A new 23andMe genetic study identified a rare variant among people of Puerto Rican ancestry that confers a more than 12-fold increase in the risk of <a href="https://www.cdc.gov/visionhealth/basics/ced/index.html#:~:text=related%20macular%20degeneration.-,Cataract,can%20be%20present%20at%20birth.">cataracts</a>. The rare variant is also associated with a 13-year earlier onset for the condition that leads to clouding of the eye&#8217;s lens and vision loss.



<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="580" height="235" src="http://35.88.189.111/wp-content/uploads/2017/05/Mind-in-the-Eyes-Scale_02.jpeg" alt="" class="wp-image-25383" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/05/Mind-in-the-Eyes-Scale_02.jpeg 580w, https://blogcms.23andme.com/wp-content/uploads/2017/05/Mind-in-the-Eyes-Scale_02-300x122.jpeg 300w" sizes="auto, (max-width: 580px) 100vw, 580px" /></figure>



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



The study, published in the preprint server <a href="https://www.medrxiv.org/content/10.1101/2023.07.25.23293173v1">MedRxiv</a>, highlights the importance of genetic research in historically underrepresented populations.



Veera M. Rajagopal, Ph. D., a scientist specializing in genetics and drug target discovery in neuroscience and psychiatry, said the study offered hope for leveraging this data for insights into other underrepresented populations.



&#8220;Thanks to the diversity of the 23andMe research participants, the researchers were able to make this discovery without even having to fly to the Caribbean Islands and genotype its inhabitants,&#8221; <a href="https://twitter.com/doctorveera/status/1685735375870820352">Rajagopal said on social media</a>. &#8220;With the rapidly growing genomic biobanks, more such discoveries will unfold in the coming years.&#8221;



<h6 class="wp-block-heading" id="h-a-rare-variant">A Rare Variant</h6>



The 23andMe scientists Jingchunzi Shi and Suyash Shringarpure led the study. They identified a variant in the gene ITGA6 associated with cataracts. The ITGA6 gene is expressed in eye tissue.&nbsp;



For this study, the researchers gathered data from about 45,000 23andMe customers of Puerto Rican ancestry. All of these individuals had consented to participate in research. 23andMe’s cohort is among the world&#8217;s largest Puerto Rican genetic research cohorts.



<h6 class="wp-block-heading" id="h-imputation">Imputation</h6>



Before beginning their genome-wide association study, the scientists conducted whole genome sequencing of 500 individuals from the cohort. They then used that data to create an imputation reference panel. This consists of genome-wide variation discovered through the whole-genome sequencing of these 500 individuals.&nbsp;



Researchers often use such reference panels to perform genotype imputation. Genotype imputation is the process of inferring genotypes at many of the areas in the genome not captured on genotyping arrays.&nbsp; Like a code breaker filling in missing letters in a message, scientists use algorithms and data from a whole-genome sequenced reference panel to predict or “impute” the missing letters of genetic data. This allows large-scale genetic studies to expand the number of genetic variants that can be analyzed.&nbsp;



Data from the remainder of the more than 45,000 23andMe research participants in this study comes from genotyping. But the scientists were able to use an imputation reference panel to improve the power of their research, imputing areas in the genome not captured through genotyping alone. This approach is both a cost-effective and efficient way to increase the power of genomic coverage for populations not currently well-represented in research.



<h6 class="wp-block-heading" id="h-population-bottleneck">Population Bottleneck</h6>



The researchers looked at the global distribution of the variant. They found it exceedingly rare except among Puerto Rican and North African populations. The paper tracks a possible pathway for the variant. The researchers describe the migration of North African people to the Canary Islands and migration from the Canary Islands to <a href="https://blog.23andme.com/articles/23andme-adds-more-detail-for-indigenous-caribbean-ancestry">Puerto Rico</a>.&nbsp;



In addition, because a small population initially reached the island, and then that population was isolated over several generations it may have led to what geneticists call a <a href="https://news.berkeley.edu/2022/06/23/bottlenecks-that-reduced-genetic-diversity-were-common-throughout-human-history/">&#8220;population bottleneck.&#8221;</a>&nbsp;



Disease, geographic isolation, migration, or persecution, can all create population bottlenecks. That isolation and a sudden decline in the population limit genetic diversity within a group. Over several generations, in the case of Puerto Rico, 8-12 generations, can lead to distinct genetic differences. This in turn can increase incidences of genetic conditions.&nbsp;



The study still needs to go through a review before publication. Still, the study offers proof of the importance of studying populations of various ethnicities. 23andMe scientists hope that the findings can be replicated in another cohort and that, ultimately, the insights could help <a href="https://blog.23andme.com/articles/cataracts">ongoing research into cataracts.</a>

23andMe Blog

23andMe Blog Team

Genetic Study of Cataracts in Puerto Ricans

It started with a tremor in his pinky finger. Within a year, his hand began to shake. Greg’s doctor diagnosed it as an <a href="https://blog.23andme.com/articles/snpwatch-study-identifies-genetic-variant-associated-with-risk-for-essential-tremor" target="_blank" rel="noreferrer noopener">essential tremor,</a> possibly nerve damage caused by an old sports injury.&nbsp;



