At her darkest moment, feeling alone and drained by a daunting disease, Jackie
<div id="attachment_24165" style="width: 210px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-24165" class="size-full wp-image-24165" src="https://blog-api.23andme.com/wp-content/uploads/2016/08/Jackie-Z.jpg" alt="Jackie Zimmerman" width="200" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/08/Jackie-Z.jpg 200w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Jackie-Z-150x150.jpg 150w" sizes="auto, (max-width: 200px) 100vw, 200px" />Jackie Zimmerman</div>
Zimmerman began to write.
“This is when things began to change for me,” said Jackie.
As she blogged about the isolation of being diagnosed with ulcerative colitis and having her large intestine removed, Jackie began to hear from other women who like her were facing the same sense of isolation and fear.
“I realized that I was not alone,” she said.
And she learned something else.
“While I couldn’t control my illness, I could control my attitude,” Jackie said.
<h6>Forming Girls with Guts</h6>
She drew energy and support from a caring community of other women who <img loading="lazy" decoding="async" class="alignright size-full wp-image-21214" src="https://blog-api.23andme.com/wp-content/uploads/2014/07/IBD-IMage-.jpg" alt="IBD IMage" width="240" height="160" />suffered from ulcerative colitis or other Inflammatory Bowel Diseases. She felt that there truly is power in numbers. And it was that lesson that ultimately helped her and a core group of other bloggers to come together to create<a href="http://www.girlswithguts.org/"> Girls With Guts</a>, a nonprofit that supports girls and women with some form of Inflammatory Bowel Disease, including Crohn’s and ulcerative colitis.
23andMe first heard about Jackie when we launched a new<a href="https://www.23andme.com/IBD/"> study on IBD</a> in collaboration with Pfizer Inc. The study will look at the role genetics and environment plays in the development and progression of IBD, which affects more than 1.4 million people in the United States alone.
We’re very close to completing enrollment in the 10,000 person study – stay tuned to hear more about it. As we approached that milestone it prompted us to check in on Jackie.
First diagnosed with ulcerative colitis in 2009, Jackie had her large intestine removed about a year later. And it was during this difficult time that she started writing about her experience on her blog Blood, Poop and Tears. She was one of<a href="https://blog.23andme.com/articles/gut-check-a-short-list-of-ibd-blogs"> several bloggers</a> who used humor and candor to connect with their audience.
Then during a weekend get together with other women IBD bloggers, the idea for Girls with Guts was born.
<h6>Finding and Offering Support</h6>
This core group of five women realized that there was a large group of women all around the world, who craved connection, and needed support, as well as a safe place to discuss their struggles with IBD and how it might play into existing body image issues. She wanted to help other women with the condition feel not just confident but beautiful too.
The website offered not just resources for those with IBD, it also offered people with a place to share stories, and offer support. The site is particularly important for those can’t leave home because of their condition. But Jackie also wanted to bring people together for real.
Having volunteered at a summer camp for kids with IBD, Jackie thought why not create something similar for adults. The summer camp helped encourage young people with IBD to get out, be a little adventurous – not always easy to do with the condition – and connect with others.
“It was such a warm and welcoming place and I wanted to recreate that for adults,” she said.
And that’s where the idea for Girls With Guts Retreat came from. Launched in 2013, the retreat has steadily grown each year, bringing together a few dozen women with IBD.
“The in-person live connection is a game changer,” she said.
“They create strong relationships.”
Beyond the relationships Jackie is trying to forge and the support, she wants to change how people with IBD think about the condition. She knows from experience that when a person is newly diagnosed all they hear are the negatives. It’s understandable, but it can also be scary and depressing. It doesn’t have to be that way. By talking about IBD, by connecting people with the condition, Jackie believes she can change attitudes and give hope.
“I want people to know that even with IBD they can still be happy and healthy,” she said.

23andMe Blog

23andMe Blog Team

A Girl with Guts

Editor&#8217;s note: 23andMe is now enrolling for a new genetic study on depression and biopolar disorder. Check out the <a href="https://blog.23andme.com/23andme-research/23andme-launches-new-genetic-study-depression-bipolar-disorder/">blog post</a> about the study or see more about the study <a href="https://www.23andme.com/depression-bipolar/">here</a>. 
In a new study, scientists have found genetic markers associated with depression in people of European descent.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-22305" src="https://blog-api.23andme.com/wp-content/uploads/2015/03/teardrop-300x234.jpg" alt="Pencil drawing eye" width="300" height="234" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/03/teardrop-300x234.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/03/teardrop-768x600.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/03/teardrop-1024x800.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2015/03/teardrop-880x687.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2015/03/teardrop-1180x921.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />


In what is by far the <a href="https://www.nature.com/articles/ng.3623.epdf?shared_access_token=2L701P0aoTugcpIZV_UxDtRgN0jAjWel9jnR3ZoTv0PP-e6MaKfwdoFYRj8g9D1xDb6bJ1uGA1UjyIKokNVDLTnRuKcWMhh79nIxx72yX9SVmCk7BF6wsPtOYEwU_jusesdKi0iT9c3E5z3SwC0sXWsNXiGGmHdldHOLvCJ7EvE%3D">largest study</a> of its kind focused on major depressive disorder, researchers from Pfizer, Massachusetts General Hospital and 23andMe identified 17 single nucleotide polymorphisms in 15 genetic loci significantly associated with depression among people of European ancestry.
The study may lead to better understanding of the biology of the condition. Major depressive disorder is characterized by mood changes, sleep disruption, fatigue and loss of appetite, and is one of the leading causes of disability and is estimated to affect more than<a href="https://www.nature.com/news/mental-health-a-world-of-depression-1.16318"> 350 million</a> people worldwide.
The study drew on massive amounts of data from 23andMe customers who’ve consented to research and completed online surveys about depression.


