Not all the discoveries made on 23andMe are quite as profound as <a href="https://blog.23andme.com/articles/stories-from-23andme-neil-schwartzman" target="_blank" rel="noopener noreferrer">Neil Schwartzman</a> finding his half-sister and mother, but even when 23andMe’s Relative Finder links distant cousins together those connections can still be electric.
Gerald Lopez, a customer who found a fourth or fifth cousin and information about his mixed ancestry, said it was like discovering “history that’s not written in history books.”
23andMe’s <a title="Relative Finder" href="https://www.23andme.com/ancestry/relfinder/" target="_blank" rel="noopener noreferrer">Relative Finder</a> &nbsp;uses genetic data instead of archived records to identify family relationships. Where written paper records fail, genetic information can sometimes fill in the gaps. Pieces of DNA are passed down from generation-to-generation, so that our genetic data is our own repository of information about our ancestry. Comparing any two people’s DNA can also determine whether they are related.
<img loading="lazy" decoding="async" class="alignright wp-image-9549 size-medium" title="RF Results Sample" src="http://35.88.189.111/wp-content/uploads/2011/08/RF-Results-Sample-300x65.jpg" alt="" width="300" height="65" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/08/RF-Results-Sample-300x65.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/08/RF-Results-Sample.jpg 569w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Customers have identified more than 700 previously unknown family relationships discovered through Relative Finder. They’ve found fifth and fourth cousins like Gerald and a few, like Neil, have even found parents and siblings.
Among our more than <a href="https://blog.23andme.com/articles/state-of-the-database-2011" target="_blank" rel="noopener noreferrer">100,000 customers</a>, Relative Finder has identified 82,000 relationships that are either 4th cousins or closer.
Recently we updated Relative Finder to make it easier to use and search. Now users can show genealogical information &#8212; surnames, family locations, etc. This makes it easier for users to sort through potential matches. We also updated Relative Finder so that users can record notes about their matches, and confirm relationships. And the information available is rapidly increasing.
Even if you don’t consider yourself a genealogist, you might be surprised how fulfilling it can be to discover a common connection. You can remain anonymous if you choose, and only information in your profile that you designate as “visible to all 23andMe members” will be shown to your Relative Finder matches, so you can share as little or as much as you like.
And if you need help tracing a connection, many experienced Relative Finder “sleuths” are available in the community to offer tips and encouragement.
If there’s something that binds all 23andMe users together, it is a healthy curiosity about themselves and their DNA. So let Relative Finder broaden your horizons and let your DNA give you more to relate to!
If you’ve already discovered something interesting about your family through Relative Finder, do tell. We’re interested in hearing your stories &#8212; simply send them along to <a href="mailto:stories@23andme.com" target="_blank" rel="noopener noreferrer">stories@23andme.com</a>.
<a href="https://blog.23andme.com/category/23andme-customer-stories/">Read more 23andMe customer stories &gt;&gt;</a>