Back then, almost 15 years ago now, Greg didn’t let the tremors throw him off. A type-A personality, who focused on his work, he considered himself a “warlord of commerce.” He wasn’t the kind of person who stopped to smell the roses. He didn’t let little things slow him down. He just kept grinding it out.&nbsp;



It wasn’t until 2011, two years after those first little tremors, that he noticed something else was amiss. It was during his daughter’s wedding. The wedding was beautiful. Everyone said so. And many of the guests also repeatedly said how wonderfully fragrant the flowers were, particularly Greg’s daughter’s bouquet. The wedding was his moment to stop and smell the roses, and yet:



“I couldn’t smell a thing.”&nbsp;



<figure class="wp-block-image alignright size-large is-resized"><img loading="lazy" decoding="async" src="http://35.88.189.111/wp-content/uploads/2023/07/GBR-Headshot-RAP-1024x1024.jpeg" alt="A photo of Greg Ritscher" class="wp-image-31990" width="512" height="512" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/07/GBR-Headshot-RAP-1024x1024.jpeg 1024w, https://blogcms.23andme.com/wp-content/uploads/2023/07/GBR-Headshot-RAP-scaled-e1690221242573-150x150.jpeg 150w, https://blogcms.23andme.com/wp-content/uploads/2023/07/GBR-Headshot-RAP-300x300.jpeg 300w, https://blogcms.23andme.com/wp-content/uploads/2023/07/GBR-Headshot-RAP-768x768.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2023/07/GBR-Headshot-RAP-880x880.jpeg 880w, https://blogcms.23andme.com/wp-content/uploads/2023/07/GBR-Headshot-RAP-1180x1180.jpeg 1180w, https://blogcms.23andme.com/wp-content/uploads/2023/07/GBR-Headshot-RAP-scaled-e1690221242573-271x271.jpeg 271w, https://blogcms.23andme.com/wp-content/uploads/2023/07/GBR-Headshot-RAP-scaled-e1690221242573-372x372.jpeg 372w, https://blogcms.23andme.com/wp-content/uploads/2023/07/GBR-Headshot-RAP-scaled-e1690221242573-574x574.jpeg 574w, https://blogcms.23andme.com/wp-content/uploads/2023/07/GBR-Headshot-RAP-scaled-e1690221242573-980x980.jpeg 980w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>



Afterward, Greg did a simple internet search using “tremors” and “loss of smell.” The results made him realize there was a good chance it was Parkinson’s disease. Three months later, in April 2011, a neurologist gave him the official diagnosis, he had Parkinson’s.&nbsp;



For many people, a Parkinson’s diagnosis triggers sadness, fear, denial, or anger. For Greg, a confident and driven person, the diagnosis sparked action.



“I don’t have time for whining and feeling sorry for myself. I just said, ‘I’ve got Parkinson’s; let’s figure it out.’”&nbsp;



<h6 class="wp-block-heading" id="h-figuring-it-out">Figuring it out</h6>



Greg, a 23andMe Parkinson&#8217;s research participant who has been raising awareness about the disease for years, shared his story with us recently. Like a lot of conditions, Parkinson&#8217;s disease affects people differently.



&#8220;I say if you know someone with Parkinson&#8217;s, that means you know one person with Parkinson&#8217;s,&#8221; said Greg. &#8220;It&#8217;s different for all of us.&#8221;&nbsp;



It&#8217;s heartening to see the recent wave of popular movies that include characters with Parkinson&#8217;s disease. Shows like Shrinking or the crime series Kaleidoscope have included characters living with the disease. And, of course, Greg has been inspired by Michael J. Fox and his work raising awareness about Parkinson’s and money for research. He&#8217;s already seen the recently released Fox&#8217;s documentary <a href="https://www.apple.com/tv-pr/originals/still-a-michael-j-fox-movie/#:~:text=Release%20date%3A%20May%2012%2C%202023&amp;text=Intimate%20and%20honest%2C%20and%20produced,optimist%20confronts%20an%20incurable%20disease.">Still</a> twice. Greg said there are many parallels with his own journey.&nbsp;



Beyond the raw view of what it&#8217;s like dealing with a severe movement disorder, Fox&#8217;s attitude hit home for Greg. Fox, whose Parkinson&#8217;s also started with a tremor in his little finger, has been a tireless advocate for research. And even with the pain and difficulty of living with a slowly debilitating disease, Fox has had the wisdom to see that his Parkinson&#8217;s has forced him to look at the world differently.&nbsp;



&#8220;Sometimes in meditation, I can find … that perfect place of serenity and peace and not questioning anything,&#8221; Fox said in a recent interview. &#8220;I couldn&#8217;t do that (before). That&#8217;s where the title of the movie comes from. I had written in one of my books I couldn&#8217;t be still until I could no longer be still.&#8221;



That resonated with Greg, who has taken up art and writing poetry since developing Parkinson&#8217;s.



