But you might be even more special than any of us suspected, and we want to learn a little more about that.



23andMe’s unique research model allows our scientists to leverage data from millions of customers who consent to participate in our research. This gives us data at unprecedented scale to reveal more quickly and efficiently not just the causes for illness but also their potential treatments. 



That’s the power of “big data.”



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="576" src="http://35.88.189.111/wp-content/uploads/2017/12/Data-Viz-1024x576.jpg" alt="" class="wp-image-25916" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/12/Data-Viz-1024x576.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2017/12/Data-Viz-300x169.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2017/12/Data-Viz-768x432.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2017/12/Data-Viz-880x495.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2017/12/Data-Viz-1180x663.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2017/12/Data-Viz.jpg 1366w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



But there’s also power in small data — finding individuals whose genetics makes them especially interesting. 



So 23andMe researchers are undertaking a pilot project that will include several dozen customers who’ve consented to participate in research and have something unique in their genome that could help our scientists to better understand metabolic conditions such as heart disease or type 2 diabetes. These customers have agreed to be re-contacted by 23andMe researchers.



Along with looking at genetics, health history and the conditions research participants report that they currently have, we’ll also be adding basic blood panel data from these individuals — such as lipid levels and glucose. For this data we’ll be enlisting the help of<a href="https://ixlayer.com/"> ixlayer</a>, a leading remote diagnostic testing platform. <a href="https://ixlayer.com/">ixlayer</a> will be coordinating both the at-home blood draw experience and the lab work at a national scale and then 23andMe will be incorporating that data into our analysis.



So, what’s so interesting about adding this kind of data to the data we already have, and why are we focused on just a few dozen individuals?



<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;">Research Opportunities Based on Your Unreported Genetics

The participants in this study represent a group of our research participants who’ve gone through an additional layer of consent.
For this research our research participants have opted-in to being contacted by our researchers about research opportunities based on genetic information not included in their 23andMe reports.
These research opportunities might be related to specific conditions for which we currently do not yet have a report. Those who agree to participate and who are contacted for specific studies may only learn about the condition being studied but not the specific variant.
Like all our research, participants must opt-in to be included, and those who are currently participating can change their minds and then opt-out at any time.
Interested in 23andMe Research? 
Find out more <a href="https://research.23andme.com/">here</a>.
</div>



We’ll explain.



Studying individuals who maybe would be expected to have a condition but do not because of something in their genome, or other individuals who are healthy but have a rare genetic variant that turns off the function of a gene, could tell us a lot about certain diseases and potential ways to treat them.



People who have a rare genetic variant that turns off a gene, known as a “loss of function” variant, or others who have a variant that heightens the expression of a gene or gives it a new activity, known as a “gain of function” variant, offer researchers the potential to find much deeper insight. 



In cases where healthy individuals have one of these rare variants in a gene that is also associated with a condition — say high or low cholesterol — it indicates for those studying these conditions whether boosting or diminishing the function of that gene to treat an illness may be safe to do. Individuals with rare genotypes can offer insights not just into a specific disease, they can also give insight into whether a specific drug is safe or not.



There are already real-world examples of how this works. The most cited is that of extremely rare individuals who have dual “loss of function” variants in the gene PCSK9, which is involved with the regulation of the amount of cholesterol in the bloodstream. Individuals who had loss of function variants in both copies of that gene were shown to have very low LDL levels, or so called “bad” cholesterol, but importantly, were otherwise healthy despite having no PCSK9 function. Medications were developed that inhibited PCSK9, lowering LDL levels and in turn substantially reducing the risk for a cardiovascular event.



There are other examples of individuals who had something in their genome that made them resistant to certain diseases like HIV, Alzheimer’s disease or diabetes. A deeper understanding about what in their genome contributes to that could help those studying these conditions and looking for new treatments.



That’s the motivation with this small pilot study. The first step is finding these special individuals, and then it’s gathering data for a deeper understanding of what makes them unique. Ultimately, the hope is that this will lead to potential treatments and cures.



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About ixlayer



<a href="https://ixlayer.com/">ixlayer</a> is redefining next generation patient experiences for lab testing and better health outcomes. They make it easy for people to test outside of clinical settings and take proactive steps towards better health. ixlayer collaborates with a wide variety of organizations to create configurable solutions for their patients and research participants. Their platform enables patient-friendly digital experiences, 1000s of testing options and seamless integration with their customers and lab partners.&nbsp;



<hr class="wp-block-separator has-alpha-channel-opacity"/>

23andMe Blog

23andMe Blog Team

We Know You’re Special

Researchers at the University of Oxford completed the largest study to date looking at the genetic basis for endometriosis.



The study, published in the journal <a href="https://www.nature.com/articles/s41588-023-01323-z" target="_blank" rel="noreferrer noopener">Nature Genetics</a>, found 42 genomic regions associated with endometriosis and revealed a shared genetic basis between endometriosis and pain traits, such as migraine, chronic and back pains. 



<h6 class="wp-block-heading" id="h-pain-sensitivity">Pain Sensitivity</h6>



This could contribute to a heightened sensitivity of the nervous system making endometriosis patients more prone to pain. Women suffering from endometriosis are traditionally given hormone treatments, but these insights might draw attention to treating pain.



It&#8217;s estimated that one in ten women suffer from endometriosis, which is characterized by uterine tissue, called endometrium, developing outside of the uterus. This tissue often accumulates in the stomach, ovaries, fallopian tubes and ligaments around the reproductive organs. Along with the excruciating pain, this can result in scarring and infertility in up to half of the women who have the condition.



<h6 class="wp-block-heading">a Need for Better Diagnosis</h6>



For many women even getting a diagnosis of endometriosis can be a long and grueling process. 



A<a href="http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(17)31344-2/fulltext"> survey</a> of women with the condition published in the journal Lancet found that their top priority is finding a better way to diagnose the condition. Also on the list were better treatments for managing the symptoms of the disease, particularly the pain.



<h6 class="wp-block-heading">23andMe Data</h6>



This new study by researchers from Oxford included data from more than two dozen academic and industry research teams across the world, including 23andMe. 



In all, the study included data from about 760,000 women, about 60,000 of whom were diagnosed with endometriosis. Using data from both women with endometriosis and those without it helps researchers discern the biological basis for the condition. It also helps in the study of the onset and progression of the condition. About half of the data used in this study came from 23andMe customers who consented to participate in research. 



