217;ve heard about the condition is when they get a diagnosis. IPF results in irreparable scarring of the lungs, which progressively worsens lung function. It&#8217;s terminal, and there is no cure. But there is some promising research underway, and last year, <a href="https://www.23andme.com/dna-health-ancestry" target="_blank" rel="noopener">23andMe</a> launched a genetic study of <a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/">idiopathic pulmonary fibrosis</a>. We connected with Bill and PF Warriors through that work.
Bill&#8217;s journey might explain the use of the word &#8220;warrior&#8221; in naming the group. Before a career as a serial entrepreneur — heading up large sales divisions, launching computer software companies, and creating his own executive recruiting firm — Bill was a Force Recon Marine. After he retired from business, he became a competitive masters division athlete and brought that same kind of intensity first tapped into as a Marine and then cultivated working in the corporate world. To prepare for competition he included daily runs, swims, weight lifting, or workouts in the gym. It was while training for a competition that he noticed his swim times dropping. He also noticed that he sometimes had difficulty catching his breath.
It took a while to get a diagnosis, and when he did, it was jarring. He had never heard of Idiopathic Pulmonary Fibrosis before, and he didn&#8217;t know how he got it. (Idiopathic means no known cause.) And he was told there was no treatment. So after coming home from the doctor that day, he and his wife Patti decided that he should get his affairs in order, and then the two of them could knock off their &#8220;bucket list&#8221; of things to do while Bill still could. So they celebrated their 50th wedding anniversary. Bill was 72 at the time. He thought he only had two or three years to live.
But that was ten years ago.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-28929" src="http://35.88.189.111/wp-content/uploads/2021/06/Bill_Vick_Running.jpg" alt="" width="800" height="600" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/Bill_Vick_Running.jpg 800w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Bill_Vick_Running-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Bill_Vick_Running-768x576.jpg 768w" sizes="auto, (max-width: 800px) 100vw, 800px" />
<h2>What are some of the common themes you&#8217;ve heard from people about first getting diagnosed?</h2>
I, like many, was diagnosed by chance as I had a cough, weight loss, and shortness of breath that my family doctor could not explain. And you know, if I hadn&#8217;t been training so hard and been so in tune with minor changes in my body, I might not have noticed.
I was 72, but I was an active triathlete, and I&#8217;d been a competitive jock all my life. I was training for a short course race here in Texas and started noticing my swim times dropping. So I went to my doctor, and he thought it might be athletic asthma or bronchitis or COPD, and gave me an inhaler, and then a nebulizer. But that didn&#8217;t help much. I think that went on for about a year before I went to a pulmonologist. They did a high-resolution CT scan and a biopsy.
When the results were in, they called and told me to come in and bring my wife, Patti. So we were ushered into a small waiting room, and the doctor comes in and says:
“You&#8217;ve got a rare disease, IPF. It&#8217;s a lung disease with no cure and nothing to stop it. You should go home and get your affairs in order.&#8221;
<h2>Why are so few people, including doctors, aware of IPF? </h2>
Well, it&#8217;s a rare disease. I think my doctor had seen maybe one or two other people with it in his whole career. So when I got my diagnosis, there just weren&#8217;t many resources out there to find out more. And that&#8217;s one of the reasons we started PF Warriors. As I talk to other patients and groups, the same kinds of questions come up. That&#8217;s why it helps to hear from others who are going through the same thing. We now have 2,400 members worldwide and are located in 19 countries.
It took me a couple of years, but I got to this point that I wasn&#8217;t saying that I&#8217;m dying from this disease, but that I&#8217;m living with it.
<h2>Typically, the survival rate after diagnosis is two to three years. You got your diagnosis a decade ago. How have you been able to do so well for so long?</h2>
My advantage was that I was a competitive athlete attuned to my body. So not only was I in great shape but I got diagnosed perhaps earlier because I very quickly noticed the changes in my body.
But we don&#8217;t really know a lot about this disease. There&#8217;s still a lot of ignorance out there, and that&#8217;s why we need more research. I&#8217;ve also benefited by being one of the first people prescribed Esbriet® (pirfenidone). I started taking that when I was 75, and it can help slow the scarring of your lungs or progression of pulmonary fibrosis.
A few years ago I talked to a woman who was a fellow IPF patient named Peggy and I asked her about how long I had to live. She said something about hearing the diagnosis of dying in two or three years and she smiled and said:
&#8220;When you can find the expiration date that God tattooed on your bottom, believe it, but until you do, take each day as it comes and live it fully.&#8221;
<div id="attachment_28931" style="width: 890px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-28931" class="size-larger wp-image-28931" src="http://35.88.189.111/wp-content/uploads/2021/06/onemoretime-880x668.jpg" alt="" width="880" height="668" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/onemoretime-880x668.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2021/06/onemoretime-300x228.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/06/onemoretime-768x583.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/06/onemoretime.jpg 949w" sizes="auto, (max-width: 880px) 100vw, 880px" />Bill Vic</div>
<h2>What do you think is the biggest value of having an organization like PF Warriors? </h2>
It&#8217;s meeting people like Peggy in Florida with something to say, but it&#8217;s also crowdsourcing information with others, having a place where you can go for information or questions or support. You know, if you have a doctor who you talk to, that&#8217;s a certain channel for information but talking to someone like you who has it, it&#8217;s a different kind of conversation.
<h2>Recently you invited 23andMe&#8217;s John Matthews to speak to your group. He is the Senior Clinical Development Leader for Therapeutics at 23andMe. He is also a physician who trained in pulmonary medicine. Why did you ask him to speak, and what did he share with you? </h2>
John discussed 23andMe&#8217;s work in drug discovery and 23andMe&#8217;s ongoing effort to recruit 1,000 people for a <a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/">genetic study on IPF</a>. As a result, we&#8217;ve had other researchers and leading scientists in the field to talk. It&#8217;s a way for us to stay informed and keep ahead of the curve. John walked through the role genetics plays in disease and how 23andMe uses genetic information and other information to find potential drug targets. He also answered a lot of questions from our members who participated in the discussion.
<h2>What are your thoughts about the potential for finding new treatments?</h2>
I think studies like this, using genetics, are critical. But it isn&#8217;t easy to get enough people (with IPF) to participate. This is a similar problem with clinical trials, simply finding people willing to participate, but you need people if you want to see significant breakthroughs. I&#8217;m hoping we can help 23andMe with that. I&#8217;m optimistic that we will find a cure and treatment, maybe I won&#8217;t be around to see it, but I want to do whatever I can to help.
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Living with Idiopathic Pulmonary Fibrosis