“These studies provide evidence for large-scale consumer genomic data as a powerful and efficient alternative  complement to data from traditional means of ascertainment for neuropsychiatric disease genomics,” according to the study. “If one reasonable strategy adopted by that study is to develop more precise or refined phenotypes, another is to efficiently identify much larger cohorts for study despite less intensive phenotyping.”


Although researchers have long known that genetics plays an important role in the development of depression, attempts in the past to study the genetics behind the disorder have failed to produce results. One<a href="https://www.ncbi.nlm.nih.gov/pubmed/22472876"> study</a> in 2013 by the Psychiatric Genomics Consortium (PGC) looked at data from more than 17,000 people with depression but couldn’t detect any genetic hits. For a time researchers thought the studies were being confounded by how major depressive disorders were being diagnosed – by basically lumping different forms of depression together – or that the studies were undersized.
Depression is a heterogeneous disease, with many genes contributing to the condition. Environmental influences also play a role in its development.
Jonathan Flint, a geneticist at the University of Oxford and a key researcher in the PGC study, concluded that he either needed more data from more individuals to find a signal or a more select group of individuals to study, according to an <a href="https://www.nature.com/news/first-robust-genetic-links-to-depression-emerge-1.17979">article</a> in the journal Nature. Flint took the latter strategy studying data from about 10,000 individuals in China, a cohort that was relatively homogenous and had the most severe depression. Last year he and other researchers published their findings, <a href="https://www.nature.com/nature/journal/v523/n7562/full/nature14659.html">uncovering two variants</a> associated with the condition among people of Han Chinese ancestry, but those variants do not appear to influence the condition in people of European descent.


Another approach would be to find a much larger cohort of individuals and that’s what this latest study has done by tapping into 23andMe’s data from customers. The study includes more than 450,000 customers, who consented to participate in research, about 120,000 of whom reported being diagnosed with depression.


By using 23andMe’s online method and collecting data from a very large group of individuals, the researchers were able to gather enough data to power their study. The sheer volume of data – the number of people, the amount of both phenotypic and genotypic data – allowed the scientists to see signals that they may not have seen otherwise.
The variant most strongly associated with depression was found in a gene region involved with brain function.
The most statistically significant variant is located between two genes that are expressed in the brain, MEF2C and TMEM161B. MEF2C is involved in the regulation of synapses and studies have associated variants in this gene with epilepsy and intellectual disability.


The remainder of the single nucleotide polymorphisms found to reach genome-wide significance for association with depression were in 13 other genes or gene regions. Many of these are expressed in the central nervous system for neurodevelopment or have been identified in other genome-wide association studies to be related to different psychiatric traits.
All of these variants are different than the two variants associated with depression in people of Han Chinese ancestry, but the variants found in both studies may help in the ongoing effort to understand the underlying biology of depression.
Researchers hope these new findings will offer a better understanding of the biology of the disease and could help in the search for the right treatments for depression.
This study can be found in the journal <a href="https://www.nature.com/ng/journal/v48/n9/full/ng.3623.html" target="_blank" rel="noopener noreferrer">Nature Genetics.</a>

New genetic variants linked to depression

After four days in Berlin attending the massive annual meeting of the<img loading="lazy" decoding="async" class="alignright size-medium wp-image-22635" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg" alt="Brain Logo" width="287" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg 287w, https://blogcms.23andme.com/wp-content/uploads/2015/06/Brain-Logo.jpg 438w" sizes="auto, (max-width: 287px) 100vw, 287px" />back hopeful for the future.


The challenge for Paul is distilling the most important takeaways from a meeting that included more than 5,500 participants, 2,111 scientific abstracts and hundreds of presentations.
This year the meeting included news of promising clinical trials, innovative technology for monitoring symptoms, and new findings in the hunt for the genetics behind the disease.


“Since this was a meeting primarily intended for specialists and others caring for individuals with Parkinson’s and other movement disorders there was a lot of focus on new therapies including non-drug related ones,” said Paul.
There was also a lot of new data on the importance of nonmotor function symptoms associated with Parkinson’s, including a sobering study that showed that half of all Parkinson’s patients<a href="https://www.medscape.com/viewarticle/865758"> suffer anxiety</a> which in turn can lead to debilitating depression.
For both those treating and studying the disease understanding these nonmotor symptoms is <img loading="lazy" decoding="async" class="alignright size-medium wp-image-23733" src="https://blog-api.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-244x300.jpg" alt="PD Infographic Top" width="244" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-244x300.jpg 244w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-768x946.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-831x1024.jpg 831w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-714x880.jpg 714w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-958x1180.jpg 958w, https://blogcms.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top.jpg 1010w" sizes="auto, (max-width: 244px) 100vw, 244px" />important not just to maintain a patient’s health but also for understanding whether these seemingly unrelated symptoms might shed new light on the progression of the disease or even offer new ways of making an earlier diagnosis.
But patients themselves often do not draw attention to these symptoms – which might include such things as insomnia, difficulty with regular bowel movements and sexual dysfunction – because they believe they are unimportant for treating Parkinson’s.
Paul was particularly interested in the work presented around sleep disorders for individuals with Parkinson’s, particularly related to something called<a href="http://brain.oxfordjournals.org/content/early/2016/06/11/brain.aww124.long"> REM sleep behavioral disorder</a> or RBD. It’s a common symptom among Parkinson’s patients that includes vigorous movement during REM sleep. This can sometimes be dangerous for both the patient and their partner. It’s also an early sign of the disease and, similar to Parkinson’s is believed to be related to misfolding and clumping of alpha-synuclein in the brain.


