Guillaume’s dad once referred to him in a poem as “my son of three fathers,” but he should have written: “My son of three fathers and three mothers.”
<div id="attachment_26997" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26997" src="https://blog-api.23andme.com/wp-content/uploads/2019/04/Guillaume-Bordier-300x214.png" alt="" class="size-medium wp-image-26997" width="300" height="214" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaume-Bordier-300x214.png 300w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaume-Bordier.png 512w" sizes="auto, (max-width: 300px) 100vw, 300px" />Guillaume Bordier</div>
His parents adopted him during the final years of the war in Vietnam. After they divorced, he added a stepdad and stepmom to his family. But Guillaume also had an unknown third father and mother. All he knew was that his birth father was likely an African American serviceman, and his birth mom was Vietnamese.
Raised in France, Guillaume was the only dark-skinned boy in his school. He went on to become a virtuoso ballet dancer and choreographer but always wrestled with his identity and a desire to know more about his origins.
“Because of my physical characteristics, I knew that I was part Vietnamese and part African-American,” Guillaume said. “But I knew nothing else.”
<h6>Searching</h6>
Although Guillaume’s father once said, his son’s “eyes reflect the light of every corner of the world,” Guillaume did not feel connected in that way.
“I always wondered who I was, and what my real origins were,” he said. “And as an adopted child, no matter what we say, we are always looking for our roots.”
Opening up his 23andMe Ancestry Composition results for the first time, with it’s mosaic of colors representing the global regions from which his DNA originated, gave Guillaume another tangible representation of who he was and where he was from. And it opened up a door into the mysteries of his origins.
His arresting story of discovery, documented in a film directed by Jésus Castro-Ortega called &#8220;<a href="http://www.andanafilms.com/catalogueFiche.php?idFiche=1254&#038;rub=Nouveaut%C3%A9">In Balance</a>,&#8221; was first shown last summer on French National television. An English-subtitled version, distributed by Andana Films in the US, is now streaming on Amazon Prime and<a href="https://link.tubi.tv/0oiLXvgRMV"> Tubi</a>.
The opening scenes of the film include Guillaume seeing his 23andMe results for the first time.
“It changed the course of my life,” he said.
<h6>The Wolf Cub</h6>
The French couple who’d adopted Guillaume Bordier worried that he might not survive.
<div id="attachment_26998" style="width: 232px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26998" src="https://blog-api.23andme.com/wp-content/uploads/2019/04/Guillaume-at-Orphanage-222x300.png" alt="" class="size-medium wp-image-26998" width="222" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaume-at-Orphanage-222x300.png 222w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaume-at-Orphanage.png 379w" sizes="auto, (max-width: 222px) 100vw, 222px" />Photo of Guillaume at a Vietnamese orphanage before his adoption.</div>
Malnourished, the 14-month-old weighed just 14 pounds and was in wretched physical condition. Sickly and slight for his age, his mother nursed him back to health. The young Guillaume was like an “abandoned wolf cub,” she once said.
At first, Guillaume, who would go on to become a powerful, and graceful ballet dancer, struggled just to walk. He didn’t take his first steps until he was two-and-a-half. Beyond those physical obstacles, Guillaume had to overcome the challenges put in front of him due to the color of his skin.
“Ballet dancing was, in France at that time, a solely white universe,” he said.
Yet dance was everything to him.
“I could have been someone who is violent,” Guillaume said. “But dance saved me. It was my therapy for every situation.”
His father at one point forbade him from dancing saying ballet is “not for boys.” So Guillaume would draw elaborate storyboards of the dances he had already memorized, complete with the positioning of every dancer, their names, and, of course, his role in the production.
That early obsession became his profession as Guillaume went on to dance in New York and Paris. Over time he added choreographer to his job title. But in the last few years, as Guillaume neared 50, the questions around his origins became more persistent. He often thought of where he’d come from, about the war, and what it must have been like for his birth mother to give him up.
<div id="attachment_26999" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26999" src="https://blog-api.23andme.com/wp-content/uploads/2019/04/Guillaume-and-His-Mother-300x300.png" alt="" class="size-medium wp-image-26999" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaume-and-His-Mother-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaume-and-His-Mother-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaume-and-His-Mother-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaume-and-His-Mother-372x372.png 372w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaume-and-His-Mother.png 449w" sizes="auto, (max-width: 300px) 100vw, 300px" />Guillaume and his mother in France.</div>
In dreams he imagined that moment and what she might have said as she left her baby:
“’You will grow up not knowing your mother and father,’” he imagined her saying to him. “’You will keep wondering if we’re dead or alive. My son I won’t be there but here is your life.’”
<h6>My Brother?</h6>
Both nervous and excited Guillaume and his partner, Francois, sat down one night in 2016 to look at his 23andMe results for the first time. Anxious he didn’t know what to expect.
“Ever since I learned you could use DNA testing to find your origins I’ve wanted to do it,” Guillaume said.
His first reaction to the results was awe. 
“Incredible,” he said when he saw the colorful wheel representing the regions to which his DNA connected him.
<div id="attachment_27000" style="width: 302px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-27000" src="https://blog-api.23andme.com/wp-content/uploads/2019/04/Guillaumes-AC-292x300.png" alt="" class="size-medium wp-image-27000" width="292" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaumes-AC-292x300.png 292w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaumes-AC.png 394w" sizes="auto, (max-width: 292px) 100vw, 292px" />Guillaume&#8217;s Ancestry Composition includes the rich mix of his African American and Vietnamese roots.</div>
Guillaume saw the large chunk of West Africa ancestry he inherited from his African American birth father, who also passed on to him a small but significant amount of European ancestry. He was surprised to learn that along with his Vietnamese ancestry from his birth mother he inherited a large amount of Chinese and Chinese Dai ancestry. The African and European half of his ancestry came from his father, and the Vietnamese and Chinese came from his mother.
“So I’m half American,” he said at one point after absorbing it all.
But it was when he looked at his <a href="https://www.23andme.com/dna-ancestry/">DNA Relatives</a> that he stopped short. At the top was a connection to a man he’d never met but with whom he shares about a quarter of his DNA.
“My brother,” he said and then corrected himself. “My half brother. This is so intense…Can you imagine?”
<h6>Back Into the Matrix</h6>
Guillaume marveled at the odds of finding his brother, Joe.
<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;">
What&#8217;s Your Story?