&#8220;Trust me, if you knew me as a warlord of commerce in my business days, you would have never expected me to get into art and poetry,&#8221; he said. &#8220;Now I&#8217;m kinder. I&#8217;m gentler. I take more time and look people in the eye. I listen.&#8221;&nbsp;



Some of what he has been able to create, even with a condition that causes his hand to shake, baffles him. One of his drawings, a beautiful image of a hand, a brain, and a butterfly, he did one night when he couldn&#8217;t sleep.&nbsp;



&#8220;Anybody who knows me knows I can&#8217;t draw a lick,&#8221; he said, then holding up his trembling hand, he added. &#8220;If you see my right hand, you&#8217;d say that&#8217;s impossible, but it happened. I drew that in one sitting.&#8221;



<h6 class="wp-block-heading">Rise Above</h6>



For Greg coming to terms with his Parkinson&#8217;s meant taking stock. After his diagnosis, he understood that one part of his life was over, but another had begun. He didn&#8217;t want to focus on what he couldn&#8217;t do.



&#8220;I wanted to make a list of new things I could do,&#8221; he said.



Although not religious, Greg said he is &#8220;faith-oriented.&#8221; What he means is that he believes in God, and he believes God has a plan for him. He doesn&#8217;t know the plan yet. He&#8217;s still figuring it out.&nbsp;



&#8220;I&#8217;ve accepted I have Parkinson&#8217;s for a reason, but I have no clue what that reason is other than to help people,&#8221; said Greg.&nbsp;



Part of his approach has been to be engaged, whether connecting with people recently diagnosed with Parkinson&#8217;s disease or participating in local or national groups. He&#8217;s applying the skills he honed over the years in business to Parkinson&#8217;s. He wrote a book, <a href="https://gregritscher.com/">Rising Above Parkinson&#8217;s</a>. Whether working as an &#8220;ambassador to the Parkinson&#8217;s community&#8221; or as a &#8220;Parkinson&#8217;s Warrior,&#8221; he&#8217;s following his instincts.&nbsp;



<h6 class="wp-block-heading">Seeing Signs</h6>



Greg knows that hope is not a plan, but having hope can give you the courage to move forward. For Greg, it also helps inspire him to be engaged in research efforts, even if he knows there is a good chance that he may not benefit from that research. He is active with the <a href="https://www.parkinson.org/">Parkinson&#8217;s Foundation,</a> the <a href="https://davisphinneyfoundation.org/">Davis Phinney Foundation</a>, as well as <a href="https://www.jaxhopeinc.org/">Jax Hope</a> in Florida and <a href="https://parkinsonspointe.org/">Parkinson&#8217;s Pointe</a> in Colorado. He&#8217;s also an active participant in 23andMe&#8217;s <a href="https://www.23andme.com/pd/">Parkinson&#8217;s Research</a> community, even though he does not appear to have known genetic variants in genes associated with the disease, such as <a href="https://blog.23andme.com/articles/preliminary-results-from-the-parkinsons-impact-project-baseline-survey">LRRK2</a> and GBA.&nbsp;



&#8220;I want to do everything in my power to end this disease in my lifetime,&#8221; said Greg.&nbsp;



There was never a doubt that he&#8217;d participate in research, and along with participating in 23andMe research, he has contributed to more than 50 other studies.



&#8220;I want Parkinson&#8217;s to wish it had never met me.&#8221;



He knows that by participating, scientists may learn more about the condition that could help him and others. And he is doing all of this while also dealing with his health issues. The tremors on the right side of his body have made it difficult to eat, shave, and drink.&nbsp;



<figure class="wp-block-image alignright size-large is-resized"><img loading="lazy" decoding="async" src="http://35.88.189.111/wp-content/uploads/2023/07/Hope-Hand-765x1024.jpg" alt="A drawing by Greg of a hand, a butterfly and a brain." class="wp-image-31991" width="383" height="512" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/07/Hope-Hand-765x1024.jpg 765w, https://blogcms.23andme.com/wp-content/uploads/2023/07/Hope-Hand-224x300.jpg 224w, https://blogcms.23andme.com/wp-content/uploads/2023/07/Hope-Hand-768x1027.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2023/07/Hope-Hand-658x880.jpg 658w, https://blogcms.23andme.com/wp-content/uploads/2023/07/Hope-Hand-882x1180.jpg 882w, https://blogcms.23andme.com/wp-content/uploads/2023/07/Hope-Hand-scaled.jpg 1914w" sizes="auto, (max-width: 383px) 100vw, 383px" /></figure>



Recently he underwent a surgical procedure called Deep Brain Stimulation (DBS), which involves placing thin metal wires in the brain that send micro electrical current to the brain meant to help reduce his <a href="https://www.michaeljfox.org/news/dyskinesia">dyskinesia</a>, the involuntary and uncontrolled tremors. It&#8217;s too early to tell if the procedure has helped him as his doctor works at properly calibrating the treatment. That said, since the operation, he has been able to smell for the first time in 15 years.&nbsp;



But beyond the treatment, Greg said there are still things that are revealing themselves about his condition. In the drawing he made one night when he couldn&#8217;t sleep, there were things in the image that he is only now starting to process. On the butterfly&#8217;s wings are little details that he believes represent the procedure he underwent, for instance. And on the hand, in tiny letters, is his name. Not long after drawing that, he saw a verse in the Bible, &#8220;Behold I engraved you on the palms of my hands.&#8221;



&#8220;God is holding us in our hand with our name etched on his fingers,&#8221; said Greg. &#8220;God has given me a gift to talk about this, and I want to reach and inspire people and give them hope.&#8221;

Rising Above Parkinson’s Disease

For World Sickle Cell Day, we want to spotlight the work our researchers and collaborators are doing as part of 23andMe&#8217;s <a href="https://www.23andme.com/sickle-cell">Sickle Cell Carrier Status Awareness Program</a>.