Eczema is a chronic skin condition with itchy, dry, and/or discolored skin. Many people have it. Atopic dermatitis is the most common type of eczema; the two terms are sometimes used interchangeably.



Typically, it begins during infancy or childhood, but a person can develop it at any time. For some people, symptoms resolve before adulthood. For others, symptoms continue to come and go. When they occur, the symptoms are called “flares.”



<h2 class="wp-block-heading" id="h-large-numbers">Large Numbers</h2>



An eczema flare can be uncomfortable. People with eczema are more likely to get skin infections and have trouble sleeping. In addition, depression and anxiety are more common in people with this condition, especially those with more severe forms of this common skin disorder.



<figure class="wp-block-image aligncenter"><img loading="lazy" decoding="async" width="858" height="288" src="http://35.88.189.111/wp-content/uploads/2021/06/Eczema.jpg" alt="An illustration of symptoms of eczema on a person's hands" class="wp-image-28936" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/Eczema.jpg 858w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Eczema-300x101.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Eczema-768x258.jpg 768w" sizes="auto, (max-width: 858px) 100vw, 858px" /></figure>



It’s estimated that about 10 percent of the adult population in the United States has eczema.<a id="f1" href="#a1">[1]</a> Unfortunately, eczema is another example of disparities in healthcare. African American and Asian American children are more likely to develop more severe forms of eczema. Unfortunately, this may be due to delayed diagnosis because eczema can sometimes be missed in people with darker skin.



Although there is no cure for eczema, there are recommendations for reducing the frequency and severity of symptoms. The National Institutes of Health in the United States is also <a href="https://www.niaid.nih.gov/diseases-conditions/eczema-atopic-dermatitis?researchers=true">funding basic research</a> into the condition.



