tag:theconversation.com,2011:/africa/topics/gene-4910/articlesGene – The Conversation2022-05-08T12:22:48Ztag:theconversation.com,2011:article/1812302022-05-08T12:22:48Z2022-05-08T12:22:48ZOnce the slick is gone: New tool helps scientists monitor chronic oil in Arctic wildlife<figure><img src="https://images.theconversation.com/files/461107/original/file-20220503-25-juotko.jpg?ixlib=rb-1.1.0&rect=0%2C0%2C2658%2C1665&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Sea lions, otters and birds were some of the many wildlife species that were hit hard by the 1989 Exxon Valdez oil spill in Alaska. Oil spills like these expose the wildlife to new contaminants and can be fatal.</span> <span class="attribution"><span class="source">(AP Photo/Jack Smith, File)</span></span></figcaption></figure><iframe style="width: 100%; height: 100px; border: none; position: relative; z-index: 1;" allowtransparency="" allow="clipboard-read; clipboard-write" src="https://narrations.ad-auris.com/widget/the-conversation-canada/once-the-slick-is-gone--new-tool-helps-scientists-monitor-chronic-oil-in-arctic-wildlife" width="100%" height="400"></iframe>
<p>When we think about the Arctic, most of us think of a snow-covered barren landscape and vast stretches of icy ocean. This is far from the reality of the Canadian Arctic today. With approximately <a href="https://arctic-council.org/about/states/canada/">150,000 people calling it home,</a> this region is certainly not barren.</p>
<p>The Arctic is warming <a href="https://www.science.org/content/article/arctic-warming-four-times-faster-rest-world">faster than anywhere else on Earth</a>. This stark increase in temperature affects wildlife, plants and humans and results in less sea ice, which many predators and hunters use year-round. </p>
<p>The loss of sea ice is also making the North more accessible than ever, thus increasing the probability of major oil spills as ship and tanker traffic multiplies. These spills expose the wildlife to new contaminants, including polycyclic aromatic compounds — the main contaminant in oil spills — which can cause <a href="https://doi.org/10.3390/ijerph17041363">cancer in birds.</a> </p>
<p>This influx of new contaminants in the environment makes it challenging for researchers to monitor their effect on wildlife. After studying ways to monitor the quantity and variety of contaminants in Arctic wildlife, we have created a new tool — <a href="https://doi.org/10.1021/acs.est.1c00229">ToxChip</a> — to analyze changes in the DNA of animals exposed to oil and solve this challenge.</p>
<h2>Increased oil exploration and extraction</h2>
<p>Between 1995 and 2015, shipping traffic <a href="https://doi.org/10.14430/arctic4698">nearly tripled in the Canadian Arctic</a> due to depleting sea ice. Newly accessible shipping routes, including the Northern Sea Route, <a href="https://transportgeography.org/contents/chapter1/transportation-and-space/polar-shipping-routes/">cut transit time between East Asia and Western Europe by about 10 days</a>.</p>
<figure class="align-left zoomable">
<a href="https://images.theconversation.com/files/461231/original/file-20220504-27-z7xzez.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="oil" src="https://images.theconversation.com/files/461231/original/file-20220504-27-z7xzez.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/461231/original/file-20220504-27-z7xzez.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=896&fit=crop&dpr=1 600w, https://images.theconversation.com/files/461231/original/file-20220504-27-z7xzez.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=896&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/461231/original/file-20220504-27-z7xzez.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=896&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/461231/original/file-20220504-27-z7xzez.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=1126&fit=crop&dpr=1 754w, https://images.theconversation.com/files/461231/original/file-20220504-27-z7xzez.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=1126&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/461231/original/file-20220504-27-z7xzez.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=1126&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">The Exxon Valdez tanker discharged over 37,000 tonnes of crude oil in Alaska’s Prince William Sound, killing thousands of birds and other wildlife.</span>
<span class="attribution"><span class="source">(AP Photo/John Gaps III)</span></span>
</figcaption>
</figure>
<p><a href="https://www.offshore-technology.com/features/oil-spills-in-the-ocean-arctic/">As the Arctic contains around 13 per cent of the world’s unexploited oil</a>, the race to claim this precious resource is on. Unfortunately, more extraction and shipping in the Arctic will inevitably lead to more oil spills.</p>
<p>The infamous Exxon Valdez spill in 1989 discharged nearly 37,000 tonnes of crude oil into Alaska’s southern coast, <a href="https://doi.org/10.2307/4087623">killing over 30,000 birds</a>. </p>
<p>More recently, a <a href="https://www.theguardian.com/environment/2020/jun/03/vladimir-putin-orders-state-of-emergency-huge-fuel-spill-siberia-power-plant-kerch">fuel tank at a power plant released 20,000 tonnes of diesel into the Ambarnaya river</a> in Russia in 2020.</p>
<p>The main compounds found in oil and petroleum products called polycyclic aromatic compounds, or PACs, can <a href="https://doi.org/10.1006/jmsc.1997.0254">harm birds in the marine environment</a>. When emitted through exhaust or spills, these chemicals make their way into wildlife and plants in the area. They easily attach to <a href="https://doi.org/10.1007/978-1-4612-2542-3_4">fat in animals and can accumulate in them throughout their lifetime</a>.</p>
<h2>Birds reveal environmental contaminants</h2>
<p>Seabirds are especially vulnerable to the effects of oil, as they feed on the water surface. Oil can coat a bird’s feathers, <a href="https://www.ctvnews.ca/climate-and-environment/how-oil-spills-harm-birds-dolphins-sea-lions-and-other-wildlife-1.5613181">making them unable to fly or regulate their temperature</a>. </p>
<figure class="align-right ">
<img alt="A bird with oil-covered wings" src="https://images.theconversation.com/files/461215/original/file-20220504-23-euyt2q.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/461215/original/file-20220504-23-euyt2q.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/461215/original/file-20220504-23-euyt2q.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/461215/original/file-20220504-23-euyt2q.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/461215/original/file-20220504-23-euyt2q.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/461215/original/file-20220504-23-euyt2q.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/461215/original/file-20220504-23-euyt2q.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Birds with oil-covered feathers are unable to fly or regulate their body temperature.</span>
<span class="attribution"><span class="source">(Shutterstock)</span></span>
</figcaption>
</figure>
<p>Birds also clean their feathers with their beaks, which introduces oil into their digestive system. Oil and petroleum products also affect birds, <a href="https://doi.org/10.1139/er-2015-0086">causing stunted limbs, reduced breeding and population declines</a>.</p>
<p>In fact, there are documented long-term effects on ducks, <a href="https://doi.org/10.3354/meps241271">whose survival rates were lower compared to non-oiled birds for at least 11 years after a spill</a>.</p>
<h2>New technologies can help track contaminants</h2>
<p><a href="https://www.genome.gov/about-genomics/fact-sheets/Biological-Pathways-Fact-Sheet">Each gene in an animal’s DNA</a> contributes to a specific natural function. Some genes are responsible for regulating an animal’s metabolism, while others take care of suppressing tumours. Therefore, if a specific gene is induced after exposure to a contaminant like oil, we can tell what biological processes have been affected. </p>
<p>Changes in an animal’s gene expression — ability to convert DNA instructions into functional products, like protein — can tell us a lot about <a href="https://doi.org/10.1016/j.scitotenv.2013.08.034">how it responds to a specific chemical, or group of chemicals</a>. <a href="https://doi.org/10.1002/etc.4309">Current methods to measure the contaminants in animals</a> are costly, rely heavily on lab animal use and can only measure the effects of one contaminant at a time.</p>
<p>We have developed a new tool called a ToxChip, which investigates the effects of contaminants on the DNA level in sensitive genes. It can quickly detect changes in the genes of seabirds in response to a contaminant. The ToxChip can be customized to species, contaminants and genes of interest. </p>
<p><div data-react-class="Tweet" data-react-props="{"tweetId":"1393239149646331906"}"></div></p>
<p>So far, we have developed two ToxChips: one for the black guillemot and one for the thick-billed murre. These seabirds nest on rocky cliffs which serve as breeding grounds. </p>
<p>The guillemot doesn’t stray far from its colony and feeds on fish close to the shore. The thick-billed murre, on the other hand, can travel far from the colony and is known for <a href="https://oceana.ca/en/marine-life/thick-billed-murres/">diving deep into the water to catch their prey</a>. </p>
<p>Both species are far from endangered and their colony populations can reach the millions, making it possible to determine the extent to <a href="https://doi.org/10.1016/j.scitotenv.2017.11.057">which contaminants are affecting the birds</a>. As these birds are heavily reliant on open-water food sources, an oil spill could quickly be detrimental to the entire colony. </p>
<p>ToxChips can be applied following an oil spill to quantify potential sub-lethal or irreversible damage. Different types of PACs can tell us where they come from. PACs from forest fires will have a different chemical make-up than PACs from an oil spill. This ToxChip data allows us to determine the cause of toxicity to seabirds. </p>
<p>Through a recent use of the ToxChip, <a href="https://doi.org/10.1021/acs.est.1c00229">we were able to determine the likely effects from a natural oil seep off the coast on Nunavut</a>.</p>
<h2>A cheaper, faster and more affordable solution</h2>
<p>The future applications of this tool are vast and promising. It can help look at the effects of pesticides on bullfrog’s DNA or the impact of plastic pollution on the biological processes in pink salmon and so on. Species-specific ToxChips can help shape evidence-based policy recommendations or monitoring initiatives that would limit vessel traffic in endangered bird areas during the breeding season.</p>
<p>Monitoring contaminants in wildlife is particularly important to those who rely on local country food. Using these tools can help inform those living in the Arctic if the animals they depend on have been exposed to contaminants.</p>
<p>They can be used as an emergency response to an oil spill. Oil can linger long after the clean-up crews have removed the visible oil from the environment. ToxChips can help understand if seabirds continue to be exposed to oil pollution. </p>
<figure class="align-center ">
<img alt="People are using high pressured hoses to wash oil from rocks on a beach." src="https://images.theconversation.com/files/461352/original/file-20220504-17-dqrbiy.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/461352/original/file-20220504-17-dqrbiy.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=390&fit=crop&dpr=1 600w, https://images.theconversation.com/files/461352/original/file-20220504-17-dqrbiy.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=390&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/461352/original/file-20220504-17-dqrbiy.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=390&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/461352/original/file-20220504-17-dqrbiy.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=490&fit=crop&dpr=1 754w, https://images.theconversation.com/files/461352/original/file-20220504-17-dqrbiy.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=490&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/461352/original/file-20220504-17-dqrbiy.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=490&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">The toxic components and chemicals released in oil spills can stay in the environment despite cleaning efforts.</span>
<span class="attribution"><span class="source">(AP Photo/Rob Stapleton, File)</span></span>
</figcaption>
</figure>
<p>While the tool is still evolving, <a href="https://doi.org/10.1021/acs.est.5b06181">it has been developed</a> for <a href="https://doi.org/10.1021/acs.est.1c00229">two seabird species</a> and is being put into practice currently to assess gene expression changes after a large oil spill and at an old military site with known contamination. </p>
<p>ToxChip projects will make contaminant testing more affordable, more accurate, faster and less dependent on lab animals. It could help reduce the impacts of oil pollution on animals in the future.</p><img src="https://counter.theconversation.com/content/181230/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Jennifer Provencher is affiliated with Environment and Climate Change. </span></em></p><p class="fine-print"><em><span>Yasmeen Zahaby does not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>ToxChips study the changes in the DNA of animals exposed to contaminants, like those found in oil spills.Jennifer Provencher, Adjunct professor, Department of Biology, Carleton UniversityYasmeen Zahaby, Masters Student, Department of Biology, Carleton UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1515392020-12-07T16:06:59Z2020-12-07T16:06:59ZWe scanned the DNA of 8,000 people to see how facial features are controlled by genes<figure><img src="https://images.theconversation.com/files/373138/original/file-20201204-17-3yrbd8.jpg?ixlib=rb-1.1.0&rect=19%2C34%2C3255%2C2025&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Using 3-D facial images researchers have identified changes in the DNA that contribute to variation in facial features. </span> <span class="attribution"><span class="source">Julie D. White</span>, <a class="license" href="http://creativecommons.org/licenses/by-sa/4.0/">CC BY-SA</a></span></figcaption></figure><p><strong>Takeaways</strong></p>