Using different datasets along with the details on surgical findings and pain experiences, improve what researchers could do.



“(It) allowed us to generate a treasure trove of new information about genetically driven endometriosis subtypes and pain experience,” <a href="https://www.wrh.ox.ac.uk/news/multiple-debilitating-pains-2013-new-global-study-shows-the-experience-of-endometriosis-is-rooted-in-a-person2019s-genetics" target="_blank" rel="noreferrer noopener">said Dr. Nilufer Rahmioglu,</a> Senior Research Scientist at the Wellcome Centre for Human Genetics, University of Oxford, and first author of the study.



<h6 class="wp-block-heading">Find out More</h6>



You can read the full study <a href="https://www.nature.com/articles/s41588-023-01323-z" target="_blank" rel="noreferrer noopener">here</a>.



Or read more coverage on the blog about endometriosis <a href="https://blog.23andme.com/articles/endometriosis">here</a>.

Largest Genetic Study to Date Links Endometriosis with Chronic Pain

Our immune systems fight off bacteria, viruses, and infections in an almost daily battle to keep us healthy, but if you have an autoimmune disease, that natural defense system turns on itself, attacking healthy cells and tissue by mistake.



<figure class="wp-block-image alignright size-full is-resized is-style-default"><img loading="lazy" decoding="async" src="http://35.88.189.111/wp-content/uploads/2023/03/pemphigus-V-image.png" alt="" class="wp-image-31265" width="362" height="358" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/03/pemphigus-V-image.png 530w, https://blogcms.23andme.com/wp-content/uploads/2023/03/pemphigus-V-image-300x297.png 300w" sizes="auto, (max-width: 362px) 100vw, 362px" /></figure>



<h6 class="wp-block-heading" id="h-autoimmune-awareness-month">Autoimmune Awareness Month</h6>



This month is Autoimmune Awareness Month, and 23andMe wants to shine a light on autoimmune diseases generally, which affect an estimated<a href="https://www.niehs.nih.gov/health/topics/conditions/autoimmune/index.cfm#footnote1"> 24 million people</a> in the United States alone. 



There are more than 80 known autoimmune diseases. Some of these are well known, such as<a href="https://www.23andme.com/lupus/"> lupus</a>, <a href="https://blog.23andme.com/articles/snpwatch-two-studies-connect-more-immune-system-genes-to-rheumatoid-arthritis">rheumatoid arthritis</a>, <a href="https://www.23andme.com/ibd/">Crohn&#8217;s disease, and ulcerative colitis,</a> but others are rare and difficult to diagnose. There is a lot we do not know about these conditions and their causes, although genetics appears to play a role.



For those with an autoimmune disorder, particularly one that is rare, it can be jarring to learn that your body is at war with itself.



“It was devastating,” said Doris, a minister, mother, grandmother, and great grandmother in Louisiana who, in 2009, was diagnosed with the rare autoimmune disorder,<a href="https://www.pemphigus.org/pemphigus/" target="_blank" rel="noreferrer noopener"> pemphigus</a>.



<h6 class="wp-block-heading">Doris&#8217;s Story</h6>



<a href="https://www.23andme.com/rare-disease-research-study/pemphigus-vulgaris/" target="_blank" rel="noreferrer noopener">Pemphigus vulgaris</a> is one of a group of autoimmune conditions that can be life-threatening without treatment. It is characterized by blisters and lesions on the mucous membranes and skin. It is also one of a dozen rare diseases 23andMe is researching as part of its<a href="https://www.23andme.com/rare-disease-research-study/" target="_blank" rel="noreferrer noopener"> Rare Disease Research Study</a>.



For Doris, she thought her diagnosis was a death sentence. But 13 years later, she has a different perspective.



“I did not allow the disability to stop me from enjoying life and moving forward in life,” Doris said.



<h6 class="wp-block-heading">Finding Support</h6>



In the ensuing years, Doris retired from her job with a mortgage company, got her bachelor’s degree, then a master’s, and she will soon receive a doctorate. She plans to become a college professor and is taking classes in nonprofit management. Her diagnosis galvanized her, not just to pursue her dreams but also to better understand the condition and seek support from the<a href="https://www.pemphigus.org/pemphigus/" target="_blank" rel="noreferrer noopener"> International Pemphigus &amp; Pemphigoid Foundation</a> (IPPF).



But that journey wasn’t easy. While Doris’s story is unique, many of the things she has had to navigate will be familiar to others with an autoimmune condition or a rare disease. Often the most difficult step in the process is simply getting a proper diagnosis.



<figure class="wp-block-image alignright size-full is-resized"><img loading="lazy" decoding="async" src="http://35.88.189.111/wp-content/uploads/2023/03/Doris.jpg" alt="" class="wp-image-31260" width="442" height="278" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/03/Doris.jpg 621w, https://blogcms.23andme.com/wp-content/uploads/2023/03/Doris-300x189.jpg 300w" sizes="auto, (max-width: 442px) 100vw, 442px" /></figure>



<h6 class="wp-block-heading">After The Diagnosis</h6>



In Doris’s case that came after an unrelated surgery. While she was recovering, painful sores emerged in her mouth. At first this was thought to be related to the insertion of a breathing tube during surgery, but the sores didn’t go away for more than a week.



That’s when the ordeal of trying to figure out what it was began. The sores soon showed up elsewhere on her body, including in her eyes. Over the course of visiting various doctors, she was told she had thrush (a fungus) and HIV, among other things. She couldn’t eat and was losing weight rapidly when about a year after her symptoms first emerged, she was finally seen by an infectious disease doctor.



“I’ve been in practice for over 30+ years and I’ve only seen this twice,” Doris’s doctor said. “This is pemphigus vulgaris.”&nbsp;



<h6 class="wp-block-heading">A New Life Journey</h6>



She had a biopsy done confirming the diagnosis. But, as with many people who have a rare disease or an autoimmune disease, the diagnosis also raised new questions and a hunt for treatment that would work for her.



“It was the beginning of a new life journey,” Doris said.



She was prescribed steroids, as well as different immunosuppressant drugs. Those drugs are meant for preventing a person from rejecting an organ transplant but have been used to treat other autoimmune conditions like rheumatoid arthritis. She was given an anti-inflammatory drug and antibiotic used for treating skin lesions. She was given an intravenous medication meant to boost her antibodies. Doris also received monoclonal antibodies, and other drugs that are typically used to treat cancer.



