Researchers identified more than a hundred genetic regions associated with neuroticism, a trait used to gauge personality that is also associated with risk factors for depression and schizophrenia.
For this, the largest study ever done on neuroticism, scientists used data from many studies in what researchers call a “meta-analysis.” 
Altogether the study includes data from almost half a million people, including from 23andMe customers who consented to participate in research.The study led by<a href="https://ctg.cncr.nl/people/danielle_posthuma"> Danielle Posthuma</a>, a statistical geneticist at the Vrije Universiteit Amsterdam, identified 136 genes associated with neuroticism. 
“Neuroticism is an important risk factor for depression,” said Posthuma. “Hence, insights into the biological mechanisms underlying neuroticism may eventually be informative for the development of drugs to treat depression. Our study is the most comprehensive study into the genetics and biological mechanisms of neuroticism to date, and provides very specific starting points for follow-up studies.”
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/06/Brain-e1529951057892-300x254.jpg" alt="" class="alignright wp-image-26298 size-medium" width="300" height="254" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/06/Brain-e1529951057892-300x254.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2018/06/Brain-e1529951057892-768x651.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2018/06/Brain-e1529951057892-1024x868.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2018/06/Brain-e1529951057892-880x746.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2018/06/Brain-e1529951057892-1180x1000.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2018/06/Brain-e1529951057892.jpg 1395w" sizes="auto, (max-width: 300px) 100vw, 300px" />The study, published in the journal <a href="https://www.nature.com/articles/s41588-018-0151-7">Nature Genetics</a>, was also able to show two distinct clusters for the neuroticism, one around “worry” and the other for what is called “depressed affect,” which describes a state of reduced emotional expression often associated with schizophrenia. In a parallel meta-analysis that also included data from 23andMe and was published in <a href="https://www.nature.com/articles/s41588-018-0152-6">Nature Genetics</a>,  Posthuma and her team found found 205 loci associated with intelligence offering a deeper look at the neurobiology of cognitive function. That study also found associations between those genetic regions and &#8220;intelligence-linked&#8221; genes, and associations with educational attainment, Alzheimer&#8217;s disease and ADHD. The researcher &#8220;suggest protective effects of intelligence (against) Alzheimer’s disease and ADHD,&#8221; but it is linked to an increased risk for autims.
This research is the latest in a<a href="about:blank"> series of studies</a> that have illuminated the underlying genetic basis for cognitive function, personality traits and psychiatric disorders. The research around personality have included work on the genetics around the so-called called<a href="https://en.wikipedia.org/wiki/Big_Five_personality_traits"> “Big Five</a>” personality traits — neuroticism, extraversion, openness, agreeableness, and conscientiousness.
On that spectrum of traits, a high level of neuroticism is associated with various mental and physical health issues including depression, anxiety, and substance abuse. High levels of neuroticism are also associated with schizophrenia.
By revealing genes associated with neuroticism, this study adds to our understanding of the underlying neurobiology of the condition. The study points to genes and gene regions involved in neurogenesis, or the process of neuron production in the brain, as well as other processes involving neural stem cells and nerve cells in the brain.
“These results are a major step forward in understanding the neurobiology of neuroticism and provide clear clues for functional follow-up experiments,” the study authors said.
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23andMe Blog

23andMe Blog Team

New Study Finds Genetic Associations for Neuroticism

In the most extensive genetic study of brain disorders to date, scientists have found a shared genetic basis for psychiatric disorders like schizophrenia and bipolar disorder. But the researchers also found that neurological brain disorders like Parkinson’s and Alzheimer’s disease are more distinct from one another.
The findings may change how scientists look at disorders of the brain, according to the lead author of the study<a href="https://www.broadinstitute.org/bios/benjamin-neale"> Ben Neale</a>, of the Broad Institute at MIT and Harvard. <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg" alt="" class="alignright size-medium wp-image-22635" width="287" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg 287w, https://blogcms.23andme.com/wp-content/uploads/2015/06/Brain-Logo.jpg 438w" sizes="auto, (max-width: 287px) 100vw, 287px" />
“If we can uncover the genetic influences and patterns of overlap between different disorders, then we might be able to better understand the causes of these conditions — and potentially identify specific mechanisms appropriate for tailored treatments,” Neale said.
<h6>The Genetics of Psychiatric Disorders </h6>
Published in the journal <a href="http://science.sciencemag.org/content/360/6395/eaap8757">Science</a>, the findings could also change how psychiatric disorders are categorized, which in turn could inform the development of treatments for patients. 
The researchers used a hypothetical example to explain this. It&#8217;s possible that a single genetic mechanism  affects concentration. This, in turn, could play a role in both the lack of attention that is part of attention-deficit/hyperactivity disorder (ADHD), or the diminished executive function that is a cornerstone of schizophrenia. And the deeply connected nature of psychiatric disorders underscores the need to refine their diagnosis, according to the researchers involved in this study.
<h6>Psychiatric and Neurological Disorders </h6>
This massive study was led by the Broad Institute and funded in part by the<a href="https://www.nih.gov/grants-funding"> National Institutes of Health</a>, the<a href="http://www.european-funding-guide.eu/content/about-us"> Orion Farmos Research Foundation</a> and the<a href="http://hertzfoundation.org/"> Fannie and John Hertz Foundation.</a> The work included contributions from researchers at more than 600 institutions worldwide — as well as data from dozens of cohorts including from 23andMe customers who consented to participate in research. The researchers pooled this data to examine more than two-dozen different psychiatric and neurological disorders. In all data from more than a million individuals was used for this study.
“This was an unprecedented effort in sharing data, from hundreds of researchers all around the world, to improve our understanding of the brain,” said coauthor <a href="https://www.researchgate.net/profile/Verneri_Anttila">Verneri Anttila</a>, a postdoctoral research fellow in Neale’s lab.
<h6>Large Amount of Data Needed for These Studies</h6>
The sheer size of this study allowed researchers to discern the sometimes small influence of individual genetic variations on specific conditions. That is because often many dozen or hundreds or even thousands of variants can contribute to risk for specific conditions. The study revealed extensive genetic overlap across different psychiatric disorders in particular between ADHD, bipolar disorder, major depressive disorder, and schizophrenia. The data also indicated strong overlap between anorexia nervosa and obsessive-compulsive disorder (OCD). Some of the findings confirm previous research.
Beyond just investigating the genetic associations that overlapped between conditions, the researchers also looked at the relationship between these conditions and 17 physical and cognitive measures. Among those are such things as the number of years of schooling, personality, smoking habits and BMI. The researchers found significant correlations between more years in school and ADHD, bipolar disorder and depression. But there those same cognitive and personality factors were negatively associated with neurological disorders like Alzheimer’s and Parkinson’s disease, according to the study.
Researchers said that they were surprised to find such a strong correlation between educational attainment and many psychiatric conditions. But the findings point toward potential future studies.
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Massive new study finds shared genetic basis for psychiatric disorders