<ul>
<li><p><strong>A new study reveals more than 130 regions in human DNA play a role in sculpting facial features.</strong></p></li>
<li><p><strong>The nose is the facial feature most influenced by your genes.</strong></p></li>
<li><p><strong>Understanding the link between specific genes and facial features could be useful for treating facial malformations or for orthodontics.</strong> </p></li>
</ul>
<hr>
<p>You might think it’s rather obvious that your facial appearance is determined by your genes. Just look in the family photo album and observe the same nose, eyes or chin on your grandparents, cousins and uncles and aunts. Perhaps you have seen or know someone with a genetic syndrome – that often results from a damaging alteration to one or more genes – and noticed the often distinctive facial features.</p>
<p>You may be surprised to learn that until very recently, geneticists had virtually no understanding of which parts of our DNA were linked to even the most basic aspects of facial appearance. This gap in our knowledge was particularly galling since facial appearance plays such an important role in basic human interactions. The availability of large data sets combining genetic information with facial images that can be measured has rapidly advanced the pace of discovery.</p>
<p>So, what do we know about the genetics of facial appearance? Can we reliably predict a person’s face from their DNA? What are the implications for health and disease? We are <a href="https://www.dental.pitt.edu/person/seth-weinberg-0">an anthropologist</a> and <a href="https://www.publichealth.pitt.edu/home/directory/john-r-shaffer">a human geneticist</a> whose research focuses on uncovering the biological factors that underlie the similarities and differences in facial appearance among humans. </p>
<h2>How many genes are associated with facial appearance?</h2>
<p>We still don’t have a complete answer to this question, but <a href="https://doi.org/10.1101/2020.05.12.090555">recent work published in Nature Genetics by our collaborative research team</a> has identified more than 130 chromosomal regions associated with specific aspects of facial shape. Identifying these regions is a critical first step toward understanding how genetics impacts our faces and how such knowledge could impact human health in the future.</p>
<p>We accomplished this by scanning the DNA of more than 8,000 individuals to look for statistical relationships between about seven million genetic markers – known locations in the genetic code where humans vary – and dozens of shape measurements derived from 3D facial images. </p>
<p>When we find a statistical association between a facial feature and one or more genetic markers, this points us to a very precise region of DNA on a chromosome. The genes located around that region then become our prime candidates for facial features like nose or lip shape, especially if we have other relevant information about their function – for example, they may be active when the face is forming in the embryo. </p>
<p>While more than 130 chromosomal regions may seem like a large number, we are likely only scratching the surface. We expect that thousands of such regions – and therefore thousands of genes – contribute to facial appearance. Many of the genes at these chromosomal regions will have such small effects, we may never have enough statistical power to detect them. </p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/373140/original/file-20201204-15-v9led8.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/373140/original/file-20201204-15-v9led8.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/373140/original/file-20201204-15-v9led8.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=300&fit=crop&dpr=1 600w, https://images.theconversation.com/files/373140/original/file-20201204-15-v9led8.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=300&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/373140/original/file-20201204-15-v9led8.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=300&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/373140/original/file-20201204-15-v9led8.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=377&fit=crop&dpr=1 754w, https://images.theconversation.com/files/373140/original/file-20201204-15-v9led8.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=377&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/373140/original/file-20201204-15-v9led8.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=377&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">The figure shows selected locations on Chromosome 2 associated with facial shape. Each face shows the likely candidate gene and its observed effect on facial shape displayed as a color-coded heat map. Red indicates regions of the face moving in an outward direction, and blue indicates regions of the face moving in an inward direction.</span>
<span class="attribution"><span class="source">Adapted from: White J and Indencleef K.</span>, <a class="license" href="http://creativecommons.org/licenses/by-nd/4.0/">CC BY-ND</a></span>
</figcaption>
</figure>
<h2>What do we know about these genes?</h2>
<p>When we look collectively at the implicated genes at these 130-plus DNA regions, some interesting patterns emerged. </p>
<p>Your nose, like it or not, is the part of your face most influenced by your genes. Perhaps not surprisingly, areas like the cheeks, which are highly influenced by lifestyle factors like diet, showed the fewest genetic associations.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/373139/original/file-20201204-13-15txxye.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/373139/original/file-20201204-13-15txxye.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/373139/original/file-20201204-13-15txxye.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=357&fit=crop&dpr=1 600w, https://images.theconversation.com/files/373139/original/file-20201204-13-15txxye.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=357&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/373139/original/file-20201204-13-15txxye.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=357&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/373139/original/file-20201204-13-15txxye.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=448&fit=crop&dpr=1 754w, https://images.theconversation.com/files/373139/original/file-20201204-13-15txxye.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=448&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/373139/original/file-20201204-13-15txxye.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=448&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">No doubt that Kaia Gerber inherited her nose from supermodel mother Cindy Crawford.</span>
<span class="attribution"><a class="source" href="https://www.gettyimages.com/detail/news-photo/kaia-gerber-and-cindy-crawford-attend-her-time-omega-news-photo/855684684?adppopup=true">Bertrand Rindoff Petroff/Getty Images</a></span>
</figcaption>
</figure>
<p>The ways that these genes influence facial shape was not at all uniform. Some genes, we found, had highly localized effects and impacted very specific parts of the face, while others had broad effects involving multiple parts. </p>
<p>We also found that a large proportion of these genes are involved in basic developmental processes that build our bodies – bone formation, for example – and, in many cases, are the same genes that have been implicated in rare syndromes and <a href="https://theconversation.com/joaquin-phoenixs-lips-mocked-heres-what-everyone-should-know-about-cleft-lip-130181">facial anomalies like cleft palate</a>. </p>
<p>We found it interesting that there was a high degree of overlap between the genes involved in facial and limb development, which may provide an important clue as to why <a href="http://doi.org/10.1002/1096-8628(20000717)93:2%3C110::aid-ajmg6%3E3.0.co;2-9">many genetic syndromes are characterized by both hand and facial malformations</a>. In another curious twist, we found some evidence that the genes involved in facial shape may also be involved in cancer – an intriguing finding given emerging evidence that individuals treated for pediatric cancer show some <a href="https://doi.org/10.1002/ajmg.a.37850">distinctive facial features</a>. </p>
<h2>Can someone take my DNA and construct an accurate picture of my face?</h2>
<p>It is unlikely that today, or for the foreseeable future, someone could take a sample of your DNA and use it to construct an image of your face. Predicting an individual’s facial appearance, like any complex genetic trait, is a very difficult task. </p>
<p>To put that statement in context, the 130-plus genetic regions we identified explain less than 10% of the variation in facial shape. However, even if we understood all of the genes involved in facial appearance, prediction would still be a monstrous challenge. This is because complex traits like facial shape are not determined by simply summing up the effects of a bunch of individual genes. Facial features are influenced by many biological and non-biological factors: age, diet, climate, hormones, trauma, disease, sun exposure, biomechanical forces and surgery. </p>
<p>All of these factors interact with our genome in complex ways that we have not even begun to understand. To add to this picture of complexity, genes interact with one another; this is known as “<a href="https://doi.org/10.1038/nrg2452">epistasis</a>,” and its effects can be complex and unpredictable. </p>
<p>It is not surprising then, that <a href="https://doi.org/10.1073/pnas.1711125114">researchers</a> attempting to predict individual facial features from DNA have been <a href="https://doi.org/10.1101/185330">unsuccessful</a>. This is not to say that such prediction will never be possible, but if someone is telling you they can do this today, you should be highly skeptical. </p>
<h2>How might research connecting genes and faces benefit humans?</h2>
<p>One of the most exciting developments in medicine in the 21st century is the use of patients’ <a href="https://doi.org/10.1038/nrg.2016.86">genetic information to create personalized treatment plans</a>, with the ultimate goal of improving health outcomes.</p>
<p>[<em>Deep knowledge, daily.</em> <a href="https://theconversation.com/us/newsletters/the-daily-3?utm_source=TCUS&utm_medium=inline-link&utm_campaign=newsletter-text&utm_content=deepknowledge">Sign up for The Conversation’s newsletter</a>.]</p>
<p>A deeper understanding of how genes influence the timing and rate of facial growth could be an invaluable tool for planning treatments in fields like orthodontics or reconstructive surgery. For example, if someday we can use genetics to help predict when a child’s jaw will hit its peak growth potential, <a href="https://doi.org/10.1016/j.ajodo.2015.09.012">orthodontists</a> may be able to use this information to help determine the optimal time to intervene for maximal effect. </p>
<p>Likewise, knowledge of how genes work individually and in concert to determine the size and shape of facial features can provide new molecular targets for drug therapies aimed at correcting facial growth deficiencies. </p>
<p>Lastly, greater knowledge of the genes that build human faces may offer us new insights into the root causes of congenital facial malformations, which can profoundly impact quality of life for those affected and their families.</p><img src="https://counter.theconversation.com/content/151539/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Seth M. Weinberg receives funding from the National Institutes of Health. </span></em></p><p class="fine-print"><em><span>John R. Shaffer receives funding from the University of Pittsburgh and the National Institutes of Health. </span></em></p>Like it or not, the facial feature most influenced by your genes is your nose. Researchers investigate which genes are involved in sculpting the face.Seth M. Weinberg, Associate Professor in the Departments of Oral Biology, Human Genetics, and Anthropology. Co-Director of the Center for Craniofacial and Dental Genetics, University of PittsburghJohn R. Shaffer, Assistant Professor of Human Genetics, University of PittsburghLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1227642019-09-03T13:40:36Z2019-09-03T13:40:36ZStop calling it a choice: Biological factors drive homosexuality<figure><img src="https://images.theconversation.com/files/290563/original/file-20190902-175705-15kuqu2.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Biological factors shape sexual preference.</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/lgbt-lesbian-couple-moments-happiness-concept-575079754?src=-1-53">Rawpixel.com/SHutterstock.com</a></span></figcaption></figure><p><a href="https://doi.org/10.1126/science.aat7693">Across cultures, 2% to 10% of people report having same-sex relations</a>. In the U.S., <a href="https://www.statista.com/topics/1249/homosexuality/">1% to 2.2% of women and men</a>, respectively, identify as gay. Despite these numbers, <a href="https://www.pewresearch.org/global/2013/06/04/the-global-divide-on-homosexuality/">many people still consider homosexual behavior to be an anomalous choice</a>. However, biologists have <a href="https://us.macmillan.com/books/9780312253776">documented homosexual behavior in more than 450 species</a>, arguing that same-sex behavior is not an unnatural choice, and may in fact play a vital role within populations.</p>