“The drugs changed my life,” she said.



<h6 class="wp-block-heading">Remaining Positive</h6>



Some of the treatments worked and some didn’t. Doris&#8217;s side effects from the treatments included a heart attack, a stroke, excessive weight gain, mood changes, and glaucoma.



Through it all Doris has remained positive. She’s become a member of the IPPF foundation. She learned more about the condition, treatments, and found a community for support.



“If you are diagnosed with a rare disease, realize that it is not a death sentence but a different road to travel on the road that we call LIFE,” said Doris, who also volunteers doing ministry in the prison system. “Enjoy every moment of your life. Live each day as if it were your last, it just may be. Put your stripes on and always ‘Speak up and Speak out’ to let the world know that you are still here to make a difference.”



Learn more about 23andMe&#8217;s Rare Disease Research Study <a href="https://www.23andme.com/rare-disease-research-study/" target="_blank" rel="noreferrer noopener">here</a>.



Learn more about Pemphigus vulgaris <a href="https://www.23andme.com/rare-disease-research-study/pemphigus-vulgaris/" target="_blank" rel="noreferrer noopener">here</a>.

Autoimmune Awareness and a Rare Disease

For anyone with a rare disease, the winding journey from symptoms to diagnosis to treatment is often long and isolating.&nbsp;



And yet the singularity of that lonely experience — the often-frustrating search for answers and treatment, if there is even treatment available — is surprisingly common for those with a rare disease. On average, it takes five years or more to reach a diagnosis, according to the <a href="https://rarediseases.org/new-patient-journey-infographic-gives-a-glimpse-into-the-diagnostic-odyssey/">National Organization for Rare Diseases.</a>&nbsp;



<h6 class="wp-block-heading" id="h-essential-thrombocythemia">Essential Thrombocythemia</h6>



As part of Rare Disease Day, 23andMe wanted to shine a light on Dima, a software test engineer with essential thrombocythemia, a rare blood disorder that includes symptoms like difficulty breathing, weakness, fatigue, and blood clots that can lead to strokes &#8211; and is one of the rare diseases 23andMe is studying. His experience echoes that of many people living with one of the more than 7,000 known rare diseases.



<figure class="wp-block-image aligncenter size-large"><img loading="lazy" decoding="async" width="853" height="1024" src="http://35.88.189.111/wp-content/uploads/2023/01/Dima-Image-853x1024.jpeg" alt="" class="wp-image-31082" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/01/Dima-Image-853x1024.jpeg 853w, https://blogcms.23andme.com/wp-content/uploads/2023/01/Dima-Image-250x300.jpeg 250w, https://blogcms.23andme.com/wp-content/uploads/2023/01/Dima-Image-768x922.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2023/01/Dima-Image-733x880.jpeg 733w, https://blogcms.23andme.com/wp-content/uploads/2023/01/Dima-Image-983x1180.jpeg 983w" sizes="auto, (max-width: 853px) 100vw, 853px" /></figure>



A rare disease, by definition, affects 200,000 or fewer people, but because there are so many of these conditions, many millions of people like Dima live with a rare disease. It&#8217;s estimated that between <a href="https://rarediseases.info.nih.gov/about/">one-in-ten</a> to <a href="https://rarediseases.org/understanding-rare-disease/rare-disease-facts-and-statistics/">one-in-13</a> people in the United States have a rare disease. In other words, millions of people, each struggling to sort out how to navigate a journey with few clear markers of where to go next. These are individuals who are often faced with unexplained symptoms that neither they nor their doctor can explain.&nbsp;



&#8220;It’s hard to say when my symptoms began,” said Dima.



<h6 class="wp-block-heading">Waiting for a Diagnosis</h6>



For more than six years, Dima had consistently seen elevated platelet levels in his blood tests. On top of that he had other symptoms — nosebleeds, numbness, fatigue, and flashes in his eyes. But his doctor failed to recognize the abnormalities in his blood or to connect them to his other symptoms.



Dima wasn’t diagnosed until 2021 when he was rushed to an emergency room.



“After multiple MRIs, CTs and ultrasounds it was confirmed that I had a transient ischemic attack (stroke) caused by a blood clot,” Dima said. “I underwent an emergency surgery where a blood clot was removed from my carotid artery.”



After several tests, including a genetic test, as well as a bone marrow biopsy, he was diagnosed with essential thrombocythemia, a rare type of myeloproliferative neoplasms (MPN) in which the bone marrow produces too many platelets.&nbsp;



“I’d never heard (essential thrombocythemia) or MPN before I was diagnosed,” he said.



<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="381" height="154" src="http://35.88.189.111/wp-content/uploads/2023/02/Green-DNA-thread.png" alt="" class="wp-image-31177" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/02/Green-DNA-thread.png 381w, https://blogcms.23andme.com/wp-content/uploads/2023/02/Green-DNA-thread-300x121.png 300w" sizes="auto, (max-width: 381px) 100vw, 381px" /></figure>



<h6 class="wp-block-heading">Finding Support</h6>



Dima’s experience is not so different from a lot of people with a rare disease. It often takes years for a diagnosis. Even when a proper diagnosis is made, it might be difficult to find effective treatments.&nbsp;&nbsp;



In Dima’s case he is being treated with a drug called an antiviral interferon drug, that has a host of serious side effects, but appears to be helping. He’s also joined an advocacy group called <a href="https://www.mpnvoice.org.uk/about-mpns/questions/essential-thrombocythaemia-et/">MPN Voice</a>. He knows he is lucky, there are&nbsp; approved treatments for fewer than 5 percent of the known rare diseases. And the fact that they are rare also makes them that much more challenging to study.&nbsp;



Finding enough people with one of these conditions to participate in research is often difficult, and this can be particularly difficult among people of non-European descent who are already underrepresented in research. 



<h6 class="wp-block-heading">Researching Rare Diseases</h6>



23andMe has an ongoing effort to improve the diversity of our research more broadly and will regularly contact customers in underrepresented groups through our rare disease research. An example of that is our <a href="https://blog.23andme.com/articles/sarcoidosis-representation">Sarcoidosis Research Study</a>, a rare condition that impacts the Black community at double the rate of people of European descent.