23andMe Blog

23andMe Blog Team

Making Connections with Relative Finder

It started innocently enough with a simple question from his daughter.
“Where did our family come from?”
<img loading="lazy" decoding="async" class="alignright size-full wp-image-9594" title="Vicksburg 014 Jan 08" src="https://blog-api.23andme.com/wp-content/uploads/2011/08/Vicksburg-014-Jan-08.jpg" alt="" width="226" height="170" />(Image from Larry Vick&#8217;s <a href="http://vickfamilyhistory.blogpost.com/" target="_blank" rel="noopener">blog</a>)
For 20 years Larry Vick has been trying to answer that question. His first source was a chart drawn up by an uncle, but since then Vick has turned to old Census files, birth certificates and historical documents to piece together his family tree. It’s grown to 40 pages that trace ancestors back to the early 1600s in colonial America and another branch of the family back to Germany.
He traced the origin of his family name, and created a whole website on the study of the <a href="http://vickfamilyhistory.blogspot.com/" target="_blank" rel="noopener">name Vick</a>.
Retired from the Air Force, Vick is fascinated by genealogy, so when he learned about “genetic genealogy” and the ability to trace ancestry through DNA, he decided to give it a try.
He first used 23andMe in 2009.
“My most distant (that I can identify) paternal line ancestor (Y-DNA) was Joseph Vick of Lower Parish, Isle of Wight Co., VA, born about 1640-1650,” Vick said. “My most distant maternal line ancestor (mtDNA) was Elizabeth, born about 1792 in NC.”
The test also revealed some surprises.
He noticed on his maternal line African ancestry. “I thought, ‘that’s an artifact,’” he said.
But what he found was that his mother’s 2nd great grandmother, Elizabeth Collins, probably did indeed have some mixed ancestry. She’d come from an area in Tennessee called Newman’s Ridge, where people often referred to themselves as “Black Dutch.” The population there – and in the Cumberland Gap area of Appalachia – was also referred to as “<a href="https://en.wikipedia.org/wiki/Melungeon" target="_blank" rel="noopener">Melungeon</a>,” tri-racial with a mix European, African and Native American ancestry.
Vick’s use of 23andMe’s ancestry finder also helped him track down a distant cousin – who also happened to share his interest in genealogy. They traced back their connection to a common ancestor in pre-revolutionary America. That story was picked up by CNN three years ago.
While Vick’s interest is primarily in the ancestry functions of 23andMe, he said the service offers more.
“At first I had no interest in the health side,” Vick said.
That has since changed he learned his granddaughter, who has also been tested by 23andMe, had a high risk for deep vein thrombosis. He immediately talked to his daughter. Since neither he nor his daughter had an elevated risk for deep vein thrombosis, it appeared his granddaughter had inherited this risk from his son-in-law’s side of the family. Because his son-in-law was adopted and did not know anything about his biological parents’ health history, the insight about this risk told them something they otherwise would not have known. This risk can be heightened for women who are also taking an oral contraception, hormone replacement or who are pregnant.
Vick said that because the number of people who use 23andMe, its power grows.
“It’s kind of like panning for gold, when you find a relative it can be golden,” he said.
23andMe provides genetic testing services for informational purposes; your results may or may not help you to search for or identify relatives or family members.
What&#8217;s your story? If you&#8217;re willing to share, we want to hear. Drop us a line at <a href="mailto:stories@23andme.com">stories@23andme.com</a>.