<p>In <a href="https://doi.org/10.1126/science.aat7693">a 2019 issue of Science magazine</a>, geneticist Andrea Ganna at the Broad Institute of MIT and Harvard, and colleagues, described the largest survey to date for genes associated with same-sex behavior. By analyzing the DNA of nearly half a million people from the U.S. and the U.K., they concluded that genes account for between 8% and 25% of same-sex behavior. </p>
<p><a href="https://www.nature.com/news/sex-redefined-1.16943">Numerous studies have established that sex is not just male or female</a>. Rather, it is a continuum that emerges from a person’s genetic makeup. Nonetheless, misconceptions persist that same-sex attraction is a choice that warrants condemnation or <a href="https://www.apa.org/pi/lgbt/resources/just-the-facts">conversion</a>, and leads to discrimination and persecution.</p>
<p><a href="https://wjsulliv.wixsite.com/sullivanlab">I am a molecular biologist</a> and am interested in this new study as it further illuminates the genetic contribution to human behavior. As the author of the book, <a href="https://www.penguinrandomhouse.com/books/608709/pleased-to-meet-me-by-bill-sullivan/9781426220555/">“Pleased to Meet Me: Genes, Germs, and the Curious Forces That Make Us Who We Are,”</a> I have done extensive research into the biological forces that conspire to shape human personality and behavior, including the factors influencing sexual attraction.</p>
<h2>The hunt for ‘gay genes’</h2>
<p>The new finding is consistent with multiple earlier studies of twins that indicated same-sex attraction is a heritable trait.</p>
<figure class="align-left ">
<img alt="" src="https://images.theconversation.com/files/290580/original/file-20190902-175663-baya3w.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/290580/original/file-20190902-175663-baya3w.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=1200&fit=crop&dpr=1 600w, https://images.theconversation.com/files/290580/original/file-20190902-175663-baya3w.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=1200&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/290580/original/file-20190902-175663-baya3w.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=1200&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/290580/original/file-20190902-175663-baya3w.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=1508&fit=crop&dpr=1 754w, https://images.theconversation.com/files/290580/original/file-20190902-175663-baya3w.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=1508&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/290580/original/file-20190902-175663-baya3w.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=1508&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">A new study suggests that genes are responsible for between 8% and 25% of same-sex preference.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-illustration/dna-multi-color-isolated-on-white-717211195?src=-1-47">Guru 3D</a></span>
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</figure>
<p>The 2019 study is the latest in a hunt for “gay genes” that began in 1993, when Dean Hamer <a href="https://doi.org/10.1126/science.8332896">linked male homosexuality to a section of the X chromosome</a>. As the ease and affordability of genome sequencing increased, additional gene candidates have emerged with potential links to homosexual behavior. So-called <a href="https://doi.org/10.1038/s41598-017-15736-4">genome-wide association studies identified a gene called <em>SLITRK6</em></a>, which is active in a brain region called the diencephalon that differs in size between people who are homosexual or heterosexual.</p>
<p>Genetic studies in mice have uncovered additional gene candidates that could influence sexual preference. A 2010 study <a href="https://doi.org/10.1186/1471-2156-11-62">linked sexual preference to a gene called fucose mutarotase</a>. When the gene was deleted in female mice, they were attracted to female odors and preferred to mount females rather than males. </p>
<p>Other studies have shown that <a href="https://doi.org/10.1038/nature06089">disruption of a gene called <em>TRPC2</em></a> can cause female mice to act like males. <a href="https://doi.org/10.1126/science.1069259">Male mice lacking <em>TRPC2</em></a> no longer display male-male aggression, and they initiate sexual behaviors toward both males and females. Expressed in the brain, <em>TRPC2</em> functions in the recognition of pheromones, chemicals that are released by one member of a species to elicit a response in another.</p>
<p>With multiple gene candidates being linked to homosexuality, it seemed highly unlikely that a single “gay” gene exists. This idea is further supported by <a href="https://doi.org/10.1126/science.aat7693">the new study</a>, which identified five new genetic loci (fixed positions on chromosomes) correlating with same-sex activity: two that appeared in men and women, two only in men, and one only in women.</p>
<h2>How might these genes influence same-sex behavior?</h2>
<p>I find it intriguing that some of the genes from men identified in Ganna’s study are associated with olfactory systems, a finding that has parallels to the work in mice. Ganna’s group found other gene variants that may be linked with sex hormone regulation, which other scientists have previously suggested plays a large role in shaping the brain in ways that influence sexual behavior. </p>
<figure class="align-right ">
<img alt="" src="https://images.theconversation.com/files/290575/original/file-20190902-175691-1l5i9pk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/290575/original/file-20190902-175691-1l5i9pk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=846&fit=crop&dpr=1 600w, https://images.theconversation.com/files/290575/original/file-20190902-175691-1l5i9pk.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=846&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/290575/original/file-20190902-175691-1l5i9pk.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=846&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/290575/original/file-20190902-175691-1l5i9pk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=1063&fit=crop&dpr=1 754w, https://images.theconversation.com/files/290575/original/file-20190902-175691-1l5i9pk.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=1063&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/290575/original/file-20190902-175691-1l5i9pk.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=1063&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">Conditions in the uterus during pregnancy are thought to influence the sexual preferences of the child.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/beautiful-pregnant-woman-shopping-bags-outdoors-503149633?src=-1-18">Anna Om/Shutterstock.com</a></span>
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<p>Males with a genetic condition called <a href="https://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome">androgen insensitivity syndrome</a> can develop female genitalia and are usually brought up as girls, despite being genetically male – with an X and Y chromosome – and they are attracted to men. This suggests that testosterone is needed to “masculinize” a prenatal brain; if that doesn’t happen, the child will grow up to desire men. </p>
<p>Similarly, girls who have a genetic condition called <a href="https://www.nichd.nih.gov/health/topics/cah">congenital adrenal hyperplasia</a> are exposed to unusually high levels of male hormones like testosterone while in the womb, which may masculinize their brain and increase the odds of lesbianism. </p>
<p>It’s also possible that hormonal shifts during pregnancy could affect how a fetus’ brain is configured. In rats, <a href="https://doi.org/10.1210/en.2011-0277">manipulation of hormones during pregnancy</a> produces offspring that exhibit homosexual behavior.</p>
<h2>Why does homosexual behavior exist?</h2>
<p>Several hypotheses have been advanced to explain how homosexuality can be beneficial in perpetuating familial genes. One idea involves the concept of kin selection, whereby people work to ensure the passage of their family’s genes into subsequent generations. Gay uncles and aunts, for example, are “<a href="https://doi.org/10.1177/0956797609359623">helpers in the nest</a>” that help raise other family members’ children to nurture the family tree.</p>
<p>Another idea suggests that homosexuality is a “trade-off trait.” For example, certain genes in women help increase their fertility, but <a href="https://doi.org/10.1111/j.1743-6109.2008.00944.x">if these genes are expressed in a male</a>, they predispose him toward homosexuality.</p>
<p>Sexual behavior is widely diverse and governed by sophisticated mechanisms throughout the animal kingdom. As with other complex behaviors, it is not possible to predict sexuality by gazing into a DNA sequence as if it were a crystal ball. Such behaviors emerge from constellations of hundreds, perhaps thousands, of genes, and how they are regulated by the environment.</p>
<p>While there is no single “gay gene,” there is overwhelming evidence of a biological basis for sexual orientation that is programmed into the brain before birth based on a mix of genetics and prenatal conditions, none of which the fetus chooses.</p>
<p>[ <em>You’re smart and curious about the world. So are The Conversation’s authors and editors.</em> <a href="https://theconversation.com/us/newsletters?utm_source=TCUS&utm_medium=inline-link&utm_campaign=newsletter-text&utm_content=youresmart">You can read us daily by subscribing to our newsletter</a>. ]</p><img src="https://counter.theconversation.com/content/122764/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Bill Sullivan does not work for, consult, own shares in or receive funding from any company or organization that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>A new study of nearly 500,000 individuals finds that many genes affect same-sex behavior, including newly identified candidates that may regulate smell and sex hormones.Bill Sullivan, Professor of Pharmacology & Toxicology, Indiana University School of MedicineLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1044902018-10-24T04:27:46Z2018-10-24T04:27:46ZTweaking just a few genes in wild plants can create new food crops – but let’s get the regulation right<figure><img src="https://images.theconversation.com/files/240008/original/file-20181010-72103-1ee4t5v.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">The tomatoes we eat have been carefully bred over generations, but now we can tap into wild varieties.</span> <span class="attribution"><a class="source" href="https://pixabay.com/en/tomato-agriculture-dirt-organic-2450370/">Pixabay/go_see</a>, <a class="license" href="http://creativecommons.org/licenses/by/4.0/">CC BY</a></span></figcaption></figure><p>The crops we rely on today have been bred over thousands of years to enhance certain characteristics. For example, sweetcorn started life as a wild grass called <a href="http://maize.uga.edu/index.php?loc=ancestors">teosinte</a>.</p>
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<p>But every time we select for a trait through breeding – such as repeatedly crossing selected plants to produce bigger fruits – we lose genetic diversity which is the essential variation for other traits like disease resistance. This leaves our crops vulnerable to pests and disease.</p>
<p>Precise gene editing technologies could offer a solution.</p>
<p>CRISPR gene editing has been successfully used to <a href="https://www.nature.com/articles/nbt.4272">re-domesticate wild tomato plants</a>. One research group edited only six genes and produced a commercially sized fruit in a wild relative of tomato, <a href="http://eol.org/pages/590239/overview"><em>Solanum pimpinellifolium</em></a>. Another group <a href="https://www.nature.com/articles/nbt.4273">achieved a similar result</a> by editing only four genes.</p>
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Read more:
<a href="https://theconversation.com/a-fresh-opportunity-to-get-regulation-and-engagement-right-the-case-of-synthetic-biology-102190">A fresh opportunity to get regulation and engagement right – the case of synthetic biology</a>
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<p>As a society we need to work out how such technology and plants will be regulated to ensure safety and acceptability.</p>
<h2>The new domestication</h2>
<p>The new approach, termed “<em>de novo</em> domestication” or “new domestication”, allows the genetic diversity of the wild plant to feature in a new crop. These new tomato lines retain all of the diversity of their ancestors, providing protection against disease.</p>
<p>They <a href="https://www.nature.com/articles/d41586-018-06915-y">taste good</a> too, apparently.</p>
<p>This was possible thanks to years of painstaking research into the genes that underpin the essential traits related to domestication. Without this, scientists wouldn’t know which genes to target and edit.</p>
<p>Some of the genes were identified by crossing plants with different traits (like large versus small fruits). Others were discovered by comparing wild relatives with domesticated plants.</p>
<h2>Could we do this with other wild species?</h2>