This day is meant to draw attention to those affected by sickle cell disease worldwide and what it means to have sickle cell trait. Raising awareness can help empower people to learn their own sickle cell status and draw attention to the need for further research and treatments for sickle cell disease.



<figure class="wp-block-image aligncenter size-large"><img loading="lazy" decoding="async" width="1024" height="538" src="http://35.88.189.111/wp-content/uploads/2023/06/Open-Graph-Image-1024x538.png" alt="" class="wp-image-31918" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/06/Open-Graph-Image-1024x538.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2023/06/Open-Graph-Image-300x158.png 300w, https://blogcms.23andme.com/wp-content/uploads/2023/06/Open-Graph-Image-768x403.png 768w, https://blogcms.23andme.com/wp-content/uploads/2023/06/Open-Graph-Image-880x462.png 880w, https://blogcms.23andme.com/wp-content/uploads/2023/06/Open-Graph-Image-1180x620.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2023/06/Open-Graph-Image.png 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



<h6 class="wp-block-heading" id="h-what-are-sickle-cell-trait-and-sickle-cell-disease">What are Sickle Cell Trait and Sickle Cell Disease?</h6>



An estimated 300 million people worldwide and 1 in 13 Black or African Americans have sickle cell trait, meaning they carry one copy of the HbS variant in the HBB gene.&nbsp;



The HBB gene contains instructions for making part of the hemoglobin protein, which helps red blood cells carry oxygen in our bodies. The HbS genetic variant can cause red blood cells to have a &#8220;sickle&#8221; (or crescent) shape. 



People with sickle cell trait typically do not experience any symptoms unless under extreme conditions, because they usually have enough normal hemoglobin in their red blood cells to compensate. However, if both parents have sickle cell trait their children are at risk of inheriting the form of sickle cell disease known as sickle cell anemia. In people with sickle cell anemia, red blood cells can get stuck in small blood vessels, which can lead to pain crises, organ damage, and other serious complications.



That&#8217;s why understanding whether you have sickle cell trait is so important. Over 100,000 people in the United States are affected by sickle cell disease, disproportionately impacting the Black community.



<h6 class="wp-block-heading">The Sickle Cell Carrier Status Awareness Program</h6>



At 23andMe, we believe that knowledge is power. understanding risks offers people opportunities to mitigate them.&nbsp;



But more than that, 23andMe also offers a unique research model that allows individuals to learn about their genetic likelihood of developing a condition and participate in innovative genetic research that could find new treatments.



As part of our <a href="http://www.23andme.com/sickle-cell">Sickle Cell Carrier Status Awareness Program</a>, 23andMe has collaborated with academics and advocacy organizations to increase understanding of sickle cell. In addition we&#8217;re providing resources for those with sickle cell trait and sickle cell disease. With the help of the Sickle Cell Foundation of Georgia, Breaking the SSickle Cell Cycle, and the Morehouse School of Medicine, we&#8217;re working with Black communities to promote awareness.&nbsp;



As part of that effort, 23andMe offered its Health + Ancestry Service at no cost to Morehouse School of Medicine students, faculty, and staff. The service includes a Carrier Status report on sickle cell anemia.* The Sickle Cell Foundation of Georgia also offered program participants counseling after receiving their 23andMe results. This program is one of many ways 23andMe and the Morehouse School of Medicine work together to increase equity in genetics and genomics.



&#8220;I see this as an opportunity to remove a barrier to screening,&#8221; said Dr. Lametra Scott, Executive Director of the Breaking the SSickle Cell Cycle. “Typically, young adults don&#8217;t get tested. It&#8217;s best to have the information before family planning so you aren&#8217;t blindsided and have options.&#8221;



<h6 class="wp-block-heading">The Power of Research</h6>



23andMe also offers a unique research model that allows individuals to&nbsp; participate in innovative genetic research that could lead to new discoveries and potentially help find new treatments.



So along with empowering people with knowledge of their sickle cell trait status, 23andMe also contributes to sickle cell research.



Most recently, a study in collaboration with researchers from the <a href="https://www.nih.gov/">National Institutes of Health</a> and <a href="https://www.hopkinsmedicine.org/som/">Johns Hopkins University School of Medicine</a> looked at the link between <a href="https://blog.23andme.com/articles/new-research-on-sickle-cell-trait">blood clots and sickle cell trait.</a> The study is believed to be 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. The scientists presented preliminary data from their work in late 2022. When we publish the complete study, we look forward to sharing those results with the community.