“It’s of interest in terms of Parkinson’s research because it appears to be a precursor to a number of alpha-synucleinopathies,” Paul said.


RBD occurs in about half of individuals with Parkinson’s often, but not always preceding PD diagnosis. Looking at many of these non-motor symptoms collectively may help researchers identify people who are at risk for developing Parkinson’s, Paul said. The challenge, at least with RBD, is that formal diagnosis, currently requires overnight observation in a sleep clinic, an option that is impractical for many Parkinson’s patients.
Another highlight of the meeting in Berlin was new research around mutations in the GBA gene, carrying two copies of which is associated with developing Gaucher’s disease, an inherited disorder that causes fatty substances to accumulate in cells.
This rare condition was first linked to Parkinson’s in 2008. The same mutations that put someone at risk for Gaucher’s are also associated with a higher risk for developing Parkinson’s. Unlike Gaucher’s, carrying one mutant version of the gene is sufficient to increase the risk of PD. Researchers are looking at parallels in the biology of the diseases. In Gaucher’s disease the genetic mutations lower the level and activity of an enzyme that helps break down proteins and lipids. Lower levels of this same enzyme may allow for the accumulation of alpha-synuclein in the brain.
There’s much more, but for Paul what was most compelling was news that there is research from a number of groups that has identified compounds that target that key enzyme and may in turn be useful for treating both Gaucher’s and Parkinson’s.
“There is also reason to believe that this mechanism might work on regular Parkinson’s not just those cases that are due to GBA mutations,” said Paul.


But as yet none of the compounds are in the clinical testing phase.
That said, the meeting in Berlin did include information on several different promising treatments that are in either the clinical trials phase or beyond. Some of those involved several new treatments for patients who have tremors, including the use of<a href="http://journals.lww.com/neurotodayonline/blog/NeurologyTodayConferenceReportersMDSInternationalCongress/Pages/post.aspx?PostID=13"> focused ultrasound</a>. There is also progress in testing of the drug<a href="https://www.michaeljfox.org/foundation/news-detail.php?record-pace-of-recruitment-speeds-isradipine-trial"> isradipine</a>, a drug used for treating high blood pressure, use of which has been shown to be associated with a lower incidence of Parkinson’s. The drug is now in a phase three clinical trial, according to Paul.
Finally, he noted that the Berlin meeting also featured several studies showing the steady progress around exploration of Deep Brain Stimulation as a way to treat many of the motor symptoms of Parkinson’s.


“In one clinical study DBS appeared to have better outcomes than ‘best medical treatment’,” Paul said.

International Parkinson’s Meeting News

For his big birthday Adam Keim wrote out a to-do list titled – “40 for 40.”<img loading="lazy" decoding="async" class="alignright size-medium wp-image-24145" src="https://blog-api.23andme.com/wp-content/uploads/2016/07/Adam-quote-300x300.jpg" alt="Adam quote" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/07/Adam-quote-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2016/07/Adam-quote-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2016/07/Adam-quote-768x768.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/07/Adam-quote-880x880.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2016/07/Adam-quote-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2016/07/Adam-quote-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2016/07/Adam-quote-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2016/07/Adam-quote-980x980.jpg 980w, https://blogcms.23andme.com/wp-content/uploads/2016/07/Adam-quote.jpg 1000w" sizes="auto, (max-width: 300px) 100vw, 300px" />


It included little things like walking across the Golden Gate Bridge, volunteering for a day, and getting a massage.
“These are mostly things I have never done, things I have needed to do, and a few that I haven’t done in a long time,” Adam wrote across the top.


These were modest endeavors for a man facing his 40s, who wanted to spend a little time savoring what’s around him, take better care of himself, and maybe have some fun. But if you saw the list, you’d wonder why it took Adam until number 27 to include the one thing that he was always curious about – start researching who his biological family was.
“I always knew I was adopted but I never did anything about finding my natural parents,” he said.


Adam knew that he was born in San Diego, he was adopted when he was 4-months old, and that the foster parents called him Mike.
“I really knew nothing more,” Adam said.


Then Adam’s partner, Steve, gave him a 23andMe kit for Christmas. Little did Adam know, it would open up an entirely new personal history.

<h6>Starting from Scratch</h6>

From his 23andMe results, Adam found many DNA relatives including a few second and third cousins who sent him messages. They exchanged messages, but quickly realized it would be hard to determine the source of their DNA connection because of Adam being adopted.


&#8220;I had nothing to offer them,” he said. “No surnames. No history. Nothing at all.&#8221;


When Adam had just about given up on 23andMe and his search for his birth family, a bizarre string of messages changed his life.

<div style="float: right; text-align: justified; width: 350px; background-color: #eee; padding: 15px; margin-left: 10px;">Finding Lisa
Authorities believe Lisa was kidnapped as a toddler and held by a man until she was five. The man who took her was convicted of murder for killing a woman and sentenced to prison. He later died in prison without revealing where Lisa came from.

Now 30 years later, detectives from the Crimes Against Children Detail of the San Bernardino County Sheriff’s Department are working with genetic genealogist and DNA expert Barbara Rae-Venter to find Lisa’s biological family. Lisa, whose name is being withheld to protect her current identity, was too young at the time of her abduction to know or give any information about her biological parents or where she is from. Authorities are not even sure in which state or country she was abducted; her abductor had been in Quebec, Canada and all over the United States from the New England states to California.