While each of the rare diseases 23andMe is studying is different, our research model combines genetic and phenotypic data from millions of people who&#8217;ve consented to participate in research, offering unique opportunities to study these conditions. It&#8217;s not just that understanding the genomics of rare diseases can help scientists understand the underlying causes; it&#8217;s that the scale of 23andMe&#8217;s data and the fact that people can participate online and from home allows our researchers to quickly gather insights from large numbers of people with a rare disease. In 2021, researchers from 23andMe presented some of their <a href="https://blog.23andme.com/articles/rare-disease-research">early findings</a> that helped to illustrate our ability to leverage that data to gain insights quickly.&nbsp;



<h6 class="wp-block-heading">Rare Disease Study</h6>



In 2022 23andMe launched a rare disease study, the Rare Disease Research Study, which has grown to include a <a href="https://blog.23andme.com/articles/rare-disease-expanded-study">dozen rare diseases</a>. This work offers an incredible opportunity to speed progress toward treatment. Among the diseases 23andMe is studying is <a href="https://www.23andme.com/rare-disease-research-study/essential-thrombocythemia/">essential thrombocythemia</a>, the condition affecting Dima&#8217;s life.&nbsp;



In just four months since launching our Rare Disease Study, 23andMe has already recruited more than 1,500 individuals across all the rare diseases we are researching. That’s incredibly fast for rare disease research, and 23andMe already has some of the largest cohorts for some of these very rare conditions. 23andMe’s study of <a href="https://www.23andme.com/rare-disease-research-study/essential-thrombocythemia/?utm_source=google&amp;utm_medium=search_generic&amp;utm_campaign=US_ET_sales_google-search&amp;utm_term=thrombocythemia">essential thrombocythemia</a>, the condition Dima is living with, is expected to reach its goal of recruiting 1,000 participants by the fall of 2023.



The work has already been noticed, especially among advocates for those living with rare diseases who are pushing to raise awareness and spur new research.



<hr class="wp-block-separator has-alpha-channel-opacity"/>



<h6 class="wp-block-heading">Dima Answers Some Questions about Living with a Rare Disease</h6>



<h6 class="wp-block-heading">When were you diagnosed, and how long did it take from when you had your first symptoms to get a diagnosis?</h6>



I was diagnosed in 2021 at the age of 31. I had symptoms of a stroke and was taken to the emergency department. After multiple MRIs, CTs and ultrasounds it was confirmed that I had a transient ischemic attack (stroke) caused by a blood clot. I underwent an emergency surgery where a blood clot was removed from my carotid artery. After doing a genetic test for JAK2 V617F mutation (which returned positive) and two bone marrow biopsies, I was officially diagnosed with essential thrombocythemia &#8211; a rare type of Myeloproliferative neoplasms (MPNs) in which the bone marrow produces too many platelets.



<h6 class="wp-block-heading">Can you give some sense of what it is like to have something wrong — symptoms — but not know and not having doctors know what it is that is wrong with you?</h6>



In my case it was devastating. I had a history of consistently elevated platelets since 2016. My (doctor) failed to recognize the issue, check for underlying conditions and diagnose me. He never referred me to a hematologist. After each routine blood test I was told that my results were normal, even though I saw elevated platelets in results. All complaints about my symptoms were neglected.



I believe the blood clot forming could have been prevented and the surgery could have been avoided if I was diagnosed and started treatment earlier.



I also blame myself for not paying more attention to my blood test results and for blindly trusting doctors. Lesson learned the hard way. Now I do my extensive research before going to doctors for any reason. I do my best to educate myself as much as possible and verify every recommendation I get from doctors.



<h6 class="wp-block-heading">When you heard the diagnosis, was it something that you were familiar with?</h6>



I’d never heard about essential thrombocythemia or myeloproliferative neoplasms before I was diagnosed.



<h6 class="wp-block-heading">Do you stay up on research?</h6>



When I was first diagnosed, I spent a significant amount of time going through available research and collecting information about treatment options. Today I’m trying to stay on top of new research. In addition to that I receive weekly subscription email from the MPN Voice community on<a href="https://healthunlocked.com/"> https://healthunlocked.com</a>. This community is very active. Multiple people all around the world share their stories, treatment options and side effects, research and studies, news and more importantly support to each other.



<h6 class="wp-block-heading">Are you involved in any clinical trials?</h6>



At this moment I’m not involved in any clinical trials however if opportunity arises, I will be open to it.



<h6 class="wp-block-heading">What do you believe people should know about rare diseases in general and how they might be able to help?</h6>



Of course it would be helpful and beneficial for people to be aware of rare diseases. However, there are so many rare diseases that the general population has never heard about them. I learned about the existence of MPNs only after I was diagnosed with it. People are not trained to analyze symptoms. They might not recognize that their symptoms are a result of some underlying condition and simply brush it off.&nbsp;



That is why we go to doctors when something bothers us. And that’s why I want to have more trust in doctors’ ability to listen to patients, recognize and diagnose them correctly and timely.

Raising Awareness of Rare Disease

February is a time for celebrating Black history. While we&#8217;re doing that here at 23andMe, we&#8217;re also reflecting on our efforts to address the disparities in biomedical and genetic research for people of African ancestry.



We want to share some of what we&#8217;ve been doing over the last year or so — around sickle cell disease and for a rare condition called sarcoidosis, both of which impact the Black community at much higher rates than other populations. But first, we want to give you some context and history.



Representation is important because, without it, the benefits from research fail to help all people, further compounding health disparities.



In addition to it being the right thing to do, improving representation also makes for good science. For example, research shows that <a href="https://www.nature.com/articles/s41586-019-1310-4">genetic studies that include diverse, multi-ethnic participants</a> have a higher chance of discovering significant genetic variants associated with diseases. Researchers would have missed those associations if the studies had only focused on one homogenous group.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="717" src="http://35.88.189.111/wp-content/uploads/2022/09/GettyImages-1251922051-1024x717.jpg" alt="" class="wp-image-30161" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/09/GettyImages-1251922051-1024x717.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/09/GettyImages-1251922051-300x210.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2022/09/GettyImages-1251922051-768x538.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/09/GettyImages-1251922051-880x616.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2022/09/GettyImages-1251922051-1180x826.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



<h6 class="wp-block-heading" id="h-representation-in-23andme-research">Representation in 23andMe Research</h6>



So, what is 23andMe doing to address these research disparities?



