Sunscreen? Check. 
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2012/07/Airplane-300x199.jpg" alt="airplane" class="alignright size-medium wp-image-14471" height="199" width="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/07/Airplane-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/07/Airplane.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />

Paperback? Check.
Meds?&#8230;
Traveling with Inflammatory Bowel Disease (IBD), the umbrella diagnosis that includes Crohn’s disease and ulcerative colitis, can be complicated but it doesn’t have to be with a little planning.
Before you head out on summer vacation, we’ve compiled a tip sheet.
Some of these ideas are pretty obvious and are probably already part of the daily routine for people with IBD.
But a little preparation goes a long way to ensuring both fun and safe travels. 
Prepare before you go, which means talking to your doctor. Your healthcare team is going to know you and your symptoms and what specific advice works for you. The Centers for Disease Control recommends travelers make this visit more than six weeks before any long trip.
This gives you and your doctor time to review things like immunization records and ensure you are up to date on the appropriate shots.
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">Here’s a quick checklist for your IBD road trip survival kit: 
 § medication (in the original bottles) 
 § OTC antacids and anti-diarrheals 
 § Toilet paper and moist wipes 
 § Hand sanitizer and sanitizing wipes 
 § Change of clothes 
 § Protein or granola bar(s) 
 § Bottled water 
 § Map of travel route (if traveling by car) to allow for rest-stop planning 
 § Insurance card and if possible a letter from your doctor regarding your condition (in case of emergencies). 
 § CCFA also has a “I can’t wait card” available to it’s members. Learn more here.</div>
Your doctor will also be able to help you go through the medication, if any, that you are using for your condition and ensure that you have enough to last through your trip. In addition, he or she may also take into consideration where you are going, and how you are getting there, to make suggestions about other medication that you may want to have with you.
You should pack your medications in your carry on luggage and not have it checked in, just in case your baggage is lost. Your doctor may also recommend a contingency plan for a prescription in case your medication is lost or stolen.


Traveling when you have IBD also means you may have to take some matters into your own hands, like reviewing TSA air travel restrictions and making sure that you know what you can and can’t bring with you. The Crohn’s &amp; Colitis Foundation has put together a TSA FAQ to help you wade through some of that.


Some other helpful resources

<a href="https://www.sitorsquat.com/" target="_blank" rel="noopener">Sitorsquat.com</a> 
Charmin-sponsored bathroom location app that allows visitors to search, view, report, rate, and add bathrooms.
GI Monitor 
A symptom-logging application for patients with IBD (Inflammatory Bowel Disease), Crohn’s disease or ulcerative colitis, which allows patients to easily and accurately log symptoms and provide this data to their doctors for optimal treatment. In addition, patients can see correlations between symptoms, meals and medications.

