Scientists haven’t agreed on whether blondes indeed have more fun, but at least there is some consensus on what makes their hair blond.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-22160" src="https://blog-api.23andme.com/wp-content/uploads/2015/01/Blond-Hair-270x300.png" alt="Blond Hair" width="270" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/01/Blond-Hair-270x300.png 270w, https://blogcms.23andme.com/wp-content/uploads/2015/01/Blond-Hair.png 287w" sizes="auto, (max-width: 270px) 100vw, 270px" />


23andMe scientists looking at the biology behind hair color found three genetic variants already known to be strongly associated with having golden locks among 23andMe customers with Northern European ancestry.
The three variants are on or near the genes HERC2, KITLG and SLC24A4. 

<h6>Known Associations</h6>

These findings among 23andMe customers confirm<a href="https://www.nature.com/ng/journal/v39/n12/full/ng.2007.13.html"> known associations</a> reported on in several other published studies over the last few years.
Hair color is a complex trait, meaning more than one genetic variant influences whether a person has light or dark hair. And these three genetic variants by no means account for all the genetic factors that influence hair color. But at least for people with Northern European ancestry they explain a lot.


A pigment molecule called melanin determines the color of your hair. People with higher levels of the brown-black form of melanin have darker hair. But people with the lower levels have lighter hair. About 20 percent of 23andMe customers report having light or dark blond hair.

<h6>Why is this important?</h6>

While blond hair is most common in people of Northern European ancestry, it is also found in people without European ancestry. But the biology behind blond hair in those populations is different. For example, between five to ten percent of<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3481182/"> Solomon Islanders </a>have blond hair that is caused by a single variant in the TYRP1 gene.


Why is it even important to study these kinds of traits you might ask?

Part of the reason researchers look at traits like hair and eye color, is because it provides a broader insight into the biology of complex traits. The color of your hair is not as simple as many might think. For instance, simply having one or two blond hair alleles does not mean that you will have blond hair. In fact, most people with just two blond hair variants don’t have blond hair. Only in people with five or more blond hair alleles do we see a majority of them with light hair.
<h6>Complex Traits</h6>
By studying complex traits like hair color scientists can sometimes gain better understanding about the genetics of other conditions.
Just looking at research about blond hair, for example, has informed scientists about the finely tuned process of gene expression.
<a href="https://www.nature.com/ng/journal/v46/n7/full/ng.2991.html">A 2014 study</a> led by researchers at Stanford looked specifically at the variant nearby, but not in the KITLG gene. The study was fascinating because the researchers showed that  a variant in so-called &#8220;junk&#8221; DNA has a strong influence on the expression of KITLG. This in turn influences hair color. Instead of simply turning on or off expression of the KITLG gene, this variant dialed down the gene expression levels, changing the hair color along a blond to brown gradient.
<div id="attachment_22180" style="width: 650px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22180" class="size-large wp-image-22180" src="https://blog-api.23andme.com/wp-content/uploads/2015/02/blond_hair_snps-640x196.jpg" alt="The frequencies of three genetic variants associated with blond hair across Eurasia. " width="640" height="196" />The frequencies of three genetic variants associated with blond hair across Eurasia.</div>