Most of us know that the color of our hair, or whether we have a <a href="https://www.23andme.com/topics/traits/cleft-chin/">chin dimple</a>, or the likelihood of going bald when we get older has something to do with genetics, but other traits — being a morning person, having an aversion to cilantro or getting irritated at hearing someone chew their food — also have a genetic component.
23andMe recently added four new reports to its growing list of more than two-dozen Trait reports.&nbsp; Together, these reports help illustrate how our genetics may influence more than just physical traits like the <a href="https://www.23andme.com/topics/traits/hair-thickness">thickness of our hair</a>, but also food preferences or certain behavioral traits.
The reports also help us understand something else that many of us know already but for which we may still need a reminder — our genetics don’t explain everything.
Our traits are influenced by a complex interaction between genetics, environment, and lifestyle. And the genetic influences can also be complicated with dozens and even hundreds, or sometimes thousands of genetic variants playing a role.
23andMe’s Trait Reports offer a fun way to explore this complexity by looking at how your DNA may influence <a href="https://www.23andme.com/dna-ancestry/">physical features</a> or certain personal characteristics. Spend a little time with each report and you quickly get a sense of how your genetics is just part of the bigger picture.
Keep in mind that these results from 23andMe research are preliminary and are meant for informational purposes only. Our scientists used data from 23andMe customers who consented to participate in research in creating these reports. So let’s look at the four new Trait Reports we’ve added:
<h6>Cilantro Taste Aversion</h6>
 Many people describe<a href="https://blog.23andme.com/23andme-research/cilantro-love-hate-genetic-trait/"> cilantro as tasting like soap</a> so slipping <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/06/Cilantro-Aversion.jpg" alt="" class="alignright size-full wp-image-26278" width="257" height="192">a bit of the&nbsp; herb into a dish is seen as a culinary crime. 23andMe researchers have identified two genetic variants associated with aversion to cilantro in people of European ancestry. These two variants are near genes that control the olfactory receptors that determine a person’s sense of smell. Some of these receptors detect something called aldehydes, a compound found in soap, and a major component of the cilantro aroma.While having these variants might make it more likely that you dislike cilantro, it doesn’t guarantee it. The culture in which you grow up makes a difference too.<a href="https://flavourjournal.biomedcentral.com/articles/10.1186/2044-7248-1-8"> A study</a> from 2012 found distinct differences in aversion to cilantro among different populations. In cultures where the use of the herb was more common, among people with South Asian, Hispanic or Middle Eastern ancestry, fewer people dislike cilantro.
<h6>Misophonia</h6>
The report looks at the feelings of rage triggered by certain sounds<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/06/Misophonia-300x290.jpg" alt="" class="alignright wp-image-26277 size-medium" width="300" height="290" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/06/Misophonia-300x290.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2018/06/Misophonia.jpg 310w" sizes="auto, (max-width: 300px) 100vw, 300px" />.<a href="https://www.23andme.com/topics/traits/misophonia/"> Misophonia</a>, from the Greek word meaning hatred of sound, is characterized by an emotional reaction from rage to panic upon hearing other people chewing, sipping or chomping on their food. Some scientists believe that this could be an increased connection within the brain involved with hearing and the “fight or flight” response. 23andMe’s new report looks at a genetic variant near the TENM2 gene — involved in brain development — that is associated with having higher odds of <a href="https://www.23andme.com/topics/traits/misophonia/">misophonia</a>. 

<h6>Wake-up Time </h6>
Being a morning person or a night owl is partially<a href="https://blog.23andme.com/23andme-research/rise-and-shine/"> associated with your genetics</a>. 23andMe researchers looked at data from more than 70,000 customers who consented to <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/06/Large-Trait-Feature-Image-e1529623778394-300x176.png" alt="" class="alignright size-medium wp-image-26294" width="300" height="176" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/06/Large-Trait-Feature-Image-e1529623778394-300x176.png 300w, https://blogcms.23andme.com/wp-content/uploads/2018/06/Large-Trait-Feature-Image-e1529623778394.png 625w" sizes="auto, (max-width: 300px) 100vw, 300px" />participate in research and found 450 different genetic variants associated with being a morning person or a night owl. This new report uses genetic information and non-genetic information as part of a statistical model to predict what time you’d typically wake up on your days off when you don’t have to wake up for work. The report also allows you to adjust your genetics or your age to see how that might impact the prediction. Typically the older you are the earlier you wake up.
<h6>Hair Thickness </h6>
Genetics doesn’t just play a role in the color of your locks or whether or not you might go bald, it also influences the <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/06/Hair-Thickness-300x290.jpg" alt="" class="alignright size-medium wp-image-26280" width="300" height="290" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/06/Hair-Thickness-300x290.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2018/06/Hair-Thickness.jpg 310w" sizes="auto, (max-width: 300px) 100vw, 300px" />thickness of the hair you have. The size and shape of your hair follicles influence the thickness of each individual strand of hair you have. Typically people with East Asian ancestry have thicker hair than individuals with African or European ancestry. 23andMe’s new report looks at one genetic variant in the gene EDAR that is important in follicle development and plays a large role in the thickness of your hair. 23andMe actually offers six other reports that look at different hair traits, such early hair loss, the likelihood of developing a bald spot, <a href="https://www.23andme.com/topics/traits/hair-texture/">hair texture</a>, light or dark hair, red hair and <a href="https://www.23andme.com/topics/traits/widows-peak/">having a widow’s peak</a>.
23andMe’s new Trait Reports are just the latest in a series of new offerings for customers interested in exploring their genetics in a fun and inviting way.
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23andMe Adds Four New Trait Reports

One of the best gifts for Father’s Day is getting to spend some time with your son or daughter, especially if you haven’t been able to do that before.
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This year, 23andMe brought together five fathers for a barbecue in Houston with children they connected with through 23andMe. For most,  this was their first Father’s Day with a grown son or daughter they hadn’t known they even had, until discovering their genetic connection through 23andMe.
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“It’s a miracle,” said Alex, who spent the time with his newfound daughter Esther. 
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Alex hadn’t known of her birth more than 28 years ago. It wasn’t until a cousin reached out — with whom Esther had connected with using 23andMe — that he learned he had another daughter.
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“I’d always wanted another daughter,” he said.