23andMe Blog

23andMe Blog Team

IBD Travel Tips

In less than a year’s time, 23andMe is more than halfway to its goal of enrolling 10,000 patients in its study of <img loading="lazy" decoding="async" class="alignright size-medium wp-image-22439" src="https://blog-api.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_ibd-300x300.png" alt="04092015_communityBadge_ibd" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_ibd-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_ibd-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_ibd-768x768.png 768w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_ibd-880x880.png 880w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_ibd-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_ibd-372x372.png 372w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_ibd-574x574.png 574w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_ibd-980x980.png 980w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_ibd.png 1000w" sizes="auto, (max-width: 300px) 100vw, 300px" />affect the condition.
As we recognize <a href="http://www.worldibdday.org/" target="_blank" rel="noopener noreferrer">World IBD Day</a> May 19th, we wanted to update you on our progress in recruitment and share some of what we’ve learned from those who have already enrolled. We have also expanded our enrollment so that existing 23andMe customer diagnosed with IBD can join this study.
Learn more about <a href="https://www.23andme.com/ibd/" target="_blank" rel="noopener noreferrer">how to enroll</a>.
IBD is an umbrella diagnosis that includes Crohn’s disease and ulcerative colitis – two serious and chronic digestive diseases that affect about five million people worldwide.
With symptoms that can be both painful and embarrassing, the disease often leaves patients isolated and alone. World IBD Day is meant to raise awareness, offer solidarity among patients and advocate for more research to find a cure.
That’s just what 23andMe and Pfizer hope to do with the IBD study, teaming up to learn more about what genetics can teach about the progression of the disease and why certain medications work for some patients and not others.
We still have a lot of work to do but from our initial surveys, we’ve already learned a lot about what our participants have to deal with every day.
When participants join the study, they are asked to complete a short survey describing their symptoms and history with the conditions. We will soon ask participants to come back and fill out the survey again a few months down the line as a way to track any changes in their condition. This will allow researchers to learn how the disease progresses differently in different people.
For some participants, having IBD means almost constant discomfort, since about 30 percent reported they are either in pain all the time or most of the time. And for just over 10 percent of participants, the pain is ranked at a nine or 10 on a scale of zero to 10. While about a third of the participants have regular flare-ups – which might include digestive problems, stomach pain, joint pain, swelling, anemia or even eye pain – a quarter of participants said they haven’t had any issues in the last year.
We share all this mostly to convey some of the real struggles faced by those with IBD. Our IBD community is growing and we will continue to engage with participants by offering tips and updates. (Check out our IBD Travel Tips post <a href="https://blog.23andme.com/articles/ibd-travel-tips" target="_blank" rel="noopener noreferrer">here</a>, for ideas on how to prep for your summer vacation if you suffer from IBD.)
In March, we hosted a Google hangout with the non-profit Crohn’s Journey Foundation founder, Sarah Choueiry. If you missed it, you can <a href="https://www.youtube.com/watch?v=b178MDMX2Mc" target="_blank" rel="noopener noreferrer">watch the video.</a>
Stay tuned for more updates on our IBD research.

World IBD Day And Research

World Records often involve peril and great feats of courage, and in a way A.J. Jacobs’ plan to stage a <a href="http://globalfamilyreunion.com/" target="_blank" rel="noopener noreferrer">Global Family Reunion</a> in New York City this June is a kind of daring <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2014/09/aj_about-291x300.jpg" alt="aj_about" class="alignright size-medium wp-image-21667" height="300" width="291" srcset="https://blogcms.23andme.com/wp-content/uploads/2014/09/aj_about-291x300.jpg 291w, https://blogcms.23andme.com/wp-content/uploads/2014/09/aj_about.jpg 301w" sizes="auto, (max-width: 291px) 100vw, 291px" />tightrope walk of its own.
The daylong event – which the <a href="http://globalfamilyreunion.com/" target="_blank" rel="noopener noreferrer">New York Times</a> recently described as “part TED talk, part Coachella and part family picnic” – is billed as the largest family reunion ever.
AJ has put together an event that sprinkles in a little science, a little fun and a lot of socializing. Among the featured speakers are Harvard Professor Henry Louis Gates Jr., who is also a host of the PBS show <a href="https://www.pbs.org/wnet/finding-your-roots/" target="_blank" rel="noopener noreferrer">“Finding Your Roots&#8221;</a>, the documentarian Morgan Spurlock, and performances by the illusionist David Blaine and the group Sister Sledge.
If A.J., an editor at large at Esquire and good <a href="https://blog.23andme.com/23andme-customer-stories/all-in-the-family/" target="_blank" rel="noopener noreferrer">friend of 23andMe</a>, pulls it off, it will clearly be one for Guinness’s record book, but more than that the reunion also marks a sea change in the use of genetic testing for genealogical purposes. This direct to consumer genetic testing thing is really here to stay.
There’s also a point to the reunion beyond just setting a record. As A.J. has said both here on our blog but also in his well-received talks, we’re all family.
“I want to remind people that we are, in fact, one big family,” A.J. told the Times. “We do share 99.9 percent of our DNA, and that we need to treat each other with a little more kindness.”


There are still tickets available with money from the event going toward Alzheimer’s disease research. 23andMe will be on hand as well.
So if you plan to be in New York City on June 6 why don’t you drop in on some family?


(Ed’s note: A.J. really wants to connect with you if you are a 23andMe customer and are signed on you can connect with him <a href="https://www.23andme.com/user/?community_profile=2c85e926031b871d" target="_blank" rel="noopener noreferrer">here</a>. In addition, A.J. has been generous enough to offer a discount for 23andMe customers. You can go <a href="https://globalfamilyreunion.eventbrite.com/?discount=23ANDME" target="_blank" rel="noopener noreferrer">here</a> and get 25 percent off tickets.)