23andMe Blog

23andMe Blog Team

Blonde on Blonder

So where did that red hair come from? 
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</code>by Kasia Bryc, 23andMe Population Geneticist 
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</code>Most people who see my unruly wild <img loading="lazy" decoding="async" class="alignright wp-image-21956 size-medium" src="http://35.88.189.111/wp-content/uploads/2014/11/Kasia1-197x300.jpg" alt="" width="197" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2014/11/Kasia1-197x300.jpg 197w, https://blogcms.23andme.com/wp-content/uploads/2014/11/Kasia1.jpg 369w" sizes="auto, (max-width: 197px) 100vw, 197px" /> 
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As a first generation immigrant from Poland, I don’t have any ancestors from Ireland.
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<h2>Recessive Trait</h2>
Yes, really, just take a look at my 23andMe Ancestry Composition results.
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Yet it is true that red hair is strongly tied to Ireland. Over 10 percent of 23andMe customers of Irish heritage, whose four grandparents were born in Ireland, have red hair. In most other parts of continental Europe, red hair is less common, and its frequency tends to hover between one and three percent. 
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</code>For me, my red hair holds special significance. Both my parents had brown hair, yet both my brother and I have red hair, thanks to the joys of recessive inheritance (No, we’re not adopted. And yes, our family relationships have been confirmed genetically through 23andMe). 
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</code>Red hair acts, for the most part, like a recessive trait, meaning that you need two copies of the red-hair genetic variant to see red hair. Which explains why my parents, each carrying one copy of the variant, didn’t have red hair, but could pass it on to their children by chance, which they did, twice. 
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As a child I puzzled over my hair color – it seemed rather poor camouflage, and surely ill-adapted – how could a trait as odd as red hair have come to be? 
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</code>That early fascination with human traits and evolution helped lead me to a career as a population geneticist. Nowadays I love wrangling with just such questions as I study the genetics of people across the globe. 
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</code>The red hair gene 
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</code>To dive into the genetics of red hair, we first have to understand the function of a gene called the Melanocortin 1 Receptor (MC1R). MC1R acts as a lever that toggles the cells to produce a brown or black pigment instead of producing a reddish yellow pigment. The color of the pigment, and how much is produced, leads to much of the diversity in appearance of humans around the world.
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Genetic mutations can change the normal function of MC1R, leading to a loss of function. That means that the protein the gene makes is changed so much that it doesn’t work as it should. So the pigment-producing cells don’t get their signal to make black-brown pigment that is so protective against the sun’s harmful UV rays,and instead produce more reddish yellow pigment, which, in your hair, gives it a red color.
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About 90 percent of 23andMe customers who report having red hair carry at least one of three of the most common genetic variants associated with red hair variants. Though there are other known and unknown variants involved in determining human pigmentation.
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<h2 class="tablepress-table-name tablepress-table-name-id-1">Do you carry one of these variants associated with red hair?</h2>
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<td class="column-1">R151C</td>
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<td class="column-1">R160W</td>
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Three variants highly associated with red hair among 23andMe customers. Not yet a customer? Visit our store!
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</code>For a long time, red hair was thought to be an adaptive trait. Not the hair color itself, but rather, red hair and lighter skin pigmentation are a bit of a package deal, and this lighter pigmentation was thought to be adaptive in northern Europe. Lighter skin color allows the skin to produce sufficient vitamin D when levels of light are low, when you don’t get sufficient levels of the vitamin through your food (such as from fish). So if you were a farmer in, say, Ireland, lighter skin would help you keep your vitamin D levels sufficiently high.
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However, there has been a surprising dearth of evidence for positive selection of red hair in Europeans, and there seems to be no association between red hair and the evolution of light skin in European populations. In contrast, the gene SLC24A5, which is involved with skin pigmentation, has a strong signal of selection. So it seems that for red hair, the vitamin D hypothesis isn’t really substantiated by science. 
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</code>Instead, the current theory most evolutionary scientists believe suggests that selective pressure to maintain proper protective black-brown pigmentation is highly constrained in regions closer to the equator that have strong sun exposure. The production of black-brown pigment, necessitating a functioning MC1R gene, helps shield cells from ultraviolet radiation that can increase the risk of skin cancer. 
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</code>In the far north, it seems, that selection may be relaxed. Comparing the human MC1R gene sequence to a chimpanzee’s genome suggests there was a lot of functional constraint on this gene&#8230; right up until humans migrated out of Africa. Mutations in MC1R that take away production of black-brown pigment may matter less where the sunlight isn’t as powerful. As a result, we observe these mutations, and the accompanying red hair. Sometimes, the mutations drift up in frequency by chance, and red hair becomes (more) common. 
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</code>For an even more nuanced contemplation of skin pigmentation and adaptation, and its possible relationship to the switch from hunter-gatherer lifestyles to farming, check out this read.
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<h2>Where are 23andMe customers with red hair from?</h2>
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</code>A closer look at the three most common red hair variants among 23andMe customers shows that red hair allele frequency in Europe does correlate with distance from the equator. The variant that is most common (and is involved in a third of red hair among 23andMe customers) is R151C. Unsurprisingly, this variant is most common in individuals whose grandparents were born in Ireland and in the UK.
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Over 50 percent of 23andMe redheads carry at least one copy of this variant. Are you one of them?
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The variant D294H is also most frequent in Ireland, but overall it is less prevalent, and found in a limited range: mostly Ireland, the UK, and France, Switzerland, and Belgium.
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Unlike the first two, the variant that I carry, R160W, isn’t most common in Ireland. Instead, it is found at its highest frequencies in Sweden and Lithuania, as well as other parts of Scandinavia, Central and Eastern Europe.
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So what do these maps of variants tell us about why red hair might have come to be?
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Well, there does seem to be a correlation between where the variants lie – each variant is most frequent above the 35th parallel, which suggests that there may really be a relaxed selective constraint on MC1R function this far north of the equator.
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<h2><img loading="lazy" decoding="async" class="alignright size-medium wp-image-22093" src="https://blog-api.23andme.com/wp-content/uploads/2015/01/redhair-world-300x300.jpg" alt="redhair world" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/01/redhair-world-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/01/redhair-world-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2015/01/redhair-world-768x768.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/01/redhair-world-880x880.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2015/01/redhair-world-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2015/01/redhair-world-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2015/01/redhair-world-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2015/01/redhair-world-980x980.jpg 980w, https://blogcms.23andme.com/wp-content/uploads/2015/01/redhair-world.jpg 1000w" sizes="auto, (max-width: 300px) 100vw, 300px" />Research</h2>
In researching traits among 23andMe customers, I learned a lot about red hair. I was amazed at how the genetics of just one trait are so complex. For example, not everyone with two MC1R variants reports having red hair. Isn’t that how recessive traits should work?
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But instead, red hair variants aren’t completely penetrant, meaning they don’t always cause the trait. The variant that I carry, R160W, is especially illustrative: only 50 percent of individuals that carry two copies of this variant have red hair.
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On a personal level, I felt reassured that what I knew about my family’s history was consistent with what I found to be true about red hair. But even more, I realized just how widespread red hair variants are across Europe, especially its northern reaches.
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Kasia Bryc