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



Find out about <a href="http://www.23andme.com/sickle-cell">23andMe&#8217;s Sickle Cell Carrier Status Program here.</a>



<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. For important information and limitations regarding each carrier status report, visit&nbsp; <a href="https://www.23andme.com/test-info/">https://www.23andme.com/test-info/</a>

An illustration for 23andMe's Sickle Cell Carrier Statues Awareness Program.

23andMe’s Sickle Cell Carrier Status Awareness Program

This April, 23andMe is lending a hand to the <a href="https://www.berniemacfoundation.org/" target="_blank" rel="noreferrer noopener">Bernie Mac Foundation</a> to shine a light during Sarcoidosis Awareness Month on a condition that disproportionately impacts the Black community. 



The brilliant Chicago-based comedian Bernard J. McCullough, also known as &#8220;Bernie Mac,&#8221; lived with sarcoidosis for years and died from complications of the disease in 2008. But before his death, Bernie and his wife Rhonda started the foundation, and with his wife at the helm, the foundation lives on. It&#8217;s become a vital force in raising awareness about sarcoidosis, along with raising money for research that may lead to new treatments or a potential cure.&nbsp;



On April 22nd, the foundation will host its <a href="https://www.eventbrite.com/e/6th-annual-purple-carpet-fundraiser-tickets-579408816367">6th annual fundraising event</a> in Chicago — proceeds from this event will benefit the Bernie Mac STAR (Sarcoidosis Translational Advanced Research) clinic. 23andMe is a corporate sponsor of this event and will attend to lend our support.&nbsp; We will also be providing complimentary Health + Ancestry kits for attendees.



<h6 class="wp-block-heading">What is Sarcoidosis?</h6>



<a href="https://www.berniemacfoundation.org/sarcoidosis">Sarcoidosis</a>, pronounced SAR-COY-DOE-SIS, is a rare inflammatory disease that affects the Black community at double the rate of white individuals.&nbsp;



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



Currently, there is no cure and few approved treatments.



A study published in 2015 indicated that <a href="https://dx.doi.org/10.1378%2Fchest.14-1120" target="_blank" rel="noreferrer noopener">African Americans were twelve times more likely to die</a> from the condition than patients of other ethnicities. Unfortunately, just as with other conditions that disproportionately impact underrepresented communities, awareness about sarcoidosis and funding for research is sorely lacking. 



<h6 class="wp-block-heading">23andMe&#8217;s Representation in Sarcoidosis Research&nbsp;</h6>



In 2022, 23andMe <a href="https://blog.23andme.com/articles/sarcoidosis-representation" target="_blank" rel="noreferrer noopener">launched a study into the genetic underpinning of sarcoidosis</a>. 



Just as with most other rare diseases, sarcoidosis has a strong genetic component. But many genetic variants associated with the condition have yet to be identified. Though our recruitment effort is ongoing, we&#8217;re already gathering interesting insights from those currently participating. For instance, among those participating in our research, the most reported symptoms were <a href="https://blog.23andme.com/articles/a-check-in-on-23andmes-sarcoidosis-research-study" target="_blank" rel="noreferrer noopener">granulomas in the lungs or lymph nodes</a>. Granulomas are tiny nodules where immune cells clump together at an infection or inflammation site. 



23andMe&#8217;s work on sarcoidosis research is part of a broader effort to improve representation in genetic research, especially for diseases that are more prevalent in those with African ancestry.&nbsp;&nbsp;



<h6 class="wp-block-heading">A Commitment to Representation in Research</h6>



This is all part of a long standing commitment to address research disparities which we started back in 2011 when we launched our Roots into the Future.&nbsp;



Since then, we&#8217;ve had a steady cadence of projects, from the <a href="https://www.23andme.com/africa-project/" target="_blank" rel="noreferrer noopener">African Genetics Project</a> to the <a href="https://blog.23andme.com/23andme-research/african-american-sequencing-project/" target="_blank" rel="noreferrer noopener">African American Sequencing Project</a> and the <a href="https://blog.23andme.com/23andme-research/global-genetics-project/" target="_blank" rel="noreferrer noopener">Global Genetics Project</a>. We&#8217;ve also begun work on <a href="https://blog.23andme.com/articles/new-research-on-sickle-cell-trait" target="_blank" rel="noreferrer noopener">sickle cell research</a> as well as a <a href="https://blog.23andme.com/articles/sickle-cell-awareness" target="_blank" rel="noreferrer noopener">sickle cell awareness program</a>.



Representation in research is important because, without it, the benefits from research fail to help all people. This further compounds health disparities.&nbsp;



To counter that 23andMe has done work within the Black community, connecting with groups like the Bernie Mac Foundation, in the case of sarcoidosis.&nbsp;



Many of the projects we&#8217;ve been doing over the last year, 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. 



Beyond 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" target="_blank" rel="noreferrer noopener">genetic studies that include diverse, multi-ethnic participants</a> have a higher chance of discovering important genetic variants associated with diseases. Those associations would have been missed in studies that focus only on one homogenous group. 



<h6 class="wp-block-heading" id="h-learn-more">Learn More</h6>



In doing this work, we also acknowledge the history of mistreatment of the Black community in research. This history has played a role in a hesitancy to participate in studies like this. All of our research is overseen by an external independent research review board. We also have internal reviews to ensure that we conduct our research in a way that does not perpetuate the unethical treatment of under-represented communities.