<p>We currently rely on very few plant species for the majority of the world’s food production. More than half of our plant-derived energy intake comes from <a href="http://www.fao.org/3/a-w7324e.pdf">just three grasses</a> (wheat, rice and corn). Gene editing could provide a way to expand this.</p>
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Read more:
<a href="https://theconversation.com/fewer-crops-are-feeding-more-people-worldwide-and-thats-not-good-86105">Fewer crops are feeding more people worldwide – and that's not good</a>
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<p>Showing the broader value of the tomato approach described above, <a href="https://www.nature.com/articles/s41477-018-0259-x">another research group</a> applied the same method to an orphan crop <em>Physalis pruinosa</em> (known as the ground cherry). Orphan crops are those that have been neglected and escaped modern agriculture for various reasons. They receive little investment, research or breeding effort.</p>
<p>The researchers hope the ground cherry will one day find its place alongside the strawberry, blueberry, blackberry and raspberry in large-scale agriculture.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/240007/original/file-20181010-72103-1kvsas3.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/240007/original/file-20181010-72103-1kvsas3.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/240007/original/file-20181010-72103-1kvsas3.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=324&fit=crop&dpr=1 600w, https://images.theconversation.com/files/240007/original/file-20181010-72103-1kvsas3.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=324&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/240007/original/file-20181010-72103-1kvsas3.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=324&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/240007/original/file-20181010-72103-1kvsas3.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=407&fit=crop&dpr=1 754w, https://images.theconversation.com/files/240007/original/file-20181010-72103-1kvsas3.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=407&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/240007/original/file-20181010-72103-1kvsas3.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=407&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
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<span class="caption">Ground cherry could be a new berry crop.</span>
<span class="attribution"><span class="source">Pixabay/Alexas_fotos</span></span>
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<p>The “<em>de novo</em> domestication” approach potentially provides a way to domesticate any edible wild plant. With an estimated <a href="https://pfaf.org/user/edibleuses.aspx">20,000 known edible species</a>, the possibilities for domestication could be extraordinary – particularly in Australia, where broad, economically successful crop domestication of native foods has been mostly limited to the <a href="http://www.abc.net.au/news/2017-07-04/bush-tucker-bible-cataloguing-australias-unique-food-products/8676294">macadamia nut</a>.</p>
<h2>Gene sequencing getting cheaper</h2>
<p>To create new crops, we need good working knowledge of the gene targets, and the genome sequence (which contains the complete code of all genes inside each cell) of the plant species that we want to domesticate.</p>
<p>Genome sequencing used to cost many millions of dollars and require massive research teams. It’s now increasingly cheap and routine. </p>
<p>Our understanding of the target genes comes largely from studies of major agricultural crops. Some domestication genes will only work in species that are closely related to the crop in which they were discovered.</p>
<p>Versions of the domestication genes targeted in the tomato studies are found in many plant species, so the approach might well work in more distantly related species too.</p>
<h2>How should we regulate this?</h2>
<p>We should be fostering this kind of innovation, but we need to do it safely. </p>
<p>Worldwide, policymakers have wrestled with the implications of the new genetic tools. Debate has sprung up around how to regulate genome editing, compared with existing genetic modification methods.</p>
<p>Editing genes in a crop is different to traditional genetic modification, or <a href="https://www.scientificamerican.com/article/transgenics-a-new-breed-of-crops/">transgenics</a> – in which a gene from a different species is inserted into a plant. </p>
<p>In contrast to both of these approaches, classic crop breeding has relied on random processes like irradiation to induce new genetic diversity. CRISPR editing is similar but more efficient and precise, because it targets a specific desired mutation.</p>
<p><iframe id="tc-infographic-229" class="tc-infographic" height="580px" src="https://cdn.theconversation.com/infographics/229/1e1ccd9abbd9a92604e144561050c08a9c49d8b3/site/index.html" width="100%" style="border: none" frameborder="0"></iframe></p>
<p>In July, European courts <a href="https://www.nature.com/articles/d41586-018-05814-6">ruled</a> that edited plants fall under the same regulation as transgenics. This places them under very strict regulations that create significant hurdles to enter the market, potentially driving talent and funding out of Europe.</p>
<p>In contrast, the US Department of Agriculture (USDA) <a href="https://www.usda.gov/media/press-releases/2018/03/28/secretary-perdue-issues-usda-statement-plant-breeding-innovation">said</a> it would not regulate genome-edited crops.</p>
<h2>A balanced approach</h2>
<p>A reasonable balance between these two regulatory approaches is probably the most sensible way forward. Genome editing shouldn’t completely escape regulation. </p>
<p>If it can be demonstrated that the edited plant doesn’t contain any new genes (including CRISPR machinery) then the regulation should be much less stringent than for transgenics, because the changes are so similar to conventional plant breeding. Sequencing the genome of the edited crop is a good way to provide evidence of this.</p>
<p>In Australia, genetically modified organisms are regulated by the Office of the Gene Technology Regulator (<a href="http://www.ogtr.gov.au/">OGTR</a>). The current legislation <a href="http://www.ogtr.gov.au/internet/ogtr/publishing.nsf/Content/newtechnologies-htm">defines genetic modification very broadly</a>, but is <a href="http://www.ogtr.gov.au/internet/ogtr/publishing.nsf/Content/newtechnologies-htm">under review</a>. South Australia is an exception to this, with a <a href="http://www.pir.sa.gov.au/primary_industry/genetically_modified_gm_crops">ban</a> on genetically modified crops.</p>
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Read more:
<a href="https://theconversation.com/organic-farming-with-gene-editing-an-oxymoron-or-a-tool-for-sustainable-agriculture-101585">Organic farming with gene editing: An oxymoron or a tool for sustainable agriculture?</a>
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<p>Ideally, regulation should focus more on questions around the types of genetic modifications that we should allow in our crops than the way that they were introduced and where they came from.</p>
<p>But edited organisms shouldn’t be completely excluded from regulation. Evidence should be requested, and provided, that new crops are functionally equivalent to the products of conventional breeding and the subsequent approval process should reflect this.</p>
<p>The primary priority for policymakers and regulators is to ensure crop safety. Maintaining an open and transparent dialogue will be crucial so that the public can trust the decisions.</p><img src="https://counter.theconversation.com/content/104490/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>James Hereward receives funding from the Cotton Research and Development Corporation (CRDC). The project investigates the evolution of herbicide resistance in weeds.</span></em></p><p class="fine-print"><em><span>Caitlin Curtis is affiliated with the Queensland Genomic Health Alliance and the University of Queensland Genomics in Society Initiative.</span></em></p>Gene editing of wild plants can help us tap into new sources of food. But we need to make sure it’s safe – and that demands some careful regulation.James Hereward, Research fellow, The University of QueenslandCaitlin Curtis, Research fellow, Centre for Policy Futures (Genomics), The University of QueenslandLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/979622018-09-05T11:25:11Z2018-09-05T11:25:11ZAshkenazic Jews’ mysterious origins unravelled by scientists thanks to ancient DNA<figure><img src="https://images.theconversation.com/files/232473/original/file-20180817-165934-yvfrf.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><span class="source">shutterstock</span></span></figcaption></figure><p>Where do the Jewish people come from? This is a question that anthopologists, historians and theologists have studied for millennia.</p>
<p>According to mythology, the Judaeans descended from three patriarchs, Abraham, Isaac, and Jacob, who are buried in the Cave of the Patriarchs (<a href="https://en.wikipedia.org/wiki/Cave_of_the_Patriarchs">Cave of Machpelah</a>) in Hebron – a Palestinian city and <a href="https://www.theguardian.com/world/2017/jul/07/unesco-recognises-hebron-as-palestinian-world-heritage-site">world heritage site</a> located in the southern West Bank, 19 miles south of Jerusalem. </p>
<p>Buried alongside them are said to be Adam and Eve and the four Matriarchs – Sara, Rebecca and Leah. The cave has never been excavated, but on top of it is a relatively modern building (mid first-century), which Herod the Great built – likely to honour his ancestors. </p>
<p>For a more scientific take on the Jewish origin debate, recent DNA analysis of Ashkenazic Jews – a Jewish ethnic group – revealed that their maternal line is <a href="https://www.nature.com/articles/ncomms3543">European</a>. It has also been found that their DNA <a href="https://www.frontiersin.org/articles/10.3389/fgene.2017.00087/full">only has 3% ancient ancestry</a> which links them with the Eastern Mediterranean (also known as the Middle East) – namely Israel, Lebanon, parts of Syria, and western Jordan. This is the part of the world Jewish people are said to have originally come from – according to the Old Testament. But 3% is a minuscule amount, and similar to what modern Europeans as a whole share with Neanderthals. So given that the genetic ancestry link is so low, Ashkenazic Jews’ most recent ancestors must be from elsewhere.</p>
<h2>Not one, but many tribes</h2>
<p>To understand why this is the case, we need to go back in time, to look at where these other ancestors came from. It starts in Persia (modern-day Iran) during the sixth century. This is where <a href="https://www.amazon.co.uk/Invention-Jewish-People-Shlomo-Sand/dp/1844676234">most of the world’s Jews were living</a> at this time. </p>
<p>The tolerance of the Persians encouraged the Jews to adopt Persian names, words, traditions, and religious practices, and climb up the social ladder <a href="https://theconversation.com/uncovering-ancient-ashkenaz-the-birthplace-of-yiddish-speakers-58355">gaining a monopoly on trade</a>. They also <a href="http://gbe.oxfordjournals.org/content/early/2016/03/03/gbe.evw046.full.pdf+html">converted other people</a> who were living along the Black Sea, to their Jewish faith. This helped to <a href="https://books.google.co.uk/books/about/Jewish_Merchant_Adventures.html?id=Ey0JAQAAIAAJ&redir_esc=y">expand their global network</a>.</p>
<p>Among these converts were the Alans (Iranian nomadic pastoral people), Greeks, and Slavs who resided along the southern shores of the Black Sea. Upon conversion, they <a href="https://www.bl.uk/greek-manuscripts/articles/manuscripts-of-the-greek-old-testament">translated the Old Testament into Greek</a>, built synagogues, and continued expanding the Jewish trade network. </p>
<figure class="align-right zoomable">
<a href="https://images.theconversation.com/files/234779/original/file-20180904-45178-16g13rs.png?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/234779/original/file-20180904-45178-16g13rs.png?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/234779/original/file-20180904-45178-16g13rs.png?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=373&fit=crop&dpr=1 600w, https://images.theconversation.com/files/234779/original/file-20180904-45178-16g13rs.png?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=373&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/234779/original/file-20180904-45178-16g13rs.png?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=373&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/234779/original/file-20180904-45178-16g13rs.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=469&fit=crop&dpr=1 754w, https://images.theconversation.com/files/234779/original/file-20180904-45178-16g13rs.png?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=469&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/234779/original/file-20180904-45178-16g13rs.png?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=469&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">DNA of Yiddish speakers could have originated from four ancient villages in northwest Turkey.</span>
<span class="attribution"><span class="license">Author provided</span></span>
</figcaption>
</figure>
<p>These Jews adopted the name Ashkenaz, and the DNA of Ashkenazic Jews can be traced to “<a href="https://theconversation.com/uncovering-ancient-ashkenaz-the-birthplace-of-yiddish-speakers-58355">Ancient Ashkenaz</a>” – an intersection of trade routes in eastern Turkey. </p>
<h2>The rise of the Ashina</h2>