<div style="float: center; text-align: justified; width: 600px; background-color: #eeeeee; padding: 15px; margin-left: 10px;"><img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2015/05/global-family-reunion.jpg" alt="global family reunion" class="alignright size-full wp-image-22488" height="51" width="140" /> 
<a href="http://globalfamilyreunion.com/" target="_blank" rel="noopener noreferrer">GLOBAL FAMILY REUNION</a> 
The Day the World Connects</div>
<div style="float: center; text-align: justified; width: 600px; background-color: #eeeeee; padding: 15px; margin-left: 10px;">
WHAT: The largest, most inclusive, most fascinating family reunion in history. 
WHO IS INVITED: All members of the human family.</div>
<div style="float: center; text-align: justified; width: 600px; background-color: #eeeeee; padding: 15px; margin-left: 10px;">
AGENDA: The Reunion will have TED-style talks from scientists, genealogists and entertainers about every aspect of family, including DNA, genealogy and personal stories. There will be music, comedy, games, exhibits, food and booths. And the world’s largest family photo.</div>
<div style="float: center; text-align: justified; width: 600px; background-color: #eeeeee; padding: 15px; margin-left: 10px;">
WHEN: June 6, 2015 (all day long)</div>
<div style="float: center; text-align: justified; width: 600px; background-color: #eeeeee; padding: 15px; margin-left: 10px;">
WHERE: The New York Hall of Science, on the grounds of the historic World’s Fair. 
THE CAUSE: Proceeds from the event will benefit the Cure Alzheimer’s Fund and the Alzheimer’s Association NYC.</div>
<div style="float: center; text-align: justified; width: 600px; background-color: #eeeeee; padding: 15px; margin-left: 10px;">
THE BOOK AND MOVIE: The Global Family Reunion will be featured in a book by bestselling author A.J. Jacobs and a documentary by Morgan Spurlock (Supersize Me).
</div>

Family Reunion Time

<div id="attachment_22440" style="width: 310px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22440" class="wp-image-22440 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_lupus-300x300.png" alt="04092015_communityBadge_lupus" height="300" width="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_lupus-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_lupus-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_lupus-768x768.png 768w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_lupus-880x880.png 880w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_lupus-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_lupus-372x372.png 372w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_lupus-574x574.png 574w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_lupus-980x980.png 980w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_lupus.png 1000w" sizes="auto, (max-width: 300px) 100vw, 300px" />Find out more about the Lupus study <a href="https://www.23andme.com/lupus/">here</a>.</div>
<a href="https://blog-api.23andme.com/wp-content/uploads/2015/05/communityBadge_lupus.pdf">Download Lupus Community Research Badge Image</a>

Learn More About 23andMe’s Lupus Study

23andMe, Pfizer, Inc. and the <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_lupus-300x300.png" alt="04092015_communityBadge_lupus" class="alignright size-medium wp-image-22440" height="300" width="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_lupus-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_lupus-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_lupus-768x768.png 768w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_lupus-880x880.png 880w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_lupus-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_lupus-372x372.png 372w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_lupus-574x574.png 574w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_lupus-980x980.png 980w, https://blogcms.23andme.com/wp-content/uploads/2015/05/04092015_communityBadge_lupus.png 1000w" sizes="auto, (max-width: 300px) 100vw, 300px" />on the genetics of the autoimmune disease known as lupus.


The aim is to quickly enroll 5,000 people with the disease, which affects about 1.5 million people in the United States alone.