Like our DNA, our stories connect us. They can also inspire, entertain and empower us. Thousands of 23andMe customers have already shared their stories with us. We hope you will choose to share yours.
Whether it’s about finding a long-lost relative, gaining insights into your health, or simply recounting the fun you’ve had while exploring your DNA, we want to hear your story. We may even want to feature it on our website or in a television commercial.
You can see some of our favorite customer stories <a href="https://www.23andme.com/stories/" rel="noopener noreferrer" target="_blank">here</a>.
<a href="https://www.23andme.com/stories/#form" rel="noopener noreferrer" target="_blank">Tell us your story!</a>
</div>
Joe was also born in Vietnam, but almost four years after Guillaume. He’d also been given up after birth, but in his case, he’d been raised by an elderly woman in his village. When he turned 18, he was able to come to the United States.
Guillaume and Joe finally connected via email and then talked on the phone. Joe, who now lives in Tennessee with his family, was able to tell Guillaume that he has at least seven siblings who are all from the same mother. 
Most striking of all for Guillaume was that their mother was still alive, and had fled Vietnam to live in the United States. Joe could in turn introduce Guillaume to their mother, as well as a half-sister who both live in New Orleans.
Not long after that, he connected with her for the first time in an emotional video chat. At one point he broke down crying trying to explain to her what he is feeling.
“Mom, mom,” he said. “I’ve been searching for you all my life mom.”
A few months later, Guillaume comes to the US for a visit and drives with Joe to visit with their mother. In the days leading up the meeting, Guillaume felt he was living in an altered reality. He couldn’t sleep; he couldn’t help but go back over his life, thinking about everything, almost reviewing his existence in rewind.
“I’m starting over, going back into the matrix,” he said.
<h6>Like a Hurricane</h6>
Nothing is completely clear — the sequence of events, the names, and places — but sitting with his birth mother after their first emotional meeting Guillaume begins to get the first sketchy details of his origins. She spoke in broken English and sometimes in Vietnamese that was translated by her daughter, and Guillaume’s half-sister, Phung.
Their mother worked in the laundry near Camp Tien Sha, a Naval base in Danang that housed a battalion of Marines. Guillaume’s father was a young Marine.
<div id="attachment_27001" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-27001" src="https://blog-api.23andme.com/wp-content/uploads/2019/04/Guillaume-Birth-Mom-300x284.png" alt="" class="size-medium wp-image-27001" width="300" height="284" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaume-Birth-Mom-300x284.png 300w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaume-Birth-Mom-768x726.png 768w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaume-Birth-Mom-1024x968.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaume-Birth-Mom-880x832.png 880w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaume-Birth-Mom-1180x1116.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaume-Birth-Mom.png 1438w" sizes="auto, (max-width: 300px) 100vw, 300px" />Guillaume and his birth mother after meeting for the first time.</div>
They had started as friends but soon turned into something more. They were together for a few months in 1968 and 1969, she said.
“He looked like you,” she told Guillaume, adding that his skin was lighter like his, and that, “everybody loved him.”
Sometimes he would stay with her, she told him. Sometimes he’d be gone on missions for many days or weeks, and she would not see him. Then one day she was told he died in combat. She was devastated. She soon discovered she was pregnant.
Some of those details were comforting to hear, but Guillaume also had so many more questions.
What was his name? She wasn’t sure, John or James perhaps. She didn’t know his rank or his age. She wasn’t sure the date of his death or where.
She told Guillaume that after she’d heard the news, she became distraught and later became ill. When Guillaume was born both she and the new baby were sick, and they both began losing weight, she told him. At some point, she left him with a family that she trusted to care for him so that she could work in Saigon. When she returned they were gone, and unbeknownst to her had taken Guillaume to an orphanage.
That detail was important for Guillaume because he believed it meant she’d never abandoned him. She’d told him that she’d gone back and searched for him. She’d bike the countryside looking. His sister, Phung said that their mother never stopped thinking about him.
“You have to understand that Vietnamese people cherish boys,” she said.
Their mother had never stopped praying that she’d find him, and then like a miracle, he finds her.
It’s all a bit overwhelming and unbelievable. Guillaume didn&#8217;t just find his mother, but seven siblings.
“It’s like a hurricane in the brain,” he said. “An emotional (hurricane) Katrina. I didn’t expect that.”
<h6>I Think I Am Your Son</h6>
You can’t answer five decades of questions in one week, Guillaume said.
When he returned to France Guillaume shared photos of his trip with his adopted mother.
His mom immediately felt sympathy toward the woman who gave him up so long ago.
“This must have reminded her of a lot of things she wanted to forget,” Guillaume’s mother told him. “She must have thought you were dead. Can you imagine? She is very strong.”
But as the weeks and months went on after his visit, more questions emerged. Was his father really dead?
<div id="attachment_27004" style="width: 224px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-27004" src="https://blog-api.23andme.com/wp-content/uploads/2019/04/Guillaume-3-214x300.jpg" alt="" class="wp-image-27004 size-medium" width="214" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaume-3-214x300.jpg 214w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaume-3-768x1076.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaume-3-731x1024.jpg 731w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaume-3-628x880.jpg 628w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaume-3-843x1180.jpg 843w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Guillaume-3-scaled.jpg 1828w" sizes="auto, (max-width: 214px) 100vw, 214px" />Guillaume is still search, trying to find the identity of his birth father.</div>
“I can’t be certain,” he said. 
Months after his visit he found another half-sister living in Texas, but closer to him in age. They met in person in the summer of 2018.
Guillaume found a few second and third cousins on his birth father’s side, but so far no insights into his birth father’s name or whether he died in Vietnam or not. He found the name of a young African American Marine, James Albert Sanders, who’d been killed in combat in May of 1969, and left a note on the Vietnam Veterans Memorial Fund “Wall of Faces.”
“Maybe you are my father,” Guillaume wrote. “If you are my father, I want you to know that I always looked for you. If you are my father, let me tell you that I am very, very proud to be your son … I became not a soldier but a soloist ballet dancer &#8230; If you are my father, let me tell you that I miss you so much and I love you with all my heart.”
&nbsp;

23andMe Blog

23andMe Blog Team

Guillaume’s Search

By Tony Garrett, 23andMe customer and research participant
What if something inside you, something in your DNA, could lead to a cure, would you share it? Would you share it even if it didn’t help you personally?<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2019/04/tony3-300x300.jpg" alt="" class="alignright size-medium wp-image-26990" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/04/tony3-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2019/04/tony3-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2019/04/tony3-768x768.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2019/04/tony3-880x880.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2019/04/tony3-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2019/04/tony3-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2019/04/tony3-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2019/04/tony3.jpg 960w" sizes="auto, (max-width: 300px) 100vw, 300px" />
I’m a 40-year-old father of a teenage girl, and this question isn’t a rhetorical one for me. I’ve been<a href="https://www.facebook.com/TGarrettsjourney/?__tn__=kCH-R&#038;eid=ARBqRHv7yt_UH_sT_441d7bX8DDWkPiVBN2x-yOHNwJmA_7E2jOSfQUasc0VDrBS6P1dzg3Tn8aLTTqu&#038;hc_ref=ARTBXtmIVCHjB-3dUkfvP-FK1A_wIz133xA-VzHU_dSc4KPxtvspV15VtSjaOOJX9yk&#038;fref=nf&#038;__xts__[0]=68.ARDjr_zK3QslhTDu2kgxHr4DjjiyjsafrJGjjywzBbXqrz3YRB16qmF_Q-InNzw3uZo6dYM_ISpM5Camrt64jcZ7LcTZ-PUnlgx-oI1z3eEItPSB_4S8aUHRbBStcAnWyJ9IMCicsyOpFXjzweTsbwx75Yquz0WEd3CozZRZMoGYSsutnbHAUwhGe3IzT7UFhnzicn1dQYDlyVCz504j_lNhKwsvQ8uI8hecZMqfOPw6HemaBSB5uehHeUAjF9ulHDD0pX-gDn6WCm_ilyaAPfZjG5Vc1ifKcnF8d4mxu4FurVBuGI3bcXSXmgJKKICaXGRNYLgCw69BG5fl2yyXgQ"> living with Parkinson’s disease</a> for a decade now. I want to know.
I have to tell you I’m biased. I would gladly share my information. I would die happy if I knew that knowledge gleaned from my DNA might have helped in the development of a treatment or cure. Even if it didn’t help me.
<h6>You Can Help</h6>
Something in you, in your DNA, when studied together with data from millions of others, could help me. Isn’t that a profound idea?
What is much more likely is that that information could help future generations facing a diagnosis like mine. That’s why five years ago I didn’t hesitate to opt into having researchers at 23andMe use my data. The company was<a href="https://www.23andme.com/pd/"> upfront</a>. They let me know they were working with researchers at<a href="https://foxinsight.michaeljfox.org/"> The Michael J. Fox Foundation</a> and also at pharmaceutical companies that may use my anonymous data for the study of Parkinson’s and other diseases, in the search for new treatments.
But I know that not everyone is so eager to be part of research like this. I understand that, and I’ve heard a lot from those who choose not to opt-in and all the reasons why. But I want to share with you what I see as the positive side of participating in research.
We live in a new world where data, big data from millions of people like you and me, could lead to new breakthroughs that save people’s lives. This new method of research is revolutionary. It has the potential of accelerating treatments and cures for conditions like Parkinson’s, and to do that much faster than before. For those of us with Parkinson’s that means something.
<h6>Living with PD</h6>
So what about me?
Many people know about Parkinson’s because of Michael J. Fox and Muhammad Ali, and the heroic work they’ve done to raise awareness about this condition. But, like me, most of the almost one million people living with Parkinson’s in the United States are not in the limelight. Our daily battles with this disease are largely unseen.
My life is simple.
<div id="attachment_26991" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26991" src="https://blog-api.23andme.com/wp-content/uploads/2019/04/Tony2-300x300.jpg" alt="" class="size-medium wp-image-26991" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/04/Tony2-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Tony2-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Tony2-768x768.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Tony2-880x880.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Tony2-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Tony2-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Tony2-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Tony2.jpg 960w" sizes="auto, (max-width: 300px) 100vw, 300px" />Tony with his daughter Breanna.</div>
I was born and raised in a working-class part of Illinois where I still live. I played high school sports — football, basketball, and track. When I graduated, I went to work. I did maintenance with the local school district, but in my early 20s I noticed my hand was giving me trouble, and my pinky would shake. My doctor sent me to see a neurologist, but at the clinic, they told me they’d need me there for two weeks of tests. I couldn’t take that kind of time off work. It would be several years before I was ultimately diagnosed, at 31, with young onset Parkinson’s disease.
By then I was having more than just grip problems. I had leg cramps, slurred speech, and some mornings it was so hard to move. It felt as if I was encased in concrete. My doctor said I was the youngest patient he’d ever seen with the disease. I guess that makes me special.
<h6>What I Want</h6>
I tell you this not so that you will feel sorry for me. I don’t want pity. I want you to understand what it is like to live with a condition like Parkinson’s. It’s a daily struggle. It involves both physical and psychological pain, wrangling for the right treatment, finding a medicine that doesn’t cause you even more problems, and fighting off depression. And as with any incurable condition, you must come to terms with where this is all going. Where it ends.
But I’m OK. My diagnosis brought me closer to my God. It has distilled what is essential in my life — my daughter, and my family. It helped me focus on the joy, and satisfaction I get in helping others. And I’ve learned to appreciate the simple joys of a walk outside and the morning sun. But I wouldn’t wish this disease on anyone. I will do whatever I can to help find a cure.
This gets me to you, and the question I asked in the beginning:
What would you do if information inside your DNA, could help cure Parkinson’s or any number of other conditions? Would you share it?
Tony Garrett is a retired maintenance worker who now works to raise awareness about Parkinson’s disease. He lives in Evanston, Illinois.
&nbsp;