No, I’m Not Irish

Why some people will have a hangover the morning after they ring in the New Year this year and others won’t, can at least be partially explained by genetics.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2014/12/Wine-bottle-300x199.jpg" alt="Wine bottle" class="alignright size-medium wp-image-22045" width="300" height="199" />
There’s a lot of variability in how people respond to drinking. A lucky few, about 20 percent, have few symptoms from imbibing too much. But the rest of us pay for a night of indulging with a mix of symptoms that might include a headache, or nausea, or cloudy thinking or all of the above.
<a href="http://www.theguardian.com/science/sifting-the-evidence/2014/dec/12/hangover-severity-genetic-alcohol-inherited" target="_blank" rel="noopener noreferrer">Two studies</a> published earlier this year looked at those differences. Researchers in both studies examined data from twin studies and found that genetics explains about half the “heritability” of hangovers.
Scientists look at heritability to try gauge how variation of a certain trait or condition within a population can be explained by genetics versus how much can be explained by environmental influences. The proportion of variation within a population that’s explained by genetics is known as heritability. 
In this case, the heritability of hangovers is about 50 percent. In other words about 50 percent of the differences between those who have a hangover and those who don’t is explained by genetics. Using identical and fraternal twins allows researchers to isolate environmental and genetic influences.
Unlike <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2442454/" target="_blank" rel="noopener noreferrer">other studies</a> that have looked at specific genetic variants involved in how individuals respond to alcohol or variants that influence the risk for <a href="https://www.ncbi.nlm.nih.gov/pubmed/25439982" target="_blank" rel="noopener noreferrer">alcohol dependence</a>, these studies tried to ascertain how much of the differences in how people respond to a night of drinking is influenced by genetics versus how much is influenced by environmental factors.
In one study that looked at data that was first compiled in the early 1970s among about 13,000 adult male twins living in Australia. The researchers again looked at the data that included information about alcohol consumption, intoxication and hangovers. The other study also looked at data from about 4,500 twins, both men and women, and found that genetics accounted for 45 percent of the difference in hangovers.

Cheers!