23andMe&#8217;s vice president for Research, Joyce Tung addressed that question two years ago in <a href="https://www.statnews.com/2020/06/10/23andme-ancestry-racial-inequity-genetics/">an opinion piece</a>, saying:



&#8220;There is no silver bullet to solve this problem, and it will require prioritizing multiple efforts now and into the future to ensure that we help everyone benefit from the human genome.&#8221;&nbsp;



We have made it a priority and done a lot, but we have so much more work.



Our first significant effort to address research disparities goes back to 2011 when we launched our <a href="https://www.23andme.com/roots/">Roots into the Future</a>. For this project, we recruited 10,000 African Americans to participate in research and help improve the kind of research we could do within the Black community.&nbsp;



Since then, we&#8217;ve had a steady cadence of projects, the <a href="https://www.23andme.com/africa-project/">African Genetics Project</a>, the <a href="https://blog.23andme.com/23andme-research/african-american-sequencing-project/">African American Sequencing Project</a>, and the <a href="https://blog.23andme.com/23andme-research/global-genetics-project/">Global Genetics Project</a>, to name a few. And over the decade, we have built a research cohort that now is among the largest, if not the largest, cohort of African Americans (more than 500,000 people) with both genotypic and phenotypic information and who have consented to participate in research. Moreover, this large group of people with African ancestry who have consented to participate in 23andMe research offers our scientists the chance to study conditions relevant to the Black community.



Over the last year, we&#8217;ve undertaken several additional projects to improve the diversity of our research, doing research relevant to people within the Black Community, and enhancing the types of results we can return to customers with African ancestry.



<h6 class="wp-block-heading">Sickle Cell Anemia &amp; Sickle Cell Trait</h6>



Many of the projects we&#8217;ve been doing over the last year, and continue to be working on now, were only possible with all the effort we&#8217;ve made over the last decade to improve the diversity of our research participants. But, more importantly, customers of African descent who have consented to participate in 23andMe research have allowed us to study conditions important for the Black community.&nbsp;



One of those areas of study is sickle cell anemia, an inherited red blood cell disease caused by the HbS variant in the HBB gene. People who carry just one copy of the HbS variant in the HBB gene have what&#8217;s called sickle cell trait. These carriers will not develop sickle cell anemia, because that requires having two copies of HbS. However, their children could be at risk of inheriting sickle cell anemia if both parents have sickle cell trait. Sickle cell anemia got its name because, in people with the condition, red blood cells become &#8220;sickled&#8221; or crescent-shaped in certain circumstances. Sickle cell anemia affects people around the world. It is most common in people of African descent, but it also impacts people of Middle Eastern and South Asian descent, and people from the Caribbean, the Mediterranean, and parts of Central and South America.&nbsp;



We&#8217;ve been focused on research, new product improvements, and efforts to raise awareness within the Black community about what it means to be a carrier of sickle cell anemia. We recently updated the 23andMe <a href="https://blog.23andme.com/articles/23andme-updates-carrier-status-report-on-sickle-cell-anemia">Sickle Cell Anemia Carrier Status report,</a>* which helps identify carriers who may not otherwise have known their status, as well as provide information about sickle cell anemia and what this report may mean for someone&#8217;s own health and the health of their children.



This comes on the heels of a collaboration with the non-profit <a href="https://blog.23andme.com/articles/sickle-cell-awareness">Breaking the SSickle Cell Cycle Foundation</a> to increase access to sickle cell trait information, promote sickle cell disease awareness, and offer resources for individuals with sickle cell trait and sickle cell disease. About 1 in 13 African Americans and ~300 million people worldwide are carriers for sickle cell anemia, but awareness of sickle cell anemia and how it&#8217;s inherited is often limited. We&#8217;re hoping to change that.



In addition, 23andMe researchers have also undertaken an important research collaboration with scientists at the <a href="https://www.nih.gov/">National Institutes of Health</a> (NIH), and <a href="https://www.hopkinsmedicine.org/som/">Johns Hopkins University School of Medicine</a>. The study is now the largest and most diverse <a href="https://ash.confex.com/ash/2022/webprogram/Paper163883.html">genetic study of sickle cell trait</a> ever done. There will be more to come with this work in the coming months.



<h6 class="wp-block-heading">Representation in Sarcoidosis Research</h6>



In 2022, we also launched a study into the genetic underpinning of sarcoidosis, a rare condition that disproportionately impacts people of African descent. African Americans develop the condition at <a href="https://pubmed.ncbi.nlm.nih.gov/27509154/">twice the rate</a> of those of European ancestry.



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="844" height="754" src="http://35.88.189.111/wp-content/uploads/2022/11/sarcoidosis-logo.jpg" alt="" class="wp-image-30870" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/11/sarcoidosis-logo.jpg 844w, https://blogcms.23andme.com/wp-content/uploads/2022/11/sarcoidosis-logo-300x268.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2022/11/sarcoidosis-logo-768x686.jpg 768w" sizes="auto, (max-width: 844px) 100vw, 844px" /></figure>



Sarcoidosis is an inflammatory disease that results in the clumping of inflammatory cells in different organs. While it mainly affects the lungs, it can affect any organ in the body. Symptoms include fatigue, swollen lymph nodes, or painful swelling of the joints. Because it often affects the lungs, sarcoidosis symptoms may also include shortness of breath, wheezing, a persistent cough, or chest pain. When it involves the heart, the condition may result in irregular heartbeat, accelerated heartbeat, or swelling of the heart, known as edema. It can also affect the eyes resulting in blurred vision.



Currently, there is no cure and few approved treatments.



23andMe wants to change that, yet sarcoidosis is rare, making it particularly challenging to study. However, this is where 23andMe&#8217;s research model and our efforts to recruit within the Black community have proven uniquely suited. In the months since launching the study, we&#8217;ve been able to recruit individuals from across the United States.This has allowed many individuals who might not otherwise be able to participate in research to participate from home.&nbsp;



Just as with most other rare diseases, there is a strong genetic component to sarcoidosis, but many genetic variants associated with the condition have not yet been identified. Nevertheless, we&#8217;re well on our way to meeting our goal of enrolling 2,000 people with sarcoidosis to learn more about the disease&#8217;s genetics.