For Esther, who’d been searching for years for her biological father, meeting him for the first time was life-changing.
<div id="attachment_26261" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26261" src="https://blog-api.23andme.com/wp-content/uploads/2018/06/IMG_3426-300x200.jpg" alt="" class="size-medium wp-image-26261" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_3426-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_3426-1024x683.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_3426-880x587.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_3426-1180x787.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_3426-768x512.jpg 768w" sizes="auto, (max-width: 300px) 100vw, 300px" /> Esther and Francisco Blue de Avalos and her father, Alex Rabar on the right.</div>
She’d been nervous about meeting him for the first time, but almost immediately felt a sort of unconditional love for him. The connection with him was incredibly important for her, but it also meant her three young daughters now had another grandfather in their lives.
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“And that&#8217;s all because of 23andMe,” she said.
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Ben didn’t know of his son Adam Runyan’s birth 35 years ago. Ben was stunned when his son Levi, a 31-year-old corrections officer, called him to say he had another son to add to his family of two sons and two daughters. Ben said when he showed his 94-year-old mother Adam’s picture she said:
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“That boy looks like you!”
<div id="attachment_26262" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26262" src="https://blog-api.23andme.com/wp-content/uploads/2018/06/IMG_3432-300x200.jpg" alt="" class="size-medium wp-image-26262" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_3432-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_3432-1024x683.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_3432-880x587.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_3432-1180x787.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_3432-768x512.jpg 768w" sizes="auto, (max-width: 300px) 100vw, 300px" />Adam and Kristen Runyan (on the right) with Adam&#8217;s father Ben Gurule and his wife Suzanne.</div>
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What amazed Ben is that he immediately felt his heart open to his newfound son Adam, a counselor.
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“I do have amazing children, and he fits right in,”  Ben said. “To me, this is a blessing. Something I didn’t think was possible.”
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Adam felt an immediate connection to his father and siblings.
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For Ricky, who connected with his grown daughter Lisa McIndoo, it was hard to describe his feelings.
 “Here she is, and she’s just beautiful and funny and bright,” he said. “I’m weak-kneed with emotion.”
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Lisa, an adoptee who grew up in a loving family and became an Episcopal priest, felt finding her biological father was incredibly valuable. She loved her dad, the man who raised her, but like many adoptees, she always wondered.
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<div id="attachment_26265" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26265" src="https://blog-api.23andme.com/wp-content/uploads/2018/06/IMG_2634-300x240.jpg" alt="" class="wp-image-26265 size-medium" width="300" height="240" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_2634-300x240.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_2634-768x614.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_2634-1024x819.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_2634-880x704.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_2634-1180x944.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />Lisa McIndoo, with her birth father Ricky Beach.</div>
“There’s really no way to describe how completing it can be to find a biological parent,” said Lisa, who had for years felt like there was a missing puzzle piece in her life that she’s now found “To spend Father’s Day together and to be here with him is almost unreal.”
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For Larry, this was a different kind of Father’s Day, one that’s not easy to explain. He’d spent Father’s Day with his daughter Sherry, but this was the first one he’d spent with her knowing that she was his biological daughter. You see she’d been born just after he and her mom began dating. They’d assumed
that he was not her father, but he raised her as if she were. It never mattered to Larry or Sherry. Larry was her dad, whether he was her biological father or not. Almost 15 years ago, he’d even told her if she wanted him to take a DNA test to find out, he’d do it, but she told him no.
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Then recently Sherry’s 37-year-old daughter tested. In looking at the surnames of DNA Relatives she
<div id="attachment_26259" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26259" src="https://blog-api.23andme.com/wp-content/uploads/2018/06/IMG_3405-300x200.jpg" alt="" class="size-medium wp-image-26259" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_3405-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_3405-1024x683.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_3405-880x587.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_3405-1180x787.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_3405-768x512.jpg 768w" sizes="auto, (max-width: 300px) 100vw, 300px" />On the left is Sherry Brown&#8217;s mother, Elberta Roberts and her father Larry with Sherry and her husband Daniel Kennedy.</div>
matched with on 23andMe, Larry knew almost right away that Sherry was his biological daughter. He and Sherry sent off a kit and soon confirmed it.
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It was surprisingly emotional for them both.
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“It was as if all the sudden I had a new daughter,” Larry said.
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Sherry said they both realized that the result didn’t change the dynamics of their relationship, but “the truth is a powerful thing,” she said.
<div id="attachment_26260" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26260" src="https://blog-api.23andme.com/wp-content/uploads/2018/06/IMG_3413-300x200.jpg" alt="" class="size-medium wp-image-26260" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_3413-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_3413-1024x683.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_3413-880x587.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_3413-1180x787.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2018/06/IMG_3413-768x512.jpg 768w" sizes="auto, (max-width: 300px) 100vw, 300px" />From right to left Rebecca Bond, her father Thomas Metzger, her son Kameron and Vicki and Thomas Metzger (Rebecca&#8217;s father).</div>
For Rebecca Bond, finding her biological father and getting to spend her first Father’s Day with him was immeasurable.
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“Not having a father impacts you deeply,” she said.
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Raised by a single mom, she was told her father had died. She had yearned for a dad, someone who would have been there to see her off for the prom, or walk her down the aisle during her wedding, or to be a grandfather to her son.
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When she made a surprising connection with a half-sister and then found him, she was stunned.
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“There are no words to express the feelings I have,” she said.
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Thomas summed it up for everyone when he said:
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“This is one of the most wonderful things that has ever happened to me.”
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Being a father is about more than just biology, but making those connections and understanding your history can be important in many ways.
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To all the dads out there, Happy Father’s Day from 23andMe.
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Check out the stories from 23andMe’s Father’s Day BBQ <a href="https://www.youtube.com/watch?v=rJF93KXZfYk&#038;list=PLFvkfbvHpp1kU9nvguZrZ2Y7nYc8_swVA">here</a>.
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Happy Father’s Day 2018