Participating in 23andMe Research, A Customer’s Perspective

Today, 23andMe added a new report on TTR-related hereditary amyloidosis, a genetic, multi-system disease.
<img loading="lazy" decoding="async" class="alignright wp-image-26987 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2019/04/Smiling-Granddad-and-Grandson-300x200.jpg" alt="" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/04/Smiling-Granddad-and-Grandson-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Smiling-Granddad-and-Grandson-768x512.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Smiling-Granddad-and-Grandson-1024x683.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Smiling-Granddad-and-Grandson-880x587.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2019/04/Smiling-Granddad-and-Grandson-1180x787.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />
<h2>What is TTR-Related Amyloidosis?</h2>
This new <a href="https://www.23andme.com/dna-ancestry">Genetic Health Risk report</a> looks at three of the most common genetic variants associated with TTR-related hereditary amyloidosis. This little-known and underdiagnosed genetic condition is caused by the buildup of a protein called<a href="https://ghr.nlm.nih.gov/gene/TTR"> transthyretin</a> (TTR) in the body’s tissues and organs. This protein buildup can damage the nerves, heart, and other body parts. Symptoms vary widely, but can include cardiomyopathy, peripheral neuropathy and autonomic neuropathy. Because symptoms of TTR-related hereditary amyloidosis can vary widely, it is often misdiagnosed.<a id="a1" href="#f1">[1]</a>  
23andMe’s new report gives customers an opportunity to learn about their potential risk for TTR-related hereditary amyloidosis so that they can take action by speaking to their doctor to learn more about their risk and discuss appropriate next steps, which may include diagnostic testing.
<h2>Alnylam Collaboration</h2>
Based on a shared commitment to disease awareness of TTR-related hereditary amyloidosis, Alnylam Pharmaceuticals supported the publication of this report in part. Alnylam has worked with TTR-related hereditary amyloidosis patients for years and has a deep understanding of how the condition can impact individuals and their families. As such, the company’s scientific and medical teams provided input on information related to the condition, including its symptoms and how it manifests in the patient community. 
To further the goal of awareness and early detection, 23andMe will also be running an awareness program in collaboration with Alnylam to provide 23andMe Health + Ancestry Service kits to first-degree relatives—parents, full siblings, and adult children—of any 23andMe customer with an identified TTR variant. Hopefully, this effort will increase awareness and lead to earlier diagnosis of this condition. The program will be launched later this year.
<h2>Report Details</h2>
The new report looks at three of the most common TTR variants that account for an estimated 50-to-80 percent of TTR-related hereditary amyloidosis cases.<a id="a2" href="#f2">[2]</a>
The report does not test for all possible variants linked to TTR-related hereditary amyloidosis. Customers who do not have one of the variants 23andMe tests for could still have a variant not covered in the report.
The three variants in this report—V122I, V30M, and T60A—each occur at different frequencies among people of different ethnicities.
<h2>Facts to Keep in Mind</h2>
However, it’s important to remember that not everyone who inherits one of these variants will necessarily develop symptoms.
<ul>
<li>The V122I variant is most common in African Americans and people of West African descent. Most people with this variant have some amount of TTR protein buildup in the heart after age 60, but not all will end up with heart damage. Approximately 10 percent of African Americans over the age of 60 with congestive heart failure likely carry this variant.<a id="a3" href="#f3">[3]</a></li>
<li>The V30M variant is most common among people of Portuguese, Northern Swedish, and Japanese descent but carries different risks for each ethnicity. About 50 percent of people of Northern Swedish descent with this variant develop TTR-related hereditary amyloidosis by the age of 80, with symptoms often appearing after the age of 60. By comparison, about 90 percent of people of Portuguese descent with the V30M variant develop the condition by age 80, with symptoms appearing as early as 20-30 years of age. People of Japanese descent with the V30M variant can develop symptoms as early as their 20s or as late as their 90s, depending on family history.<a id="a4" href="#f4">[4]</a> <a id="a5" href="#f5">[5]</a></li>
<li>The T60A variant is most common in people of Irish descent. It is also found in people of British descent. People with this variant typically develop symptoms between 45 and 80 years old. Lifetime risk estimates are not available for people with this variant.<a id="a6" href="#f6">[6]</a></li>
</ul>
<h2>Prevalence and Treatment</h2>
While the condition is little known and underdiagnosed, the frequency of TTR variants among certain ethnicities is relatively significant.
Estimates suggest that 1 in 28 African Americans, 1 in 67 people from Northern Sweden, 1 in 90 people from Northwest Ireland, and 1 in 625 people of Portuguese descent have one of the three variants included in 23andMe’s new report. However, there are no current estimates on how many of those with one of the three variants will go on to develop TTR-related hereditary amyloidosis.
This report, like 23andMe’s other Genetic Health Risk reports, aims to give customers an opportunity to learn of a potential health risk so that they can work with their health care provider on the best options for mitigating and managing that risk.
Treatments for TTR-related hereditary amyloidosis include the use of medications or surgical intervention to address the symptoms. Recently approved medications are now being used to decrease the production of the TTR protein. In addition, because the liver produces most of the TTR protein, some patients have benefited from liver transplants. Additional research on developing new treatment options is also currently underway.
23andMe Health + Ancestry Service customers who are on the most recent genotyping platforms can find this new report in the Health Predisposition section of their account. Not yet a customer? You can find out more about 23andMe’s Health + Ancestry Service<a href="https://www.23andme.com/dna-health-ancestry/"> here</a>.
<h2>Footnotes</h2>
<footer class="footnotes"><a id="f1" href="#a1">[1]</a>Sekijima Y et al. (2001). &#8220;Familial Transthyretin Amyloidosis.&#8221; [Updated 2018 Dec 20].</footer><footer class="footnotes"><a id="f2" href="#a2">[2] </a>Gertz MA et al. (2015). &#8220;Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis.&#8221; J Am Coll Cardiol. 66(21):2451-2466.</footer><footer class="footnotes"><a id="f3" href="#a3">[3] </a>Buxbaum JN et al. (2017). &#8220;Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans.&#8221; Genet Med. 19(7):733-742.</footer><footer class="footnotes"><a id="f4" href="#a4">[4]</a> Holmgren G et al. (1994). “Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate.” J Med Genet. 31(5):351-4.</footer><footer class="footnotes"><a id="f5" href="#a5">[5] </a>Planté-Bordeneuve V et al. (2003). &#8220;Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families.&#8221; J Med Genet. 40(11):e120.</footer><footer class="footnotes"><a id="f6" href="#a6">[6] </a>Reilly MM et al. (1995). “Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study.” J Neurol Neurosurg Psychiatry. 59(1):45-9.</footer>