A new study suggests that genetics plays a much bigger role in ALS than previously thought. 
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Past estimates said genetics accounts for about 10 percent of cases. But a new study by researchers at Cedars-Sinai and Washington University in St. Louis suggest that as many as one in three cases of ALS can be tied to genetics.
The finding sheds light on the possible genetic origin of the disease. This is important particularly for patients who have had no family history for it.
<h6>Lou Gehrig&#8217;s Disease</h6>
Amyotrophic Lateral Sclerosis, also known as <a href="http://www.lougehrig.com/about/news/07-02-14.html" target="_blank" rel="noopener noreferrer">Lou Gehrig&#8217;s Disease</a>, is a <a href="http://ghr.nlm.nih.gov/condition/amyotrophic-lateral-sclerosis" target="_blank" rel="noopener noreferrer">rare neurodegenerative disease.</a> It is marked by a wasting of nerve cells that control the muscles in your body. It is often fatal. Right now there is no cure for ALS. In 90 percent of the case, clinicians cannot point to a cause. It was thought that most of those so-called “sporadic” cases were the result of environmental factors.
But this new study in the Annals of Neurology, suggests that genetics may play a role in many of those cases. 
<h6>The Genetics</h6>
Previous studies have identified about a dozen genetic variants associated with ALS. Among those are variants in the C90RF72 gene and in another gene, SOD1. But the Cedar-Sinai and Washington University study identified many more rarer variants associated with ALS. Researchers suggest that alone these variants may not have a big impact, but acting in combination they do.
The hunt for the causes and possible treatments for ALS got a boost over the summer through the viral spread of the <a href="http://www.alsa.org/fight-als/ice-bucket-challenge.html" target="_blank" rel="noopener noreferrer">“ALS Ice Bucket Challenge”</a> social media campaign.
The campaign generated some <a href="http://www.telegraph.co.uk/men/the-filter/virals/11040688/Ice-bucket-challenge-40-of-the-best-videos-so-far.html" target="_blank" rel="noopener noreferrer">pretty good videos.</a> More importantly for researchers the campaign brought in <a href="http://www.bostonglobe.com/lifestyle/health-wellness/2014/08/28/will-million-raised-from-ice-bucket-challenge-yield-cure-for-als/SMDz3n4GxByCZ9RaAVtZ2J/story.html" target="_blank" rel="noopener noreferrer">close to $100 million</a> during the summer. The ALS Association, recently gave researchers at Cedar-Sinai $1.6 million to support their work on the disease.

Study Says Genetics May Play Larger Role in ALS

A <img loading="lazy" decoding="async" class="alignright size-medium wp-image-11065" src="https://blog-api.23andme.com/wp-content/uploads/2012/02/iStock_000014838144XSmall-300x199.jpg" alt="new born baby" width="300" height="199" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/02/iStock_000014838144XSmall-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/02/iStock_000014838144XSmall.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />parents they surveyed would like to have their newborns sequenced for medical conditions and disorders.
“Several other studies have measured parents’ interest in newborn genomic screening, but none focused on new parents in the first 48 hours,” <a href="http://www.genomes2people.org/director/" target="_blank" rel="noopener noreferrer">Dr. Robert C. Green</a> told the Boston Herald this week. “Since this is when genomic testing would be of the greatest value, it is vital to study parents’ attitudes immediately post-partum.”
<h2>BabySeq</h2>
A geneticist and researcher at Harvard Medical School, Dr. Green has done a series of studies to gauge attitudes about personal genetic testing and the impact the information has on participants.
The focus of this study, called BabySeq and funded by the National Institutes of Health, looks specifically at the sequencing of newborns. Other studies done by Dr. Green and his team have looked more broadly at genetic testing –including personal genetic testing, and its impact on health outcomes and whether the testing results in undue anxiety.
In this latest study, Dr. Green asked parents shortly after the birth of their child whether they would want to have their child sequenced. There is already extensive state-mandated newborn screening for various inherited life-threatening conditions. It’s one of the most established and successful public health programs globally. However, sequencing newborns would add a much more extensive screen.
<h2>Parents Point of View</h2>
The researchers talked with 514 parents within 48 hours of their baby&#8217;s birth. After the parents were given a brief explanation of genetics and what it can say about one’s health and risks for certain conditions, they were asked whether they would want their newborns sequenced. About 83 percent expressed interest. The breakdown of the survey showed that about 18 percent of parents were “extremely interested,” 28 percent were “very interested,” and 37 percent were “somewhat interested.”
The researchers point out that as sequencing becomes more affordable and if parental interest remains high, further research will be important to assess how well parents understand the results they would get from sequencing and the impact that testing would have on public health.

Newborns And Sequencing

This interview is part of an occasional series of profiles introducing you to the people behind 23andMe’s content curation team. This team of 23andMe scientists has the unique job of determining which genetic<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2014/09/Rob2-200x300.jpg" alt="Rob2" class="alignright wp-image-21583" width="300" height="450" srcset="https://blogcms.23andme.com/wp-content/uploads/2014/09/Rob2-200x300.jpg 200w, https://blogcms.23andme.com/wp-content/uploads/2014/09/Rob2-768x1152.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2014/09/Rob2-683x1024.jpg 683w, https://blogcms.23andme.com/wp-content/uploads/2014/09/Rob2-587x880.jpg 587w, https://blogcms.23andme.com/wp-content/uploads/2014/09/Rob2-787x1180.jpg 787w, https://blogcms.23andme.com/wp-content/uploads/2014/09/Rob2-scaled.jpg 1707w" sizes="auto, (max-width: 300px) 100vw, 300px" /> associations will be reported to customers. They have a rigorous process. Along with combing through scientific literature, they vet genetic information and published scientific findings. They ensure that all of that meets our standards for inclusion, and that directly impacts what you see when you log into your 23andMe account. 