<h2 class="wp-block-heading" id="h-shared-genetics">Shared Genetics</h2>



Over the last decade, researchers—including scientists at 23andMe—have discovered some of the underlying genetics of the condition. Many people with eczema also have food allergies, asthma, or hay fever, for example. These are all allergic conditions, and they also <a href="https://blog.23andme.com/23andme-research/researchers-identify-new-genetic-associations-for-allergies-asthma-and-eczema/">share genetic associations</a>. But they each impact different parts of the body. By learning more about the shared genetics of these conditions, scientists are learning more about potential ways to treat them.



Beyond reading about 23andMe’s research on eczema (here are <a href="https://blog.23andme.com/tag/eczema/">some other posts</a> about the research), we also offer customers an opportunity to go deeper and learn about their chances of developing eczema.



This week, 23andMe released a new Eczema (Atopic Dermatitis) report powered by 23andMe research as part of our <a href="https://www.23andme.com/membership?ada=on">23andMe+</a> Membership. This is one of more than 10 reports and features added annually and available to our 23andMe+ members.‡



The eczema report is powered by a polygenic score. The score is calculated using more than 2,100 genetic variants and a customer’s ethnicity and sex to estimate the likelihood of having eczema. We use aggregated data from consented 23andMe research participants to calculate this estimate. The report does not diagnose eczema. If you are concerned about your likelihood of developing eczema, consult with a healthcare professional.



To learn more about 23andMe+ membership, go <a href="https://www.23andme.com/membership?fdpt=true">here</a>. Also, you can read about the most recent 23andMe eczema research collaboration <a href="https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1008725">here</a>.



<code> 
</code><a id="f1" href="#a1">[1]</a> Journal of Allergy and Clinical Immunology, ISSN: 0091-6749, Vol: 132, Issue: 5, Page: 1132-1138: 2013<a href=" https://www.jacionline.org/article/S0091-6749(13)01366-3/fulltext"> https://www.jacionline.org/article/S0091-6749(13)01366-3/fulltext</a>



‡10+ reports and features will be added annually from January to December.

New 23andMe+ Eczema Report

Researchers at 23andMe described what is believed to be the largest genomic study of rare diseases ever done in a groundbreaking <a href="https://www.medrxiv.org/content/10.1101/2021.06.09.21258643v1">new paper</a>. The study, published in the pre-print server MedRxiv, offers up a potential alternative method for gaining insight into these challenging-to-study conditions.
Using data from more than 1.6 million research participants, including 19,000 who reported a rare disease diagnosis, 23andMe scientists were able to study 33 different rare diseases that included people of European, African, Latino, East Asian, South Asian, Middle Eastern, and other ancestries. 
<h6>Some Firsts</h6>
The researchers were then able to run genome-wide association studies (GWAS) for each of these different rare diseases. They replicated 29 previously identified associations across different rare diseases. For three of these rare conditions — <a href="https://rarediseases.org/rare-diseases/duane-syndrome/">Duane retraction syndrome</a>, <a href="https://rarediseases.org/rare-diseases/acoustic-neuroma/">vestibular schwannoma</a>, and <a href="https://rarediseases.org/gard-rare-disease/primary-spontaneous-pneumothorax/">spontaneous pneumothorax</a> — the 23andMe study is the first GWAS ever done. The study identified new genetic associations for each. 
The conventional method for studying rare diseases entails sequencing patients with the condition or their family members. Then to use that data to focus on potentially causal genes, but the challenge is to first simply finding enough patients for a study and then paying for the much higher cost of sequencing them. 
<h6>A New Way </h6>
23andMe’s model is different in that the scale of the data allows researchers to quickly find sufficient numbers of cases, and those individuals, who have consented to participate in research, are already genotyped.
“This is exciting because it offers a viable alternative for studying rare diseases,” said Suyash Shringarpure, Ph.D., a 23andMe senior scientist, and statistical geneticist, who worked on the study. “This approach will enable us to discover new genetic associations across multiple populations much faster than could be done otherwise. And it’s complementary to a sequencing-based approach.”
&nbsp;