By Janie F. Shelton, Scientist, Data Collection at 23andMe
 
Being hungry doesn’t put anyone in a good mood, but have you ever felt hangry? &#8220;Hangry,&#8221; a mashup of hungry and angry, entered the popular lexicon in the 1990’s and was formally added to the Oxford English Dictionary in 2018.  
While this term describing the foul mood many of us experience when we&#8217;re hungry is relatively new, the connection between hunger and mood has been around for a while. <img loading="lazy" decoding="async" class="alignright size-medium wp-image-26235" src="https://blog-api.23andme.com/wp-content/uploads/2018/05/Hanger-300x200.jpg" alt="" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/05/Hanger-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2018/05/Hanger-768x512.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2018/05/Hanger-1024x683.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2018/05/Hanger-880x587.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2018/05/Hanger-1180x787.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2018/05/Hanger.jpg 1254w" sizes="auto, (max-width: 300px) 100vw, 300px" />
<h2>Hunger Pangs and Anger</h2>
Several studies have found that low blood sugar is associated with personality changes, including higher aggression between spouses.<a id="a1" href="#f1">[1]</a> In another study comparing judicial decisions by time of day, judges handed down harsher sentencing decisions before mealtime breaks compared with after.<a id="a2" href="#f2">[2]</a>
Feel an argument coming on? Try a snack first.
Up for trial? Bring the judge a sandwich.
<h2>Do You Feel Hangry?</h2>
We asked 23andMe research participants to take a survey on eating behaviors, including the question, “How often do you feel angry or irritable when you are hungry?” (Fig. 1). Out of over 100,000 people who answered the question, 75 percent said they felt “hangry” at least some of the time.
<div id="attachment_26229" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26229" class="size-medium wp-image-26229" src="https://blog-api.23andme.com/wp-content/uploads/2018/05/imageLikeEmbed-1-300x185.png" alt="" width="300" height="185" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/05/imageLikeEmbed-1-300x185.png 300w, https://blogcms.23andme.com/wp-content/uploads/2018/05/imageLikeEmbed-1.png 526w" sizes="auto, (max-width: 300px) 100vw, 300px" />Figure 1. Response frequency to the survey question “How often do you feel angry or irritable when you are hungry?” Possible responses were “always”, “most of the time”, “half of the time”, “some of the time”, and “never”. n=107,577.</div>
Responses varied significantly across sex and age. Women were much more likely than men to report feeling angry or irritable when hungry (Fig. 2). People under 50 were also more likely to report anger and irritability when hungry than those over 50 (Fig. 3).
<h2>The Genetics of Being Hangry, Like the Wolf</h2>
To investigate the underlying biology of feeling angry and irritable when hungry, we ran a genome-wide association study among unrelated Europeans, controlling for age, sex, genetic ancestry, and the version of genotyping platform.
Two regions reached genome-wide significance, which are indicated in red in Figure 4. This graph is called a Manhattan plot, and it shows how strong the associations are between answers to the hangry
<div id="attachment_26230" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26230" class="size-medium wp-image-26230" src="https://blog-api.23andme.com/wp-content/uploads/2018/05/imageLikeEmbed-2-300x186.png" alt="" width="300" height="186" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/05/imageLikeEmbed-2-300x186.png 300w, https://blogcms.23andme.com/wp-content/uploads/2018/05/imageLikeEmbed-2.png 600w" sizes="auto, (max-width: 300px) 100vw, 300px" />Figure 2. Percent of male and female respondents by category. Women were much more likely than men to report feeling angry or irritable when hungry.</div>
question and different genetic variants (represented by dots). Red dots show genetic variants that are &#8220;statistically significantly&#8221; associated with getting hangry — which means they&#8217;re most likely to be real associations (as opposed to random noise).
One region was located in the vaccinia-related-kinase 2 gene (VRK2), and the other in the exoribonuclease 1 gene (ERI1). Both of these loci have previously been associated with a range of personality and neuropsychiatric conditions. Specifically, the VRK2 gene has been associated with schizophrenia,<a id="a3" href="#f3">[3]</a> depression.<a id="a4" href="#f4">[4]</a> epilepsy, and multiple sclerosis.<a id="a5" href="#f5">[5]</a>
In two publications using 23andMe data, ERI1 has been associated with subjective well-being, irritability, and neuroticism.<a id="a6" href="#f6">[6]</a>,<a id="a7" href="#f7">[7]</a>  ERI1 is a protein-coding gene associated with a known inversion
<div id="attachment_26231" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26231" class="size-medium wp-image-26231" src="https://blog-api.23andme.com/wp-content/uploads/2018/05/imageLikeEmbed-3-300x186.png" alt="" width="300" height="186" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/05/imageLikeEmbed-3-300x186.png 300w, https://blogcms.23andme.com/wp-content/uploads/2018/05/imageLikeEmbed-3.png 600w" sizes="auto, (max-width: 300px) 100vw, 300px" />Figure 3. Percent of under and over 50 respondents by category. People under 50 were more likely to report feeling angry or irritable when hungry.</div>
polymorphism on chromosome 8. An inversion polymorphism is a kind of genetic variant where a segment of the chromosome has broken off, flipped 180 degrees, and reintegrated in the same place. Inversion polymorphisms have a unique role in the genome because they are less likely to be altered through recombination across generations. This inversion is common, with an estimated frequency of 80 percent among Africans, 50 percent among Europeans, and 20 percent among Asians.<a id="a8" href="#f8">[8]</a>
<h2>Personality and Mental Health</h2>
Taken together, these results suggest that feeling angry and irritable when hungry may have origins in the genes that govern our personalities and mental health. While we initially expected feeling hangry to be more directly related to blood sugar regulation, these results are not a complete surprise because many of the genes involved in obesity implicate pathways that act in the brain.<a id="a9" href="#f9">[9]</a>
<div id="attachment_26232" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26232" class="size-medium wp-image-26232" src="https://blog-api.23andme.com/wp-content/uploads/2018/05/hangry_gwas_w_labels-4-300x138.png" alt="" width="300" height="138" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/05/hangry_gwas_w_labels-4-300x138.png 300w, https://blogcms.23andme.com/wp-content/uploads/2018/05/hangry_gwas_w_labels-4-768x354.png 768w, https://blogcms.23andme.com/wp-content/uploads/2018/05/hangry_gwas_w_labels-4-1024x472.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2018/05/hangry_gwas_w_labels-4-880x406.png 880w, https://blogcms.23andme.com/wp-content/uploads/2018/05/hangry_gwas_w_labels-4-1180x544.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2018/05/hangry_gwas_w_labels-4.png 1600w" sizes="auto, (max-width: 300px) 100vw, 300px" />Figure 4. Genome-wide association study manhattan plot for “How often do you feel angry or irritable when you are hungry?” Possible responses were “always”, “most of the time”, “half of the time”, “some of the time”, and “never”. n=107,577. This model treated the responses as linear, and adjusted for age, sex, genotyping platform, and the top-5 principal components of genetic ancestry.</div>
 While feeling hangry might make you feel on edge, could it give you an edge? Before heading out to the halfpipe, the 2018 women’s snowboarding gold medalist <a href="https://twitter.com/chloekimsnow/status/963234868615196673?lang=en">tweeted</a>, “Wish I finished my breakfast sandwich but my stubborn self decided not to and now I’m getting hangry”. She then proceeded to dazzle the world with her inverted 540 and double 1080’s, proving to the world that feeling hangry can’t stop you from becoming a world champion.
<h2> </h2>
<h2 class="footnotes">Footnotes:</h2>
<footer class="footnotes"><a id="f1" href="#a1">[1]</a> Bushman BJ et al. (2014). Low glucose relates to greater aggression in married couples. PNAS. 111 (17) 6254-6257</footer>
<a id="f2" href="#a2">[2]</a> Danziger S et al. (2011). Extraneous factors in judicial decisions. PNAS. 108 (17) 6889-6892
<footer class="footnotes"><footer class="footnotes"></footer>
<a id="f3" href="#a3">[3]</a> Steinbert S et al. (2011). Common variants at VRK2 and TCF4 conferring risk of schizophrenia. Hum Mol Genet. 2011 Oct 15;20(20):4076-81
<footer class="footnotes"></footer>
<a id="f4" href="#a4">[4]</a> Hyde CL et al. (2016). Identification of 15 genetic loci associated with risk of major depression in individuals of European descent. Nature Gen 48(9):1031-1036
<footer class="footnotes"></footer>
<a id="f5" href="#a5">[5]</a> Azimi T. et al. Vaccinia Related Kinase 2 (VRK2) expression in neurological disorders: schizophrenia, epilepsy and multiple sclerosis. Mult Scler Relat Disord. 2018 Jan;19:15-196
<footer class="footnotes"></footer>
<a id="f6" href="#a6">[6]</a> Okbay A. et al. (2016). Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. Nature Genetics volume 48, pages 624–633
</footer><footer class="footnotes"><a id="f7" href="#a7">[7]</a> Lo MT et al. (2017) Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders. Nat Genet. 2017 Jan;49(1):152-156.</footer><footer class="footnotes"><a id="f8" href="#a8">[8]</a> Salm MPA, et al. The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism. Genome Res. 2012;22(6):1144–1153.</footer><footer class="footnotes"><a id="f9" href="#a9">[9]</a> Locke AM et al. Genetic studies of body mass index yield new insights for obesity biology. Nature. 2015 Feb 12; 518(7538): 197–206.</footer><footer class="footnotes"></footer><footer class="footnotes"></footer>