“The ability to effectively personalize treatments for lupus patients is limited, due in large part to our incomplete understanding of the disease,&#8221; said 23andMe CEO and co-founder Anne Wojcicki. &#8220;We hope to change that by studying human genetics alongside environmental and health history factors to ultimately help inform better treatment options for lupus patients.”
Recruitment for the study begins this month, which is also Lupus Awareness Month.
The disease is characterized by the body’s immune system attacking normal, healthy tissues almost anywhere in the body. People with lupus might have symptoms that include inflammation of the joints, or skin rashes, sores or damage to the kidneys, or heart or lungs.
While there is no cure for the disease and it isn’t very well understood, researchers know some factors linked to the disease. They know that there are both environmental and genetic factors involved, and hormones also play a role. 
The research to be lead by 23andMe will focus on genetic factors, but it will also incorporate data from participants’ medical records and look at how the disease progresses over time. The hope is that this research will uncover some of the genetic causes for lupus that could indicate onset of the disease, how it progresses and how patients respond differently to different treatments.
“Pfizer is committed to bringing forward new treatments for patients suffering from lupus,” said Belen Carrillo-Rivas, D.Phil., Head of Research &amp; Development Innovation Projects, BioTherapeutics Research &amp; Development, Pfizer. “By enhancing our understanding of the underlying biology of the disease, we hope to better support our clinical research activities and development programs.”
For the lupus study, 23andMe will recruit new participants as well as conduct outreach to existing customers, who once determined eligible, will be required to provide consent to participate in this new project. Recruitment of eligible study participants is expected to be completed by mid 2016.
For more information, including eligibility requirements for joining the study, please visit https://www.23andme.com/lupus/.

23andMe Launches Lupus Research Community

Some of us are just tastier, or at least to mosquitoes.
Just in time for summer, a <a href="http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0122716" target="_blank" rel="noopener noreferrer">new study</a> of twins by researchers at the London School of Hygiene &amp; Tropical Medicine, found that genetics may play a role in why some of us get bit more often by mosquitoes than others.


Beyond being the bane of summer evening barbeques, mosquitoes also spread deadly diseases like malaria and dengue fever. This kind of research could help in efforts to protect those most vulnerable, according to the researchers.
“By investigating the genetic mechanism behind attractiveness to biting insects such as mosquitoes we can move closer to using this knowledge for better ways of keeping us safe from bites and the diseases insects can spread through bites,” <a href="http://www.lshtm.ac.uk/newsevents/news/2015/twins_mosquito_study.html">said coauthor James Logan</a>, a medical entomologist at the London School of Hygiene &amp; Tropical Medicine.
To test what makes two people more or less attractive to mosquitoes the researchers unleashed dozens of the bugs on both identical and non-identical twins.
The researchers didn’t actually allow the mosquitoes to bite the participants, merely smell them. The researchers used something called a “Y-tube olfactometer,” which allowed mosquitoes to fly down one chamber or another in choosing between two people based on their body odor. The participants were also asked to avoid alcohol, garlic, and other strongly spiced foods for 24 hours prior to the test to ensure those strong smelling foods didn’t play a role.


The mosquitoes showed no preference in the case of identical twins – who are genetically identical. But in the case of the non-identical twins they clearly picked one twin over the other.

<iframe loading="lazy" width="640" height="360" src="https://www.youtube.com/embed/8Es9SUECPlc" frameborder="0" allowfullscreen="allowfullscreen"></iframe>
“Twins that were identical were very similar in their level of attractiveness to mosquitoes, and twins that were [not identical] were very different in their level of attractiveness,” Logan told <a href="https://www.npr.org/blogs/health/2015/04/22/401469931/why-do-mosquitoes-like-to-bite-you-best-its-in-your-genes" target="_blank" rel="noopener noreferrer">National Public Radio</a>.
The researchers concluded that the test suggested that there is a genetic trait for being “attractive” or “unattractive” to mosquitoes.
This isn’t the first time scientists have delved into the realm of <a href="https://blog.23andme.com/23andme-research/bug-bite-genetics/" target="_blank" rel="noopener noreferrer">bug bite genetics</a>.
Not long ago, researchers here at 23andMe looked at the genetics behind the different reactions people had to mosquito bites, finding an association between different genotypes on the SNP , which is on chromosome 4. People of European ancestry who are AA at that SNP are more likely to have larger bites. Those who are AC have average size bites, while those who are CC have smaller bites.


Overall about 41 percent of customers who’ve consented to research and responded to the survey said they get bit more often than others and 30 percent said when they were bit the bites were bigger and itched more than in other people.
The focus of research on the pests could help stop the spread of disease.


“If we understand the genetic basis for variation between individuals it could be possible to develop better ways to control mosquitoes, and develop new ways to repel them,” said Logan. “In the future we may even be able to take a pill which will enhance the production of natural repellents by the body and ultimately replace skin lotions.”