“You can store so much information with a four-letter alphabet, and I’ve always been impressed and amazed by that.”
<h6>
What were you researching/doing before you came to 23andMe? </h6>

My doctoral research at The University of Texas Southwestern Medical Center focused on finding genetic Achilles Heels in non-small cell lung cancers with specific cancer-causing mutations so that we could help develop more targeted cancer therapies, specifically for pancreatic, lung and colorectal cancers.

<h6>
Tell us about one of your interesting findings at 23andMe, or in your previous scientific life.</h6>

During my graduate work at UT Southwestern, my lab discovered that manipulating the levels of small regulatory RNA molecules, called microRNAs could change how sensitive lung cancer cells were to commonly used cancer drugs.
<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;">Robert Borkowski, PhD, 
Health Content Scientist 
From: Connecticut 
Education: 
BA, Biochemistry, Wheaton College 
PhD, Genetics and Development, University of Texas Southwestern Medical Center 
Fun Fact: Robert was at the last ever Hartford Whalers hockey game in Hartford.</div>
<h6>
Why are you excited about genetics? </h6>

You can store so much information with a four-letter alphabet, and I’ve always been impressed and amazed by that. In recent years, the scientific community has shed light on how our genes influence our health and development, but this is still just the tip of the iceberg. There are lots of opportunities to integrate genetics into people&#8217;s everyday decisions, and it&#8217;s really exciting to think about what&#8217;s left on both of those fronts.


I was attracted to 23andMe after a talk I heard [23andMe CEO] Anne Wojcicki give a talk at the Broad Institute. She explained how 23andMe was on a mission to take genetics and turn it into something useful for people. After my experience in grad school, I knew I wanted to do something consumer-focused. 23andMe seemed like the natural place to pursue that goal.

<h6>
Tell us about a recent breakthrough in genetics research that you think will have a big impact on the industry.</h6>

I believe CRISPR has the potential to accelerate research into the function of genetic variants and mutations. This type of genetic engineering could allow scientists to change what’s in a piece of DNA in a specific and targeted way. With CRISPR, researchers can manipulate DNA more quickly than historical methods. This would allow them to quickly see if they’re targeting appropriately. If they’re then able to see what a specific mutation does, there are implications for both conventional and gene therapies.
 
<h6> 
Did you learn anything interesting from your 23andMe results?</h6>

I found out that I&#8217;m a carrier of the Factor V Leiden mutation. That means I have a risk factor for deep vein thrombosis. That was a big part of why I switched to a standing desk. I also bought an activity monitor to remind me to not sit still for too long!

<h6>
What&#8217;s one thing the average consumer should know about genetics? </h6>

Genetics is complicated! What&#8217;s hard-coded in the DNA is just the starting point. It&#8217;s important to remember that anything from the way the gene is processed to the person&#8217;s surroundings can influence what a gene does.

A Conversation with Health Content Scientist Robert Borkowski

This interview is part of an occasional series of profiles introducing you to the people behind 23andMe’s content curation team. This team of 23andMe scientists has the unique job of determining which <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2014/09/Bertram2-200x300.jpg" alt="Bertram2" class="alignright wp-image-21582" width="290" height="435" srcset="https://blogcms.23andme.com/wp-content/uploads/2014/09/Bertram2-200x300.jpg 200w, https://blogcms.23andme.com/wp-content/uploads/2014/09/Bertram2-768x1152.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2014/09/Bertram2-683x1024.jpg 683w, https://blogcms.23andme.com/wp-content/uploads/2014/09/Bertram2-587x880.jpg 587w, https://blogcms.23andme.com/wp-content/uploads/2014/09/Bertram2-787x1180.jpg 787w, https://blogcms.23andme.com/wp-content/uploads/2014/09/Bertram2-scaled.jpg 1707w" sizes="auto, (max-width: 290px) 100vw, 290px" />genetic associations will be reported to customers. 
 