They are not even sure when Lisa was born, but estimate it was about 1981, based on Lisa’s dental development at the time she was recovered. They also believe she was younger than two when she was abducted.For more information on the case or to learn how to help, email Barbara Rae-Venter at GenealogyConsult@gmail.com. Barbara is a retired patent attorney who specialized in biotechnology. In addition to a J.D., Barbara has a Ph.D. in biology, and before attending law school, taught biochemistry and endocrinology at the University of Texas Medical Branch in Galveston,Texas.

</div>
A profile had appeared on his list of DNA relatives that wasn’t there previously. It listed Lisa as a likely second or third cousin.
He started receiving messages from a woman named Barbara Rae-Venter who was working with Lisa, and she asked Adam to “share genomes”.


She told him she was a volunteer with DNAadoption, and asked him to send his response to the DNAadoption website query line and that she’d in turn be able to put him in touch with a volunteers who could help him in his search.
<h6>
 More about Lisa</h6>

Even after sharing genomes, Adam was suspicious about the strange messages. He thought it might be a scam or ploy to get money from him. So after not replying to some of her messages, he got a long message from Barbara. She explained that she was working with a deputy from the San Bernardino County Sheriff’s Department to help Lisa – not her real name – learn who she is and try to find her own biological family.
As a toddler, Lisa had been kidnapped and was held captive for several years. After a few years, she managed to escape. Her kidnapper was later arrested and put in prison, where he later died. Unfortunately, he never offered up any information about Lisa’s origins, and as a result, the authorities could never identify Lisa’s biological parents to reunite her with her family.
Now more than 30 years later, with the help of expert researchers and genetic genealogists, as well as advancements in DNA testing, they are trying to help Lisa finally find answers. (See the sidebar to learn more about Lisa’s story and the effort to help her.)


At first the story they told seemed so awful that Adam had a hard time believing it.
“It was like something you see on a Thursday night TV crime show. This type of stuff doesn’t actually happen to real people,” Adam said.


They asked Adam for his help.
<div id="attachment_24148" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-24148" class="wp-image-24148 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2016/07/Rob-Adam-300x277.jpeg" alt="Rob &#038; Adam" width="300" height="277" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/07/Rob-Adam-300x277.jpeg 300w, https://blogcms.23andme.com/wp-content/uploads/2016/07/Rob-Adam.jpeg 537w" sizes="auto, (max-width: 300px) 100vw, 300px" />Adam, on the right, and his brother Robert.</div>
He quickly shared his birth certificate and adoption records with Barbara, which included his adoptive mother’s maiden name and his birth date.
<h6>Finding His Mother</h6>
This information would allow Barbara, with the help of an adoption search angel, Diana Iwanski, to obtain information from his original birth certificate through a reverse look up microfiche. Within a day, Barbara and Diana had obtained Adam’s mother’s maiden name, his half-brother’s name (Robert), as well as the name Adam was given at birth – Michael Richard Kravan.


Although the deputy asked Adam to wait before trying to contact any family members until he could confirm the information on his birth mother by obtaining a copy of his original birth certificate from San Diego County, that didn’t stop Adam from looking online. Within minutes of learning his birth name and the name of his half-brother, he quickly found his profile on Facebook. It was there that Adam found pictures of his birth mother.
“When I saw them I just started balling my eyes out,” he said. “It’s hard to describe, being in your 40s and your whole life not knowing anything about your birth family and then all of a sudden, you see them. It all happened so fast. I went from getting a crazy email about a kidnapped girl to finding my birth family within a few days.”


All those emotions were mixed together when the deputy got back in touch with Adam a few months later and gave him the OK to contact his birth mother, Patti.
When they finally spoke on the phone, they were both overwrought with emotion. He tried to put her nerves at ease by explaining that he held no judgement, just joy for giving him life.

“I told her I had a great life and am very happy. I am very grateful that she put me up for adoption versus one of the alternatives.”

<h6>Close to Home</h6>

Patti and Robert only lived a few hours from Adam’s home in Oakland, California. He drove up to meet Robert first, then met Patti a few weeks later. The three met several times in those first few months and spent many hours together talking. Adam started getting answers to the holes in his past, and his mother was able to explain to Adam why he’d been given up for adoption.
“She had three children – all with different men,” Adam said. “She was a troubled young woman at the time; lots of drugs and alcohol and unfortunate situations that made raising a child tough.”


She in turn told him that he had another older brother, who she hadn’t seen for decades. Now Adam has put finding his oldest brother on his list of things to do in the coming year.
“Now that I’ve started learning about my birth family, I want to learn more and more,” Adam claimed.
<div id="attachment_24152" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-24152" class="size-medium wp-image-24152" src="https://blog-api.23andme.com/wp-content/uploads/2016/07/Adam-His-Grandfather.001-300x193.jpg" alt="Adam's high school graduation picture, right, and a photo of his grandfather." width="300" height="193" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/07/Adam-His-Grandfather.001-300x193.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2016/07/Adam-His-Grandfather.001.jpg 450w" sizes="auto, (max-width: 300px) 100vw, 300px" />Adam&#8217;s high school graduation picture, right, and a photo of his grandfather.</div>
<h6>
 Finding his birth father</h6>

His own search led to finding an uncle, Aaron, who is a half-brother of his birth mother, whom she never knew about before. Aaron’s father, Adam’s maternal grandfather was an actor in the 70s and 80s, and shares a striking physical resemblance to Adam.
DNA testing of Adam’s birth mother confirmed that Adam was connected to Lisa through his biological father.
Based on the family tree that Barbara built for Lisa and DNA information, both Lisa and Adam are connected to a man who was one of each of their closest matches. Through that connection Barbara identified the family she believes also include Adam’s father. DNA testing of a member of that family identified him as likely an uncle of Adam’s. But the definitive answer about who his father is, is still being sought. It’s another piece of his and Lisa’s puzzle they are trying solve.
He still can’t help but feel heartbroken by his cousin Lisa’s story.