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

Report Brings to Light Underdiagnosed Condition

You have a good head on your shoulders, but your genetics might be influencing whether or not you also have a little dandruff there.
<h2>Combing Through The Genetics</h2>
While we can’t brush it off for you, 23andMe scientists have identified genetic variants associated with dandruff.
As part of 23andMe’s regular cadence of releasing new<a href="https://www.23andme.com/dna-health-ancestry/#toc-traits"> trait reports</a>, 23andMe now offers a report on a customer’s genetic predisposition toward having dandruff.
The new report analyzes a customer’s genetic data for 487 variants associated with dandruff, takes into account a customer&#8217;s age, sex, and ancestry, and reports back whether that customer is more or less likely to have dandruff.
<img loading="lazy" decoding="async" class="size-large wp-image-26975 aligncenter" src="https://blog-api.23andme.com/wp-content/uploads/2019/03/WS-Dandruff-1024x536.png" alt="" width="1024" height="536" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/03/WS-Dandruff-1024x536.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2019/03/WS-Dandruff-300x157.png 300w, https://blogcms.23andme.com/wp-content/uploads/2019/03/WS-Dandruff-768x402.png 768w, https://blogcms.23andme.com/wp-content/uploads/2019/03/WS-Dandruff-880x461.png 880w, https://blogcms.23andme.com/wp-content/uploads/2019/03/WS-Dandruff-1180x618.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2019/03/WS-Dandruff.png 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />
<h2>Not Just Your Genetics</h2>
Your genetics, of course, is just part of the picture. Your environment and lifestyle also influence the flaking of the skin on your scalp. And the root of the problem, or at least one possible cause, maybe in the interaction between the microbes on your scalp and your skin cells.
For some of us, these microbes — and don’t freak out because we all have ‘em — may trigger an immune response that triggers skin cells to move more rapidly, causing skin cells to flake off and form dandruff. Scientists don’t yet know why some of us are more sensitive to these microbes than others, but they’ll continue combing the data to find out why.
This report and the more than two dozen other trait reports we offer within our  Health + Ancestry Service are meant to give customers a bit more insight into the fascinating world of genetics. They also add to the understanding of how your DNA and environment interact to help influence all the many things that are part of who you are.

23andMe’s New Dandruff Report

Pregnancy or rapid changes in weight can lead to stretch marks, but your genetics play a vital role in whether you see those lines across your skin.
<h2>The Genetics of Stretch Marks</h2>
23andMe scientists have identified 544 genetic variants associated with stretch marks.
<img loading="lazy" decoding="async" class="aligncenter wp-image-26976 size-large" src="http://35.88.189.111/wp-content/uploads/2019/03/WS-Stretch-Marks-1024x536.png" alt="An illustration with the words stretch marks" width="1024" height="536" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/03/WS-Stretch-Marks-1024x536.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2019/03/WS-Stretch-Marks-300x157.png 300w, https://blogcms.23andme.com/wp-content/uploads/2019/03/WS-Stretch-Marks-768x402.png 768w, https://blogcms.23andme.com/wp-content/uploads/2019/03/WS-Stretch-Marks-880x461.png 880w, https://blogcms.23andme.com/wp-content/uploads/2019/03/WS-Stretch-Marks-1180x618.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2019/03/WS-Stretch-Marks.png 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />
As part of 23andMe’s regular cadence of releasing new <a href="https://www.23andme.com/dna-health-ancestry/#toc-traits">trait reports</a>, 23andMe now offers a report on a customer’s genetic predisposition toward having stretch marks, also known as striae distensae.
The new report analyzes a customer’s genetic data against those variants we have identified. It takes into account a customer&#8217;s age, sex, and ancestry and reports back whether that customer is more or less likely to have stretch marks.
<h2>Not Just Genetics</h2>
Some of us are more susceptible to stretch marks than others because of environment, age, and sex, but genetics also plays an important role.
Studies have shown that skin cells from people with stretch marks have lower amounts of specific proteins that are important for skin elasticity and repair. So when this skin is stretched rapidly from, say, pregnancy or weight loss or gain, the damage may be repaired, but it can also leave behind marks.
More than five years ago, 23andMe<a href="https://www.jidonline.org/article/S0022-202X(15)36019-X/fulltext"> published</a> a first-of-its-kind study looking at the genetics behind stretch marks, identifying an association near the gene that encodes for the elastin protein.
The new Stretch Marks trait report and the now more than two-dozen other trait reports we offer within the Health + Ancestry Service are meant to give customers a bit more insight into genetics. They also add to the understanding of how your DNA and environment interact to help influence all the many things that are part of who you are.

23andMe’s New Report on Stretch Marks

As pranksters prowl for marks on April Fools Day, they might want to know how their punchline will land.



According to data from 23andMe, genetics plays a role in a person’s sense of humor and ability to get a joke. (Although we love a good gene pun and wordplay&nbsp; — &#8220;Mom&#8217;s genes&#8221; anyone? — we&#8217;ll spare you any gene puns this time around.)



<h2 class="wp-block-heading" id="h-this-is-not-a-joke">This is not a joke</h2>



Indeed, like most traits, our sense of humor is influenced by genetics and environmental factors like upbringing, culture, and social circle.



This is evident in 23andMe’s data, which shows regional and gender differences. For example, women rated themselves as having a lower sense of humor and ability to get jokes.



This could have less to do with men having a better sense of humor and more with how women self-assess their humor. It could also reflect cultural norms that have even penalized funny women in the <a href="https://www.washingtonpost.com/business/2019/01/11/when-being-funny-can-hurt-women-work/?utm_term=.e9ab012c82e9">workplace</a> and perpetuated the <a href="https://www.theguardian.com/science/brain-flapping/2014/feb/11/women-arent-funny-why-do-people-believe-this">“women aren’t funny”</a> myth.



23andMe also found that jokes land a little better in Illinois, home of Chicago’s humor mill <a href="https://www.secondcity.com/">Second City</a>, than in the barren plains of North Dakota. Another place where they love to laugh is Washington, D.C. No joke!