“Science is all around us and I love looking at the world through its lens.”
<h6>What were you researching/doing before you came to 23andMe? </h6>

My PhD work focused on improving cancer detection and personalizing treatment approaches. I helped develop a novel magnetic resonance imaging (MRI) technique that enables real-time measurements of tissue metabolism in patients.
In many ways the metabolism of cancer cells is distinct from that of normal cells. Furthermore, the metabolism of aggressive, metastatic cancer cells also differs from that of benign, localized cancers. The MRI techniques I helped develop are used to differentiate benign tumors from metastatic ones. With this technique, physicians will be able to personalize treatment approaches and monitor tumor regression. 


<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;">Bertram Koelsch, PhD, Health Content Scientist 
From: Longmont, CO 
Education: 
BS, Chemical Engineering, University of Notre Dame 
MS, Biomedical Engineering, ETH Zurich 
PhD, Bioengineering, UC Berkeley and UCSF 
Fun Fact: Bertram has recently taken an interest in studying the science of cooking. For example, he’s learned that the Maillard reaction produces various chemical compounds that both contribute to flavor and brown color when you cook foods at high temperatures.</div>
<h6>
Why are you excited about genetics?</h6>

I&#8217;m excited about the role that genetics plays in understanding ourselves and our health. The broad use of genetic screening is changing society&#8217;s approach to health. Traditionally, doctors could only reactively treat diseases. But, as genetic screening becomes readily available and as everyone learns about their genetic risks for disease, they can take proactive steps to prevent or manage them.


Thinking even further into the future, epigenetics will also play a prominent role in society&#8217;s ability to manage health and treat diseases. This growing field studies how individual genes can be turned on and off. We can envision a time when treatments will be able to target specific genes, regulate the expression of the associated proteins through epigenetic modifications and thereby cure a disease.

<h6>
Tell us about a recent breakthrough in genetics research that you think will have a big impact on the industry.</h6>

The rapid decrease in the cost of gene sequencing is allowing scientists to focus on smaller and more targeted genetic studies. This means that small groups of people can unlock the role that genetics plays in their lives.


One example is a recent paper in <a href="https://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3067.html" target="_blank" rel="noopener noreferrer">Nature Genetics</a> that caught my attention, in part because I enjoy mountaineering. In the paper, Lorenzo et al. discuss a newly discovered genetic mutation that improves that ability of Tibetans to live at high altitudes, often upwards of 10,000 feet. As the typical low-lander goes to higher altitudes and encounters air with a lower oxygen concentration, their body responds in several ways to supply tissue with sufficient oxygen. One response may be an increase in the number of red blood cells in the blood, which can lead to a form of chronic altitude sickness. But, the mutation found in the Tibetan&#8217;s protects them from developing red blood cell counts that are too high by altering their body&#8217;s response to low oxygen levels in their tissue.
<h6>Did you learn anything interesting from your 23andMe results?</h6>

My 23andMe results brought genetics alive for me and allowed me to see how it influenced my daily life. For example, I was always perplexed by the ability of my wife to drink an espresso immediately before bed and still sleep soundly! On the few occasions that I tried this, I would lay awake in bed for hours. Surely enough, our 23andMe results showed that we have different abilities to metabolize caffeine &#8211; she metabolized it rapidly while I do slowly.

<h6>
What&#8217;s one thing the average consumer should know about genetics?</h6>

It&#8217;s not &#8220;nature vs. nurture,&#8221; but rather &#8220;nature and nurture.&#8221; Our genetic makeup is only part of the equation that defines us. Our environment and lifestyles also contribute to who we are and who we will become. Thus, knowing our genetic risks for developing a certain health condition is not worrisome, but rather empowers us to mitigate our non-genetic risks in a more targeted fashion.

A Conversation with Health Product Scientist Bertram Koelsch

This interview is part of an occasional series of profiles introducing you to the people behind 23andMe’s content curation team. This team of 23andMe scientists has the unique job of <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2014/09/Shirley--200x300.jpg" alt="Shirley" class="alignright size-medium wp-image-21570" width="200" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2014/09/Shirley--200x300.jpg 200w, https://blogcms.23andme.com/wp-content/uploads/2014/09/Shirley--768x1152.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2014/09/Shirley--683x1024.jpg 683w, https://blogcms.23andme.com/wp-content/uploads/2014/09/Shirley--587x880.jpg 587w, https://blogcms.23andme.com/wp-content/uploads/2014/09/Shirley--787x1180.jpg 787w, https://blogcms.23andme.com/wp-content/uploads/2014/09/Shirley--scaled.jpg 1707w" sizes="auto, (max-width: 200px) 100vw, 200px" />researching, evaluating, and developing the health-related information that is reported to customers. Their rigorous process of combing through scientific literature, vetting genetic information and ensuring that published scientific findings meet our standards for inclusion, directly impacts what you see when you log into your 23andMe account. As director of science content and curation, Shirley manages that team of scientists. 
“DNA is a history of all the life on the planet that led us to this point.”