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="745" height="1024" src="https://blogcms.23andme.com/wp-content/uploads/2021/06/©PITER2017Suyash-Shringarpure2649-745x1024.jpg" alt="" class="wp-image-28941" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/©PITER2017Suyash-Shringarpure2649-745x1024.jpg 745w, https://blogcms.23andme.com/wp-content/uploads/2021/06/©PITER2017Suyash-Shringarpure2649-218x300.jpg 218w, https://blogcms.23andme.com/wp-content/uploads/2021/06/©PITER2017Suyash-Shringarpure2649-768x1056.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/06/©PITER2017Suyash-Shringarpure2649-640x880.jpg 640w, https://blogcms.23andme.com/wp-content/uploads/2021/06/©PITER2017Suyash-Shringarpure2649-858x1180.jpg 858w, https://blogcms.23andme.com/wp-content/uploads/2021/06/©PITER2017Suyash-Shringarpure2649-scaled.jpg 1862w" sizes="auto, (max-width: 745px) 100vw, 745px" /></figure>
 
It can often feel like being lost in the wilderness for patients living with a rare disease and their families. With so little information about the conditions, simply receiving a diagnosis can often take years. And once diagnosed, treatment options are often limited or even non-existent.
For the scientists trying to help, it can often feel like being asked to lead those patients out of the wilderness without a map.
<h6>Studying IPF and Systemic Sclerosis </h6>
The challenge of studying <a href="https://rarediseases.info.nih.gov/">rare diseases</a> is that they are rare. Simply finding enough people with a specific rare disease and then gathering enough data from those individuals to make meaningful insights is extremely difficult. In addition, there is the challenge of finding the money to pay for these studies. Rare diseases are defined as diseases that affect fewer than 200,000 people in the U.S. But there are more than 7,000 rare diseases that have been identified. Collectively they impact an estimated <a href="https://rarediseases.info.nih.gov/about-ordr/pages/31/frequently-asked-questions">25-30 million people </a>in the United States alone. 
23andMe is currently recruiting to study two rare diseases <a href="https://www.23andme.com/systemic-sclerosis-study/">systemic sclerosis</a>, a form of scleroderma, and <a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/">idiopathic pulmonary fibrosis (IPF)</a>, a chronic progressive lung disease. There are no cures for either condition, but the hope is that by gathering enough participants our scientists will be able to gather insights that could lead to new and effective treatments. 
<h6>Surprising Insights</h6>
Beyond working specifically on these two conditions, 23andMe’s unique research model allows scientists to more easily and quickly assemble data to study. This most recent paper illustrated how even looking broadly across all research participants, scientists were able to find enough individuals with certain rare conditions to garner insights. In some cases, these insights surprised researchers. 
For example, many rare diseases are Mendelian diseases, meaning that they are usually inherited and are typically caused by a mutation in a single gene. From this study, the researchers found that <a href="https://www.23andme.com/dna-health-ancestry" target="_blank" rel="noopener">common genetic variants</a> may also play a role in some of these conditions. Given the variety in the genetic architecture of rare diseases, it surprised the scientists working on this study that they found associations in rare causal genes by conducting genome-wide associations studies on 23andMe’s data. Typically genome-wide association studies are used to study common diseases — those that are affected not just by many different genes often with small impacts. These conditions are also influenced by environmental factors as well as gene-by-gene or gene-by-environment interactions. So it surprised researchers that they were able to look at a dataset of unrelated individuals — albeit a very large one — and find genetic associations. But they were able to do that for conditions such as Huntington’s disease and phenylketonuria, for example.
“The ability of a genome-wide association study to find associations at rare causal genes for monogenic diseases in an outbred population is to some extent unexpected,” Suyash said.