This research aims to improve the lives of people living with sarcoidosis through a potential treatment discovery.



<h6 class="wp-block-heading">What&#8217;s Next?</h6>



As 23andMe expands representation within our research cohort, we strive to better reflect the rich diversity of the U.S. and world. With continued participation, we hope to continue to share scientific and health insights and conduct research on diseases that have high rates in the Black community to equitably improve health outcomes.



<hr class="wp-block-separator has-alpha-channel-opacity"/>



*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults for the purpose of reporting carrier status and reporting and interpreting genetic health risks. The relevance of each report may vary based on ethnicity. Our carrier status reports can be used to determine carrier status, but cannot determine if you have two copies of any genetic variant. 



These carrier reports are not intended to tell you anything about your risk for developing a disease in the future or anything about the health of your fetus, or your newborn child&#8217;s risk of developing a particular disease later in life. For certain conditions, we provide a single report that includes information on both carrier status and genetic health risk. The Sickle Cell Anemia carrier status report is indicated for the detection of the HbS variant in the HBB gene. The report can tell you if you have two copies of the tested variant, and if you are at risk of developing symptoms of sickle cell anemia, but does not describe your overall risk of developing symptoms. This test is most relevant for people of African descent. It is also relevant for people of Middle Eastern and South Asian descent, as well as people from the Caribbean, the Mediterranean, and parts of Central and South America.

Improving Research on Conditions Relevant to People of African Ancestry

A new study adds another layer of understanding to genetics of musicality, specifically rhythmic perception, and musical engagement or appreciation.



The research led by scientists from the University of Colorado, Vanderbilt University Medical Center and 23andMe, follows on a series of studies looking at the genetics of several different aspects of musicality. 



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="661" height="529" src="http://35.88.189.111/wp-content/uploads/2022/06/Beat-GettyImages-561165061.jpg" alt="" class="wp-image-29888" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/06/Beat-GettyImages-561165061.jpg 661w, https://blogcms.23andme.com/wp-content/uploads/2022/06/Beat-GettyImages-561165061-300x240.jpg 300w" sizes="auto, (max-width: 661px) 100vw, 661px" /></figure>



<h6 class="wp-block-heading" id="h-music-in-life">Music in Life</h6>



These studies explore not just music ability but a wide range of associations between those abilities and such things as cognition, health, language, and neurodevelopment.



“Music plays a huge role in our lives, and we want to understand why music is so tied to our development, personality, and health,” said Daniel Gustavson, an Assistant Research Professor at the University of Colorado Boulder’s Institute for Behavioral Genetics. Gustavson is also a co-author of the study.&nbsp;&nbsp;



“We&#8217;re especially interested in learning whether genetic factors make some people more likely to play music than others, and who might benefit most from being exposed to music lessons,” he said.&nbsp;



<h6 class="wp-block-heading">Nature and Nurture</h6>



Published in the journal, <a href="https://nyaspubs.onlinelibrary.wiley.com/doi/10.1111/nyas.14964">Annal of the New York Academy of Science</a>, this study used a polygenic score from the results of a recent <a href="https://blog.23andme.com/23andme-research/we-got-the-beat/">genome-wide association study</a> to determine the impact of genetic influences on beat synchronization on both rhythmic perception and music engagement.



The work provides a heritability estimate for musical traits that relies on genetic data from 23andMe customers who consented to participate in research and then used a polygenic score to confirm these were some of the same shared genetic influences observed in a recent study of beat synchronization. 



<h6 class="wp-block-heading">Associations with Other Traits</h6>



The researchers then did a cross trait analysis to find distinct associations with non-musical traits like cognition or personality traits. For example, genetic scores capturing high extraversion and a preference for being an evening person were related with more self-reported musical engagement.



“On the one hand, individuals with more accurate (genetically influenced) ability to move in synchrony with a musical beat may be more likely to seek out and engage with music to a greater degree in their lifetime simply because it is easier for them to learn and play,” according to the paper.



The researchers noted that the reverse could also be true. In other words, genes that support musical skills may lead us to seek out music experiences, but early music engagement could also strengthen music skills.



Although we cannot know the direction of causality in these associations from the current data, genetic links among these musicality traits may be explained by multiple factors. Additionally, there are many environmental factors that influence music skills and musical engagement, and their relationship.&nbsp;



The Vanderbilt Music Cognition Lab has very helpful resources to explain genetic research more fully around musicality. You can find out more<a href="https://www.vumc.org/music-cognition-lab/news/faq-about-beat-synchronization-gwas-study"> here</a>.



Related Posts



•<a href="https://blog.23andme.com/articles/rhythm-and-musical-traits"> What the Polygenic Basis of Rhythm Can Tell Us About Musical Traits</a>



• <a href="https://blog.23andme.com/articles/we-got-the-beat">We Got the Beat</a>

Encore, Another Study of the Genetic Influences on Musicality

A genome-wide association study of almost 3.4 million people with diverse ancestries has identified 3,823 genetic variants linked to alcohol and tobacco use.



Published in<a href="https://www.nature.com/articles/s41586-022-05477-4"> Nature</a>, the research was led by a team from the University of Minnesota, Minneapolis, and Pennsylvania State College of Medicine and collaborators from industry and other academic institutions.



The study incorporated the genetic data of almost 3.4 million people with African, American, East Asian, and European Ancestry. Participants were from 60 different cohorts across the globe, including consented research participants from 23andMe.



This is the first study of its kind to include such a diverse population. It updates <a href="https://www.nature.com/articles/s41588-018-0307-5">work </a>done by the same team in 2019 that primarily relied on data from people of European Ancestry.&nbsp;



<h6 class="wp-block-heading" id="h-genetic-architecture-of-substance-use">Genetic architecture of substance use</h6>



Smoking and drinking are leading causes of mortality worldwide and are risk factors for many chronic conditions and psychiatric disorders. Though both behaviors can be influenced by environment and culture, evidence suggests genetics plays a role, too.



The researchers identified 3,823 genetic variants from more than 2,000 genomic regions linked with smoking or drinking traits. More than 2,400 were associated with the likelihood of ever smoking regularly, 243 with the number of cigarettes smoked per day, and 849 with the number of alcoholic drinks consumed per week.