Stories From 23andMe: James Larry Vick and the “Black Dutch” of Newman’s Ridge

In May, Neil Schwartzman opened an email message from a complete stranger.
“Hey,” it said. “I think you’re my brother.”
Neil is one of now thousands of 23andMe users who’ve discovered family relationships they never knew they had.
In June, we updated <a href="https://www.23andme.com/ancestry/relfinder/" target="_blank" rel="noopener noreferrer">Relative Finder</a> to make it easier to search for family connections. In just a few weeks 23andMe users have told us they’ve discovered more than 500 previously unknown relationships. People have linked up mostly with distant cousins, but a handful, like Neil, have found sisters, brothers, and even parents.
Neil, a 50 year-old Canadian activist who works to stop the spread of junk email, has seen his fair share of fake come-ons. But the email he got in May was different. It was a message from another 23andMe user showing that they were related through DNA.
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-9522" title="Neil Schwartzman" alt="" src="https://blog-api.23andme.com/wp-content/uploads/2011/08/neil-s.-200x300.jpg" width="200" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/08/neil-s.-200x300.jpg 200w, https://blogcms.23andme.com/wp-content/uploads/2011/08/neil-s.-768x1152.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2011/08/neil-s.-683x1024.jpg 683w, https://blogcms.23andme.com/wp-content/uploads/2011/08/neil-s.-587x880.jpg 587w, https://blogcms.23andme.com/wp-content/uploads/2011/08/neil-s.-787x1180.jpg 787w, https://blogcms.23andme.com/wp-content/uploads/2011/08/neil-s..jpg 900w" sizes="auto, (max-width: 200px) 100vw, 200px" />Neil Schwartzman found his sister, Jolie Pearl, on 23andMe
Stunned by the message he began corresponding with the woman. He had always wondered about his background and if he had relatives out there still living, because Neil was adopted when he was just 10 days old. He never knew his biological mother. Although he loved his adoptive parents, he always yearned to know more about his background. He made a few attempts to find his biological mother in the 1990s, but after getting nowhere, he gave up.
“Fast-forward to three years ago when I became a 23andMe member,” said Neil, executive director of the <a href="http://www.cauce.org/" target="_blank" rel="noopener noreferrer">Coalition Against Unsolicited Commercial Email</a>. “I’d some hope to find family somewhere, but really I had just turned 50 and I thought it’d be nice to know if I had any medical condition I should be concerned about.”
In early May of 2011 in California Jolie Pearl, a 53 year-old union organizer and mother of a 13 year-old daughter, had begun to play around with 23andMe’s Relative Finder for the first time.
“I hit the button to find your closest relative and this thing popped up, ‘a predicted sibling,’” Jolie said. “I thought maybe it was a mistake or that it was my half-brother.”
The next morning, Jolie went to her mother’s house and before going in she spoke briefly with her mom’s best friend.
“She matter-of-fact said to me, ‘yeah, you’re going to want to know about him,’” Jolie said.
Her mother’s best friend was one of only three other people who’d ever knew that Jolie had another brother who’d been given up for adoption.
At first Jolie felt anger, but then was overwhelmed by the thought that she had another younger brother. She said she instinctively felt protective toward him. When she talked to her mom, Jolie’s mother explained that indeed she’d given birth to a baby boy in 1960 and just 10 days after his birth she handed him over to another couple.
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-9530" title="Jolie and Sheila" alt="" src="https://blog-api.23andme.com/wp-content/uploads/2011/08/Jolie-and-Sheila-300x225.jpg" width="300" height="225" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/08/Jolie-and-Sheila-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/08/Jolie-and-Sheila.jpg 720w" sizes="auto, (max-width: 300px) 100vw, 300px" />Jolie Pearl with their mother
“It was the most difficult thing she’d done in her life,” Jolie said. “But she felt she didn’t have a choice. She couldn’t raise both of us.”
After talking to her mom Jolie sent the email to Neil.
After the initial exchange of emails, Neil, who had a scheduled business trip to California, arranged to meet his new found sister.
The two had dinner together, talking so long that they closed the restaurant down. The next day they went together to visit Neil and Jolie’s mother. Neil stopped to buy some flowers, asking his sister what kind their mother liked. They settled on a potted orchid because it was more lasting than cut flowers.
For Neil, who had anxiously anticipated the moment, meeting his mother and sister wasn’t what he’d expected. He’d anticipated a “massive emotional event.”
What he got instead was something more “nuanced, subtle, deep.”
It was the start of a relationship, he said.
At the end of the conversation, Neil’s mother grabbed his hand and held it for a long time.
“He told me that physical connection meant so much to him,” Jolie said. “He said it was like electric shocks going through his system.”
Finding her raised so many emotions, and Neil was struck by weighty questions about what makes you who you are. His niece noticed how both he and his sister had similar nervous hand gestures. Both are union activists.
“So this caused me to reflect on what the components of a person are,” Neil said. “There are morals and values imparted on me partially by my circumstances, by my adopted parents, my experience, all the things that life brings us. Then there’s this genetic thing.”
His mother is an artistic person and so is he. They’re both highly intelligent and opinionated.
“It’s fascinating to think that for all the free will we pride ourselves in having so many things may be predetermined,” he said. “It’s something to think about.”
The family has arranged to gather again.
“Obviously I never expected any of this when I signed up,” Jolie said. “It’s been the best thing. I want to thank 23andMe.”
Neil, too, expressed his gratitude, even citing 23andMe as an example of the miracle of modern science and the promise of the internet after receiving an award recently for the work he’s done to curb junk email.
“It’s beyond awesome,” said Neil. “I couldn’t be happier. I mean I’d really given up all hope. I can’t say how absolutely grateful I am to 23andMe for facilitating this.”
23andMe provides genetic testing services for informational purposes; your results may or may not help you to search for or identify relatives or family members.
What&#8217;s your story? If you&#8217;re willing to share, we want to hear. Drop us a line at <a href="mailto:stories@23andme.com">stories@23andme.com</a>.
&nbsp;

Stories From 23andMe: “Hey, Bro”

As we’ve mentioned here previously, science can be a slow process. Researchers spend a long time &#8212; sometimes upward of five years &#8212; gathering enough people with a particular disease to study, collecting samples and data from them, analyzing that data, and then publishing the results. Imagine if you had to gather, analyze, and repeat for each different condition or trait. And then to be more confident in each answer, you had to gather, analyze, and repeat again.
You&#8217;d be in the shower for a very long time.
<img loading="lazy" decoding="async" class="alignright wp-image-4013 size-medium" title="geneticresearch7" src="http://35.88.189.111/wp-content/uploads/2009/07/geneticresearch7-300x230.jpg" alt="" width="300" height="230" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearch7-300x230.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearch7.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Imagine instead an ever-growing group of people who’ve agreed, through an Institutional Review Board ethics-approved process, to contribute their genetic data in the pursuit of science. These generous people answer surveys regularly on everything from nose shape to drug response to whether they’ve had breast cancer. They do all of that quickly and conveniently, over the web.
We know that this system works. It’s already led to discoveries in the genetics of <a href="https://blog.23andme.com/articles/plos-genetics-23andme/" target="_blank" rel="noopener noreferrer">common traits</a> as well as Parkinson’s disease.
With our latest paper, “<a href="http://dx.plos.org/10.1371/journal.pone.0023473" target="_blank" rel="noopener noreferrer">Efficient Replication of Over 180 Genetic Associations with Self-Reported Medical Data</a>”, we provide the broadest demonstration yet of the power and versatility of 23andMe’s research platform. 