New Insights into the Use of Genetics to Study Rare Disease

 Introducing 23andMe’s 2021 Summer Interns, Part I

23andMe’s CEO and Co-founder Anne Wojcicki rang the opening bell on<a href="https://www.nasdaq.com/"> Nasdaq</a> Thursday morning, celebrating our first day as a publicly-traded company.
Anne took a moment during the virtual bell-ringing ceremony to thank customers, employees, and investors for their support. From the company’s founding in 2006, 23andMe (Nasdaq: ME)&nbsp; hasn’t wavered from its mission to help people access, understand and benefit from the human genome. Now more than ever, the time is ripe for 23andMe to change how people engage in their health, and to improve how new genetic research and drug discovery are done.
&nbsp;

 <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/2021/06/mo-06172112-1024x683.jpg" alt="" class="wp-image-28989" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/mo-06172112-1024x683.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/06/mo-06172112-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/06/mo-06172112-768x512.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/06/mo-06172112-880x587.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2021/06/mo-06172112-1180x787.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
Below is a version of the remarks Anne shared during the ceremony:
In 2005 I was working on Wall Street investing in health care when I had a call with a genetic researcher. I asked him about the state of genetics research and he said, “The excitement is palpable. Everything is going to change. We are going to understand the human genetic code.”
The sense of excitement that I felt in that conversation in 2005 remains with me today. We are unlocking one of the most exciting human mysteries. This simple code &#8211; A C G and T &#8211; has built this incredible world, all this diversity. It is truly amazing. 

I want to thank our customers &#8211; all 11M of you. It has been a journey! Together we have shown the world that you are capable of getting YOUR genetic information and learning about your <a href="https://www.23andme.com/dna-health-ancestry" target="_blank" rel="noopener">health and ancestry</a> &#8211; all without the supervision of a medical professional. You are far more capable of understanding science or taking charge of your health than the world believes. I want to thank you for believing in 23andMe and trusting us to unlock your DNA. We are committed to being your advocate and to always providing you transparency and choice with how your DNA is used. We will always make decisions based on what is best for you.
23andMe was founded in 2006 with a passion and love for genetics and a desire to empower individuals to be in control of their health. I was surrounded by incredible co-workers then and I am lucky to have been surrounded by incredible people ever since. As I think about how we have gotten to this day, I want to thank everyone who has ever worked at 23andMe. We have an incredible Gene Pool. It is a true honor to have so many talented people working on this dream and making today happen. I have my moments where I sometimes just sit back and marvel &#8211; you are all SO good. So thanks to all of you. 

I also want to thank my investors and my board. You have stuck with me through hard times and good times. You have provided incredible insights and support. This has not been easy but the work we are doing genuinely changes the world. Thank you for helping us get to this moment &#8211; this is just the beginning of our story.
Lastly, I want to conclude with where we are going. 23andMe is more than just a genetics company. We are an activist brand that is approaching health care and drug discovery with the individual at the center, as our partner. We are going to continue pioneering a consumer-centered personalized health care world. We are going to show that drug discovery can be more efficient when you start with a human genetic insight. Over the past 15 years our mission has never wavered: to help people access, understand and benefit from the human genome. In the next phase of the company, I want to show all of you that you are benefiting from the human genome by actually living a longer, healthier life.&nbsp; 

I want to end with a quote from one of my colleagues when I asked him why he has stayed at the company for over a decade. He responded with a quizzical look: “If we don’t do this work, no one will.”&nbsp;&nbsp; 

Thank you to everyone. What we do is important. You are changing the world.&nbsp;
&nbsp;&nbsp;
&nbsp;&nbsp;

Ringing in 23andMe’s Next Chapter

<figure class="wp-block-image alignright size-full is-resized"><img loading="lazy" decoding="async" src="http://35.88.189.111/wp-content/uploads/2021/06/FB_IMG_1623439632505.jpg" alt="" class="wp-image-28957" width="480" height="479" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/FB_IMG_1623439632505.jpg 640w, https://blogcms.23andme.com/wp-content/uploads/2021/06/FB_IMG_1623439632505-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2021/06/FB_IMG_1623439632505-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/06/FB_IMG_1623439632505-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2021/06/FB_IMG_1623439632505-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2021/06/FB_IMG_1623439632505-574x574.jpg 574w" sizes="auto, (max-width: 480px) 100vw, 480px" /><figcaption class="wp-element-caption">Stephanie McKenna</figcaption></figure>