What were you researching before you came to 23andMe?

I was researching computational methods for predicting protein function. The human genome has instructions for making about 20,000 proteins but we only know what a fraction of those proteins actually do. Running experiments with live proteins to figure that out is complicated, expensive, and time intensive. Some researchers have been trying to predict what proteins do based on other information that we already have, like the sequence of the protein or its 3D structure. My research focused on distilling structural elements of proteins into data points and trying to learn patterns of what certain types of functions &#8220;look&#8221; like. Given enough examples of proteins that can bind calcium, can we recognize calcium-binding sites in other proteins? The better we can make computational tools like this, the faster we can determine what proteins do and the better we can focus downstream research in areas like drug development. 


<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">Shirley Wu, PhD Director of Science Content and Curation

From: New Jersey

Education:

BA, Computational Biology, Brown University

PhD, Biomedical Informatics, Stanford

Fun Fact: Shirley played competitive Ultimate Frisbee, which included Junior Worlds, College, and Club championship titles.
</div>
Why are you excited about genetics?

Genetics is universal to all living things. At the same time, it&#8217;s responsible for the remarkable amount of diversity on this planet. It&#8217;s fascinating to think about how our DNA is a history of the life that came before us. Genetics is also a really powerful tool for understanding our present world and for solving important problems in health and food production.
I was attracted to 23andMe because I’m interested in democratizing science and making it accessible to consumers. I like to think about what kinds of research we can translate for our customers &#8211; research we’re doing in-house and external research that’s making connections between DNA and health. We want to look at those connections and share what’s interesting and valuable.


Tell us about a recent breakthrough in technology that you think will have a big impact on the industry.

I’m interested in what’s happening with activity tracking devices and the increasingly common collection of data by consumers. People are currently gathering data on a scale that’s much broader than ever before, and that expands the potential for what researchers will be able to learn.
It won&#8217;t be easy to translate this data into knowledge that can improve health, but greater access to data and improved methods for analysis will allow more people to participate and experiment. Historically, medical science has also focused on populations, rather than individuals, but with new ways of gathering and thinking about data we may be able to &#8220;study&#8221; individuals over time and learn enough about the factors that affect them to benefit them in their lifetime.


Tell us about one of your interesting findings at 23andMe. 

23andMe conducted the largest genome-wide association study (GWAS) of cilantro taste preference where we compared genetic data from individuals with European ancestry who said they liked fresh cilantro to those who detect a soapy taste. We found a genetic variant near the gene OR6A2 associated with thinking cilantro tasted like soap.
It’s interesting to look at something that’s so polarizing and find that there’s a genetic connection related to olfactory receptors. This research in particular, is a good example of a question that other researchers aren’t studying – a list that includes things like how flexible you are, how you smell and other things that could have an impact on your health and well being.
At 23andMe, we can look at questions like this and do research that no one else can do because our large database and platform for research lets us quickly see if there’s an association without having to write a new protocol, recruit participants, analyze research and then do it all again to ask a marginally different question. We can change the course of our research in real-time and look at lots of associations that help us explain why humans are the way we are.
Did you learn anything interesting from your 23andMe results? Did you make any changes as a result of taking the test?

I learned that I have one copy of the alcohol flush gene, which I was able to trace to my father. It was fun to see how inherited traits play out in real life.


What&#8217;s one thing the average consumer should know about genetics?

It’s useful for people to understand the concept of inheritance. We get half of our DNA from our mom and half from our dad. Those halves are two copies of the same thing, so we get a full set of chromosomes from each parent, and the slight differences in how those halves are passed down is what leads to the variation between people. While your siblings also inherit half of their DNA from each parent, they don’t inherit the exact same halves that you did (unless you’re identical twins), so brothers and sisters share about 50 percent of their DNA.