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

Hangry Like The Wolf

On her birthday in April Betty Jeannotte joined a pretty exclusive club when she turned 100.
She didn’t want to make a big fuss, but the managers at the senior living community where Betty lives in Florida sure wished to mark the occasion offering her a “wish of a lifetime.” Betty, who is from Maine, didn’t ask for much.
<div id="attachment_26232" style="width: 232px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26232" src="https://blog-api.23andme.com/wp-content/uploads/2018/05/Betty-Portrait-222x300.jpg" alt="" class="wp-image-26232 size-medium" width="222" height="300" />Betty Jeannotte</div>
“They asked if I wanted to take a trip back to Maine or if I wanted something else,” she said.
But Betty was more interested in learning about her ancestry, so she got a 23andMe kit and a chance to work with a genealogist to find out a little bit more about her ancestry.
“Years and years ago I’d done a little research, but I never got very far,” she said. “And I was curious.”
Her gift and gifts for others who reach this milestone is something that the<a href="https://www.brookdale.com/en.html"> Brookdale Senior Living</a> communities have been doing for years after teaming up with the non-profit<a href="http://www.wishofalifetime.org"> Wish of a Lifetime</a> in 2010. They offer seniors a chance to fulfill dreams deferred and since then they’ve offered gifts that include piloting planes, skydiving and getting behind the wheel of a racecar.
Betty wasn’t so interested in jumping out of a plane or speeding down a racetrack, but she did want to find out a little about her ancestry and used 23andMe and the help of a local genealogist to learn more about the family history. He found 7 generations of her maternal family.
“It was fascinating,” she said.
The information added another layer to what she already knew. Her 23andMe <a href="https://www.23andme.com/dna-ancestry/">Ancestry Composition</a> showed she’s about 80 percent English and Irish with a little bit of German in the mix. That reflects accurately with what she knows about her parents’ family histories.
Her mom was “of Yankee stock,” while her dad, who had been a vaudeville magician, was a Bostonian whose family originally came from Ireland. He swept Betty’s mom off her feet.
“You could say that,” Betty said.
It was part of his magic trick.
Betty’s mother lived in Old Orchard Beach, which at the time was a gathering place of Bostonians and New Yorkers during the summer. Her dad, and his vaudeville partner were among the vacationers, and that’s how Betty’s mom met her dad.
<div id="attachment_26233" style="width: 235px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26233" src="https://blog-api.23andme.com/wp-content/uploads/2018/05/Betty-Photos-e1527807973527-225x300.jpeg" alt="" class="wp-image-26233 size-medium" width="225" height="300" />Scenes from a life well lived.</div>
“Adams &amp; Mack” gave “benefit” performances for the town – Betty’s mom, who’d played the organ at church, agreed to be the musical accompaniment for the show. When they needed a volunteer for the levitating portion of their magic show, she volunteered.
“It’s a funny story,” Betty said. “My mother’s dad insisted on seeing how they did the trick before he’d allow her to do the show.”
Betty still has a snapshot of her mom floating above the stage as her dad passes a ring over her body — sweeping her off her feet.
Her dad settled in town, and her parents married. He eventually came to own and operate stores that sold newspapers and magazines and included a soda shop. He became politically active and was appointed postmaster in the ‘30s. Betty grew up a bit of a tomboy in that part of rural Maine but eventually went to college in New Jersey.
“I went to St. Elizabeth’s in Morristown and graduated in June of 1941, and you know what happened in December of that year,” Betty said.
She worked in the civil service throughout the war and corresponded with “a fella I met in college.”
That “fella” was Russell Jeannotte, who eventually would become Betty’s husband. Most of his time during the war was in North Africa where he was stationed with the U.S. Army Air Corps. After the war, the couple settled in Freeport, Maine, close to the original LL Bean, where Russell operated a funeral home. Betty was an elementary and middle school teacher for 28 years.
The couple had two children, a son, who went into the Army, and a daughter, who became a chiropractor. After they retired Betty and her husband moved in the early 1980s near Sarasota, Florida where some friends had settled.
“They kept saying we should move out of the cold,” she said. “I was never sorry about the move. Maine still feels like home, but I’m happy in Florida.”
In 2001 her husband died and then three years ago, Betty lost her daughter to cancer, and then something happened. Her daughter’s friends rallied around and were &#8211; and remain &#8211; so supportive, they on the Gulf Coast and Betty in Fort Lauderdale. It was their two closest family friends, one of whom is the son of Betty’s college roommate, who influenced her to move across state to Brookdale. It is those long time friends and the new Brookdale friends she has made which make each day a good one.
“I’m sometimes asked about my secret to aging,” Betty said. “I’ve never been particularly athletic. I eat well, but I don’t concentrate on it.”
And she doesn’t think it’s her genetics either. Her mother died young, at only 53. Her dad made it to 70, and even going back further, and no one made it much beyond 70.
“I guess if anyone asks me why don’t you sound like a little old lady, I guess my secret or the only reason I can account for that is I had my daughter’s friends,” Betty said. “You know when you’re surrounded by younger people it keeps you young.”