“She deserves to find her family too,” he said. “I owe her so much and I look forward to the day I can meet her and thank her in person.”


The whole experience has brought peace to Adam. He always felt a disconnect with his adoptive family; they didn’t always get along and had very different personalities and interests. Now, finding relatives who are outgoing and creative like him, not to mention share physical and character traits, gives him a sense of belonging he didn’t have before.


“This entire experience has helped explain why I am the way I am,” he said, “and I am forever grateful.”

A List For Midlife

“Citizens worldwide have too long a history of being passive players in health care &#8212; blindly following <img loading="lazy" decoding="async" class="alignright wp-image-22084 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/01/Anne_Color_-Seated-250x300.jpg" alt="Anne_Color_ Seated" width="250" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/01/Anne_Color_-Seated-250x300.jpg 250w, https://blogcms.23andme.com/wp-content/uploads/2015/01/Anne_Color_-Seated-768x923.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/01/Anne_Color_-Seated-852x1024.jpg 852w, https://blogcms.23andme.com/wp-content/uploads/2015/01/Anne_Color_-Seated-732x880.jpg 732w, https://blogcms.23andme.com/wp-content/uploads/2015/01/Anne_Color_-Seated-982x1180.jpg 982w" sizes="auto, (max-width: 250px) 100vw, 250px" />instructions from providers.” 


The quote above, taken from a <a href="https://www.nature.com/news/stop-the-privatization-of-health-data-1.20268">Nature Comment</a> published yesterday by John Wilbanks and Eric Topol, encapsulates my motivation for co-founding 23andMe a little over 10 years ago.
I believed then as I do now that if people want to be healthier, they must take more ownership and responsibility for their health.
A key part to being an empowered health consumer is being in control of your health data, understanding it and using it to make the right decisions for you.  
<h6>Access</h6>
This is absolutely core to the soul and mission of 23andMe. The data is yours even though some may try to tell you it is not or they may make it challenging for you to get it.  I have had numerous instances throughout my life where I have had to work hard to get my health data – and those challenges continue to exist today.
My hope for 23andMe customers is that they not only learn about genetics but that they get a taste of what it’s like to be in control of important health information and that this inspires them to be more proactive with all their health data.


23andMe pioneered the idea of customers getting access to and owning their raw genetic data.  23andMe customers have always had the ability to access and download their raw genetic data and do with it as they please (Wilbanks and Topol mistakenly state that this data can only be shared with “certain listed <img loading="lazy" decoding="async" class="alignright size-medium wp-image-23374" src="https://blog-api.23andme.com/wp-content/uploads/2015/12/Research-Icon-285x300.jpeg" alt="Research Icon" width="285" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/12/Research-Icon-285x300.jpeg 285w, https://blogcms.23andme.com/wp-content/uploads/2015/12/Research-Icon.jpeg 673w" sizes="auto, (max-width: 285px) 100vw, 285px" />institutions”).  
We place no restrictions on whom a customer shares his or her data with.  I would strongly encourage the thousands of individuals who are participating in federally funded research projects that involve genetics to request their data.  To date, almost no federally funded studies enable individuals to get access to their data &#8212; notable examples include the <a href="http://www.research.va.gov/mvp/">Million Veteran Program</a> and the half a million patients in the <a href="http://rpgeh.kaiser.org/">Kaiser Permanente Research Program on Genes, Environment, and Health.</a>

<h6>Privacy and Security</h6>

To encourage responsible use of the raw data, 23andMe developed an <a href="https://api.23andme.com/">API</a> that empowers 23andMe customers to securely interact with applications developed by third parties that meet our criteria.  We recently announced a ResearchKit module that allows researchers to seamlessly integrate genetic information into their app-based studies. We are also actively working on ways to facilitate easier sharing of 23andMe reports with medical professionals for those customers who wish to do so.
The paper does raise the concerns about marketing around health care data in for profit companies.  Wilbanks and Topol warn of a future in which companies use customers’ health data to “aggressively market health-related services to people.” 
23andMe does not do that, though  we do occasionally send marketing emails that customers can easily opt-out of.
23andMe does use health data  – genotypic and self-reported phenotypic data – to direct research projects and questions to customers who <a href="https://www.23andme.com/research/">opt in to research</a> by signing our <a href="https://www.23andme.com/about/consent/">IRB-approved consent document</a>.  I believe that customers should have the opportunity to not just own their data but to connect with researchers and participate in studies that interest them.  
23andMe actively engages with both academic and pharmaceutical partners in research.  However we never sell or give individual level genetic or phenotypic information to any third party without explicit consent.
There is tremendous potential for making novel research discoveries in a large crowd-sourced community.  Wilbanks and Topol argue for the “transformative” potential if just 5 percent of the population donated their health data to science.  
I agree.  
<h6>Research</h6>
We’ve seen the power of this first hand at 23andMe.  We have well over a million customers with more than 80 percent consenting to participate in research.  The 23andMe research team and our collaborators have made discoveries in Parkinson’s, skin cancer, migraine, and many other areas of human health, publishing more than 50 papers – the majority in open access journals.  We consider our consented customers, research partners and not “human subjects” – on average each contribute to more than 200 studies and are key in helping us make new discoveries.
I applaud Wilbanks and Topol for highlighting what’s at stake as technological advances enable the collection of huge amounts of health information.  It is still immensely challenging to get access to and own most your health data and it is imperative that the collective health care system begin to enable individual data ownership.  None of the “transformative” potential will be realized if individuals can not access and own their data in a manner as simple as owning an online bank account.