When they compared these genetic variants across the different ancestries, they found striking similarities, indicating that “the genetic architecture underlying substance use is not markedly different across ancestries.”&nbsp;



However, they also noted that polygenic risk scores (DNA-based tools that enhance the ability to predict the risk of certain diseases) developed from people of European Ancestry couldn’t accurately predict alcohol and tobacco use in people of other ancestries.



<h6 class="wp-block-heading" id="h-diversity-is-key">Diversity is key</h6>



Beyond furthering the understanding of substance use and related behaviors, this work also shows how diverse population samples can increase the scope and power of genetic research.



Working with an expanded database allowed the researchers to pinpoint more genetic variants that are strongly linked to alcohol and tobacco use. And by including population samples from a wide variety of ancestry groups, these gene variants were able to be found more quickly.



“Our results highlight that inclusion of individuals of diverse genetic ancestries allows for a better understanding of the genetic architecture of substance use by increasing power to detect variants associated with these behaviors and by improving the generalizability of our findings,” said <a href="https://experts.umn.edu/en/persons/gretchen-r-saunders">Gretchen Saunders</a>, a psychologist at the University of Minnesota, Minneapolis, and a co-author of the paper.&nbsp;



“As we continue to expand [upon this research], we hope to further include individuals who better represent overall global diversity which would allow for the creation of more equitable genetic risk scores, for example.”



You can read the full paper <a href="https://www.nature.com/articles/s41586-022-05477-4">here</a>.

Genetic Associations with Smoking and Drinking

This month, researchers from <a href="https://www.23andme.com/">23andMe</a>, the <a href="https://www.nih.gov/">National Institutes of Health</a> (NIH), and <a href="https://www.hopkinsmedicine.org/som/">Johns Hopkins University School of Medicine</a> presented preliminary data from what is now the largest and most diverse <a href="https://ash.confex.com/ash/2022/webprogram/Paper163883.html">genetic study of sickle cell trait</a> ever done.



<h6 class="wp-block-heading" id="h-link-to-pulmonary-emboli">Link to pulmonary emboli</h6>



The study included data from more than 3.7 million customers who consented to participate in research, including 18,000 with sickle cell trait.&nbsp;



The study found that having sickle cell trait — being a carrier for sickle cell anemia or having one copy of the HbS variant in the HBB gene — is associated with an increased risk for blood clots in the lungs, known as pulmonary emboli.



Someone who has sickle cell trait will not develop sickle cell anemia. However, their children could be at risk of inheriting sickle cell anemia if both parents have sickle cell trait.



While being a carrier does not put you at risk for sickle cell anemia and most individuals will not have any associated health complications, this study and others have shown that sickle cell trait is a risk factor for pulmonary emboli. This study revealed for the first time that this risk exists regardless of ancestry, which has implications for clinical guidelines for individuals who have sickle cell trait.



“We were able to validate the link for venous thromboembolism that smaller epidemiologic studies have shown in the past and identify that this link was predominantly for pulmonary emboli and not for deep vein thrombosis,” said <a href="https://www.hopkinsmedicine.org/profiles/details/rakhi-naik">Rakhi P. Naik</a>, MD, MHS, Clinical Director for the Division of Hematology at Johns Hopkins and a lead researcher on the study.&nbsp;



“These findings are particularly important because they suggest a unique mechanism of thrombosis in individuals with sickle cell trait,” Naik continued. “Clinicians should be aware of the increased risk of pulmonary embolism in sickle cell trait, especially in high-risk situations such as surgery.”



<h6 class="wp-block-heading" id="h-a-significant-study">A significant study</h6>



An abstract on the findings and more <a href="https://ash.confex.com/ash/2022/webprogram/Paper163883.html">detail on the study</a> was presented at <a href="https://www.hematology.org/">the American Society of Hematology</a>’s annual meeting.&nbsp;



“While the initial findings are interesting, the more significant aspect of this study is the size and diversity of the research cohort,” said <a href="https://www.genome.gov/staff/Vence-L-Bonham-Jr-JD">Vence Bonham</a>, JD, acting Deputy Director of the<a href="https://www.genome.gov/"> National Human Genome Research Institute</a> (NHGRI) of NIH, associate investigator in the NHGRI Intramural Research Program, and leader of the NHGRI Health Disparities Unit.&nbsp;



“This preliminary data represents just a first glimpse at the work from this collaboration,” said Bonham, adding that the study is significant because it is not just being conducted among individuals from one ethnic or ancestral background.



Study participants included nearly 200,000 individuals of African ancestry and ~550,000 people of Latine descent, in addition to ~3 million participants of European descent. &nbsp;Most previous studies have been performed solely in African ancestry cohorts, so this study is significant for including multiple population groups and for its sheer size.



The study&#8217;s associations are consistent across all studied ancestral groups, reinforcing that sickle cell trait and its associations are relevant for many carriers.&nbsp;



More than 100 million people worldwide have sickle cell trait, including one million to three million Americans. About eight-to-ten percent of African Americans are carriers, but sickle cell trait can also be found in people of any ethnicity. Sickle cell trait is more common in individuals with ancestors from Africa, Latin America, South Asia, the Mediterranean region of Europe, and Middle Eastern countries.



<h6 class="wp-block-heading" id="h-diversity-in-research">Diversity in research</h6>



For 23andMe, this is not only an opportunity to raise awareness about sickle cell, but also offers the potential to move the needle to increase the diversity of genomic studies.



“This study, the largest to date on sickle cell trait, demonstrates the contribution 23andMe can make to understudied areas of research,” said<a href="https://research.23andme.com/research/#drawer-manage"> Anjali Shastri</a>, PhD, a 23andMe Senior Program Manager for Research. “It underscores the importance of diversity in genomics research, and we believe studies like this should inform clinical care and policy in this space.”&nbsp;



<a href="https://www.linkedin.com/in/julie-granka-69156550">Julie Granka</a>, PhD, a 23andMe Principal Scientist and Statistical Geneticist who worked on the study with Statistical Geneticist <a href="https://research.23andme.com/research/#genomics-drawer">Keng-Han Lin</a>, PhD, believes the work shows the value of 23andMe’s research model. “Leveraging crowd-sourced data from our customers who have consented to participate in research has allowed us to quickly replicate prior findings, as well as make new discoveries uniquely powered by a large dataset,” said Granka.