Tom Chaney was the kind of cop who was married to his job. During his more than two decades in law enforcement, he&#8217;d grab shifts on holidays, fill in for other officers to work Christmas, or New Year&#8217;s Eve, or Thanksgiving.&nbsp;



&#8220;I was single and didn&#8217;t have any kids, so I figured I might as well,&#8221; Tom said. &#8220;Holidays were never really a big deal for me.&#8221;



Earlier this year, due in part to 23andMe and a call from a woman he&#8217;d never heard of before, Tom&#8217;s perceptions about kids, holidays, and Father&#8217;s Day in particular shifted, dramatically.&nbsp;



The call came from Stephanie McKenna, a 34-year-old operations assistant at the Museum of American Art in Arkansas. She stunned him with some news. Stephanie thought she might be his daughter.



Once they determined this wasn&#8217;t just a wild guess but an actual DNA match, the first thing Tom said to Stephanie was:



&#8220;I&#8217;m sorry, I didn&#8217;t know.&#8221;



<h6 class="wp-block-heading" id="h-decades-of-searching">Decades of Searching</h6>



For Stephanie, it was a good sign. She&#8217;d feared rejection.



When at 16, she&#8217;d reached out to her biological mother, it had been a harrowing experience. Her birth mom didn&#8217;t reject her; she simply wasn&#8217;t interested in establishing a relationship. But that disappointment and hurt didn&#8217;t prevent Stephanie from looking for her birth father.



Stephanie was an adoptee with loving and supportive parents, but she still wanted to know more about her origins. It took receiving 23andMe as a Christmas gift — that Stephanie got from her mom and dad — to connect her to Tom, or more precisely to Tom&#8217;s dad, Tom Sr. Both Stephanie and Tom Sr. had opted into <a href="https://www.23andme.com/dna-ancestry" target="_blank" rel="noopener">DNA Relatives</a>. After making that connection, she then quickly connected to Tom himself.



<figure class="wp-block-image alignright size-large is-resized"><img loading="lazy" decoding="async" src="http://35.88.189.111/wp-content/uploads/2021/06/IMG_20210314_152309065-1024x768.jpg" alt="" class="wp-image-28947" width="512" height="384" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/IMG_20210314_152309065-1024x768.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/06/IMG_20210314_152309065-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/06/IMG_20210314_152309065-768x576.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/06/IMG_20210314_152309065-880x660.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2021/06/IMG_20210314_152309065-1180x885.jpg 1180w" sizes="auto, (max-width: 512px) 100vw, 512px" /><figcaption class="wp-element-caption"> Tom Chaney early in his career as a police officer. </figcaption></figure>



&#8220;It was a meeting 34 years in the making,&#8221; she said.



First, through a series of phone calls and then video calls over Zoom and texts, the two got to know each other.



Tom didn&#8217;t know he&#8217;d had a child. He and Stephanie&#8217;s birth mom dated for a few weeks while they both were stationed in Alaska. Tom was in the Marines, and Stephanie&#8217;s birth mom was in the Navy. The relationship was brief, and then Tom shipped off to another billet in Hawaii. At the same time, Stephanie&#8217;s birth mom wound up on a base in Virginia. Tom never even knew she&#8217;d been the pregnant.&nbsp;



<h6 class="wp-block-heading" id="h-a-first-meeting">A First Meeting</h6>



Finding out he now had a daughter pushed Tom to learn more about Stephanie and do his best to establish a relationship. After all the calls, texts, and Zoom chats, Stephanie&nbsp; came to Arizona in early June to visit him. The first time Tom greeted her at the airport he was wearing his Marine Corps t-shirt and holding a sign that read:&nbsp;&nbsp;



&#8220;Stephanie, here is your father.&#8221;



A flood of emotion, tears, and laughter came out of them as they embraced for the first time.&nbsp;



When he and his wife, Krissy, brought Stephanie home, there was a sign that read:&nbsp;



&#8220;It&#8217;s a girl.&#8221; 