I am also glad for the authors’ recognition of the immense potential for citizen-fueled science as one of the key benefits of putting health data directly into the hands of the people. With more and more projects like the <a href="https://www.nih.gov/precision-medicine-initiative-cohort-program">Precision Medicine Initiative</a> following our lead and developing protocols that not only allow anyone, anywhere to volunteer for research, but also return data to those volunteers, I believe we really can realize the healthier future we are all working towards.

Own Your Data: A Right and Responsibility for Better Health

By Jonathan Fischer
My name is Jonathan Fischer.
I was adopted shortly after birth in Milwaukee, Wisconsin. Not <img loading="lazy" decoding="async" class="alignright wp-image-24099 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2016/07/Jonathan-F-quote-300x300.jpg" alt="Jonathan F quote" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/07/Jonathan-F-quote-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2016/07/Jonathan-F-quote-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2016/07/Jonathan-F-quote-768x768.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/07/Jonathan-F-quote-880x880.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2016/07/Jonathan-F-quote-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2016/07/Jonathan-F-quote-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2016/07/Jonathan-F-quote-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2016/07/Jonathan-F-quote-980x980.jpg 980w, https://blogcms.23andme.com/wp-content/uploads/2016/07/Jonathan-F-quote.jpg 1000w" sizes="auto, (max-width: 300px) 100vw, 300px" />knowing more than where I was born, I always wondered about my origins and who my parents were. But I was also afraid about what I might find out, so for years I did nothing.
Then not too long ago I tried 23andMe.
Little did I know how much it would change my life.
My decision to take the leap and explore where I came from started in a small cafe along Alki Beach in West Seattle in the summer of 2013. I sat and talked to a dear friend, who is also a genealogist. I told her about both my curiosity and my fears.
She recommended trying 23andMe, so I did.


Right away I learned some health information, and that I was over 3 percent Neanderthal, something my wife says explains a lot.
But I also found people I was related to genetically. Using 23andMe’s “DNA Relatives,” I connected with many cousins some very distant and others much closer and even received a message from one of these close cousins. Turned out he was related to me through my paternal side, and, fortunately for me, he was also a genealogy buff.
He told me that finding me – a second cousin he’d never heard of – piqued his interest. How were we connected, he wondered. Our emails finally led to a phone conversation.
Although my initial intent hadn’t been to find relatives, when he asked me if I wanted to know the identity of my biological father, I didn’t hesitate:


“Yes!” I told him. 
Analyzing a family tree, he used a simple process of elimination to identify the man he thought was my father, and offered up a name.
After that phone conversation I wondered what I had just done. I had no idea what piercing the veil of secrecy would mean for me or this man and his family, but finding a name pushed me to take the next step, so I began taking a more traditional approach: filling out a form with the state of Wisconsin’s Department of Children and Families asking for my adoption file. This would give me access to a redacted file of my adoption.


What I got was my birth certificate and some basic facts about my biological mother but without any identifying information. I learned that only a single parent was listed on my original birth certificate, as my biological mother had not chosen to establish paternity. Although paternity was not established, there were details from the caseworker about my alleged father. Enough detail in fact that I was able to compare some of that information to the information supplied by my newly found second cousin, giving me some confidence that indeed I had the correct name for my biological father.


So in January 2014 I took a deep breath, and wrote him a letter.
The day it arrived, my biological father called four times trying to get in touch. When I got home from work, I quickly called him back and we talked into the night. It was like being born all over again. He confirmed that I was indeed his son, something we triple checked later when he also tested with 23andMe. We stayed in touch and arranged to meet in person.
In August of 2014 I met him, his brother, my uncle, and my half-brothers and sisters at a family dinner arranged for my visit. I had to muster all my courage to walk into that room. While my half-brothers and sisters were initially shocked to find out they had an older brother, they were friendly but guarded. Our relationship has grown since then.
Back when I had asked the state for my adoption file, I had also checked a box requesting contact with my biological mother. I was fortunate for how easy it was for my caseworker to find her.
Because of the success with my father, I also I got my hopes up that I would get a chance to meet her too. But that was not the case, at least at first. After much consideration she declined to establish contact. For years, I’d never allowed myself to even hope I would find her, but being so close and then her declining to make contact was disappointing to say the least. I was crushed.
But I decided not to let it go at that. I still wanted to know who she was.
Using the information I had from my case file, as well as information from the 1940 Census, I found her name. Although there was nothing stopping me from writing her a letter, I felt any contact that didn’t go through the state would be totally inappropriate. Occasionally I would Google my mother’s family. It was a difficult time. I worried that although I knew who they were, I’d never get a chance to meet them.
Then I thought of a quote from the Book of Lamentations:
“The Lord is good to those whose hope is in him, to the one who seeks him; it is good to wait quietly for the salvation of the Lord.”


So I waited.


In May of 2016, I was visiting my biological dad for his birthday when I received a text from my wife. Check your email she said. There was a message from my caseworker telling me that my biological mother had changed her mind. She was ready to have contact, and my caseworker wanted to know if I was still interested in meeting her. I said yes, emphatically.


A few weeks later I went to Michigan to meet my mom, and my half-brothers and half-sister and their families.  My half brothers and sister were delighted to find out that my existence was real after all.
Since connecting with them, I’ve been able to establish close relationships with both my biological parents. I talk to my mother every week and my father daily.