As with any study we conduct, we&#8217;ve also ensured that we respect participants&#8217; ethical rights, privacy, and humanity. We never share genetic or self-reported Information without participants&#8217; consent. To <a href="https://www.23andme.com/privacy/" target="_blank" rel="noreferrer noopener">learn more about privacy at 23andMe go here.</a>



 Learn more about 23andMe&#8217;s Representation in Sarcoidosis Research Study <a href="https://www.23andme.com/sarcoidosis-representation/">here</a> and learn more about the Bernie Mac Foundation <a href="https://www.berniemacfoundation.org/" target="_blank" rel="noreferrer noopener">here</a>.

A logo for the 23andMe sarcoidosis research

Raising Awareness About Sarcoidosis

23andMe has joined forces with Morehouse School of Medicine and the <a href="https://www.sicklecellga.org/" target="_blank" rel="noreferrer noopener">Sickle Cell Foundation of Georgia</a> to launch a sickle cell carrier status awareness program.



It aims to improve access to sickle cell carrier status information and offer people clearer understanding of the differences between having sickle cell trait — being a carrier of sickle cell disease — versus having sickle cell disease.&nbsp;



<h6 class="wp-block-heading" id="h-the-sickle-cell-carrier-status-awareness-program">The Sickle Cell Carrier Status Awareness Program</h6>



As part of the program, 23andMe will offer its Health + Ancestry DNA testing kits at no cost to students, faculty, and staff at <a href="https://www.msm.edu/" target="_blank" rel="noreferrer noopener">Morehouse School of Medicine</a>. In addition to gaining information about their ancestry and health, participants will also gain access to the Sickle Cell Anemia Carrier Status report.* This service provides participants with information about their ancestry, health and more.  Participants will also be able to learn whether they are a carrier for sickle cell anemia. The report has information about what it means to be a carrier of the sickle cell anemia (also known as having sickle cell trait), and other resources. In addition, the program will also offer participants the opportunity to use counseling services from the Sickle Cell Foundation of Georgia.



“Our goal at 23andMe is to empower people through access to their genetic data, enabling consumers to make better, more informed decisions about their health,” said Joyce Tung, Vice President, Research at 23andMe.



23andMe is also working on sickle cell research, most recently in collaboration with scientists at the <a href="https://www.nih.gov/" target="_blank" rel="noreferrer noopener">National Institutes of Health</a> and <a href="https://www.hopkinsmedicine.org/som/" target="_blank" rel="noreferrer noopener">Johns Hopkins University School of Medicine</a>. The team also recently presented preliminary data from our work on what is now the largest and most diverse genetic study of sickle cell trait ever done.



“In addition to educating more people on certain genetic health risks, we believe this collaboration can contribute to more equitable research in, and product development for, groups of non-European ancestry,” Joyce said.



<h6 class="wp-block-heading">More about Sickle Cell Trait and Sickle Cell Disease</h6>



But a lot of work is needed to raise awareness more broadly about these conditions.



About one in 13 African Americans have the sickle cell trait, meaning that they have one copy of the HbS variant in the HBB gene. In other words, they are carriers of the sickle cell anemia and can pass that variant on to their children. Yet despite the prevalence of the sickle cell trait, many people, even carriers, do not fully understand what it means or how sickle cell disease is inherited.



The most commonly known form of sickle cell disease is sickle cell anemia. To have sickle cell anemia, a person must inherit two copies of the HbS variant — one from each biological parent. People with just one copy of the HbS variant are called carriers; they’re also said to have <a href="https://www.cdc.gov/ncbddd/sicklecell/traits.html" target="_blank" rel="noreferrer noopener">sickle cell trait</a>. They’re not expected to have sickle cell anemia themselves, and they typically do not experience any health complications. However, they could pass their variant on to their future children. If their partner has the HbS variant, there’s a 25 percent chance that each child may have sickle cell anemia.  



But there are other forms of sickle cell disease that are caused by other variants in the HBB gene. Instead of having two copies of the HbS variant like people with sickle cell anemia, people with other types of sickle cell disease have one copy of the HbS variant and one copy of another variant in the HBB gene. Examples of other types of sickle cell disease include hemoglobin SC disease and sickle beta thalassemia disease.



<h6 class="wp-block-heading">23andMe’s Sickle Cell Anemia Carrier Status Report</h6>



23andMe’s <a href="https://www.23andme.com/topics/carrier/sickle-cell-anemia/" target="_blank" rel="noreferrer noopener">Sickle Cell Anemia Carrier Status Report</a> looks at the HbS variant in the HBB gene.



The report can also tell individuals if they have two copies of the tested variant, and if they are at risk of developing symptoms of sickle cell anemia, but the report does not describe one’s overall risk of developing symptoms. It is most relevant for people of African descent, people of Middle Eastern and South Asian descent, as well as people from the Caribbean, the Mediterranean, and parts of Central and South America.