<figure class="wp-block-embed is-type-video is-provider-youtube wp-block-embed-youtube wp-embed-aspect-16-9 wp-has-aspect-ratio"><div class="wp-block-embed__wrapper">
<iframe loading="lazy" title="Tom and Stephanie" width="500" height="281" src="https://www.youtube.com/embed/3_DIyb5Mu74?feature=oembed" frameborder="0" allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share" referrerpolicy="strict-origin-when-cross-origin" allowfullscreen></iframe>
</div></figure>



<h6 class="wp-block-heading" id="h-getting-to-know-each-other">Getting to Know Each Other</h6>



What followed was a visit to get to know each other. Tom introduced Stephanie to his family and friends. The two shared old photos of themselves. They did everything they could to go from being strangers to being a daughter and a father.&nbsp;



&#8220;It&#8217;s uncanny how many things we share in common,&#8221; Stephanie said.



From mannerisms to personalities to even the kinds of things they each find humorous.&nbsp;



&#8220;Even the way we talk, there&#8217;s a similar cadence and similar facial expressions,&#8221; she said.&nbsp;



Meeting him helped explain some of her own characteristics. Like her, Tom was an extrovert, someone who seemed to thrive with many people around him. And there were little things that were similar too, like Tom&#8217;s involvement with a motorcycle club for retired police officers. Stephanie is involved in a horse riding club on the side.&nbsp;&nbsp;



Ironically perhaps, is that the two also shared something else in common. Neither Tom nor Stephanie wanted to have kids. Stephanie said it&#8217;s just not something she&#8217;s focused on right now.



<figure class="wp-block-image alignright size-full is-resized"><img loading="lazy" decoding="async" src="http://35.88.189.111/wp-content/uploads/2021/06/rsSNs.jpeg" alt="" class="wp-image-28948" width="512" height="384" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/rsSNs.jpeg 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/06/rsSNs-300x225.jpeg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/06/rsSNs-768x576.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/06/rsSNs-880x660.jpeg 880w" sizes="auto, (max-width: 512px) 100vw, 512px" /><figcaption class="wp-element-caption">Stephanie visiting Tom at his home in Arizona.</figcaption></figure>



<h6 class="wp-block-heading" id="h-a-bigger-family">A Bigger Family</h6>



For Tom, it was his focus on his work. Something he&#8217;d picked up from his father. Like Tom, his dad had been a Marine first, and then a career police officer, and Tom followed in his dad&#8217;s footsteps in all ways but one. The one exception was that he never wanted a family.



&#8220;I didn&#8217;t want to put a kid through that,&#8221; he said.



That&#8217;s why he never had kids. He was fine with the decision, or at least he thought he was.&nbsp;



But in sharing the time with Stephanie over a few days in early June and looking at old photos of when she was a little girl, Tom felt a pang of regret. It&#8217;s hard for him to even talk about without getting emotional about everything that he missed out on. On the eve of her visit, he couldn&#8217;t sleep. When they looked at old photos of her growing up, he felt that tug of emotion even more.



&#8220;It&#8217;s all those things that I missed, that I wasn&#8217;t there for and couldn&#8217;t share with her,&#8221; he said. &#8220;That hurts inside, but it&#8217;s in the past, and now I want to make the most of it.&#8221;



So does Stephanie. He&#8217;s coming to visit her and her family in a few months.



&#8220;They (her parents) are so awesome. They want to share this with me and see it more like bringing someone else into the family,&#8221; she said.



Father&#8217;s Day will take on a new meaning this year, but more importantly, it&#8217;s part of this new chapter in Tom’s life.



&#8220;I&#8217;ve got 34 years to catch up on,&#8221; he said.

A Father and Daughter Meet for the First Time

23andMe joined over 100 other companies, to stand up for equity and against state legislation that discriminates against the LGBTQ+ community. <a href="https://www.hrc.org/resources/business-statement-on-anti-lgbtq-state-legislation">The Human Rights Campaign</a> released a statement condemning this harmful state legislation for companies to sign. <a href="https://www.aclu.org/legislation-affecting-lgbt-rights-across-country">The legislation</a> efforts in question bar transgender people from participating in sports, having their gender identity reflected on IDs, and receiving necessary healthcare. <a href="https://www.aclu.org/legislation-affecting-lgbt-rights-across-country">Other bills</a> limit LGBTQ+ couples from starting a family via adoption or foster care.
“Pride month is a time to celebrate the love that’s in all our DNA, regardless of someone’s sexual orientation or gender identity. But even though we are all 99.5 percent genetically identical, we still aren’t treated 100 percent equally,” wrote Jey McCreight, PhD, Science Communication Sr. Program Manager at 23andMe.