Betty’s Wish

Editor&#8217;s note: This post first appeared in the quarterly magazine the DNA Decoder, a publication written by students, for students. The magazine is designed to help students across the nation connect with each other and share interesting ideas around genetics. 
By Mahir Jethanandani
&nbsp;
The human genome contains nearly three billion base pairs of genetic material, which if written out, would fill over 200 New York City telephone books (averaging 1000 pages each) <a id="a1" href="#f1">[1]</a>. 
 
Working with such huge datasets, as in the case of the human genome, requires scientists to use the most cutting-edge technology, to both sequence and analyze what makes these data so interesting. 
 
The human genome is not only extremely large in size, but it is also remarkably complex: there are roughly ~20,000 genes and even more regions that control how these genes are expressed. 
 
Small variations in these genes and regulatory regions are ultimately what makes each of us unique (and, unfortunately, sometimes results in disease). 
 
The effects of these small variations, especially when they occur in combination with one another, are often difficult to identify. 
 
While the Human Genome Project provided a wealth of information surrounding the genetic material that makes up humans, even over a decade later, scientists are still working to identify the connections between genotypic and phenotypic traits. 
 <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/03/ilya-pavlov-87438-1024x684.jpg" alt="" class="alignright size-large wp-image-26067" width="1024" height="684" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/03/ilya-pavlov-87438-1024x684.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2018/03/ilya-pavlov-87438-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2018/03/ilya-pavlov-87438-768x513.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2018/03/ilya-pavlov-87438-880x587.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2018/03/ilya-pavlov-87438-1180x788.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2018/03/ilya-pavlov-87438.jpg 1600w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />
<h5>WHAT IS MACHINE LEARNING?</h5>
Machine learning is a modern day tool that has been increasingly popular to identify patterns and connections in large datasets. Broadly speaking, machine learning is a type of artificial intelligence where computers are programmed to improve their performance on a general task, or to “learn” on their own—given a starting dataset, which they can use to recognize important patterns. 
 
One popular example of machine learning is IBM laboratory’s computer Watson, that was able to outperform even the best human contestants on Jeopardy.<a id="a2" href="#f2">[2]</a> Machine learning has many applications to the modern-day world, and one very exciting application is to find patterns in personal genomic data. 
 
<h5>HOW CAN MACHINE LEARNING BE APPLIED TO EXPLORING THE HUMAN GENOME?</h5>
In the context of personal genomics (the study of an individual’s unique human set of DNA), machine learning can be used to help find patterns in how small variations in genes and regulatory regions result in phenotypic changes (traits, wellness, and health) in a more automated fashion. 
 
For example, knowing which genetic variants are commonly shared in individuals with traits of interest, like diabetes or hemophilia, allows computer scientists to leverage machine learning to more efficiently pinpoint where in the genome (and potentially why) these disorders may occur. 
 
Entire companies and research departments across the globe dive into machine learning in the hopes of finding common patterns between people’s DNA and traits or disease. 
 
Machine learning can help us identify underlying genetic factors for certain diseases by looking for genetic patterns amongst people with similar medical issues.
 
Many new insights of the human genome can be attributed to machine learning. For example, unsupervised learning, a type of machine learning algorithm, can cluster genes by their expression in cells and tissues and find the connection between genotypic and phenotypic patterns. 
 
It can be also applied to improve sequencing methodologies. One such project is called DeepVariant.
<h5> DEEP VARIANT AS A RISING STAR</h5>
As our understanding of genetics grows, new tasks emerge to be solved. 
 
Next-generation sequencing aims to reduce the time and resources required to read and digitize a person’s genomic sequence. 
 
The repetitive task of genome sequencing can be optimized through the application of machine learning, especially when used for next-generation sequencing. The current genomic sequencing task is very error-prone, in that it can misread parts of DNA and make other crucial mistakes—complicating our ability to connect genotype to phenotype. 
 
The Food and Drug Administration hosted the PrecisionFDA Truth Challenge in April 2016, which aimed to curb the error-impact of human genomic sequencing.<a id="a3" href="#f3">[3]</a>
 
Google Research presented DeepVariant, their solution to next-generation sequencing.
 
DeepVariant went on to win the top awards for the advancement of next-generation sequencing. 
 
DeepVariant improved the Genome Analysis Tool Kit (GATK), a popular genomic tool, by improving machine learning methodologies used in sequencing.<a id="a4" href="#f4">[4]</a> 
 
Without getting bogged down in the technical details, deep learning frameworks like TensorFlow and PyTorch allow for companies like Verily Life Sciences (the creators of DeepVariant) to improve the speed and accuracy of sequencing.
 
DeepVariant uses a subdivision of machine learning, called deep learning, to optimize a computer’s ability to find patterns in data unsupervised. 
 
Such computation is difficult to understand, and the task of training the computer systems to learn “properly” is all the more difficult.
<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;">
<h5>DEFINITIONS</h5>
Machine learning &#8211; a type of artificial intelligence that can be used to find patterns in data.
Unsupervised learning &#8211; a discipline of machine learning that learns from data without explicit labelling.
Genotype &#8211; the unique heritable genetic material of an individual (the usage of this term can refer to a single base pair all the way up to the entire genome or the entire set of DNA in a human).
Phenotype &#8211; the observable, physical characteristic(s) of an individual (can be trait, wellness, or health)
Human Genome Project &#8211; an international genomics project aimed at determining the first complete sequence of human DNA.
</div>
<h5> LOOKING FORWARD</h5>
DeepVariant and advancements in popularizing personal genomics come together to expand the applications of machine learning. More so, companies are opening an “app store” for other scientists and genetics enthusiasts to explore their own genomes, in relationship to health and livelihood. 
 