<p>We now know that at the time these Jews adopted the name Ashkenaz, they also acquired unique <a href="https://bmcevolbiol.biomedcentral.com/articles/10.1186/s12862-016-0870-2">Asian mutations</a> on their Y chromosome. This is where another important group of people in our story come into play – and they are called the Gok-Turks. </p>
<p>During the <a href="https://books.google.co.uk/books/about/Turks_and_Khazars.html?id=AOhIAQAAIAAJ&redir_esc=y">sixth century</a>, these nomadic people were ruled by a Siberian Turkic tribe called the Ashina. They were forced by the <a href="https://www.britannica.com/topic/Tang-dynasty">Chinese Tang Empire</a> – who were in power in China at the time – to migrate westwards toward the Black Sea. </p>
<p>Thanks to their organisational and military skills, the Ashina united many tribes in this area – and a new empire called the “Khazar Khaganate” was born. Offering freedom of worship and taxing trade, these people quickly rose to power.</p>
<figure class="align-left zoomable">
<a href="https://images.theconversation.com/files/232474/original/file-20180817-165967-1zpbk7.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/232474/original/file-20180817-165967-1zpbk7.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/232474/original/file-20180817-165967-1zpbk7.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/232474/original/file-20180817-165967-1zpbk7.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/232474/original/file-20180817-165967-1zpbk7.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/232474/original/file-20180817-165967-1zpbk7.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/232474/original/file-20180817-165967-1zpbk7.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/232474/original/file-20180817-165967-1zpbk7.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Orthodox Jews pray at the ancient cemetery of Safed, Israel.</span>
<span class="attribution"><span class="source">Shutterstock</span></span>
</figcaption>
</figure>
<p><a href="https://www.nature.com/articles/ncomms3928">The Asian group of these DNA mutations</a>, found in Ashkenazic Jews, likely originated from <a href="https://www.academia.edu/23316012/Wen_S.-Q._Muratov_B.A._Suyunov_R.R._The_haplogroups_of_the_representatives_from_ancient_Turkic_clans_-_Ashina_and_Ashide_BEHPS_ISSN_2410-1788_Volume_3_2_1_2_March_2016_P.154-157">the Ashina</a> elite and other Khazar clans, who converted from Shamanism to Judaism. This means that the Ashina and core Khazar clans were absorbed by the Ashkenazic Jews.</p>
<p>It was also around this time that the Jewish elite adopted many Slavic customs. And based on my previous research, I would suggest that <a href="https://theconversation.com/uncovering-ancient-ashkenaz-the-birthplace-of-yiddish-speakers-58355">Yiddish was developed as a secret language</a> to assist in trade.</p>
<h2>The next chapter</h2>
<p>What happened next was that the Jewish empire began to collapse. By the tenth century, the Jews on the Black Sea migrated to Ukraine and Italy. Yiddish became the lingua franca of these Ashkenazic Jews and absorbed <a href="https://www.amazon.co.uk/Ashkenazic-Jews-Slavo-Turkic-People-Identity/dp/0893572411">German words while maintaining the Slavic grammar</a>. And as global trade moved to the hands of the Italians, Dutch and English, the Jews were pushed aside.</p>
<p>What this all shows is that by using modern <a href="https://www.smithsonianmag.com/science-nature/ancient-dna-could-unravel-mystery-prehistoric-european-migration-180963702/">genetic</a> <a href="https://www.youtube.com/watch?time_continue=1&v=WSBnr7yuOiI">technology</a> – that enables scientists to <a href="https://www.sciencedaily.com/releases/2018/06/180617204416.htm">track the past</a> of modern-day people – a new appreciation for Jewish ancestry can be discovered. </p>
<p>It has meant a greater understanding of the journeys these people took to arrive in Europe. It has also allowed for increased knowledge as to the significant role the Ashina and the Khazar clans – from which some of the real Jewish patriarchs actually came from – played.</p><img src="https://counter.theconversation.com/content/97962/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Eran Elhaik consults DNA Diagnostics Centre. Eran Elhaik was partially supported by an MRC Confidence in Concept Scheme award 2014-University of Sheffield to E.E. (Ref: MC_PC_14115).</span></em></p>DNA evidence tracks the ancient history of the Jewish people.Eran Elhaik, Lecturer in population, medical and evolutionary genomics, University of SheffieldLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/876822017-12-03T19:18:52Z2017-12-03T19:18:52ZIt’s time to talk about who can access your digital genomic data<figure><img src="https://images.theconversation.com/files/196866/original/file-20171129-28892-1qyenc1.jpg?ixlib=rb-1.1.0&rect=0%2C0%2C3000%2C1944&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">The genome is becoming the unit of currency for all kinds of genetic testing. </span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-illustration/dna-sequence-124450252?src=_36btc90Z5cPO1oQDmWKpg-1-38">from www.shutterstock.com </a></span></figcaption></figure><p>We are approaching a time when you might be too scared to have your genome sequenced. </p>
<p>Only last week, a <a href="https://www.forensicmag.com/news/2017/11/us-senator-calls-ftc-investigate-dna-ancestry-companies">US senator called for an investigation</a> into the privacy policies of direct-to-consumer DNA companies. But this is only one piece of a puzzle that is about to get much more connected.</p>
<p>As with any kind of personal data there are a number of concerns regarding collection, transmission, storage and use. But unlike most other data, your genome reveals intimate information about not only you, but also the people to whom you are related. </p>
<p>It’s time to talk about who can access that data, how, when and why. </p>
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<em>
<strong>
Read more:
<a href="https://theconversation.com/our-healthcare-records-outlive-us-its-time-to-decide-what-happens-to-the-data-once-were-gone-81325">Our healthcare records outlive us – it's time to decide what happens to the data once we're gone</a>
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<h2>The current situation</h2>
<p>Genetic databases are not new. For a while we have had <a href="https://www.acic.gov.au/our-services/biometric-matching/national-criminal-investigation-dna-database">law enforcement DNA databases</a>, <a href="https://www.alrc.gov.au/publications/18-human-genetic-research-databases/what-are-human-genetic-research-databases">medical genetic databases</a>, and <a href="https://www.ancestry.com.au/dna/">ancestry DNA databases</a>, among others. </p>
<p>Historically there has been a natural separation between these databases, because they tend to contain different types of genetic data. Medical genetic databases, for example, have typically screened specific genes, and this data is usually not variable enough to be useful in law enforcement. </p>
<p>Additionally, some databases have been governed by specific rules, such as those that limit <a href="https://www.fbi.gov/services/laboratory/biometric-analysis/codis/codis-and-ndis-fact-sheet">who can be included in law enforcement DNA databases</a>. </p>
<p>This is changing. The unit of genetic “currency” is becoming the same thing: the sequence of the entire human genome.</p>
<h2>The rise of the genomes</h2>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/195408/original/file-20171120-18581-1odzocm.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/195408/original/file-20171120-18581-1odzocm.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=399&fit=crop&dpr=1 600w, https://images.theconversation.com/files/195408/original/file-20171120-18581-1odzocm.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=399&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/195408/original/file-20171120-18581-1odzocm.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=399&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/195408/original/file-20171120-18581-1odzocm.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=502&fit=crop&dpr=1 754w, https://images.theconversation.com/files/195408/original/file-20171120-18581-1odzocm.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=502&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/195408/original/file-20171120-18581-1odzocm.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=502&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Genome sequencing at the Sanger institute.</span>
<span class="attribution"><span class="source">Sanger Institute, Genome Research Limited</span></span>
</figcaption>
</figure>
<p>The rate of genome sequencing is increasing rapidly. Massive genomics projects are set to emerge in the <a href="https://www.england.nhs.uk/healthcare-science/personalisedmedicine/genomics/">United Kingdom</a>, <a href="https://www.utoronto.ca/news/u-t-sequence-genomes-10000-people-year-information-new-oil-say-university-toronto-scientists">Canada</a>, <a href="https://www.fiercebiotech.com/it/france-plans-745m-investment-to-build-235-000-genome-a-year-sequencing-operation">France</a>, and elsewhere. </p>
<p>The <a href="https://allofus.nih.gov/">US National Institutes of Health</a> has launched a <a href="https://ghr.nlm.nih.gov/primer/precisionmedicine/initiative">Precision Medicine Initiative</a> that aims to combine genetic and health data for one million people. China is investing more than <a href="http://www.bioworld.com/content/china-initiative-would-pour-billions-precision-medicine-0">US$9 billion</a> in a <a href="http://www.nature.com/news/china-embraces-precision-medicine-on-a-massive-scale-1.19108">similar initiative</a> – the pilot stage alone includes one million human genomes.</p>
<p>It’s not just governments. Private companies have also set their sights on massive human genome datasets. Craig Venter’s <a href="https://www.humanlongevity.com/">Human Longevity Inc.</a> is planning to sequence <a href="http://www.bio-itworld.com/2017/3/20/human-longevity-launches-whole-genome-product-massmutual-partnerships.aspx">a million genomes by 2020</a> and has <a href="http://www.sciencemag.org/news/2016/04/astrazeneca-partners-its-way-genomic-bounty">partnered with pharmaceutical giant AstraZeneca</a> to work towards this goal. </p>
<p>The marketplace of corporate, <a href="https://www.helix.com">direct-to-consumer genomics</a> companies is also rapidly expanding. Amazon (which claimed 45% of online sales on a record-breaking Black Friday) reported the <a href="https://www.businessinsider.com.au/amazon-top-selling-items-on-black-friday-2017-11?r=US&IR=T">23andMe DNA testing kit as one of its top 5 bestselling items</a>.</p>
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<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/genetic-home-testing-why-its-not-such-a-great-guide-to-your-ancestry-or-disease-risk-79604">Genetic home testing: why it's not such a great guide to your ancestry or disease risk</a>
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<p>It’s impossible to put a precise figure on the number of genomes that have been sequenced to date. Projects like <a href="http://www.genomes2people.org/babyseqproject/">BabySeq</a> in the US point to a future in which genome sequencing may be a routine screen at birth.</p>
<h2>Genome data is not anonymous</h2>
<p>Keeping databases separate and anonymous may seem like a solution but this will be very <a href="http://www.nature.com/news/genetic-privacy-needs-a-more-nuanced-approach-1.12363">difficult to accomplish</a>. It is already possible, at least in some instances, to use information from a complete genome to locate the donor through searches of publicly <a href="https://www.nature.com/news/privacy-protections-the-genome-hacker-1.12940">available ancestry databases</a>.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/195403/original/file-20171120-18574-9husl.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/195403/original/file-20171120-18574-9husl.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/195403/original/file-20171120-18574-9husl.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/195403/original/file-20171120-18574-9husl.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/195403/original/file-20171120-18574-9husl.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/195403/original/file-20171120-18574-9husl.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/195403/original/file-20171120-18574-9husl.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Faceless data?</span>
<span class="attribution"><span class="source">Gerd Altmann (geralt) @ pixabay</span></span>
</figcaption>
</figure>
<p>More recently, a <a href="https://www.nature.com/news/geneticists-pan-paper-that-claims-to-predict-a-person-s-face-from-their-dna-1.22580">controversial</a> study claimed to be able to de-anonymise genomic data using <a href="http://www.frontlinegenomics.com/news/14484/genetic-code-builds-picture-face-dna">facial reconstruction</a>. In reality <a href="https://www.technologyreview.com/s/608813/does-your-genome-predict-your-face-not-quite-yet/">this isn’t possible yet</a> – but the <a href="http://technode.com/2017/11/16/ai-will-change-genomics-forever-and-chinese-companies-know-it/">application of AI</a> will certainly accelerate our understanding of these links. </p>
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<strong>
Read more:
<a href="https://theconversation.com/google-may-get-access-to-genomic-patient-data-heres-why-we-should-be-concerned-80417">Google may get access to genomic patient data – here's why we should be concerned</a>