Itchy and Scratchy Genetics

There’s nature and nurture and then there’s all that bickering – or lack of it – with our brothers or sisters.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2015/04/Slide11-300x169.jpg" alt="Slide1" width="300" height="169" class="alignright size-medium wp-image-22426" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/04/Slide11-300x169.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/04/Slide11.jpg 720w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Birth order, and the family dynamic between siblings – or whether or not you have siblings – plays a role in determining who we become as people.
So in honor of National Sibling Day, which was a few weeks back, one of our scientists, Aaron Kleinman, looked at what our data could tell us about how birth order and family size influence us.
First off, it is pretty clear that it does make a difference if you were born an only child, or were the first, or last or middle child in a family, according to 23andMe data. Aaron found that being older or younger affects measures of intelligence and personality, impacting things like whether you’re more likely to have taken advanced math or whether you are more agreeable and altruistic.
This is all well-trod territory, with plenty of studies over the years looking at birth order and its influence on everything from <a href="http://pss.sagepub.com/content/10/6/482.short" target="_blank" rel="noopener noreferrer">personality traits</a> to <a href="http://www.sciencemag.org/content/316/5832/1717.short" target="_blank" rel="noopener noreferrer">intelligence</a> and health. Some of those studies confirm the stereotypes we have about first and last born children, and some – like its influence on allergies or the risk for cancer – are harder to peg.
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">Some Birth Order Findings
A First Born Child 
&#8211; Tends to start reading earlier 
&#8211; Tends to take more advanced math classes 
&#8211; Tends to be less tactful
A Last Born Child 
&#8211; Tends to be more altruistic 
&#8211; Tends to be less tense 
&#8211; Is more likely to own a dog
An Only Child 
&#8211; Tends to start reading earlier 
&#8211; Is more likely to learn another language as an adults 
&#8211; Is less likely to be able to do a cartwheel
</div>
Ever since Cain and Abel, there has been a fascination with sibling relationships. And with that interest come some well known clichÃ©s – the luster of the smart and driven first born, the carefree and crafty youngest child and the middle kid who is just trying to keep the peace.
But there has also been some interesting science around sibling relationships and birth order and what influence it has on development.
One of our <a href="http://psr.sagepub.com/content/early/2010/04/28/1088868310361241.abstract" target="_blank" rel="noopener noreferrer">favorite studies</a> looked at differences between 700 brothers who played in Major League Baseball. The data showed that younger brothers attempted to steal bases way more than their older brothers. The study, by researchers at UC Berkeley and Guilford College, tended to support the evolutionary theory that younger siblings are more likely to be risk takers. The theory is that the youngest sibling has to fight harder and be a little craftier to get his or her parents’ attention.
In our data Aaron also found that birth order affects personality, and although we didn’t see anything about base stealing, 23andMe data showed that younger siblings were less tense, more agreeable and more altruistic than their older siblings.
But studying these kinds of differences among siblings can be tricky, said Aaron.
In other words, some of the differences might be more a reflection of why the family is big or small as opposed to whether a child is older or younger. For example, it may be that people who are religious tend to have big families. So to control for family size and other things, Aaron ran several different analyses, all using data from 23andMe customers of European ancestry who’d consented to research. Aaron did things like restrict the customers he looked at to those who had precisely one sibling and then looked at the effect of being the first-born versus the last-born.
Aaron found that the 23andMe data confirms what some others studies have said about first-borns being <a href="http://www.nber.org/papers/w19542" target="_blank" rel="noopener noreferrer">smarter</a>. Or more specifically, 23andMe data showed that first-born kids read earlier and take more advanced math classes.
But other findings in the 23andMe data were for things we hadn’t seen before.
Aaron found a correlation between birth order and taste. Those who had fewer older siblings were more likely to enjoy cilantro and dark chocolate, for instance. We couldn’t explain that one with evolutionary theory.
Another odd correlation shows that younger siblings were more likely to be able to whistle and own a dog.
Not wanting to leave anyone out, Aaron also looked at only children. He found that they were more likely to have learned another language and less likely to be able to do a cartwheel.
This focus on you family dynamic is helpful for researchers here at 23andMe as they try to sort out the interplay of genetics and environment for various conditions.