23andMe’s Sickle Cell Anemia Carrier Status report tests for the HbS variant linked to sickle cell anemia, the most severe form of sickle cell disease. Three-hundred-million people worldwide and one in thirteen Black or African Americans in the United States have sickle cell trait, making them carriers for sickle cell anemia.&nbsp;



<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’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. For important information and limitations regarding other genetic health risk reports and carrier status reports, click <a href="https://www.23andme.com/test-info/">here</a>.

Teaming Up to Raise Awareness About Sickle Cell

Scientists in Australia have found an overlap between some of the underlying genes associated with migraines and those associated with blood sugar imbalances.



<h6 class="wp-block-heading" id="h-glycemic-headache">Glycemic Headache</h6>



The findings firm up a long-suspected connection between migraines and blood sugar regulation. Migraines affect greater than<a href="https://jamanetwork.com/journals/jama/fullarticle/2787727#:~:text=Migraine%20affects%20an%20estimated%20more,in%20women%20than%20in%20men."> 10 percent of the world population</a>. Women are more than three times more likely to experience migraines than men.



“As far back as 1935, migraine was described as a ‘glycemic headache’,” said Dale Nyholt, professor at the Australia’s Queensland University of Technology<a href="https://www.qut.edu.au/research/centre-for-genomics-and-personalised-health" target="_blank" rel="noreferrer noopener"> Centre for Genomics and Personalised Health</a>. “Glycemic traits such as insulin resistance, hyperinsulinemia (too much insulin), hypoglycemia (low blood sugar level) and type 2 diabetes are associated with migraine and headache.”



<h6 class="wp-block-heading">Understanding the Link</h6>



The genetic overlap of those traits helps scientists better understand how migraines and blood sugar may be related. It may also help scientists studying the best way to treat the condition. The link between migraines and blood sugar has been known. However, this is the first time researchers could see a genetic link between the two, Nyholt said.



Researchers at the Australia’s Queensland University of Technology led the study. It looked at data from more than a dozen institutions including from 23andMe. In all, data from almost 900,000 individuals was included in the study. About 100,000 of those individuals were 23andMe customers who consented to participate in research.



To read the full paper go to the journal<a href="https://link.springer.com/article/10.1007/s00439-023-02532-6"> Human Genetics</a>.



<a href="https://blog.23andme.com/articles/mutiny-and-headaches-on-the-bounty" target="_blank" rel="noreferrer noopener">Other studies</a> have pointed to variants near genes that regulate serotonin levels. Serotonin is a messaging molecule produced by specialized brain cells and influences a wide range of human behavior, including appetite, sleep, memory, and mood.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="996" height="1024" src="http://35.88.189.111/wp-content/uploads/2022/03/Canada-and-UK-Migraine-Report-996x1024.png" alt="" class="wp-image-29596" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/03/Canada-and-UK-Migraine-Report-996x1024.png 996w, https://blogcms.23andme.com/wp-content/uploads/2022/03/Canada-and-UK-Migraine-Report-292x300.png 292w, https://blogcms.23andme.com/wp-content/uploads/2022/03/Canada-and-UK-Migraine-Report-768x789.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/03/Canada-and-UK-Migraine-Report-856x880.png 856w, https://blogcms.23andme.com/wp-content/uploads/2022/03/Canada-and-UK-Migraine-Report.png 1083w" sizes="auto, (max-width: 996px) 100vw, 996px" /></figure>



23andMe+ member can learn about what their genetic says about their own likelihood of developing migraines <a href="https://you.23andme.com/reports/prs.migraine/" target="_blank" rel="noreferrer noopener">here</a>. 



The 23andMe+ Migraine Report looks at more than 20,000 genetic variants along with the ethnicity and sex to estimate the likelihood of experiencing migraine headaches.



Not yet a 23andMe+ member? Find out more <a href="https://www.23andme.com/compare-dna-tests/" target="_blank" rel="noreferrer noopener">here</a>.

Genetic Links Between Migraines and Blood Sugar

In early March 2020, the World Health Organization declared we were in the middle of a worldwide pandemic. Three years later, and few things are left untouched by the COVID-19 virus. Almost seven million people worldwide have died, and untold millions are still struggling with long COVID. Yet, looking at all that has happened and continues to transpire, there is much to glean from this experience.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="914" height="1024" src="http://35.88.189.111/wp-content/uploads/2022/02/COVID-Study-Graphic-914x1024.jpg" alt="" class="wp-image-29489" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/02/COVID-Study-Graphic-914x1024.jpg 914w, https://blogcms.23andme.com/wp-content/uploads/2022/02/COVID-Study-Graphic-268x300.jpg 268w, https://blogcms.23andme.com/wp-content/uploads/2022/02/COVID-Study-Graphic-768x861.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/02/COVID-Study-Graphic-785x880.jpg 785w, https://blogcms.23andme.com/wp-content/uploads/2022/02/COVID-Study-Graphic.jpg 1026w" sizes="auto, (max-width: 914px) 100vw, 914px" /><figcaption class="wp-element-caption">A run-down of COVID-19 research during the first months of the pandemic.</figcaption></figure>



Others are looking at the public health response, public policy, questions about the virus&#8217;s origin and other issues that are very important. But we here at 23andMe want to look at the science, or at least what we learned through our ongoing research of COVID-19.