Published today in PLoS ONE, this paper investigates nearly 400 previously reported genetic associations for 50 different conditions in more than 20,000 individuals of European descent. We were able to replicate about 75% of the associations we expected to replicate, proving that we can obtain high quality findings from self-reported data. Our study also serves as the first independent replication for several associations.
Of the associations we did not replicate, it is likely that many factors are at play. Our database, which is population-based and therefore unselected for specific health conditions (with the exception of a few conditions for which we have research initiatives), currently has small numbers of cases for rarer diseases. Some conditions are also more challenging to diagnose or more difficult to self-report accurately. Both of these issues would hinder replication efforts. And although not something we would assume, it is also possible that some of the original findings were false positives.
A genetic association study on such a scale has never before been attempted, but 23andMe’s innovative <a href="https://www.23andme.com/research" target="_blank" rel="noopener noreferrer">research platform</a> makes investigating hundreds of genetic factors in dozens of different diseases straightforward. This study took only about a year from start to publish, and we can easily repeat it in the future.
As our database grows, we expect to be able to conduct even bigger studies and make an even greater impact. We recently launched an <a href="https://www.23andme.com/roots" target="_blank" rel="noopener noreferrer">initiative</a> to learn more about the genetics of disease in African Americans, a group that is extremely underrepresented in &#8212; and therefore currently benefiting the least from &#8212; genetic research. 23andMe’s recruitment and research platform is uniquely positioned to advance knowledge in this and other areas that are challenging to investigate using traditional research models.

23andMe replicates over 180 genetic associations

<img decoding="async" class="alignright size-medium wp-image-8663" title="BW_Ash" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/BW_Ash-300x204.jpg" alt="Ashley Gould with her father, Harvey" width="335" />

by Ashley Gould 
Vice President Corporate Development &amp; Chief Legal Officer, 23andMe


Linda Avey and Anne Wojcicki created 23andMe based on a number of visions. They described one of these to me in early 2007, capturing my imagination and playing a large role in my decision to become a member of the 23andMe team. This vision was of a web-based, patient-driven method of conducting research that removes physical boundaries and accelerates the search for answers.
The company has already made this vision a reality by launching <a href="https://www.23andme.com/pd" target="_blank" rel="noopener noreferrer">Parkinson’s</a> and <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener noreferrer">Sarcoma</a> Communities with participant data streaming in daily from dedicated surveys.
I am privileged and excited to announce that 23andMe is launching a <a href="https://www.23andme.com/mpn/" target="_blank" rel="noopener noreferrer">Myeloproliferative Neoplasms (MPN) Community</a> for patients with polycythemia vera (PV), essential thrombocythemia (ET), myelofibrosis (primary, post-PV and post-ET myelofibrosis), chronic myelogenous leukemia (CML), mastocytosis, and hypereosinophilic syndrome (HES) / related eosinophil disorders.
This group of rare blood cancers affects production of blood cells in the bone marrow and has no known cure except for blood or marrow transplantation.
My father, Harvey Gould, is now in his 11th  year living with a diagnosis of primary myelofibrosis (PMF), a type of MPN in which the bone marrow makes abnormal blood cells and is replaced by increasing amounts of fibrous scar tissue over time. He is one of a relatively small group of PMF patients in the United States.  
A <a href="https://www.ncbi.nlm.nih.gov/pubmed/10331505" target="_blank" rel="noopener noreferrer">study by the Mayo Clinic</a> reported an incidence of 1.46 per 100,000 persons (1), and a prevalence of 30,000 patients nationwide. It’s also likely that some individuals don’t even know they have the disease because only highly trained specialists can diagnose it. The challenging nature of the disease, low incidence rate, and perhaps under-familiarity with the disease may partly explain why significant resources have not been applied towards identifying both inherited and acquired causes of myelofibrosis or towards development of effective therapies for this chronic and debilitating disease.
In 2005, several groups identified a mutation in the gene JAK2, referred to as JAK2 V617F in several MPNs. It is found in approximately 95% of patients with PV, and 50-60% of patients with ET and PMF.   The JAK2 protein is a signaling protein within cells; when JAK2 is mutated, it contributes to increased signaling in cells and abnormal cell proliferation, a hallmark of these blood cancers.   A number of clinical trials are now in progress with JAK inhibitors targeting the JAK2 protein and related signaling abnormalities in cells.  
These trials, now mostly in patients with myelofibrosis, are listed at <a href="http://www.clinicaltrials.gov/" target="_blank" rel="noopener noreferrer">www.clinicaltrials.gov</a>  (search term &#8220;myelofibrosis&#8221; and &#8220;JAK2&#8221;). These investigational drugs have demonstrated substantial activity shrinking patient spleen size and improving symptoms. These JAK inhibitors have the potential to be the first major class of drugs approved for myelofibrosis. We’re looking to gather valuable information that might be helpful to researchers who are studying these diseases and inspire others to join in.