Sibling Rivalry

Along with having some very talented scientists and engineers on staff, 23andMe is lucky to have some customers who are equally accomplished.
<div id="attachment_22394" style="width: 297px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22394" class="size-medium wp-image-22394" src="https://blog-api.23andme.com/wp-content/uploads/2015/04/Ann_cropped_modified-287x300.jpg" alt="Dr. Ann Turner, MD" width="287" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/04/Ann_cropped_modified-287x300.jpg 287w, https://blogcms.23andme.com/wp-content/uploads/2015/04/Ann_cropped_modified.jpg 355w" sizes="auto, (max-width: 287px) 100vw, 287px" />Dr. Ann Turner, MD</div>
One of those is Dr. Ann Turner, a 23andMe Ancestry Ambassador and physician. Ann was recently listed as a co-author on <a href="http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1005137" target="_blank" rel="noopener">a paper</a> published by researchers from the University of Iowa about a genetic variant involved in hearing loss. It turned out to be in a gene that was not even known to be important for the sense of hearing.
“My main contribution was recruiting enough cousins to isolate the segment that must of necessity harbor the mutation,” said Ann.
What’s inspiring is that the impetus for this research was Ann’s own quest to learn about the genetics behind her and her family’s hearing impairment.
Her own hearing loss started in childhood and got progressively worse over time. She’s been wearing hearing aids for 40 years now. Worldwide hearing impairment impacts over five percent of the population, or about 360 million people. Although many different genetic mutations are involved in hearing loss, in this case the researchers were able to isolate a single mutation involved in this one family’s loss of hearing.
Ann’s own <a href="https://blog.23andme.com/articles/tracking-down-a-trait" target="_blank" rel="noopener">personal search</a> of the genetics behind the trait included work going back more than 20 years. She used traditional genealogical techniques to trace hearing loss back 200 years in her family to an ancestor named John Riley, who was born in 1813. One of her relatives, James Riley, a Civil War veteran, died from a fall after failing to hear a warning from a co-worker that the scaffolding he was on was not secure.
<div id="attachment_22396" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22396" class="size-medium wp-image-22396" src="https://blog-api.23andme.com/wp-content/uploads/2015/04/HOMER2_pedigree-300x162.jpg" alt="This is a pedigree Ann did of her family showing how tracing the mutation through generations of her family." width="300" height="162" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/04/HOMER2_pedigree-300x162.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/04/HOMER2_pedigree.jpg 679w" sizes="auto, (max-width: 300px) 100vw, 300px" />This is a pedigree Ann did of her family showing how tracing the mutation through generations of her family.</div>
Beyond paper records and family trees, Ann also used her and her cousins’ 23andMe results to try and track down the genetics behind their hearing condition. She participated in 23andMe’s exome pilot project a few years ago. This allowed her to obtain the sequence data for all the coding regions of all genes, and she was in turn able to use that data to point to candidate mutations possibly involved in her family’s hereditary hearing loss. “Even though this type of testing is not designed to discover rare or novel mutations, I could roughly narrow down the chromosomal region where the mutation must be located,” Ann said. By looking at her and her family member’s data she was able to identify places where only those with hearing loss shared DNA segments.
“It finally boiled down to just one region by the time all of our results were compared. I wrote about this in a blog post for 23andMe,” she said. The candidate mutation is in the HOMER2 gene. Following up on that work, researchers at the University of Iowa did what are called “functional studies” looking at how that specific genetic mutation affected zebrafish and mice in the lab. The researchers initially found that the loss of function of HOMER2 gene caused by this mutation led to changes in hair cells in the lateral line organ of the zebrafish, which detects movement in the surrounding water. In an email Ann sent to the family members who participated in the research she referenced what researchers did next in their study of mice.
“When (the researchers) did a &#8220;knockdown&#8221; of the HOMER2 gene (made it completely non-functional), the mice developed an early onset hearing loss. It was progressive and started in the high frequencies first, just like our family,” she told her family.
“Our data offer novel insights into gene pathways essential for normal auditory function and the maintenance of cochlear hair cells,” according to the paper’s authors. For Ann the finding was both illuminating for her own family’s condition, but also interesting from her point of view as a scientist. “I have a sense of wonder at how this study illustrates the unity of life, with changes in the lateral line organ in fish confirming the functional effect of the mutation,” she said. Ann adds that other families may be able to use 23andMe tests to help identify the cause of some genetic trait or condition.
For Ann the finding was both illuminating for her own family’s condition, but also interesting from her point of view as a scientist.
“I have a sense of wonder at how this study illustrates the unity of life, with changes in the lateral line organ in fish confirming the functional effect of the mutation,” she said. Ann adds that other families may be able to use 23andMe tests to help identify the cause of some genetic trait or condition.
The candidate mutation is in the HOMER2 gene. Following up on that work, researchers at the University of Iowa did what are called “functional studies” looking at how that specific genetic mutation affected zebrafish and mice in the lab. The researchers initially found that the loss of function of HOMER2 gene caused by this mutation led to changes in hair cells in the lateral line organ of the zebrafish, which detects movement in the surrounding water. In an email Ann sent to the family members who participated in the research she referenced what researchers did next in their study of mice.
“When (the researchers) did a &#8220;knockdown&#8221; of the HOMER2 gene (made it completely non-functional), the mice developed an early onset hearing loss. It was progressive and started in the high frequencies first, just like our family,” she told her family.