 <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/2021/06/equality-image-1024x536.png" alt="" class="wp-image-28959" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/equality-image-1024x536.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/06/equality-image-300x157.png 300w, https://blogcms.23andme.com/wp-content/uploads/2021/06/equality-image-768x402.png 768w, https://blogcms.23andme.com/wp-content/uploads/2021/06/equality-image-880x461.png 880w, https://blogcms.23andme.com/wp-content/uploads/2021/06/equality-image-1180x618.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2021/06/equality-image.png 1600w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
23andMe has set specific objectives related to diversity, equity, and inclusion focused on building a more inclusive and accessible product for everyone, including the LGBTQ+ community. Customer reports separate biological sex from gender identity. In addition, the research team is examining how genetics can impact gender identity and <a href="https://blog.23andme.com/23andme-research/sexual-behavior-not-meaningfully-predicted-by-genetics-new-study-finds/">same-sex sexual behavior</a>. Customer surveys always use inclusive language. This strong support of the LGBTQ+ community is not only drawn from the company value of “we’re in this together,” but the value of trusting science.
“People who fear or distrust trans people often use ‘biology’ as a justification for attacking this community. But the reality is that the biology of sex and gender is more complicated than a simple binary,” explained Dr. McCreight. “Regardless of what science says, everyone should still treat trans people with respect because it’s just the right thing to do. But if you want to claim you ‘trust the science’ in order to attack trans people, then sorry – the science says that trans rights are human rights.”
As a company committed to uplifting LGBTQ+<a href="https://www.23andme.com/diversity-equity-inclusion"> employees</a> and customers and leading with science, 23andMe signed the Human Rights Campaign’s business statement this June in opposition to these unjust anti-LGBTQ+ state laws.
The statement reads: 
The companies joining this statement do business, create jobs, and serve customers throughout the United States. Our businesses strongly embrace diversity and inclusion because we want everyone who works for us or does business with us to feel included and welcomed as their true, authentic selves. Fairness, equal treatment, and opportunity are central to our corporate values because we care about our employees and the customers we serve. What’s more, these values also matter to our bottom lines. Inclusive business practices lead to more productive and engaged employees, increased customer satisfaction; and, ultimately, improved competitiveness and financial performance.
We are deeply concerned by the bills being introduced in state houses across the country that single out LGBTQ individuals &#8211; many specifically targeting transgender youth &#8211; for exclusion or differential treatment. Laws that would affect access to medical care for transgender people, parental rights, social and family services, student sports, or access to public facilities such as restrooms, unnecessarily and uncharitably single out already marginalized groups for additional disadvantage. They seek to put the authority of state government behind discrimination and promote mistreatment of a targeted LBGTQ population.
These bills would harm our team members and their families, stripping them of opportunities and making them feel unwelcome and at risk in their own communities. As such, it can be exceedingly difficult for us to recruit the most qualified candidates for jobs in states that pursue such laws, and these measures can place substantial burdens on the families of our employees who already reside in these states. Legislation promoting discrimination directly affects our businesses, whether or not it occurs in the workplace.
As we make complex decisions about where to invest and grow, these issues can influence our decisions. America’s business community has consistently communicated to lawmakers at every level that such laws have a negative effect on our employees, our customers, our competitiveness, and state and national economies.
As business leaders dedicated to equal treatment, respect, and opportunity for all &#8211; as well as to improving the financial and investment climate across the country &#8211; we call for public leaders to abandon or oppose efforts to enact this type of discriminatory legislation and ensure fairness for all Americans.
To learn more about these proposed bills and take a stand alongside 23andMe, visit the <a href="https://www.hrc.org/campaigns/the-state-legislative-attack-on-lgbtq-people">Human Rights Campaign site.</a>

Latest Posts — Page 48