<img loading="lazy" decoding="async" class="alignleft size-medium wp-image-8667" style="margin-top: 5px;" title="color_Ash" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/color_Ash-300x195.jpg" alt="Ashley and Harvey Gould at Ashley's wedding" width="335" height="218" />

I know from following my father’s struggles that treating myelofibrosis is more of an art than a science, even with highly skilled physicians involved. For more than four years, the drug imatinib (Gleevec ®) seemed to be helping, and then it simply stopped working. Why did it work at all when it does not work for most myelofibrosis patients? Why did it suddenly stop being effective?


A few years ago, while in Ireland, my father collapsed when his hemoglobin suddenly dropped from 13.4 g/dL (almost normal) to 5.4 g/dL (a crisis level). He received twelve units of blood on seven separate days over the course of three weeks, plus another two units after he was able to return to the States. This spurred my father to write to the Taoiseach (Irish Prime Minister), seeking recognition that he’d become a full-blooded Irishman &#8212; his Jewish heritage notwithstanding. (See his <a href="https://blog-api.23andme.com/wp-content/uploads/2011/03/Letter-to-Taoiseach-whiteout.pdf" target="_blank" rel="noopener noreferrer">letter to the Taoiseach</a>, <a href="https://blog-api.23andme.com/wp-content/uploads/2011/03/Letters-to-HLG-whiteout.pdf" target="_blank" rel="noopener noreferrer">correspondence from various offices</a> in the Irish government, and <a href="https://blog-api.23andme.com/wp-content/uploads/2011/03/Reply-from-Tanaiste-whiteout.pdf" target="_blank" rel="noopener noreferrer">the final verdict</a> from the Tanaiste).


While my father’s gift for humor has helped us all cope, we still have many unanswered questions stemming from his experience.   If we knew more about the genetic components of the disease, would researchers be able to find causes and cures? Could doctors better anticipate the progression of the disease? Could doctors better tailor drugs to their patients? Responses to these questions remain unknown for many of the myeloproliferative neoplasms. It’s our search for answers that has lead to the formation of 23andMe’s MPN Community.
We are honored to welcome Drs. Jason Gotlib and James Zehnder from the Stanford University School of Medicine and Stanford Cancer Center, as expert advisors and research collaborators in this effort. Dr. Gotlib brings his experience in clinical hematology and leadership in numerous phase I/II trials of novel therapies for MPNs. Dr. Zehnder, Professor in the Division of Hematology and Department of Pathology, contributes expertise in the realm of MPN molecular diagnostics. Their complementary skill sets will be an asset to the 23andMe program and MPN research efforts.
W
atch the video below to learn more about my father’s story and help by joining our research community.
<iframe loading="lazy" title="Join 23andMe&#039;s Myeloproliferative Neoplasms Research Community" width="500" height="375" src="https://www.youtube.com/embed/r-Yjl73EJHw?feature=oembed" frameborder="0" allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share" referrerpolicy="strict-origin-when-cross-origin" allowfullscreen></iframe>
Please note: 23andMe filmed this video when we planned to launch a more narrowly focused Myelofibrosis Community. Based upon valuable input from our scientific advisory team, 23andMe has since decided to expand the scope of our community to include all myeloproliferative neoplasms, including myelofibrosis (primary, post-PV, and post-ET myelofibrosis), polycythemia vera (PV), essential thrombocythemia (ET), CML, mastocytosis, as well as hypereosinophilic syndrome (HES) and related eosinophil disorders. 


Our initial goal is to enroll approximately 1,000 patients diagnosed with a spectrum of myeloproliferative neoplasms who consent to participate in our research and who agree to complete surveys about their experiences. Patients will be asked to provide a sample of saliva (kits send to the patient&#8217;s address) to test their DNA for potential inherited predispositions to MPNs, and to assess whether the DNA results correlate with certain survey findings.  As our <a href="https://www.23andme.com/mpn/" target="_blank" rel="noopener noreferrer">MPN Community page</a>  describes in more detail, participants will receive complimentary access to 23andMe’s full Personal Genome Service ®. If you are someone who has been diagnosed with a myeloproliferative neoplasm, follow this link to learn more about joining our MPN Research Community and <a href="https://www.23andme.com/mpn" target="_blank" rel="noopener noreferrer">sign up</a>.
If you know someone who you think might meet the criteria, please share this information with them.
If you are not a patient with myelofibrosis or other MPN diagnosis, you can still help by <a href="https://www.23andme.com/store" target="_blank" rel="noopener noreferrer">becoming a 23andMe customer</a> and opting in to participate in our <a href="https://www.23andme.com/research" target="_blank" rel="noopener noreferrer">23andWe</a> research program. Having genetic information for generally healthy individuals plays an important role in research as well. Everyone has the opportunity to participate and support research that can lead to new treatments and possible cures.
  