<h6 class="wp-block-heading" id="h-the-covid-19-study">The COVID-19 Study</h6>



So, how has 23andMe contributed to COVID-19 research?



When the pandemic emerged, our scientists, like others worldwide, asked what we could do to help. 23andMe has a research platform that leverages one of the largest genetic and phenotypic databases of consented research participants to generate genetic insights at unprecedented speed. So back in March 2020, we decided to leverage this tool to learn as much as possible about the virus and share it as rapidly as possible with others. That&#8217;s how we began our <a href="https://you.23andme.com/covid19-study/">COVID-19 study</a>.



We launched in March 2020, asking our customers who have consented to participate in research about their own experience with the virus. In a matter of a few months, we had more than 1.2 million people participating in our study, and we were able to generate a host of insights. By June, we shared our first finding — that <a href="https://blog.23andme.com/23andme-research/blood-type-and-covid-19/" target="_blank" rel="noreferrer noopener">blood type</a> could play a role in the susceptibility of the virus. In addition, we identified a locus on chromosome 3 that could influence the severity in symptoms among those who get it.



In less than 90 days, we were able to analyze results and share them with other scientists, offering insights into the nature of the virus and why some people may be more susceptible or have a more severe reaction than others. We published the findings on a preprint server in September and later in <a href="https://www.nature.com/articles/s41588-021-00854-7" target="_blank" rel="noreferrer noopener">Nature Genetics</a>.



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="675" height="711" src="http://35.88.189.111/wp-content/uploads/2013/04/Empty-Bed.jpg" alt="An empty bed." class="wp-image-17852" srcset="https://blogcms.23andme.com/wp-content/uploads/2013/04/Empty-Bed.jpg 675w, https://blogcms.23andme.com/wp-content/uploads/2013/04/Empty-Bed-285x300.jpg 285w" sizes="auto, (max-width: 675px) 100vw, 675px" /></figure>



<h6 class="wp-block-heading">Taste, Smell, Anxiety, and Sleep</h6>



We found other genetic insights, including genetic associations with the loss of <a href="https://blog.23andme.com/23andme-research/loss-of-smell-covid-study/" target="_blank" rel="noreferrer noopener">smell and taste</a>, a common symptom among those with the virus. This information could indicate how the coronavirus SARS-CoV-2 enters the body and accumulates in the olfactory cells of those infected.



23andMe scientists also looked at <a href="https://blog.23andme.com/23andme-research/covid-19-vaccine-reactions/" target="_blank" rel="noreferrer noopener">vaccine reactions</a>. We learned that the second in the two-dose Moderna vaccine produced the strongest response, and we found that younger people and women tended to have a stronger reaction to the vaccine.



We also garnered insight into the vaccine’s impact on underrepresented populations. Because 23andMe has so many individuals from traditionally underrepresented populations, our scientists were able to look at how the virus impacted people of <a href="https://blog.23andme.com/23andme-research/impact-disparities-of-covid-19/" target="_blank" rel="noreferrer noopener">different ethnicities</a>.



We did other non-genetic studies looking more broadly at how the pandemic, <a href="https://blog.23andme.com/articles/social-distancing-and-covid-19" target="_blank" rel="noreferrer noopener">social distancing</a> guidelines, and other public health responses were impacting people&#8217;s <a href="https://blog.23andme.com/articles/covid-impact-on-sleep">sleep</a> <a href="https://blog.23andme.com/articles/activity-changes-during-covid" target="_blank" rel="noreferrer noopener">and activity levels</a>. 



<h6 class="wp-block-heading">Long COVID</h6>



More recently, we&#8217;ve looked at how <a href="https://blog.23andme.com/articles/anxiety-long-covid" target="_blank" rel="noreferrer noopener">depression and anxiety</a> significantly increase the risk for <a href="https://blog.23andme.com/articles/anxiety-depression-long-covid" target="_blank" rel="noreferrer noopener">Long COVID</a>. Ours was one of the largest studies of long COVID at the time and confirmed that long COVID disproportionately impacts women.  



In three years, we learned a lot. But we still need to learn more, particularly about the long-term implications of having had the virus, and long COVID itself.



We&#8217;re now focused on long COVID, trying to understand why it impacts women more than men. We&#8217;re also looking at an apparent association with cardiometabolic diseases, such as <a href="https://www.23andme.com/topics/health-predispositions/high-blood-pressure/" target="_blank" rel="noreferrer noopener">high blood pressure</a>, <a href="https://www.23andme.com/topics/health-predispositions/coronary-artery-disease/" target="_blank" rel="noreferrer noopener">coronary artery disease,</a> <a href="https://www.23andme.com/topics/health-predispositions/type-2-diabetes/" target="_blank" rel="noreferrer noopener">type 2 diabetes</a>, and <a href="https://www.23andme.com/topics/health-predispositions/ldl-cholesterol/" target="_blank" rel="noreferrer noopener">high cholesterol</a>.



As new insights into COVID-19 arise, we’ll be sure to share them.

A logo for 23andMe's COVID-19 Research Study

COVID-19 Three Years In 

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.



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



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"/>

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>.

Research — Page 8