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<h2>Who wants your data, and why?</h2>
<p>Your genetic data could be useful to three main groups in society. </p>
<p><strong>1. Law enforcement</strong></p>
<p><a href="https://psmag.com/social-justice/law-enforcement-dna-database-police-medical-information">Law enforcement queries to commercial ancestry DNA databases</a> have already begun to blur the lines that have typically kept these databases apart. The controversial process of <a href="https://www.wired.com/2015/10/familial-dna-evidence-turns-innocent-people-into-crime-suspects/">familial searching</a> shows how data may be used from ancestry databases to make inferences about a suspect. In the US, the existence of federally <a href="https://www.thetrace.org/2017/09/new-york-city-gun-crime-dna-database/">unregulated genetic databases</a> may create further complication.</p>
<p>The establishment of mandatory DNA testing seems far-fetched, however that may not be the case everywhere. In 2015, Kuwait passed a <a href="http://news.kuwaittimes.net/website/kuwait-to-enforce-dna-testing-law-on-citizens-expats-visitors-tests-wont-be-used-to-determine-genealogy-affect-freedoms">law mandating DNA collections</a> from all citizens and residents, although this was <a href="https://www.newscientist.com/article/2149830-kuwaits-plans-for-mandatory-dna-database-have-been-cancelled/">revoked</a> earlier this year. </p>
<p>Closer to home, NSW Police Minister Michael Gallacher proposed that mandatory DNA collection from all newborns in Australia was “<a href="http://www.smh.com.au/breaking-news-national/national-dna-database-worth-discussing-20120328-1vyoo.html">something that needs to happen</a>”. Australia is not averse to surveillance of its population, as we have discovered with the <a href="https://www.ag.gov.au/RightsAndProtections/IdentitySecurity/Pages/Face-verification-service.aspx">national facial recognition system</a>. This system goes into effect in 2018, and both <a href="http://thenewdaily.com.au/news/national/2017/11/26/police-facial-recognition/">law enforcement</a> and <a href="https://www.theguardian.com/technology/2017/nov/26/government-could-allow-firms-to-buy-access-to-facial-recognition-data">private companies</a> are pushing for access.</p>
<p><strong>2. Private industry</strong></p>
<p>Commercial DNA test providers can be <a href="http://www.ancestry.com.au/cs/legal/lawenforcement">legally required</a> to hand over customer data <a href="http://www.ajc.com/news/national/can-police-legally-obtain-your-dna-from-23andme-ancestry/8eZ24WN7VisoQiHAFbcmjP/">to law enforcement</a>. The <a href="https://www.gizmodo.com.au/2017/10/what-dna-testing-companies-terrifying-privacy-policies-actually-mean/">privacy policies</a> that consumers agree to make it impossible to know who else will have access to the data.</p>
<p>What is clear is that a digitised genome has monetary value. Genetic data from direct-to-consumer companies has already <a href="https://www.newscientist.com/article/mg23631462-500-dna-testing-firms-are-cashing-in-our-genes-should-we-get-a-cut/">reportedly been sold</a> to <a href="https://www.forbes.com/sites/matthewherper/2015/01/06/surprise-with-60-million-genentech-deal-23andme-has-a-business-plan/#6d0036af2be9">pharmaceutical companies</a>. </p>
<p><strong>3. Insurance companies</strong></p>
<p>Our digital genomes provide information about our predisposition to various medical conditions and this is attractive to insurance companies. The predictive power of the genome is only going to <a href="http://genome.cshlp.org/content/25/10/1432.full">increase over time</a>. Once a consumer has taken a genetic test, they may be required to disclose that fact to an insurer or risk fraud charges. </p>
<p>What’s more, legislation protecting consumers from genetic discrimination is inadequate, and <a href="https://www.gizmodo.com.au/2017/05/are-americas-terrible-genetic-privacy-laws-hurting-science/">may be eroding in the US</a>. <a href="http://www.smh.com.au/national/health/insurers-discriminating-against-people-who-get-genetic-test-results-could-hobble-research-bioethicists-warn-20171102-gzd7vu.html">Access to insurance</a> is already being impacted in Australia.</p>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/australians-can-be-denied-life-insurance-based-on-genetic-test-results-and-there-is-little-protection-81335">Australians can be denied life insurance based on genetic test results, and there is little protection</a>
</strong>
</em>
</p>
<hr>
<h2>Let’s talk about the future</h2>
<p>Australia just created its first <a href="http://www.coaghealthcouncil.gov.au/Portals/0/Genomics%20Framework%20WEB_1.PDF">National Health Genomics Policy Framework</a>, for 2018-20, and this begins to create guidelines for genomic data. This policy is geared towards medical research, however, so would not apply to consumer DNA services, and does not make provisions for law enforcement access requests.</p>
<p><a href="https://blockgeeks.com/guides/what-is-blockchain-technology/">Blockchain</a> and <a href="http://med.stanford.edu/news/all-news/2017/08/genome-analysis-with-near-complete-privacy-possible.html">“genome cloaking” cryptography approaches</a> are being explored as a way to <a href="https://www.forbes.com/sites/patricklin/2017/05/08/blockchain-the-missing-link-between-genomics-and-privacy/#1e92b4144b77">give people control over their genomic data</a> and who can access it. <a href="https://zenome.io/">A new company</a> claims to offer a commercial, decentralised, blockchain system based on buying genetic services and selling access to genetic information. </p>
<p>Perhaps these approaches are part of the technological solution. But the central issue is this: should we own our genetic data, and should we as individuals be able to decide who can access it? </p>
<p>What is absolutely clear is that the future of genomic databases is almost here, and now is the time to figure out how we are going to allow this information to be used.</p><img src="https://counter.theconversation.com/content/87682/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>The authors do not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and have disclosed no relevant affiliations beyond their academic appointment.</span></em></p>Do you own your own genetic data? The future of genomic databases is almost here, and now is the time to figure out how we are going to allow this information to be used.Caitlin Curtis, Honorary Research Fellow, The University of QueenslandJames Hereward, PostDoc Ecological and Evolutionary Genetics, The University of QueenslandLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/688212016-11-24T00:12:23Z2016-11-24T00:12:23ZNow we can edit life itself, we need to ask how we should use such technology<figure><img src="https://images.theconversation.com/files/147119/original/image-20161123-19717-13z8412.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Taking the deadly bit out of mosquitoes.</span> <span class="attribution"><a class="source" href="https://www.flickr.com/photos/braerik/24483881083/">Flickr/Erik F Brandsborg</a>, <a class="license" href="http://creativecommons.org/licenses/by-sa/4.0/">CC BY-SA</a></span></figcaption></figure><p>Imagine a world where mosquitoes no longer pass on the deadly malaria parasite, where invasive species such as cane toads are wiped out from Australia, and agri-chemical resistant pests revert back to their original susceptible state.</p>
<p>Scientists are currently energised about such prospects, thanks to advances in what’s known as <a href="https://theconversation.com/explainer-what-is-a-gene-drive-and-how-could-it-wipe-out-malaria-51171">gene drive technology</a>.</p>
<p>While the concept of gene drives has been around since the 1960s, it is new developments in gene editing technology, supported by lab-confined proof-of-concept experiments in <a href="https://www.sciencenews.org/article/gene-drives-spread-their-wings">flies</a> and <a href="https://www.wired.com/2015/11/gene-drives-explaining-technology-behind-malaria-free-mosquitos/">mosquitos</a> that has sparked their imagination.</p>
<p>The Australian Academy of Science is running a <a href="https://www.surveymonkey.com/r/AASGeneDrives">public consultation process on gene drives.</a> It’s time for society, regulators and various tiers of governments to also start thinking about the application and hazards of the technology.</p>
<h2>We need to talk</h2>
<p>The revolutionary gene editing technology known as CRISPR/Cas9 can be used for many different purposes. </p>
<p>For instance, it was in the <a href="http://www.abc.net.au/news/2016-11-16/crispr-gene-editing-tested-in-a-person-for-the-first-time/8029582">news recently</a> because it is being used to edit the genome of a living human in an effort to fight cancer.</p>
<p>Gene drives take gene-editing technology down a distinctly different path where whole populations of organisms have their genomes edited. </p>
<p>Self-propagating genetic elements can be designed to target specific genes in the population and either disrupt them or replace them with transgenes, which are genes taken from other creatures. </p>
<p>At its essence, a gene drive distorts the standard segregation law of Mendelian inheritance. Consider a typical gene in a male mouse, say a gene determining coat colour. Under Mendelian inheritance, that mouse would have inherited a version (or allele) of the gene from its mother and a version from its father. </p>
<p>A sperm cell produced by that mouse will only carry one of those two versions, and the probability that it derived from its father is equal to the probability that it derived from its mother.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/147270/original/image-20161123-19682-l1bcjw.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/147270/original/image-20161123-19682-l1bcjw.png?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=456&fit=crop&dpr=1 600w, https://images.theconversation.com/files/147270/original/image-20161123-19682-l1bcjw.png?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=456&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/147270/original/image-20161123-19682-l1bcjw.png?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=456&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/147270/original/image-20161123-19682-l1bcjw.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=574&fit=crop&dpr=1 754w, https://images.theconversation.com/files/147270/original/image-20161123-19682-l1bcjw.png?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=574&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/147270/original/image-20161123-19682-l1bcjw.png?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=574&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
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<span class="attribution"><span class="source">The Conversation</span>, <a class="license" href="http://creativecommons.org/licenses/by-nd/4.0/">CC BY-ND</a></span>
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</figure>
<p>If this gene were not a typical gene, but instead it had a version that increased the odds of its own inheritance above 50%, it would have the potential to spread – or “drive” – through the population.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/147271/original/image-20161123-19692-6pa5rz.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/147271/original/image-20161123-19692-6pa5rz.png?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=456&fit=crop&dpr=1 600w, https://images.theconversation.com/files/147271/original/image-20161123-19692-6pa5rz.png?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=456&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/147271/original/image-20161123-19692-6pa5rz.png?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=456&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/147271/original/image-20161123-19692-6pa5rz.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=574&fit=crop&dpr=1 754w, https://images.theconversation.com/files/147271/original/image-20161123-19692-6pa5rz.png?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=574&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/147271/original/image-20161123-19692-6pa5rz.png?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=574&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption"></span>
<span class="attribution"><span class="source">The Conversation</span>, <a class="license" href="http://creativecommons.org/licenses/by-nd/4.0/">CC BY-ND</a></span>
</figcaption>
</figure>
<p>Natural gene drives do occur and approaches to exploit them for population control have long been discussed, and even <a href="http://www.eliminatedengue.com/our-research/wolbachia">employed</a>.</p>
<p>But the CRISPR/Cas9 technology is game-changing because it enables a scientist to design a synthetic gene drive that targets a specific character in an organism of choice. </p>
<h2>Size matters</h2>
<p>The organism needs to be one that reproduces sexually, is amenable to transgenic manipulation and has a short generation time (determined by the age of reproduction). </p>
<p>This latter criteria means that gene drives are not suitable to humans (or, indeed, elephants) because their generation time is too long. </p>
<p>But scientists have proposed various types of synthetic gene drives. Some aim to suppress a population, whereas others would alter a population with a new character (such as the inability of a mosquito to carry human pathogens).</p>
<p>An example of a suppression strategy would be to drive a gene through a population that results in an overabundance of one sex. If mothers carrying the element only give birth to sons, then the population will decrease as the gene drive increases in relative frequency. </p>