(1) Mesa R, Silverstein M, Jacobson, Wollan P, Tefferi A.   Population-based incidence and survival figures in essential thrombocythemia and agnogenic myeloid metaplasia: an Olmsted county study, 1976-1995.
Gleevec ® is the trademark of Novartis Pharmaceuticals Corporation. 23andMe and Personal Genome Service are trademarks of 23andMe.

My Father, Myelofibrosis, and Me

A recent article in Wired Magazine highlighted how the genome revolution has been skipping most people in the world: 96 percent of participants in recent genomic studies trace most of their ancestry to Europe.
<h2>Why?</h2>
Statistical analysis is more straightforward in groups tracing ancestry to just one continental region, so fewer individuals are needed to make discoveries. Although African Americans typically trace about 20% of their ancestry to Europe, studies to verify previous findings in this population have not been done for many diseases. Our understanding of how DNA influences disease risk in people with primarily non-European ancestry has much catching up to do.
23andMe hopes to bridge this growing divide through Roots into the Future, a research initiative addressing the needs of the African American community.
<h2>Accelerate Research</h2>
Our partners in the research initiative include Dr. Henry Louis Gates and the W.E.B. Du Bois Institute at Harvard, as well as advisors from academia, industry, and the 23andMe community. To rapidly accelerate genetic research in the African American community, we aim to enroll 10,000 participants who self-identify as African American, Black, or African.
Roots into the Future will help determine how genetic factors contribute to disease development in this population. Which genetic associations identified in Europeans also apply to African Americans? Can we discover new genetic markers linked to conditions of particular relevance to the African American community, such as diabetes, prostate cancer, and heart disease?
The initiative aligns with 23andMe’s broader mission of empowering individuals to understand their genetic data. And 23andMe’s unique web-based research platform can accelerate critical research in this community.
<h2>Participation</h2>
Project participants will receive free access to their personal genetic data used for the research and health and ancestry interpretations of the data. As the project progresses, participants can expect additional relevant reports and features.
Roots into the Future will launch at the end of July at the National Urban League&#8217;s annual conference in Boston.
To learn more about the project or to sign up to be notified when registration becomes more broadly available, <a href="https://www.23andme.com/roots/">go to our Roots Into the Future page</a>.
<iframe loading="lazy" title="Roots into the Future" width="500" height="281" src="https://www.youtube.com/embed/kTYFNwxl3Pw?feature=oembed" frameborder="0" allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share" referrerpolicy="strict-origin-when-cross-origin" allowfullscreen></iframe>

A New 23andMe Research Initiative For African Americans

Last summer, a <a href="http://www.sciencemag.org/content/early/2011/07/20/science.1190532" target="_blank" rel="noopener">study</a> published in the journal Science on the genetics of human longevity made a splash when the authors claimed that they had identified a genetic signature that could predict with 77% accuracy whether someone would live past 100. The bold findings immediately came under fire from other geneticists and scientists who read the paper and found the study&#8217;s methodological rigor lacking. One of 23andMe&#8217;s own researchers David Hinds published a <a href="https://blog.23andme.com/articles/snpwatch-uncertainty-surrounds-longevity-gwas/" target="_blank" rel="noopener">detailed critique</a> on this blog soon after, accompanied by analyses done using 23andMe&#8217;s own database.
After more than a year, the authors have <a href="http://www.sciencemag.org/content/333/6041/404.1" target="_blank" rel="noopener">formally retracted</a> the longevity study from the scientific record. An independent lab had redone the experiment and the analyses to eliminate the major concerns brought up by the study&#8217;s critics, but Science decided that the resubmitted work no longer met its standards for genome-wide association studies.
Read more at <a href="https://www.wired.com/wiredscience/2011/07/longevity-genetics-study-retracted-from-science/" target="_blank" rel="noopener">Genetic Future</a>, <a href="http://retractionwatch.wordpress.com/2011/07/21/sebastiani-group-retracts-genetics-of-aging-study-from-science/" target="_blank" rel="noopener">Retraction Watch</a>, or <a href="https://www.nature.com/news/2011/110721/full/news.2011.429.html" target="_blank" rel="noopener">Nature News</a>.