<h2 class="wp-block-heading" id="h-the-genetics-of-humor">The Genetics of Humor</h2>



But there are also interesting genetic components to one’s sense of humor.







There may be evolutionary advantages to having a funny bone, and studies have looked at the genetics of the propensity to show positive emotional expressions like <a href="https://www.ncbi.nlm.nih.gov/pubmed/26029940">laughing and smiling</a>, as well as the <a href="https://www.psychologytoday.com/sites/default/files/attachments/95822/humor-predicts-mating-success.pdf">ability to get a joke and ‘mating success.’</a>



For instance, humor helps establish social bonds. 23andMe researchers looking at data from customers who have consented to participate in research found interesting genetic associations with having a sense of humor that centers on brain development, cognitive function, and intelligence. One of the strongest associations we found for a person’s ability to get a joke was in a gene that is important for neurodevelopment and a significant player in autism.



<h2 class="wp-block-heading" id="h-scientific-details">Scientific Details</h2>



So how did we do this?



We asked just over one million 23andMe customers who consented to participate in research the following questions:



<ul class="wp-block-list">
<li>On a scale of 1-5, how would you rate your sense of humor? Answers included 1 (Below Average), 2, 3 (Average), 4, 5 (Above Average)</li>



<li>How easy is it for you to get jokes? Answers included Very Easy, Somewhat Easy, Somewhat Hard, and Very Hard.</li>
</ul>



Before we delve into genetics, let’s look at demographics where we saw the starkest differences: among the sexes. (As a side note, about 70 percent of people assess themselves as being above average in having a sense of humor, and only 5 percent say they are below average. This could be that people don’t think of population averages but instead are just indicating if they have a “good” or “bad” sense of humor.) OK, back to demographics. Women were about half as likely to report a sense of humor (Figure 1, p-value &lt; 7.0e-05, OR=0.6) and about twice as likely to report difficulties getting a joke (Figure 2, p-value &lt; &nbsp;7.9e-09, OR=2.0).



<figure class="wp-block-image aligncenter size-medium wp-image-26969"><img loading="lazy" decoding="async" width="300" height="199" src="http://35.88.189.111/wp-content/uploads/2019/03/Sense-of-Humor-Bar-Chart-300x199.png" alt="A chart showing the distribution of responses comparing men and women and how they rate their sense of humor." class="wp-image-26969" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/03/Sense-of-Humor-Bar-Chart-300x199.png 300w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Sense-of-Humor-Bar-Chart.png 512w" sizes="auto, (max-width: 300px) 100vw, 300px" /><figcaption class="wp-element-caption">Figure 1. Distribution of responses to the question by sex, “On a scale of 1-5, where 5 is above average, how would you rate your sense of humor?”</figcaption></figure>



<figure class="wp-block-image aligncenter size-medium wp-image-26967"><img loading="lazy" decoding="async" width="300" height="197" src="http://35.88.189.111/wp-content/uploads/2019/03/How-Easy-Get-Jokes-Bar-Chart-300x197.png" alt="A comparison between men and women looking at whether they easily get jokes." class="wp-image-26967" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/03/How-Easy-Get-Jokes-Bar-Chart-300x197.png 300w, https://blogcms.23andme.com/wp-content/uploads/2019/03/How-Easy-Get-Jokes-Bar-Chart.png 512w" sizes="auto, (max-width: 300px) 100vw, 300px" /><figcaption class="wp-element-caption">Figure 2. Distribution of responses to the question by sex, “How easy is it for you to get jokes?”</figcaption></figure>



<h2 class="wp-block-heading" id="h-regional-differences">Regional Differences</h2>



We also found some tiny regional variations. People in the District of Columbia, New York, and California were the most likely to rate themselves as having a good sense of humor, while those in Puerto Rico, Mississippi, and North Dakota were the least likely (Figure 3).



The District of Columbia, Delaware, and Illinois participants were the most likely to &#8220;get a joke.&#8221;&nbsp; Puerto Rico, Alaska, and Maine participants were the least likely (Figure 4). While we did find that the differences between the highest-ranking and lowest-ranking states were statistically significant (sense of humor p-value = 2.215e-10; gets jokes p-value = 6.372e-12), the mean differences between states are not particularly large.



<figure class="wp-block-image aligncenter size-medium wp-image-26968"><img loading="lazy" decoding="async" width="300" height="202" src="http://35.88.189.111/wp-content/uploads/2019/03/Sense-of-Humor-Heat-Map-300x202.png" alt="" class="wp-image-26968" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/03/Sense-of-Humor-Heat-Map-300x202.png 300w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Sense-of-Humor-Heat-Map.png 512w" sizes="auto, (max-width: 300px) 100vw, 300px" /><figcaption class="wp-element-caption">Figure 3. Regional differences across the US for having a sense of humor.</figcaption></figure>



<figure class="wp-block-image aligncenter size-medium wp-image-26970"><img loading="lazy" decoding="async" width="300" height="206" src="http://35.88.189.111/wp-content/uploads/2019/03/Heat-Map-Get-Jokes-300x206.png" alt="A heatmap showing the regional differences across the United States where where people are less likely to get a joke." class="wp-image-26970" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/03/Heat-Map-Get-Jokes-300x206.png 300w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Heat-Map-Get-Jokes.png 512w" sizes="auto, (max-width: 300px) 100vw, 300px" /><figcaption class="wp-element-caption">Figure 4. Regional differences across the US for getting jokes.</figcaption></figure>



We ran two genome-wide association studies to investigate the underlying biology of having a sense of humor and getting jokes. The data was from unrelated people of European descent. We controlled for age, sex, genetic ancestry, and the version of the genotyping platform.



More than two dozen genetic variants reached genome-wide significance. Those are indicated in red in Figure 5 for a sense of humor. And in Figure 6 for getting jokes. Red dots show genetic variants that are “statistically significantly” associated with the trait being investigated. In this case, having a sense of humor and getting jokes. That means they’re more likely to be real associations (as opposed to random noise).



<figure class="wp-block-image aligncenter size-full wp-image-26972"><img loading="lazy" decoding="async" width="512" height="256" src="http://35.88.189.111/wp-content/uploads/2019/03/Plot-Sense-of-Humor.png" alt="A Manhattan plot showing genetic associations and genes that are strongly associated with a person's sense of humor. FOXP3 was the gene with the strongest association." class="wp-image-26972" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/03/Plot-Sense-of-Humor.png 512w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Plot-Sense-of-Humor-300x150.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /><figcaption class="wp-element-caption">Figure 5. Genome-wide association study Manhattan plot for “On a scale of 1-5, where 5 is above average, how would you rate your sense of humor?” n=466,828. A Manhattan plot shows the strong associations between a particular trait and different genetic variants (represented by dots). This model treated the responses as linear. It is adjusted for age, sex, genotyping platform, and the top five principal components of genetic ancestry.</figcaption></figure>



<figure class="wp-block-image aligncenter size-full wp-image-26971"><img loading="lazy" decoding="async" width="512" height="256" src="http://35.88.189.111/wp-content/uploads/2019/03/Plot-Get-Jokes.png" alt="A Manhattan plot showing genetic associations and genes that are strongly associated how easily a person is to get a joke. " class="wp-image-26971" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/03/Plot-Get-Jokes.png 512w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Plot-Get-Jokes-300x150.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /><figcaption class="wp-element-caption">Figure 6. Genome-wide association study Manhattan plot for “How easy is it for you to get jokes?” n=463,738. This model treated the responses as linear. They are adjusted for age, sex, genotyping platform, and the top 5 principal components of genetic ancestry.</figcaption></figure>



<h2 class="wp-block-heading" id="h-a-joke-gene">A Joke Gene?</h2>



This is where it gets interesting. We saw several significant genetic associations that overlapped between the self-rated sense of humor and the ability to get jokes.