As a scientific community, we are taking steps foward to connect genotype to phenotype—despite many challenges. Many patterns that help form genetic traits remain undiscovered, and machine learning specializes in pattern recognition that push the boundaries of human skill and knowledge. 
&nbsp;
<footer class="footnotes">References:</footer>
<footer class="footnotes">
<a id="f1" href="#a1">[1]</a><a href="http://www.pbs.org/wgbh/nova/genome/facts.html">Nova Online: Genome Facts</a>. Last updated 2001: </footer>
<footer class="footnotes">
</footer>
<a id="f2" href="#a2">[2]</a> <a href="https://www.ibm.com/midmarket/us/en/article_Smartercomm5_1209.html">IBM&#8217;s Watson computer takes the Jeopardy! Challenge</a>.
<footer class="footnotes">
</footer>
<a id="f3" href="#a3">[3]</a> Chin J. <a href="https://medium.com/towards-data-science/simple-convolution-neural-network-for-genomic-variant-calling-with-tensorflow-c085dbc2026f">Simple Convolutional Neural Network for Genomic Variant Calling with TensorFlow</a>. July 16, 2017; 1-3.
<footer class="footnotes">
</footer>
<a id="f4" href="#a4">[4]</a> Poplin R, Newburger D, Dijamco J, Nguyen N, Loy D, Gross S, McLean C.Y., DePristo M.A. <a href="https://www.biorxiv.org/content/biorxiv/early/2016/12/14/092890.full.pdf">Creating a universal SNP and small indel variant caller with deep neural networks</a>. bioRxiv. Dec. 14, 2016
<footer class="footnotes">
</footer>
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/03/Mahir-Jethanandani-225x300.jpg" alt="" class="alignright size-medium wp-image-26066" width="225" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/03/Mahir-Jethanandani-225x300.jpg 225w, https://blogcms.23andme.com/wp-content/uploads/2018/03/Mahir-Jethanandani.jpg 384w" sizes="auto, (max-width: 225px) 100vw, 225px" />
&nbsp;
Mahir Jethanandani is a junior studying Computer Science, Statistics, and Economics at the University of California, Berkeley. He previously worked at the University of California, San Francisco Department of Neurology and Bioinformatics as a Machine Learning and Bioinformatics Research Intern. Mahir also interned at 23andMe as an Engineering Intern, exploring the world of personal genomics and its application to computer science, machine learning, and bioinformatics. Mahir graduated from UC Berkeley where he triple majored in Computer Science, Statistics and Economics.  He is the author of “The Immaculate Investor” and “The Balance Sheet of Earth.” Mahir has worked with Benetech where he did volunteer work with Google for the United Nations. He is originally from Saratoga, California, and became inspired to explore genetics and bioinformatics after the passing of his grandfather.

Mahir Jethanandani

Machine Learning and Genetics

Editor&#8217;s note: This post first appeared in the quarterly magazine the DNA Decoder, a publication written by students, for students. The magazine is designed to help students across the nation connect with each other and share interesting ideas around genetics.  
By Ava Daniel
On a given week, Dr. Heather Mefford, M.D., Ph.D.  can be found juggling a busy schedule that is split between seeing patients, who include children who suffer from epilepsy caused by abnormalities in their genetic codes, and conducting research to find a cure for genetic disorders. 
<div id="attachment_26253" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26253" src="https://blog-api.23andme.com/wp-content/uploads/2018/06/Heather-Mefford-300x283.jpg" alt="" class="wp-image-26253 size-medium" width="300" height="283" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/06/Heather-Mefford-300x283.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2018/06/Heather-Mefford-768x724.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2018/06/Heather-Mefford-880x830.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2018/06/Heather-Mefford.jpg 1018w" sizes="auto, (max-width: 300px) 100vw, 300px" />Dr. Heather Mefford, M.D., Ph.D</div>
As a physician and principal investigator at the University of Washington-Seattle, Dr. Mefford hopes that her research will help to create better diagnostic tools and treatments for patients who have health conditions with an underlying genetic cause. In this interview, Dr. Mefford shares some of her thoughts and experiences about her work as a physician and researcher. 
&nbsp;
When did you first become interested in science? 
Growing up, I always enjoyed math and science. In high school, I was lucky to have really great science teachers. I was good at it and I really enjoyed it, so I tried to figure out how I could make it into a career.
&nbsp;
What is it about genetics that particularly interests you? 
My interest in genetics came a bit later. In college, I actually majored in chemical engineering. For me, that was a great way to apply high levels of math and science together. But I realized along the way that I didn&#8217;t want to pursue the particular type of work that chemical engineers generally do. I began to explore more biology courses. I took a genetics course, and from that point I started to really enjoy the human aspects of biology. Looking back, I probably would have pursued a biomedical engineering degree if that was available at the time. 
&nbsp;
I then decided to pursue a MD/PhD program, since I knew that I really liked both medicine and science research. I originally thought that I would study bioengineering for my PhD, but I ended up working in a genetics lab for a year, which—along with meeting great people along the way—really led me to fall in love with genetics.
&nbsp;
How do you balance your clinical work with your scientific research?
My clinical work accounts for about 20% of my time and my research accounts for the other 80%. I&#8217;m in the clinic seeing patients with genetic conditions about one day every other week, on average. The rest of the time I am in my lab.
&nbsp;
Your lab’s areas of interest are epilepsy, pediatric disorders, and novel genetic disorder discovery. How did you become interested in these areas of genetic exploration?
I started with pediatric training after medical and graduate school. I was really interested in what exactly goes wrong in a genetic condition or syndrome, such as the specific gene or pathway that has gone awry. 
&nbsp;
I really enjoyed learning about gene discovery and how it can teach us both about these conditions and also about normal development. After my residency, I returned to working in a lab and studied chromosome disorders and how chromosome structure can determine chromosomal disorders. 
&nbsp;
My initial research was based on finding small deletions and duplications in chromosomes that cause birth defects and other disorders. My interest in epilepsy grew as it was one of the disorders we were investigating in our research. 
&nbsp;
I was lucky enough to collaborate with a fantastic group who had been collecting patients with epilepsy for years and was interested in finding a genetic connection. They had the patients and the families, and I had the genetic tools and expertise. We&#8217;ve been working together ever since.
&nbsp;
For someone who doesn&#8217;t have an extensive background in science, which may be the case for some of our readers, how would you explain your research and the findings of your work?
We try to identify genetic changes—changes in DNA—that cause kids to have seizures, and often along with that, have poor development. We try to understand what goes wrong in their DNA to cause them to have such seizures, along with other disorders. 
&nbsp;
Additionally, that helps us understand, on the clinical side, how likely it is to happen again in that same family. Sometimes, identifying the specific gene that causes epilepsy can help us identify the right medication to prescribe a patient, or which medication to avoid (this is less often the case, but can be extremely helpful). 
&nbsp;
By doing this, we gain a better understanding of  the biology behind epilepsy with the goal of one day developing even better treatments for patients with these disorders. But for now, in the short term, we are able to have better diagnostics for our patients.
&nbsp;
Scientific research is defined by continuous trial and error. What lessons have you learned from experiments or research approaches that have not gone the way you expected?
You definitely learn perseverance. This persistence will encourage you to keep trying at something until it goes right. Sometimes an outcome can really surprise you, and you learn something new in addition to an outcome you may have been expecting—which could lead your work in a different, maybe even more exciting direction. 
&nbsp;
You also learn when to take a step back from your work and look at the bigger picture when things may not be going as planned.
&nbsp;
What impact do you hope your research may have in the context of medicine and our understanding of the genetic contributions to disease? 
I&#8217;m really excited about the contributions we have made and are currently making in the field of genetics. I hope to contribute to identifying the majority of genetic causes of pediatric epilepsy. I hope that this work will help families  understand what is going on with their children, which I hope can help them make the best possible decisions for their child&#8217;s care and for family planning, and so forth. We really hope to help in either preventing the disorder or identifying the best ways to treat it. 
&nbsp;
Overall, I am optimistic that our contributions can pave the way for future research, whether it is for our group or other groups. 
Does having a clinical background impact your scientific research, and vice versa?
I think it&#8217;s beneficial to have the connection of being able to see the kids and understand what life is like for their families; I think it is a reminder of why we do the research that we do, and it definitely keeps us going. Having the connection for me is incredibly nice, and it gives me a great variation in what I do on a day-to-day basis.
As a successful woman in the STEM field, do you have any advice for young women who wish to pursue a career in STEM? 
My first piece of advice is if you love to do something, go for it! Don&#8217;t be daunted by anything.
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My second piece of advice is to seek out successful women in the field of work you would like to pursue so that you surround yourself with mentors that are doing the things that you want to do, who can give you guidance and advice and show you that it is possible.
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Do you have any undergraduate researchers in your lab? If so, how are they involved in the research your lab conducts?
I have lots! We love to have undergraduates. They contribute to various projects in the lab depending on their skills and experience. We start undergraduates as volunteers so that they can get acquainted with the lab environment and decide if they like it here. 
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If they find their place, we try to find a small project for them. Sometimes their projects are contributing to a larger project that requires lots of hands. Other times, their projects are things that we would like to do but haven&#8217;t had the time to pursue yet; this allows them to have a more independent project. We give our undergraduates course credit for the research that they do, and we also include them on publications for the projects that they do.
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More information about Dr. Mefford&#8217;s lab and research can be found <a href="http://www.washington.edu/medicine/pediatrics/meflab/about">here</a>. 
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<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/03/Ava-2-225x300.jpg" alt="" class="alignright size-medium wp-image-26070" width="225" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/03/Ava-2-225x300.jpg 225w, https://blogcms.23andme.com/wp-content/uploads/2018/03/Ava-2-768x1024.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2018/03/Ava-2-660x880.jpg 660w, https://blogcms.23andme.com/wp-content/uploads/2018/03/Ava-2-885x1180.jpg 885w, https://blogcms.23andme.com/wp-content/uploads/2018/03/Ava-2.jpg 1200w" sizes="auto, (max-width: 225px) 100vw, 225px" />Ava Daniel is a sophomore at Yale University majoring in Molecular, Cellular and Developmental Biology. She is a Yale Freshman Research Fellowship recipient and a research assistant at the Yale School of Medicine. Aside from academics, Ava is a Community Health Educator, for which she teaches health education in New Haven public schools, as well as an active mentee of neurosurgery at Yale-New Haven Hospital. She is excited to be a Genetics Education Student Leader and create educational content to inspire students across the country in genetics and other areas of STEM. She is originally from Millbrae, California and hopes to attend medical school after Yale.