Controversial Longevity Paper Formally Retracted

<img loading="lazy" decoding="async" class="alignright wp-image-1902 size-medium" title="brain" src="http://35.88.189.111/wp-content/uploads/2008/11/alzheimers-300x214.jpg" alt="" width="300" height="214" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/11/alzheimers-300x214.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2008/11/alzheimers.jpg 435w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Progressive supranuclear palsy (PSP) is a rare movement disorder caused by damage to certain areas of the brain. People with PSP experience increasing difficulty balancing and walking and suffer from frequent falls, in addition to varying vision, mood, and cognitive problems. PSP is similar to Parkinson’s disease but is much rarer &#8212; about 20,000 people in the United States are currently diagnosed with PSP.
As with Parkinson’s disease, the development of PSP is complex and influenced by many genetic and environmental factors. One genetic factor in particular, a variant in the MAPT gene, has been repeatedly linked to the disease. The MAPT gene codes for a protein called tau that is found in abnormally high amounts in the neurons of people with PSP. Scientists believe there are multiple factors interacting in this region of the genome that affect PSP development, but little is known about this interaction and how other genetic variation might contribute to PSP risk.
To discover common genetic variants potentially influencing risk for this disease, an international team of researchers led by Gunter HÃ¶glinger of Philipps-Universitat in Germany studied more than 2,000 individuals of European descent diagnosed with PSP, comparing their DNA to that of nearly 7,000 healthy European individuals. The results, published last month in the journal <a href="https://www.nature.com/ng/journal/v43/n7/abs/ng.859.html" target="_blank" rel="noopener">Nature Genetics</a>, reported several SNPs associated with the disease.
One of the SNPs reported by HÃ¶glinger&#8217;s team is located in MAPT and is closely linked to the already well-established variant for PSP risk. In this study, each copy of the G version of this SNP was associated with about 5.5 times lower odds of the disease. The researchers suggest that much of this effect is due to the SNP’s strong correlation with the previously known MAPT variant.
In addition to the strong association at MAPT, the researchers identified three other genetic variants with smaller effects on PSP risk located in the STX6, EIF2AK3, and MOBP genes. These genes have intriguing connections to PSP and other neurodegenerative diseases but further research is needed to determine the exact roles they play in the development of these conditions.