Citizen Scientist

Things aren’t always as they seem with Parkinson’s disease with one recent study showing as many as half those diagnosed with the disease don’t have it, according Dr. J. William Langston.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-12362" src="https://blog-api.23andme.com/wp-content/uploads/2012/04/Langston-252x300.jpg" alt="Langston" width="252" height="300" />
At a recent visit to 23andMe, Langston, a pioneering Parkinson’s researcher as well as the founder and chief science officer of the <a href="http://www.thepi.org/" target="_blank" rel="noopener noreferrer">Parkinson’s Institute</a>, gave a quick overview not just of the challenges around diagnosing the disease but also some of the more hopeful recent findings.
Both a friend of 23andMe and a scientific advisor for 23andMe’s <a href="https://www.23andme.com/pd/#section4" target="_blank" rel="noopener noreferrer">Parkinson’s research community</a>, Langston’s presentation offered scientists here a quick overview of the shifting understanding of Parkinson’s.
The traditional view is that Parkinson’s is a movement disorder triggered by a loss of dopamine containing neurons in the substantia nigra, a particular region of the brainstem. But because diagnosis is so difficult, sometimes people with Parkinson’s-like symptoms are misdiagnosed with the disease itself.
In truth, a definitive diagnosis for the disease requires a post-mortem examination to confirm the presence of abnormal protein deposits in the brainstem called “Lewy bodies.” These clumps are loaded with a protein called alpha-synuclein. One promising development in the effort for diagnosis are new techniques for detecting alpha-synuclein, and related structures known as neurites. What’s also been interesting is that scientists have found alpha-synuclein deposits not just in the brainstem, but in other regions of the brain as well as the gut and heart. These same regions may be associated with non-motor symptoms that Parkinson’s patients deal with including such things as a change in their sense of smell, constipation or sleep disturbances.
Like many diseases, the earlier it is diagnosed the better the outcome for patients. Even though there is no cure for Parkinson’s there are treatments and interventions that can manage some of the symptoms and help patients maintain their quality of life. But diagnosis – especially early on – is very poor.
To illustrate that point, Langston, who has been a long time scientific adviser to 23andMe Parkinson’s research community, cited a recent study showing about half of the cases were misdiagnosed. The study was of patients who’d died within five years of being diagnosed with Parkinson’s, but autopsies of the patients revealed that about 50 percent didn’t have the disease. This has enormous implications for research especially clinical trials of disease modifying therapies, which need to recruit patients early in the disease process.
An extensive review of Parkinson’s disease genetics that Langston and his collaborators recently submitted for publication suggests that this confusion is not limited to clinical diagnosis. Looking at 31 different genetic markers associated with inherited Parkinson’s, his team found that only three have been shown to also be associated with the classic pathological features of Parkinson’s. In addition, researchers have found in doing autopsy on patients that even those who share the same genetic marker (one associated with Parkinson’s disease) the kind of protein bodies found in their tissue and where they are found, can be very different.
To try and manage this confusing situation Langston and his colleagues proposed the name  Multisystem Lewy Body Disease (brain, spinal cord and peripheral autonomic nervous system) to better reflect what the researchers have found.
Despite all of this, Langston said that there are promising new diagnostic and treatment tools currently in development.

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