<p>Such a strategy is being suggested to <a href="https://www.scientificamerican.com/article/harnessing-the-power-of-gene-drives-to-save-wildlife/">rid islands of feral rodents</a> that are endangering rare native species. </p>
<p>Gene drives may also replace more conventional insect population control strategies, such as the <a href="http://www-naweb.iaea.org/nafa/ipc/sterile-insect-technique.html">Sterile Insect Technique</a>, which is used to control <a href="http://www.ansto.gov.au/ResearchHub/LifeSciences/LifeSciencesCapabilities/RadiationTechnologynew/SterileInsectTechnique/index.htm">fruit flies in Australia</a> and <a href="https://www.iaea.org/newscenter/news/world-malaria-day-how-nuclear-technique-could-provide-future-method-mosquito-control">mosquitos around the world</a>.</p>
<p>Gene drive strategies will not require that insects are continually bred and released from factory scale insectaries in an attempt to inundate pest populations. </p>
<p>The synthetic gene drives spread themselves, potentially doubling every generation, so that only relatively small numbers of gene-drive bearing insects would need be to released to inoculate a pest population. </p>
<h2>What to target?</h2>
<p>The exact design and nature of the gene drive will depend on the specific organism and problem, and there could be many options.</p>
<p>For example, would it be better to have a gene drive targeting female fertility or male fertility? Would it be better to make cane toads sterile or to alter them so they do not produce toxins? </p>
<p>In the latter case, the toad population would be suppressed indirectly because predators would find them more palatable.</p>
<p>Or myxomatosis resistance alleles that have arisen in Australian rabbits could be targeted so that that this control agent becomes more effective again.</p>
<p>Similarly, we could reverse the evolution of pest weeds or insects that have become resistant to agri-chemicals by making them susceptible again. </p>
<h2>The hazards</h2>
<p>There are, of course, many hazards with gene drives. For example, a gene drive introduced into a pest species could spread back to that animal’s native territory, where it is not a pest but valued as an important part of the ecosystem. </p>
<p>Imagine if New Zealanders decided to release a gene drive against brush tailed possums, considered an <a href="http://www.doc.govt.nz/nature/pests-and-threats/animal-pests/animal-pests-a-z/possums/">introduced pest</a> in that country, and it jumped the Tasman sea. How would such drives be contained to regions or international boundaries? </p>
<p>Will there be trade implications with countries that have differing legislation around the technology? And how do we best assess the ecological costs of a gene drive before it is released? </p>
<p>There is also the ethical question of whether the deliberate elimination of an entire species, even a disease-bearing mosquito, is conscionable given the ravages humans have already made on biodiversity. More significantly: who gets to make such decisions?</p>
<p>Generations of Australian research has aimed to protect Australia’s unique ecosystems and agriculture from unwanted pests.</p>
<p>Perhaps the <a href="https://www.scientificamerican.com/article/harnessing-the-power-of-gene-drives-to-save-wildlife/">targeting of invasive species</a> is where gene drives would be best applied. While much of these earlier control strategies have been successful, there are notable ones, like the introduction of cane toads that have worsened rather than improved the situation.</p>
<p>But much can be learnt from the successes and failures of past biological control efforts, and gene drive technologies have enormous potential to protect and preserve biodiversity. </p>
<p>For these reasons, and for the reasons of disease control, the gene drive route is worth mapping out to determine whether there is a way to <a href="http://www.sculptingevolution.org/genedrives/safeguards">navigate the potential hazards</a>.</p>
<p>That’s why it’s important people get chance to <a href="https://www.surveymonkey.com/r/AASGeneDrives">read and comment</a> on the Australian Academy of Science’s <a href="https://www.science.org.au/support/analysis/sector-consultation/gene-drives-australia">discussion paper on gene drives</a>. All feedback must be in by Sunday November 27, 2016.</p><img src="https://counter.theconversation.com/content/68821/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Charles Robin is a member of the Expert Working Group on Gene Drive Issues established by the Australian Academy of Sciences.</span></em></p>It’s possible to alter the make-up of a species such as a mosquito’s ability to pass on the deadly malaria parasite. But we need to consider the pros and cons of such gene editing technology.Charles Robin, Senior Lecturer, School of BioSciences, The University of MelbourneLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/673562016-11-04T17:59:07Z2016-11-04T17:59:07ZUnderstanding the genes that make our circadian clocks tick<figure><img src="https://images.theconversation.com/files/144483/original/image-20161103-25346-xnq2es.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Time to get up.</span> <span class="attribution"><a class="source" href="http://www.shutterstock.com/downloading_tips.mhtml?code=&id=334996769&size=huge&image_format=jpg&method=download&super_url=http%3A%2F%2Fdownload.shutterstock.com%2Fgatekeeper%2FW3siZSI6MTQ3ODIzMjI0NCwiYyI6Il9waG90b19zZXNzaW9uX2lkIiwiZGMiOiJpZGxfMzM0OTk2NzY5IiwiayI6InBob3RvLzMzNDk5Njc2OS9odWdlLmpwZyIsIm0iOiIxIiwiZCI6InNodXR0ZXJzdG9jay1tZWRpYSJ9LCJEdmQwYVFyemY1QXh1ZFdFUHhvcW8xczVRbGMiXQ%2Fshutterstock_334996769.jpg&racksite_id=ny&chosen_subscription=redownload_standard&license=standard&src=hOPPO2lXTzgMNTmHceZr-A-1-47">alarm clock image via www.shutterstock.com</a></span></figcaption></figure><p>Have you ever wondered why you don’t feel tired until late at night but your spouse is fast asleep at 10 p.m. and wakes spontaneously at 6 a.m.? </p>
<p>We each have an internal biological clock, called a circadian clock, that organizes the internal and external activities of our body around the 24-hour day. </p>
<p>While these clocks can be influenced by exposure to sunlight and electric light, for instance, our genes also play a role in how they function. That’s part of the reason that sleep and wake habits can vary from individual to individual. And that may also explain why certain chronotherapies, which help change the timing of the circadian clock, such as light boxes and taking the natural hormone melatonin as a supplement, vary in dose and effectiveness from person to person. </p>
<p>Circadian clocks are found in individual cells of our body. My <a href="http://www.ndbiology.com/duffield-lab/">research team</a> at the University of Notre Dame is teasing apart the molecular mechanisms of these cellular clocks, looking at how genes and the proteins they produce control the multitude of 24-hour rhythms in our bodily functions. </p>
<p>We think that an improved understanding of the circadian system, from genes through to physiology and behavior, will allow for the development of new and improved chronotherapies. </p>
<h2>How do circadian clocks work?</h2>
<p>At <a href="http://hmg.oxfordjournals.org/content/15/suppl_2/R271.full">least 15 genes</a> are thought to make up the cogs of the circadian clock mechanism. Natural genetic variations in these components can result in profound differences in circadian clocks from person to person. This is why some people have a short circadian clock cycle length or a long cycle length, and why some people are early birds and others are night owls.</p>
<p>Some of these genes and the proteins they produce form a series of interacting molecular pathways that then loop back on one another. The temporal pattern of genes being switched on and off starts afresh once every 24 hours, giving us a near perfect daily clock.</p>
<p>Circadian clocks do more than tell us when to feel sleepy and when to wake up. They are found in almost all organ systems of our body, such as in the brain, heart and liver. The clocks then modify cellular processes across the day that are specific to each tissue. When these organ systems are not in sync with one another, which can occur during shift work and jet lag, it can contribute to health problems. </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/144484/original/image-20161103-25353-4eagxh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/144484/original/image-20161103-25353-4eagxh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=384&fit=crop&dpr=1 600w, https://images.theconversation.com/files/144484/original/image-20161103-25353-4eagxh.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=384&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/144484/original/image-20161103-25353-4eagxh.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=384&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/144484/original/image-20161103-25353-4eagxh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=482&fit=crop&dpr=1 754w, https://images.theconversation.com/files/144484/original/image-20161103-25353-4eagxh.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=482&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/144484/original/image-20161103-25353-4eagxh.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=482&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Out of sync.</span>
<span class="attribution"><a class="source" href="http://www.shutterstock.com/pic-204951673/stock-photo-world-business-or-travel-concept.html?src=7efDO7sBpmaEfxs6v3GFXA-1-1">Clocks image via www.shutterstock.com.</a></span>
</figcaption>
</figure>
<h2>Coordinating the internal clocks is key</h2>
<p>The clock in the liver, for example, controls many of the biological
processes involved in the storage and release of energy molecules. The circadian rhythms in these cells are in tune with other organ systems in the body, such as fat cells and the brain.</p>
<p>Much of the function of the liver is given over to storing food molecules when they are in abundance, such as when we have just eaten a meal. The liver then mobilizes nutrients when we are fasting while we sleep.</p>
<p>If you eat in the middle of night, for example, that can throw off the body’s processes for storing these nutrients appropriately. Shift work and jet lag can result in metabolic problems because the timing of processes between organ systems is no longer correctly coordinated, and timing between those systems and the external environment is disrupted. The long-term ramifications of such poor coordination between our internal clocks and the external environment can result in the development of abnormal physiology, and ultimately disorders such as obesity and diabetes. </p>
<p>In fact, the incidence of cardiovascular and metabolic disease, obesity and diabetes is <a href="http://dx.doi.org/10.1186/s13098-015-0041-4">elevated in shift workers</a>, who account for about <a href="http://www.bls.gov/news.release/flex.nr0.htm">15 percent of the work force</a>. </p>
<p>Getting all of these processes on the same temporal track and in sync with the time zone you are functioning in is the key. So looking at the genes that play a role in how these clocks work can help us understand how they stay in sync. </p>
<p>Gaining a better sense of what genes are involved in regulating these circadian clocks could put us on a path to find better treatments and therapies to help people adjust to time shifts.</p>
<h2>Uncoupling the genetic brakes of the circadian clock</h2>
<p>Our lab in collaboration with the University of Oxford and Hoffmann-La Roche has identified a new biological pathway involved in resetting the circadian clock, which <a href="http://dx.doi.org/10.1016/j.cell.2013.08.004">was published in the journal Cell</a>. </p>
<p>We have found that preventing a gene called SIK1 from being expressed or inactivating the protein it produces can ease the effects of jet lag. </p>
<p>This is a remarkable finding because it reveals a new biological pathway that controls the clock resetting mechanism and because the protein that SIK1 expresses is a kinase enzyme. Protein kinases form one of the most common classes of drug targets, which makes the SIK1 protein an attractive target for pharmacological manipulation.</p>
<p>Our lab has also revealed a unique role for a gene called ID2 in regulating how <a href="http://dx.doi.org/10.1016/j.cub.2008.12.052">light resets the circadian clock</a> and how the clock can control downstream processes, including shaping the 24 hour rhythms of <a href="http://www.jbc.org/content/284/46/31735.long">fat and sugar metabolism</a> </p>
<p>In animals we have found that the absence of <a href="http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0073064">ID2 disrupts the normal cycle of feeding</a>, and makes the animals both <a href="https://www.hindawi.com/journals/jdr/2016/6785948/">lean</a> and <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4262528/">super-sensitized to insulin</a>. This suggests that ID2 could be an important therapeutic target for resetting circadian clocks as well as controlling metabolic disorders, such as obesity and diabetes. </p>