The strongest association for the “sense of humor” trait was within FOXP2, a gene known to be <a href="https://www.nature.com/articles/d41586-018-05859-7">incredibly important for the ability to use language</a>. Several associations were with other genes somehow involved in brain function. Those include PTCH1, which is involved in <a href="https://www.invitae.com/en/physician/genes/20430/">brain development</a>, and SEMA6, which is involved in neurodevelopment more generally. Finally, there was an association with NEGR1, which is implicated in both <a href="https://www.ncbi.nlm.nih.gov/pubmed/19079261">obesity</a> and <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5665562/">intelligence</a>.



We also found associations in PRKG1. The PRKGI gene is involved in <a href="https://phys.org/news/2019-02-foraging-gene-humans-fruit-flies.html">foraging and self-regulation</a>. Foraging and self-regulation are related to goal-directed behavior, such as finding and gathering food. They require recall and pattern recognition. This comes in handy with sophisticated word constructs that make up humor. Another hit was found at SLC39A8. It&#8217;s involved in the uptake of manganese, an element<a href="https://www.sciencedirect.com/science/article/pii/S0165017302002345"> in brain function</a>.



<h2 class="wp-block-heading" id="h-so-what">So What?</h2>



As we said earlier, our researchers also found a strong association between one’s ability to “get jokes” and AUTS2. This gene is essential for <a href="https://www.google.com/search?q=auts2&amp;oq=auts2&amp;aqs=chrome..69i57j0l5.815j0j7&amp;sourceid=chrome&amp;ie=UTF-8">neurodevelopment and a major player in autism</a>.



<a href="https://www.degruyter.com/view/j/humr.2013.26.issue-3/humor-2013-0030/humor-2013-0030.xml">Some studies</a> have shown that individuals with Asperger’s Syndrome or those with high-functioning autism tend to have a different style of humor. Often, people with these conditions don’t laugh at what is commonly found as funny. However they laughing at scenarios some don’t believe to be humorous.



Humor is universal. It’s a way to bond with other people and connect. It’s part of what makes us human. Understanding why we are the way we are and how a trait like humor is associated with neurodevelopment adds to our understanding of what makes us. And like all complex behavioral traits, there isn’t a single gene for a well-developed funny bone. Instead, many genetic variants and environmental causes give us our sense of humor.



Maybe someday we’ll have data on the genetics of pulling a good prank. So this April 1st, don’t get caught with your genes down, and get ready to smile.



<h2 class="wp-block-heading" id="h-find-out-more">Find Out More</h2>



Explore what your DNA says about you and all you can learn <a href="https://www.23andme.com/">using 23andMe. </a>

Does your DNA make you LOL?

New Parkinson&#8217;s disease research by scientists at 23andMe has identified more than 100 phenotypic variables related to the disease, offering a potential step forward in efforts to diagnose Parkinson&#8217;s disease earlier.
<div id="attachment_24396" style="width: 260px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-24396" src="https://blog-api.23andme.com/wp-content/uploads/2016/10/KarlHeilbron-preferred-199x300.jpg" alt="" class="wp-image-24396" width="250" height="376" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/10/KarlHeilbron-preferred-199x300.jpg 199w, https://blogcms.23andme.com/wp-content/uploads/2016/10/KarlHeilbron-preferred-768x1156.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/10/KarlHeilbron-preferred-680x1024.jpg 680w, https://blogcms.23andme.com/wp-content/uploads/2016/10/KarlHeilbron-preferred-585x880.jpg 585w, https://blogcms.23andme.com/wp-content/uploads/2016/10/KarlHeilbron-preferred-784x1180.jpg 784w, https://blogcms.23andme.com/wp-content/uploads/2016/10/KarlHeilbron-preferred-scaled.jpg 1701w" sizes="auto, (max-width: 250px) 100vw, 250px" />Karl Heilbron, Ph.D.</div>
&nbsp;
Published today in the <a href="https://www.nature.com/npjparkd/">Nature Partners Journal/Parkinson’s Disease</a>, the new <a href="https://www.nature.com/articles/s41531-019-0077-5">paper</a> offers a wider glimpse of the phenotypes — traits, environmental exposures, and comorbidities — that are linked to Parkinson’s disease, such as migraines, obsessive-compulsive disorder, and seasonal allergies. This study was a collaborative effort with Alastair Noyce from the Preventive Neurology Unit, Queen Mary University of London and Mike Nalls from the National Institute on Aging and Data Tecnica International.
&nbsp;
“Understanding which conditions are associated with Parkinson disease — particularly those that often occur much earlier than the typical age of diagnosis — is a promising step forward for the Parkinson’s community,&#8221; said <a href="https://blog.23andme.com/23andme-research/update-23andme-parkinsons-disease-research/">Karl Heilbron</a>, Scientist I, Statistical Genetics, 23andMe. “Especially in terms of being able to identify those that might develop Parkinson’s much earlier, it’s possible to envision a future where we could intervene before the condition develops in the first place.”
<h6>Research Platform</h6>
This study is part of a broader effort by 23andMe over the last decade to use genetics to advance our collective <a href="https://blog.23andme.com/news/on-our-way-to-10000-23andme-welcomes-first-members-of-parkinsons-disease-community/">understanding of Parkinson’s Disease</a>. That effort has benefited from a long-standing collaboration with The Michael J. Fox Foundation (MJFF), most recently with the <a href="https://blog.23andme.com/research-communities/october-insights-into-parkinsons-research/">Fox Insight study</a>.
&nbsp;
“These novel associations provide insights into potential causes and contributing factors of Parkinson’s,” explains <a href="https://www.michaeljfox.org/foundation/leaders.html?subcatid=381">Brian Fiske</a>, PhD, Senior Vice President, Research Programs at MJFF. “This information may ultimately help researchers develop new diagnostic tools and treatments.”
&nbsp;
For this latest study, 23andMe researchers were able to leverage our unique research platform. The platform includes both phenotypic and genetic data from millions of customers — some with Parkinson’s and others without it — who have consented to participate in research.  
&nbsp;
<h6>Parkson&#8217;s Associations </h6>
The researchers included data from 13,196 people with Parkinson’s disease as well as data from 131,960 other individuals who do not have the disease. The study revealed that having Parkinson’s disease was associated with 122 phenotypes, 27 of those were previously known to be associated with the disease, and another 23 had a strong a priori link to a known association. 
&nbsp;
But importantly, the researchers discovered 42 associations that have not previously been reported. Furthermore, researchers found that migraines, obsessive-compulsive disorder, and seasonal allergies were associated with Parkinson’s disease. And these phenotypes tended to  occur decades before the typical age of diagnosis for Parkinson’s disease. 
&nbsp;
By better understanding what traits are “flags” for the disease, it may help lead to earlier diagnosis and eventually screening. While this doesn’t mean that just because you have migraines or seasonal allergies, you’ll develop PD. However, it does have the potential to improve risk prediction, as many currently available algorithms simply don’t have enough information. 
&nbsp;
To date, no disease-modifying drug trial for PD has succeeded. This may be because by the time an individual is diagnosed, they have already lost 30-50 percent of the neurons in the substantia nigra (the brain region linked to Parkinson’s disease motor symptoms), and it may be too late to intervene.
&nbsp;
<h6>Hope for Parkinson&#8217;s Disease Early Detection</h6>
But, with a better understanding of earlier disease associations, perhaps we could develop treatments that can help earlier on.
&nbsp;
“The results of this study could prove to be very valuable. The 23andMe data provide us with a unique opportunity to undertake a comprehensive survey of things that might be important to Parkinson’s disease and, in doing so, we find new associations and confirm the importance of previously recognised associations”, said Alastair Noyce, PhD, Clinical Senior Lecturer in the Preventive Neurology Unit at the Wolfson Institute of Preventive Medicine, Queen Mary University of London. “Some of these are features of established disease, but others occur much earlier in life and may prove crucial to the efforts aimed at defining groups at-risk of Parkinson’s disease, who may be eligible for neuroprotective drugs as these become available.”
&nbsp;
The phenotypes that currently comprise the Parkinson’s disease phenome have mostly been explored in relatively small purpose-built studies. Using a single large dataset, the research team has successfully reproduced many of these established associations and have extended the Parkinson’s disease phenome by discovering novel associations. 
&nbsp;
This work paves the way for studies of these associated phenotypes that explore shared molecular mechanisms with Parkinson’s disease, infer causal relationships, and improve our ability to identify individuals at high-risk of Parkinson’s disease.
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New Parkinson’s Disease Research May Offer Promise for Early Detection