I’m a lucky man. I once had but one family, now I have three. My adoption experience was special and I was fortunate to have been adopted by a very loving, successful, happy and intelligent couple. After adopting me my parents conceived my sister.
Now I’ve met both my biological parents and their families, who are also filled with successful, happy and intelligent people. I’ve gone from having one sister to having ten siblings, and a passel of nieces and nephews. Not many adoptees have this kind of success finding biological relatives.
I guess I would have to say that I’m a very lucky guy thanks to 23andMe.


Jonathan is a CPA living in the Pacific Northwest with his wife and two kids.

A Lucky Man

Using data from 23andMe, researchers at<img loading="lazy" decoding="async" class="alignright size-medium wp-image-2744" src="https://blog-api.23andme.com/wp-content/uploads/2009/02/sun-300x222.jpg" alt="sun" width="300" height="222" /> associated with one of the most common forms of skin cancer, squamous cell carcinoma.


In a study published in <a href="https://www.nature.com/articles/ncomms12048">Nature Communications </a>researchers were able to single out entirely new variants associated with the cancer and they were also able to confirm some previously identified genetic associations. n finding these new associations, the study also uncovered previously unknown biological mechanisms that trigger this form of squamous cell carcinoma.
“Given the large-scale and novel findings of this study, we anticipate that it will be well-received by the scientific community,” said Kavita Sarin, M.D. and Ph.D., who is an assistant professor of dermatology at Stanford and a co-author the paper.

The study is also one of the first genome wide association studies ever done for cutaneous squamous cell cancer. In their work the researchers found 11 genetic variants associated with this form of cancer – four of those have never been seen before.
Squamous cell carcinoma is the second most common skin cancer after basal cell carcinoma.
In the United States about 10 percent of those with European ancestry will have some form of squamous cell carcinoma in their lifetime. Men, people with lighter skin, or those living near the equator, are at higher risk for the disease.
The seven previously known associations are all considered low-to-moderate penetrance sequence variants and are in genes or gene regions related to skin pigmentation, red hair and facial pigmentation– MC1R, ASIP, TYR, SLC45A2, OCA2, IRF4 and BNC2. The variant that lies near the gene BNC2 has been implicated in skin cancer as well as freckling and age spots.
The four newly identified variants are in genes or gene regions that influence not only pigmentation, but freckling, age-related pigmentation spots, and skin color. Taken together the 11 genetic associations identified in this study are estimated to explain over 18 percent of the familial relative risk for squamous cell carcinoma.


For this study researchers looked at data from about 300,000 individuals. More than 286,000 of those are 23andMe customers who consented to research. Among those individuals, 6,000 reported having had squamous cell carcinoma and another 280,000 individuals said they’d never had the disease and were used as controls. The researchers followed that initial work by conducting a genome-wide association study using data from about 12,000 people involved in Harvard’s<a href="https://www.hsph.harvard.edu/hpfs/"> Nurses’ Health Study and Health Professionals Follow-Up Study</a>.
This second stage of the study allowed the researchers to further confirm their findings.
This study was led by scientists at Stanford University’s School of Medicine’s Department of Dermatology, and it included contributions from scientists at 23andMe, Indiana University, and Harvard Medical School.
The same group – working with researchers at Brown, and at Tianjin Medical University Cancer Hospital and Institute in China – is also working on research into another very common form of skin cancer,  basal cell carcinoma.

New Genetic Associations Found for Common Skin Cancer

Offering scientists the ability to use our unique research platform for discovery, 23andMe launched a new Genotyping Services for Research (GSR).<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23374" src="https://blog-api.23andme.com/wp-content/uploads/2015/12/Research-Icon-285x300.jpeg" alt="Research Icon" width="285" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/12/Research-Icon-285x300.jpeg 285w, https://blogcms.23andme.com/wp-content/uploads/2015/12/Research-Icon.jpeg 673w" sizes="auto, (max-width: 285px) 100vw, 285px" />


The new platform gives researchers, who would recruit their own research participants, an end-to-end service that incorporates genetic information into their studies, provides a seamless way to collect phenotypic information and an easy way to track that information. Already, a number of institutions have signed up to utilize the service.
“GSR simplifies the genotyping process and allows any researcher with an IRB-approved study to incorporate genetics into their research, regardless of their own genetics expertise,” said Ruby Gadelrab, 23andMe’s vice president of commercial marketing. “Typically research studies don’t return any data to the participants. We’ve enabled researchers to give results back to participants in the form of the 23andMe experience, which we believe is a huge advantage in recruiting and the way research studies of the future will be conducted.”

<h6>GSR</h6>

23andMe GSR is for researchers recruiting participants for their own cohorts and looking to generate new genetic information. Researchers will be able to use 23andMe’s GSR platform to track and manage their projects, and download data in real-time as samples are genotyped through the new 23andMe Researcher Dashboard.
When paired with 23andMe’s mobile API for ResearchKit, researchers will have the ability create apps to collect digital phenotypes on smartphones to study alongside genetic information.


The end-to-end service includes non-invasive sample collection, DNA extraction, genotyping (arrays, reagents and sample processing), data and project tracking for the researchers, and the ability to return 23andMe reports to participants.
GSR also simplifies the recruiting process, offering non-invasive sample collection through a simple saliva kit, and the ability to recruit nationally by shipping the 23andMe kit directly to participants’ homes.