This work would not have been possible without 23andMe customers with sickle cell trait who consented to participate in research. <a href="https://blog.23andme.com/articles/melinda-king">Melinda King</a>, Head of Diversity, Equity, and Inclusion at 23andMe, acknowledged their important contribution: “I am so grateful and impressed with our 23andMe customers&#8217; willingness to participate in this research. We know that many of them are from communities that suffered unethical treatment from past medical research projects. Despite that history, they trust us to do this important work and know that it is necessary for the greater good of their communities.”



<h6 class="wp-block-heading" id="h-raising-awareness">Raising awareness</h6>



Independent of this collaboration, 23andMe has undertaken other projects to raise awareness and improve our understanding of sickle cell.&nbsp;



Most recently we have worked with the <a href="https://www.btsscycle.org/">Breaking the SSickle Cell Cycle Foundation</a> on <a href="https://blog.23andme.com/health-traits/sickle-cell-awareness/">an awareness campaign</a> to increase access to sickle cell trait information, promote sickle cell disease awareness, and offer resources for individuals with sickle cell trait and sickle cell disease.



Many people don’t fully understand what it means to have sickle cell trait. Bonham and Naik hope that this study and others will help raise awareness about sickle cell in general.



Access the abstract <a href="https://ash.confex.com/ash/2022/webprogram/Paper163883.html">here</a>.

New Research on Sickle Cell Trait

Not too long ago, 23andMe launched a <a href="https://www.23andme.com/sarcoidosis-representation/">new study of sarcoidosis</a>, specifically aimed at better understanding the underlying genetic and environmental factors that contribute to sarcoidosis in individuals with African ancestry.&nbsp;



Sarcoidosis (pronounced SAR-COY-DOE-SIS) is a rare inflammatory disease affects the Black community at double the rate of white individuals, and can affect any organ, but most often, it occurs in the lungs. A study published in 2015 indicated that African-Americans were <a href="https://dx.doi.org/10.1378%2Fchest.14-1120">twelve times more likely</a> to die from the condition than patients of other ethnicities.&nbsp;



Participants in our <a href="https://www.23andme.com/sarcoidosis-representation/">Representation in Sarcoidosis Research Study</a> have already begun sharing their own experiences with the disease. As people have consented to participate in our study, we are learning in real-time more about their earliest symptoms, the types of symptoms, and the treatments they’re using.



Our goal with this study is to gain new insight into the condition leading to potential new treatments or cures. That’s the hope as we work to recruit 2,000 individuals diagnosed with sarcoidosis with African ancestry.



<h6 class="wp-block-heading" id="h-new-data">New data</h6>



There is much we do not understand about sarcoidosis. It’s an insidious disease that can progress slowly without any obvious symptoms. It affects people of any age or ethnicity, but it’s usually diagnosed in adults between the ages of 30 and 40. It disproportionately affects people of African ancestry and is also more common in women.



<figure class="wp-block-image aligncenter size-medium"><img loading="lazy" decoding="async" width="300" height="234" src="http://35.88.189.111/wp-content/uploads/2022/11/Data-Screen-300x234.jpg" alt="" class="wp-image-30871" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/11/Data-Screen-300x234.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2022/11/Data-Screen.jpg 531w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



While we still have a long way to go in our efforts, we’re already learning more about the condition.&nbsp;



For example, among individuals participating in 23andMe’s study, we see that the most commonly reported symptoms were granulomas in the lungs or lymph nodes. Granulomas are tiny nodules where immune cells clump together at the site of an infection or inflammation. Almost 60 percent of those in the study reported granulomas on their lungs. About half said they had them on their lymph nodes. Other common symptoms of sarcoidosis are swollen lymph nodes, rashes, blurred vision, and joint pain or swelling.



23andMe’s early data shows a slightly higher prevalence among women participating in our study. It also shows a higher incidence among African Americans throughout our database. However, the latter may have more to do with our recruitment efforts.



<h6 class="wp-block-heading">Other symptoms</h6>



The data we have now is from both participants in the study and from customers who previously consented to participate in research. This preliminary data shows that lung scarring, also known as pulmonary fibrosis, is more prevalent among African Americans. The data we have so far also indicates that about a third (33 percent) of African Americans with sarcoidosis reported having lung scarring. This is compared to about 29 percent of all participants.&nbsp;&nbsp;



You can get sarcoidosis at any age. But the risk increases as you get older, especially after age 55. The average age of diagnosis among our study participants is 41, but four years younger among African Americans in the study.



Common symptoms for sarcoidosis are fatigue, pain, and swelling. When the condition affects the lungs, symptoms often include persistent coughs and shortness of breath. When it affects the heart, the symptoms often result in an irregular heartbeat or swelling of the heart, known as edema. There currently is no cure and few approved treatments.



We’re learning how our data parallels what we generally know about sarcoidosis&#8217;s earliest symptoms and progression. But we’re also interested in the potential of how this data might offer new insights into the condition. We’re encouraged by how those insights might push us closer to finding new treatments for the disease.



<h6 class="wp-block-heading">Rare disease research</h6>



This study is among a host of studies 23andMe has recently undertaken, looking specifically at rare diseases. Rare disease is defined as conditions that affect fewer than 200,000 people in the US. It is often difficult to find and recruit enough people with the condition, and this is especially the case among the underrepresented population.



<figure class="wp-block-image size-medium"><img loading="lazy" decoding="async" width="300" height="184" src="http://35.88.189.111/wp-content/uploads/2022/11/Visualize-GWAS-300x184.jpg" alt="" class="wp-image-30872" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/11/Visualize-GWAS-300x184.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2022/11/Visualize-GWAS.jpg 616w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



However 23andMe&#8217;s research model is uniquely suited to <a href="https://blog.23andme.com/23andme-research/new-way-to-study-rare-disease/">studying rare diseases</a>. And in the months since launching the Representation in Sarcoidosis Research Study, we’re already seeing the power of our research model to quickly recruit individuals. This is in part because participation isn&#8217;t dependent on geography. People can participate in 23andMe research from home. 



Just as with most other rare diseases, there is a strong genetic component to sarcoidosis. But many genetic variants associated with the condition have not yet been identified.&nbsp;



Learn more about 23andMe’s sarcoidosis study <a href="https://www.23andme.com/sarcoidosis-representation/">here</a>. Questions about the study? Contact us at sarcoidosis-representation@23andme.com.

A logo for the 23andMe sarcoidosis research

Research — Page 9