By Briana Cameron, Ph.D.,  and Robert Gentleman, Ph.D.* 
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Regular physical activity is important for good health. Research has shown that exercise can help prevent such things as cardiovascular disease and diabetes (<a href="http://www.cmaj.ca/content/174/6/801.short">1</a>, <a href="https://jamanetwork.com/journals/jamainternalmedicine/fullarticle/770017">2</a>). But just how much activity does the average person get? And do people in good health have distinctly different activity patterns compared to those in poor health?<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2019/01/Lark-Finess-Image-300x200.jpg" alt="" class="alignright wp-image-26808 size-medium" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/01/Lark-Finess-Image-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2019/01/Lark-Finess-Image-768x512.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2019/01/Lark-Finess-Image-1024x683.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2019/01/Lark-Finess-Image-880x587.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2019/01/Lark-Finess-Image-1180x787.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />
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To answer those questions, 23andMe researchers initiated a study to look at how age, sex, and BMI are related to differences in physical activity, using step data recorded on smartphones. Customers who consented to participate in this research use their 23andMe iOS app to provide step count data collected through the Apple® HealthKit integration (<a href="https://www.apple.com/ios/health/">3</a>). HealthKit allows iPhone®  users to collate health information on their phones, smartwatches, or apps in a single location; customers participating in research can then allow 23andMe scientists to access and study the data. (Customers can learn about their own contributions by looking at the <a href="https://blog.23andme.com/23andme-research/23andmes-new-research-overview-page/">Research Overview page</a>.) When combined with aggregated and de-identified customer genetic data from others who are participating in research as well as information from 23andMe’s survey-based research program, researchers can start to understand how physical activity is related to different measures of good health.
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<h6>Steps Data</h6>
While these data can be very useful and show us trends in behavior, it is important to acknowledge some of the limitations. The steps data reported on a phone are an imperfect record of a person’s physical activity. There are many different factors that can affect the steps recorded on an iPhone, such as not taking your phone with you every time you walk somewhere or keeping your phone in a backpack or a purse. In addition, the algorithm used to infer steps from the motion detector is not perfect. However, as we show here, the data do align reasonably well with activity levels and, when considered in aggregate over relatively long periods of time, do provide some indications of overall activity level. Many of the concerns affect comparisons between people more than comparisons between time periods for a person.
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Some of what we learned aligns with reasonable expectations. For example, the data show that daily activity patterns do differ between younger and older customers (Figure 1). On average, customers older than 50 (n=7,692) record fewer steps in a day than those under 50 (n=4,898).

<div id="attachment_26934" style="width: 1034px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26934" src="https://blog-api.23andme.com/wp-content/uploads/2019/03/Figure-1-Average-Steps-1024x731.png" alt="" class="wp-image-26934 size-large" width="1024" height="731" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/03/Figure-1-Average-Steps-1024x731.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Figure-1-Average-Steps-300x214.png 300w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Figure-1-Average-Steps-768x549.png 768w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Figure-1-Average-Steps-880x629.png 880w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Figure-1-Average-Steps-1180x843.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Figure-1-Average-Steps.png 1344w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />Figure 1. Average number of recorded steps by day of the week, separated by age</div>
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Figure 2 below shows activity level on an average day for both older (n=7,692) and younger (n=4,898) customers across both weekends and weekdays (solid line indicates weekday average, dotted line indicates weekend average). In this figure, the average number of steps taken in a 15 minute interval is shown in both age groups across weekends and weekdays.
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<div id="attachment_26935" style="width: 1010px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26935" src="https://blog-api.23andme.com/wp-content/uploads/2019/03/Figure-2.-Average-number-of-recorded-steps-in-15-minute-interval-for-customers-for-both-weekends-and-weekdays-separated-by-age.jpg" alt="" class="wp-image-26935 size-full" width="1000" height="563" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/03/Figure-2.-Average-number-of-recorded-steps-in-15-minute-interval-for-customers-for-both-weekends-and-weekdays-separated-by-age.jpg 1000w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Figure-2.-Average-number-of-recorded-steps-in-15-minute-interval-for-customers-for-both-weekends-and-weekdays-separated-by-age-300x169.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Figure-2.-Average-number-of-recorded-steps-in-15-minute-interval-for-customers-for-both-weekends-and-weekdays-separated-by-age-768x432.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Figure-2.-Average-number-of-recorded-steps-in-15-minute-interval-for-customers-for-both-weekends-and-weekdays-separated-by-age-880x495.jpg 880w" sizes="auto, (max-width: 1000px) 100vw, 1000px" />Figure 2. Average number of recorded steps in 15 minute interval for customers for both weekends and weekdays, separated by age.</div>
The weekday activity pattern in the younger age group also shows a stronger dependence on a typical workday schedule; activity peaks are seen in the morning (8-9am), during lunch (12-1pm), and after work (5-6pm) with dips in activity between these points. This pattern is less pronounced in the older group, perhaps due to customers who have already retired and are no longer tied to a typical work schedule. 
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Neither age group adheres to this schedule on weekends, however. For both groups, the increase in recorded steps typically occurs later on the weekends, evidence of a tendency to sleep in on those days. And while the typical weekend patterns looks highly similar between the age groups, younger customers are more likely to be stepping out after midnight than older customers. 
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<h6>Step Differences Among the Sexes</h6>
Observed activity habits also differ between men (n=6,081) and women (n=6,509): 
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<div id="attachment_26936" style="width: 1034px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26936" src="https://blog-api.23andme.com/wp-content/uploads/2019/03/Figure-3-Male-Female-steps-1024x731.png" alt="" class="size-large wp-image-26936" width="1024" height="731" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/03/Figure-3-Male-Female-steps-1024x731.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Figure-3-Male-Female-steps-300x214.png 300w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Figure-3-Male-Female-steps-768x549.png 768w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Figure-3-Male-Female-steps-880x629.png 880w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Figure-3-Male-Female-steps-1180x843.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Figure-3-Male-Female-steps.png 1344w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />Figure 3. Average total daily recorded step count by day for males and females</div>
Men record more steps in a day than women across all days of the week (Figure 3). But these differences may have more to do with differences in phone use between sexes, and not necessarily that men are more active than women. Women, for example, may be less likely to have pockets and may be more likely to leave their phones on a desk or table, which would also decrease the number of recorded steps. In general, both sexes tend to follow the same general trend, with Sundays typically being the day with the least amount of activity recorded. Activity tends to be fairly consistent throughout the weekdays. Weekend activity (Friday and Saturday) tends to be highest for both sexes. 
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<h6>Steps, BMI and Exercise Frequency</h6>
Our researchers also saw distinct differences in activity between customers with different BMI (Figure 4). To study the association between activity levels and BMI, customers were classified as normal weight, overweight, or obese by NIH standards (<a href="https://www.nhlbi.nih.gov/health/educational/lose_wt/BMI/bmi_dis.htm">4</a>). A weekly average for total daily recorded steps was assessed for each week from November 2017 until January 2019 for each BMI category.
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<div id="attachment_26937" style="width: 1034px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26937" src="https://blog-api.23andme.com/wp-content/uploads/2019/03/Figure-4-Steps-by-BMI-1024x731.png" alt="" class="wp-image-26937 size-large" width="1024" height="731" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/03/Figure-4-Steps-by-BMI-1024x731.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Figure-4-Steps-by-BMI-300x214.png 300w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Figure-4-Steps-by-BMI-768x549.png 768w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Figure-4-Steps-by-BMI-880x629.png 880w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Figure-4-Steps-by-BMI-1180x843.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Figure-4-Steps-by-BMI.png 1344w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />Figure 4. Average total daily recorded step count by day for each BMI classification </div>
Customers falling into the obese category (n=4,245) tend to record lower daily step counts than customers who are either overweight (n=4,295) or normal weight (n=3,535). While the difference between overweight and normal weight customers is smaller, customers of a normal weight BMI show the highest average recorded step count. 
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Another interesting aspect is the role of seasonality. For all BMI classifications, activity tends to be slightly lower around the holidays (late December &#8211; early January) with increased activity during the rest of the year. This increased activity is more evident in both the normal weight and overweight groups; the obese BMI group shows a slightly more stable activity pattern throughout the year. With only one year of data collected, however, more data will be needed to study the consistency of this observed trend and the role that season may play in activity level across different BMI classifications. 
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Finally, the relationship between self-reported exercise frequency and the average total daily step count on weekdays was explored (Figure 5).
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<div id="attachment_26938" style="width: 1034px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26938" src="https://blog-api.23andme.com/wp-content/uploads/2019/03/Steps-by-reported-exercise-1024x731.png" alt="" class="size-large wp-image-26938" width="1024" height="731" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/03/Steps-by-reported-exercise-1024x731.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Steps-by-reported-exercise-300x214.png 300w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Steps-by-reported-exercise-768x549.png 768w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Steps-by-reported-exercise-880x629.png 880w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Steps-by-reported-exercise-1180x843.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2019/03/Steps-by-reported-exercise.png 1344w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />Figure 5: Average daily steps by self-reported exercise frequency</div>
As expected, customers who report exercising more frequently have a higher average daily step count. This agreement suggests that using phone-based step counts may be a good measurement of general activity level.
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The integration of self-reported health information and measures of activity, such as step count, provides an interesting opportunity for researchers to understand how physical activity is related to other aspects of health and wellness. Studying trends in activity over time can help researchers pinpoint the activity patterns of healthy people, and move closer to understanding what changes in activity can be made to improve health and well-being. In addition, while studying the activity patterns of a general population may lead to interesting insights, it may be possible to study activity and mobility among people with certain health conditions, such as arthritis, to see how movement may be related to symptom severity. 
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While providing a large amount of near-continuous activity data, phone-based collection of movement is subject to certain limitations that should be addressed. Not all people consistently carry their phone with them, and these differences in phone-use behaviors may limit the comparability of movement patterns between individuals. Furthermore, issues such as battery life and variations in step count algorithms between different devices may create further challenges in making precise statements about activity patterns. Even with these limitations, however, the use of mobile devices to track activity presents a unique opportunity for researchers to observe a much more complete picture of activity than is usually captured via other data collection methods.
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IOS is a trademark or registered trademark of Cisco in the U.S. and other countries. Apple, iPhone and HealthKit are trademarks of Apple Inc., registered in the U.S. and other countries.
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*Robert Gentleman, Ph.D., is 23andMe&#8217;s vice president of computational biology. Briana Cameron is a scientist in Biostatistics at 23andMe.