&#8220;The GSR platform will now allow us to collect genetic information directly from patients participating in medical research studies that use mobile technology.  We&#8217;re hopeful this data can accelerate breakthrough discoveries for complex diseases such as multiple sclerosis.” Daniel Pelletier, MD, vice chair of research, Department of Neurology at the Keck School of Medicine at the University of Southern California.


Those who have signed on to pilot the GSR platform are conducting studies as varied as smoking cessation, cognitive impairment in glioma patients as well as addictions and psychiatric disorders. The list of current collaborators includes researchers at not just USC but also at McMaster University/St. Joseph’s Healthcare Hamilton, the University of California, San Diego; and Washington University in St. Louis, among others.
“Partnering with 23andMe permits us to both accelerate the pace of our work and reduce infrastructure costs. Furthermore, it allows us to give back to our study participants who are interested in their genetic ancestry and health risks. It’s a real ‘win-win’ for us,” said James MacKillop, PhD, Director, Peter Boris Centre for Addictions Research, McMaster University/St.Joseph’s Healthcare Hamilton.

23andMe Launches New Genotyping Services for Research

Editor&#8217;s note: We first ran this blog post a few years back and thought we&#8217;d revisit it for this year&#8217;s July 4th.<img loading="lazy" decoding="async" class="aligncenter wp-image-14170 size-full" src="http://35.88.189.111/wp-content/uploads/2012/06/declaration_independence_70222_1.jpg" alt="" width="768" height="504" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/06/declaration_independence_70222_1.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/06/declaration_independence_70222_1-300x197.jpg 300w" sizes="auto, (max-width: 768px) 100vw, 768px" />
Through the magic of the Internet you can now examine the yellowing<a href="https://www.loc.gov/exhibits/declara/images/wtmanltr.jpg" target="_blank" rel="noopener noreferrer"> letters of Thomas Jefferson</a>, <a href="https://www.loc.gov/exhibits/treasures/images/bf0017s.jpg" target="_blank" rel="noopener noreferrer">Benjamin Franklin’s first ideas for a colonial confederation</a> in his own handwriting and early<a href="https://www.loc.gov/exhibits/declara/images/frag1.jpg"> drafts of the U.S. Constitution</a> complete with strikethroughs and other edits.
For most Americans, especially on<a href="http://www.census.gov/newsroom/releases/archives/facts_for_features_special_editions/cb12-ff12.html"> Independence Day</a>, looking at the handwritten notes of some of the country&#8217;s founders offers a visceral connection to the country’s beginning. Seeing their scratch marks on pages faded and wrinkled with age gives people a connection to their history.
In some ways,<a href="https://www.23andme.com/ancestry/"> exploring your ancestry</a> through your DNA stirs up a similar emotional response.
The “writing” in our DNA doesn’t just tell us about ourselves; it tells us about our connection to human history.
As George Church, the Harvard genetics professor and founder of the <a href="http://www.personalgenomes.org/" target="_blank" rel="noopener noreferrer">Personal Genome Project</a> once said:
“Written records go back to the dawn of written history. DNA goes back to the dawn of human existence.”
Within each of us is a genetic record of <a href="https://www.23andme.com/gen101/prehistory/outofafrica/#harsher_climate_harder_migrations">our ancestry</a>, including on what branch of the world’s family tree our paternal or maternal lines belong. 
While none of the Founding Fathers were customers of 23andMe, we do know a little about their DNA because of publicly-available records of testing done on their direct descendants. 23andMe customers can look back not just at their own ancestry, but they can also see if they share a maternal or paternal line with the likes of Benjamin Franklin,<a href="http://www.monticello.org/site/jefferson/brief-biography-thomas-jefferson"> Thomas Jefferson</a>,<a href="http://www.whitehouse.gov/about/presidents/johnadams"> John Adams,</a> and<a href="http://bioguide.congress.gov/scripts/biodisplay.pl?index=h000101"> Alexander Hamilton</a>.
Franklin’s maternal line, which traces from his mother to his mother’s mother and so on back in time, is Haplogroup V. This branch of the human family tree is believed to have originated in Europe 12,000 years ago. Only about four percent of Europeans share this haplogroup, which is much more common among Finns, Sardinians and Basques. Known for his wit and wisdom, Franklin also helped draft the Constitution and profoundly influence the character of the Nation. Although he never became president he embodied what many believe to be the essence of what it means to be an American.
Adams, a Harvard-trained lawyer who served as Vice President to George Washington and afterwards the second US President, had the paternal haplogroup R1b1.
This haplogroup also emerged out of Europe, but 30,000 years ago and is common among people of Irish, British, Dutch and German ancestry. (His son John Quincy Adams, the sixth US President, also shared this paternal haplogroup.)
Jefferson, the author of the Declaration of Independence and the third US President, had the unusual paternal Haplogroup T, which is more common among people of the Middle East, although it is also found in England. Jefferson traced his paternal ancestry back to Wales where T is very rare. DNA has also factored into determining that the rumors that Jefferson fathered at least one child <a href="https://blog.23andme.com/articles/historys-mysteries-finding-answers-in-our-dna">with his slave Sally Hemings</a> are probably true.
Finally, <a href="https://en.wikipedia.org/wiki/Alexander_Hamilton">Alexander Hamilton</a>, Washington’s Secretary of Treasury and the guy on the $10 bill, had a paternal Haplogroup I1a. This haplogroup is common among Finns, Norwegians and Swedes.
As we consider our country&#8217;s forefathers this Independence Day, these influential men need not be distant historic figures. Rather, a closer look at our DNA may reveal that these men are family. Those of us who share genetic connections to these forefathers can take pride in their family&#8217;s role in the birth of this nation.

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