Genetic Variants Linked to Progressive Supranuclear Palsy

<img loading="lazy" decoding="async" class="alignright wp-image-6398 size-medium" title="sarcoma-large" src="http://35.88.189.111/wp-content/uploads/2010/04/sarcoma-large1-300x245.jpg" alt="Sarcoma Research logo" width="300" height="245" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/04/sarcoma-large1-300x245.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/04/sarcoma-large1.jpg 315w" sizes="auto, (max-width: 300px) 100vw, 300px" />
[Update: View a video recap of Sarcoma Community Night at <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener">https://www.23andme.com/sarcoma/</a>]
Three.
That was the average number of patients enrolled in studies for sarcoma four years ago when Nathalie Criou, a sarcoma cancer survivor and founder of <a href="http://www.beatsarcoma.org/" target="_blank" rel="noopener">Beat Sarcoma</a>, looked around for new information about her disease.
Criou’s story, told at 23andMe’s headquarters for Sarcoma Community Night on a rainy Tuesday night last week, was a sobering reminder of how challenging research has been into this rare form of cancer. Earlier in the evening, Stanford oncologist and researcher Dr. Kristen Ganjoo told the audience about promising sarcoma treatments, but she also explained that even now clinical trials to approve new drugs for sarcoma routinely shut down simply because they can’t find enough people to sign up.
To the almost two dozen people affected by sarcoma gathered that night, these stories were all too familiar. Sarcoma is rare &#8212; only about 12,000 people are diagnosed with it in the United States each year &#8212; and extremely diverse, with about 50 distinct subtypes. Each type often progresses differently and can require individualized approaches to therapy, making developing effective treatments for sarcomas very difficult.
“You raise your hand and say ‘does anyone else have this?’ and no one else raises their hand,” explained Carole, who has a rare sub-type of sarcoma.
But what if there was a way to bring together sarcoma patients from far and wide and involve them in research into their disease? For Criou, an advocate and former patient, hearing about 23andMe’s <a href="https://www.23andme.com/sarcoma/" target="_blank" rel="noopener">Sarcoma research initiative</a> offered something new.
“We’re talking about a huge difference &#8212; we’re talking three [people], or 550,” Criou explained, comparing her numbers from four years ago to the current number of individuals enrolled in 23andMe’s Sarcoma research community. “And it’s 550 people that can come back, that more than one question can be sent to.” But Criou also sees this initiative having a much broader impact.
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“I really see this as a great platform for other rare cancers, other rare diseases, and in fact, any disease &#8212; it doesn’t have to be rare,” said Criou. “If we can show that a community like sarcoma &#8212; which is probably one of the toughest challenges from a research perspective &#8212; can use that tool&#8230; hopefully it will create a trend for sarcoma, and for other diseases.”
This is the hope for many who have joined 23andMe’s Sarcoma research initiative. While it still has a lot to prove, the initiative has brought together a community of patients who for years felt like they’d been abandoned by researchers and funders.
“When I was first diagnosed, the message I got was ‘there’s nothing anyone can do and you’re in big, big trouble,’” said Robin, a sarcoma survivor. “That was seven years ago and I’m still here. I feel really grateful, actually, that a community is pulling together to try and take a look at this.”
Even though Robin is currently sarcoma-free, she’s joining because she knows how rare sarcoma is and the challenges it presents to researchers. “If someone is willing to study us, I’m more than happy to be involved. It’s such a rare thing that there’s probably not enough money in it to have motivated people to study it in the past, and very little is known about it. I’m a survivor, and I’m here to participate and see what I can do.”
<img decoding="async" class="alignleft size-medium wp-image-9388" title="sarcoma_alliance" src="https://blog-api.23andme.com/wp-content/uploads/2011/07/sarcoma_alliance-217x300.jpg" alt="" width="120" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/07/sarcoma_alliance-217x300.jpg 217w, https://blogcms.23andme.com/wp-content/uploads/2011/07/sarcoma_alliance.jpg 225w" sizes="(max-width: 217px) 100vw, 217px" />
And the initiative doesn’t just offer hope for new research, it also allows interaction between patients and researchers. Indeed, after all of the panelists had spoken the room came alive with questions. Sometimes, the answers came not just from the expert panel, which included UCSF cancer surgeon Dr. Eric Nakakura and Arthur Beckert of the <a href="http://www.sarcomaalliance.org/main.shtml" target="_blank" rel="noopener">Sarcoma Alliance</a> in addition to Criou and Dr. Ganjoo, but from others in the audience. People asked about the latest research, gave tips on where to find clinical trials, and brainstormed creative ways to leverage this new sarcoma community.
It was perhaps this last activity that best communicated the power and potential of 23andMe’s research community. Everyone was engaged by the possibility of enabling individuals to contribute directly to research &#8212; not just once, but continuously, in an evolving, collaborative, and exploratory process.
<img decoding="async" style="margin-top: 5px;" src="https://lh5.googleusercontent.com/-j_CwEt8qQQFptWDmv1p49_soby0YSFsRKLJW1DZvGmaGeysr-uf7HkpnFiu5iJJZzhSX1VXtPgJw_jQqj2TzB1cLlmKN3KpOW1w2Ko509_Gn7pbSrE" alt="" width="298px" height="193px" />
In her comments, 23andMe co-founder and CEO Anne Wojcicki emphasized the collaborative nature of 23andMe’s research communities. “The whole purpose of 23andMe is to give everybody who has something they’re passionate about a platform, and use what’s fundamentally their own to make a difference in research and learn things about themselves that are going to be meaningful. It’s about ‘how can we all come together and do something so it’s going to change things for ourselves, or change it for our children, or others out there?’ Our goal is to really be that partnership between you and the entire research world, so we can move things forward much faster.”
Wojcicki also acknowledged the non-traditional approach 23andMe is taking. “We want to do things that are ultimately going to help researchers, but at the same time we’re definitely shaking things up a little bit!”
Sarcoma patients and survivors weren’t the only ones who appreciated this vision. As Brian, a family friend of a woman diagnosed with uterine leiomyosarcoma, put it, “you don’t have to be part of some subset or some disease &#8212; this type of research can be for everybody.”
“It’s exactly what I’ve been hoping for for ten years,” said Suzy, a 10-year leiomyosarcoma survivor. “I’m glad that there’s more community and more people coming together because there’s a lot of information to be shared. I’m hopeful that with strength in numbers, if we can get people to sign up and we can get information&#8230; for people like us, with rare cancers, this is what we need.”
To learn more about 23andMe’s Sarcoma research community or to join, please visit <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener">https://www.23andme.com/sarcoma</a>. A video recap of Sarcoma Community Night is also available at that link.

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