Ava Daniel

Genetic Researcher Feature: Dr. Heather C. Mefford

A massive <a href="https://www.nature.com/articles/s41588-018-0127-7">new study</a> by a consortium of researchers offers the most detailed view yet of the role genetics plays in nearsightedness.
This is most extensive study of on nearsightedness to date. It identified dozens of loci, and more than 8,000 genetic variants, associated with the condition. The study included data from more than 160,000 people of different ancestries. This allowed  researchers to find genetic variants associated with nearsightedness, also known as myopia, in both people of European and Asian ancestry.
&#8220;Our list of plausible genes and pathways provides a plethora of data for future studies focusing on gene-environment interaction and on translation of GWAS findings into starting points for therapy,&#8221; according to the study authors.
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/05/myopia-1024x576.jpg" alt="" class="size-large wp-image-26222" width="1024" height="576" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/05/myopia-1024x576.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2018/05/myopia-300x169.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2018/05/myopia-768x432.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2018/05/myopia-880x495.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2018/05/myopia-1180x663.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2018/05/myopia.jpg 1366w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />
<h6>The Genetics of Nearsightedness</h6>
For their work the researchers from several dozen institutions. It was led by scientists at Johns Hopkins and others from the International Consortium for Refractive Error and Myopia (known as CREAM). The group conducted what is called a meta-analysis, combining data from several different other studies.
This included data from more than 100,000 23andMe customers who consented to participate in research. CREAM provided data from about 50,000 people for the study.
The researchers were also able to use the findings to identify some biological pathways for developing myopia.
<h6>More Research Studies of Myopia</h6>
Even though genetics plays a role, lifestyle and environmental factors explain the substantial increase in the number of people with myopia.
It turns out we’re in the middle of a myopia epidemic particularly in urban areas of East Asia. For example, as many as 95 percent of 20 year-olds in cities like Hong Kong or Seoul are nearsighted. In the United States and Western Europe, the numbers are not quite so high, but much higher than they were a generation ago. Now as many as half of young adults are nearsighted. In the 1970s it was only about a quarter of young adults.
The reason for the big increase is mostly related to changes in lifestyle. For instance, more people spending time indoors. In recent years, people are spending hours each day in front of computer screen or staring at a smartphone. Diet also plays a role. Several studies have shown that a diet high in leafy greens can help reduce the risk, as can more time outdoors.
<h6>The Biology of Myopia</h6>
This study may help researchers learn more about how the interplay of genetics and lifestyle and environment lead to myopia. Nearsightedness  occurs when the eye grows too long from front to back. This, in turn, leads to what is called “refractive error,” which means that the shape of your eye doesn’t allow it to bend light correctly which results in a blurred image. This change in the shape of your eye makes it harder for the light-sensitive tissue in the back of the eye to focus on an image.
Instead, images are focused toward the front of the eye where the retina is, that is why people with myopia might see things close up just fine, but have a hard time focusing on objects in the distance.
This new genetic study can help in garnering more insight into how myopia develops as well as potential drug targets for treating the condition.

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