Talking 23andMe’s Director of Science Content and Curation

This interview is part of an occasional series of profiles introducing you to the people behind 23andMe’s content curation team. This team of 23andMe scientists has the unique job of determining which genetic associations will be reported to customers. Their rigorous process of combing through scientific literature, vetting genetic information and ensuring that published scientific findings meet our standards for inclusion, directly impacts what you see when you log into your 23andMe account. <img loading="lazy" decoding="async" class="alignright wp-image-21548 size-medium" src="http://35.88.189.111/wp-content/uploads/2014/09/Bethann-Hromatka-2-254x300.jpg" alt="" width="254" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2014/09/Bethann-Hromatka-2-254x300.jpg 254w, https://blogcms.23andme.com/wp-content/uploads/2014/09/Bethann-Hromatka-2-768x909.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2014/09/Bethann-Hromatka-2-866x1024.jpg 866w, https://blogcms.23andme.com/wp-content/uploads/2014/09/Bethann-Hromatka-2-744x880.jpg 744w, https://blogcms.23andme.com/wp-content/uploads/2014/09/Bethann-Hromatka-2-997x1180.jpg 997w" sizes="auto, (max-width: 254px) 100vw, 254px" />
“Our job is to differentiate the real data from the noise.”
Bethann Hromatka, Ph.D. is a health content manager at 23andMe. Previously, she double-majored in Biology and Spanish at the University of Oregon, where she started her career as a bench researcher studying maize genetics. After completing her Bachelor of Arts, Bethann researched RNA splicing, yeast genetics and Candida albicans host-pathogen interactions (the yeast that causes yeast infections). She completed her Ph.D. at University of California, San Francisco in reproductive biology. There she studied the development of the human placenta and pregnancy complications, including placental malaria. 
In her current role, Bethann helps manage the content curation process, developing the reports that consumers will see on the website and providing documentation as part of the FDA submission process.
<h6>What were you researching before you came to 23andMe? </h6>
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">Bethann Hromatka, PhD Health Content Scientist 
From: Stillwater, Minnesota 
Education: 
BA, Biology and Spanish, University of Oregon 
PhD, Reproductive Biology, UC, San Francisco 
Fun Fact: Working mother of infant twins</div>
Most recently I researched malaria infection during pregnancy and glycosylation during the development of the human placenta. I was a bench researcher for more than 10+ years, which included time spent isolating and analyzing DNA, RNA and proteins, as well as dissecting human placental tissue and growing human cells and malaria.
<h6> 
How does your previous experience relate to what you do at 23andMe?</h6>
I have a broad research background, from studying maize and yeast, to reproduction and infectious diseases. Most of what I’ve worked on has been human-based research, and therefore I had a broad view of human disease, which is very closely tied to what we do at 23andMe.
Part of the job of any Ph.D. student is to stay on top of scientific literature as it relates to your work. Those same analytical reasoning skills apply to writing 23andMe’s health report content. There’s often a flood of research studies and we have to decide what’s relevant and what’s not by critically evaluating the most recent literature. In that way, our job is to differentiate the real data from the noise. In doing so, we’re setting the standard for aggregating research.
<h6>
Why are you excited about genetics?</h6>
Genetics is fundamental to human existence and touches our lives in so many ways. It explains a lot about why we act and look a certain way, and plays a big role in helping us stay healthy or increasing our risk for disease.
<h6>Tell us about one of your interesting findings at 23andMe. </h6>
It’s estimated that up to 70 percent of a person’s risk for motion sickness is due to genetics, but the genetics of motion sickness was traditionally poorly understood. At ASHG 2012, I presented results from a genetic study of more than 80,000 23andMe customers who were surveyed about motion sickness. The analysis identified 35 genetic associations with motion sickness that fall into a few different biological categories. Some genetic variants are involved in development, including development of the eye and ear. Other variants are involved in neurological processes as well as glucose and insulin regulation.
<h6>Tell us about a recent breakthrough in genetics research that you think will have a big impact.</h6>
I’m interested in the new fetal DNA blood-based tests for trisomies. With this kind of test, most pregnant women no longer need to undergo invasive and scary testing (e.g., chorionic villus sampling and amniocentesis) for Down syndrome and other trisomies.
<h6>What’s something interesting you learned from your 23andMe results?</h6>
Through testing with 23andMe, I learned that I’d inherited two mutations for hereditary hemochromatosis, also known as iron storage disease. While my particular combination of mutations only posed a slight risk for developing iron overload, I decided to share the information with my physician to see if follow-up testing was warranted. In the end, I made lifestyle changes to push my iron markers into the healthy range, and I’ve also talked to my family about their risk for developing the condition.
<h6>What&#8217;s one thing the average consumer should know about genetics?</h6>
Knowing about your genetics can help you be more proactive about staying healthy.

Health + Traits — Page 24