Briana Cameron

Step it up for Research

March is Women’s History Month, a time to recognize the extraordinary achievements, courage, persistence, and contributions of women worldwide. This is the second profile of some of the women at 23andMe who inspire us each day. <img loading="lazy" decoding="async" class="alignright size-medium wp-image-22641" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/@PITER-23andMe-EmilyDrabant-19-200x300.jpg" alt="" width="200" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/06/@PITER-23andMe-EmilyDrabant-19-200x300.jpg 200w, https://blogcms.23andme.com/wp-content/uploads/2015/06/@PITER-23andMe-EmilyDrabant-19-768x1152.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/06/@PITER-23andMe-EmilyDrabant-19-683x1024.jpg 683w, https://blogcms.23andme.com/wp-content/uploads/2015/06/@PITER-23andMe-EmilyDrabant-19-587x880.jpg 587w, https://blogcms.23andme.com/wp-content/uploads/2015/06/@PITER-23andMe-EmilyDrabant-19-787x1180.jpg 787w, https://blogcms.23andme.com/wp-content/uploads/2015/06/@PITER-23andMe-EmilyDrabant-19-scaled.jpg 1707w" sizes="auto, (max-width: 200px) 100vw, 200px" />
Even in her busy position as 23andMe’s Vice President of Business Development, Emily Drabant Conley never forgets what inspired her way back in high school.
It was during her first job working as a swimming coach for autistic children. Working with these kids, learning about developmental disorders and differences in behavior, pushed her to learn more. It’s what sparked her interest in understanding developmental disorders and psychiatric illnesses as a psychology major at Vanderbilt University. That early exposure to autistic children shaped her passion for science and led her to study neuroscience at Stanford as a graduate student and ultimately brought Emily to 23andMe. Emily joined our small but mighty team in 2010. She came with deep experience conducting research that combined genetics and neuroimaging to understand diseases of the brain, and she initially joined 23andMe to manage our nascent Parkinson’s Research Community. Emily helped to build that community into the largest cohort of genotyped patients with Parkinson’s disease in the world, and the groundbreaking work she’s done helped to form a template for the creation of several other disease research communities we’ve since set up. Since then, Emily has risen the ranks to serve as our Vice President of Business Development. In this role, she has helped lead many of the company’s major research collaborations. Combining her business acumen with her deep scientific knowledge, Emily has been instrumental in spearheading our collaborations with many biotechnology companies such as GlaxoSmithKline, Genentech and Pfizer. These collaborations fuel research discoveries. To date, Emily has also authored more than thirty peer reviewed scientific publications on a wide variety of topics including opioid dependence, Parkinson’s disease, depression risk and general cognitive ability. In addition to the many responsibilities in her current role, Emily is also the executive sponsor of 23andMe’s Diversity and Inclusion Committee.
Beyond 23andMe, she previously served on the Advisory Board of the UCSF Alliance Health Project, a clinic that provides services to the LGBT and HIV-affected communities in San Francisco. She also currently serves on the Board of Lesbians Who Tech, an organization seeking to improve representation of women and lesbians in technology.
Before joining 23andMe, she told Anne, our CEO, that she was disillusioned by the slow pace of science in academia. Emily wanted to do something bigger, to accelerate the pace of research and create a new model for genetic research. Emily’s energy, her knowledge of science, and skill working with people has fueled her successes at 23andMe. She, like all the women making strides at the company, is why 23andMe is honoring Women’s History Month.
<h6>Be Inspired</h6>
What joins these women together, beyond the work they do here, is their thirst for knowledge and their optimism about the future. That’s what 23andMe is built on. And as we take a moment to recognize Women’s History Month and the incredible achievements made by women around the world, we all take inspiration from those examples and the everyday examples of other women we featured on the blog this month like our VP of Research Joyce Tung, Director of Health Product Shirley Wu, and now Emily — as well as the many other women here at 23andMe. We hope their stories help encourage others to truly realize that anyone can be a scientist.

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