<p>Animals that are missing the ID2 gene are also highly responsive to resetting of the clock by light. Instead of taking a week to adjust to a new time zone, they adapt in one to two days. Both ID2 and SIK1 appear to function as natural brakes on the resetting mechanism of the clock, and in principle could one day be drug targets for adjusting our biological rhythms.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/144485/original/image-20161103-25349-pow0th.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/144485/original/image-20161103-25349-pow0th.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/144485/original/image-20161103-25349-pow0th.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/144485/original/image-20161103-25349-pow0th.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/144485/original/image-20161103-25349-pow0th.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/144485/original/image-20161103-25349-pow0th.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/144485/original/image-20161103-25349-pow0th.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Bright light at night can shift our clocks in the wrong direction.</span>
<span class="attribution"><a class="source" href="http://www.shutterstock.com/pic-391673578.html">Exhausted woman image via www.shutterstock.com.</a></span>
</figcaption>
</figure>
<h2>Bright light in the morning, and dark at night</h2>
<p>While this research is promising, treatments using this research are probably still some time off. </p>
<p>In the meantime, there are a few things you can do to help keep your internal clocks in sync and on track, and adjust to disruptions more quickly. Chronotherapies, like timed exposure to light and taking melatonin supplements, can help change the timing of the circadian clock. These methods can prevent or reduce the problems that jet lag or shift work can cause, and assist in the treatment of seasonal affective disorder.</p>
<p>Because the light of dawn resets our body clock and keeps us in sync with the outside world, getting a good dose of morning light is critical.</p>
<p>Waking in pitch darkness and driving to work in the dark does not help. Just because it says 7 a.m. on the alarm clock does not mean it is 7 a.m. in your body. Exposure to <a href="https://theconversation.com/a-dark-night-is-good-for-your-health-39161">bright light at night</a>, including that emitted from electronic gadgets, can shift your biological clock in the wrong direction, making it even harder to get up the next day. Some of us are fighting our physiology every day. </p>
<p>Keeping yourself on a fixed routine of going to sleep at the same time can also be beneficial.</p><img src="https://counter.theconversation.com/content/67356/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Giles E. Duffield receives funding from the National Institutes of Health and has received funding from the American Heart Association. </span></em></p>Gaining a better sense of what genes are involved in regulating circadian clocks could put us on a path to find better treatments and therapies to help people adjust to time shifts.Giles E. Duffield, Associate Professor in Biological Sciences, University of Notre DameLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/636772016-08-09T10:45:01Z2016-08-09T10:45:01ZHow the snake got its extra-long body<figure><img src="https://images.theconversation.com/files/133517/original/image-20160809-9267-l8o2bb.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><span class="source">Shutterstock</span></span></figcaption></figure><p>The fairground freakshows of the past are a testament to our fascination with unusual animals. Given the similarities between most furry, four-legged mammals, it’s not surprising that we often look at the more weird and wonderful members of the animal kingdom and ask questions like “Why does a spider have so many legs?” or “Why are snakes so long?”. </p>
<p>The answers can usually be found in evolution and genetics. More specifically, we need to study how animals have evolved so that the shape and layout of their bodies are formed as they grow from embryos (part of evolutionary developmental biology or “<a href="http://evolution.berkeley.edu/evolibrary/article/evodevo_01">evo-devo</a>”). If we want to know why a snake is so long, we need to start looking at snake embryos.</p>
<p>One group of researchers from the Instituto Gulbenkian de Ciência in Portugal has done just that. <a href="http://www.sciencedirect.com/science/article/pii/S1534580716304245">They found</a> that one gene in particular plays a key role in shaping the snake’s extra-long body. The researchers were able to prove this by turning on the same gene in mice to produce animals with much longer than normal bodies.</p>
<p>There are basically two ways a vertebrate animal can evolve a long body: by increasing the size of vertebrae (as in a <a href="http://www.wired.co.uk/article/why-do-giraffes-have-long-necks">giraffe’s neck</a>) or increasing the number of vertebrae (as in a <a href="http://dev.biologists.org/content/121/2/333.long">goose’s neck</a>). This increase can take place in the neck, the trunk or the tail.</p>
<p>In the case of snakes, their extreme length is a product of a longer trunk, as shown by the large number of vertebrae possessing ribs. These continue to grow far beyond what is typical for other reptile embryos thanks to the <a href="http://www.nature.com/nature/journal/v454/n7202/full/454282a.html">faster vertebrae formation</a> during development, and <a href="http://www.sciencedirect.com/science/article/pii/S0012160609002784">their unusual</a> “Hox” genes, which determine <a href="http://www.nature.com/scitable/topicpage/hox-genes-in-development-the-hox-code-41402">which type of vertebrae</a> develop.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/133518/original/image-20160809-18014-1okrrs2.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/133518/original/image-20160809-18014-1okrrs2.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=376&fit=crop&dpr=1 600w, https://images.theconversation.com/files/133518/original/image-20160809-18014-1okrrs2.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=376&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/133518/original/image-20160809-18014-1okrrs2.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=376&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/133518/original/image-20160809-18014-1okrrs2.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=472&fit=crop&dpr=1 754w, https://images.theconversation.com/files/133518/original/image-20160809-18014-1okrrs2.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=472&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/133518/original/image-20160809-18014-1okrrs2.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=472&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Snakes and mice: closer than you might think.</span>
<span class="attribution"><span class="source">Shutterstock</span></span>
</figcaption>
</figure>
<p>The researchers <a href="http://bit.ly/2bb7saU">already knew</a> that mice with mutations in a gene called Gdf11 have longer trunks, as well as an unusual mass of cells in their tails. These cells express a variety of genes including those involved in the separation of the trunk and the tail as the embryo forms. This suggests these mutants’ bodies had a problem in deciding when to stop making trunk vertebrae and when to start making a tail. The researchers thought that these Gdf11 mutants could potentially offer insights into the processes underlying body elongation in snakes.</p>
<p>The mutated Gdf11 is similar to another gene found in snakes and mice known as Oct4. Individual genes rarely work alone and are usually part of a wider <a href="http://www.pnas.org/content/102/14/4935.full">network of genes</a> that work together to send and receive signals within and between cells, turning other genes on and off. In this way, a single mutation can have a large effect on an organism because it can impact a number of other genes and processes downstream. </p>
<h2>Extra-long mice</h2>
<p>The researchers thought that a change in the way Oct4 was turned on and off was responsible for the evolution of the snake’s long body, causing embryos to make more trunk vertebrae. To test this theory, they manipulated the Oct4 gene in mice embryos and found that the animals did indeed grow more trunk vertebrae. They also found that the development of a longer trunk also affected the growth of the animals’ limbs, suggesting a trade off between the body parts.</p>
<p>The next step was to use available genome sequences of the king cobra (<em>Ophiophagus hannah</em>) and Burmese python (<em>Python molurus</em>) to try to identify the other pieces of snake DNA associated with vertebrae growth. This was difficult because there were gaps in the genome and problems identifying which bits of DNA were associated with which genes. But the researchers were able to catch tantalising glimpses of regions of DNA that were the same between mice and snakes and that may be involved in regulating the Oct4 gene. This included some DNA that seemed to have been rearranged in snakes, possibly affecting their activity.</p>
<p>Although we’re still searching for the exact DNA-level changes underlying these processes, this study helps fill in an important piece of the puzzle of how the snake developed such a long body. Even more excitingly, the researchers think understanding how Oct4 and its associated genes work may prove vital to explaining how certain reptiles are able to regenerate their tails.</p><img src="https://counter.theconversation.com/content/63677/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>John Mulley does not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>Scientists have uncovered the genetics that explain the snake’s impressive length – and used the science to create extra-long mice.John Mulley, Lecturer in Biological Sciences, Bangor UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/511712015-11-26T14:01:09Z2015-11-26T14:01:09ZExplainer: what is a gene drive and how could it wipe out malaria?<figure><img src="https://images.theconversation.com/files/103345/original/image-20151126-28268-14pvpdi.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><span class="source">Shutterstock</span></span></figcaption></figure><p>Our understanding of the natural world is now so great we can manipulate the DNA blueprints for any living thing on Earth. We can replace genes for traits we don’t like with others we prefer and even add genes that don’t occur naturally in an organism. Over the last few years, scientists have developed several methods for editing genes in this way and excitement over one in particular, the CRISPR-Cas9 system, has reached fever pitch. </p>
<p>We have also developed a way to introduce these gene changes to an entire population of a species. This “gene drive” process has most recently <a href="http://www.bbc.co.uk/news/health-34898931">been used</a> to alter the DNA of small groups of mosquitoes so that they no longer carry the malaria parasite, raising the possibility of eliminating the disease altogether. But meddling with nature in this way carries huge implications that need careful consideration.</p>
<h2>Gene editing</h2>
<p>Gene-editing techniques involving cutting genes at specific sites in the DNA of an embryo in order to disrupt those genes’ function or insert other genes. For instance, <a href="https://theconversation.com/explainer-crispr-technology-brings-precise-genetic-editing-and-raises-ethical-questions-39219">the CRISPR-Cas9 system</a> uses enzymes that can cut specific gene sequences from DNA, guided by a similar molecule known as RNA. Natural gene repair mechanisms then kick in and can be used to disrupt the function of the original gene or replace it with a completely different one.</p>
<p>CRISPR systems actually aren’t new – they have existed in nature for millions of years. Bacteria use them to fend off viral infections by adding part of the virus’s DNA to their own. So why all the fuss? CRISPR-Cas9 makes artifical gene-editing much easier and cheaper, enabling scientist to target specific bits of DNA. By comparison, another method known as TALENS requires the construction of complex proteins. As a result, CRISPR gene-editing is heralding advances in biomedicine such as <a href="http://www.statnews.com/2015/11/05/doctors-report-first-use-gene-editing-technology-patient/">cancer treatments</a> and protecting individuals <a href="http://www.independent.co.uk/news/science/crispr-breakthrough-announced-in-technique-of-editing-dna-to-fight-off-deadly-illnesses-10420050.html">from infections</a></p>
<p>But there are other ways gene-editing has the potential to help in the fight against infectious diseases. <a href="http://www.nature.com/news/gene-drive-mosquitoes-engineered-to-fight-malaria-1.18858">Very recently</a>, CRISPR methods have been used to make mosquitoes resistant to malaria infections and coupled with a “chain reaction” to drive this gene modification (the resistance to malaria parasite) through the population.</p>
<h2>Gene drive</h2>
<p>This process is referred to as a “gene drive”, and again is not new: nature spreads evolutionary changes through a population all the time. It doesn’t mean changing the DNA of all living individuals in a population. Instead it’s about ensuring a specific genotype (a certain version of a gene) is passed on to the descendants of modified individuals.</p>
<p>A sexually reproducing organism usually has a 50% chance of inheriting a specific genotype from one of its parents. Using a gene drive can bias the inheritance pattern to increase that chance to nearly 100%, ensuring almost all descendants possess the genotype. As those descendants mate and produce their own offspring, the proportion of organisms with the genotype increases until it can be found in the entire population.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/103346/original/image-20151126-28284-7ks03l.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/103346/original/image-20151126-28284-7ks03l.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/103346/original/image-20151126-28284-7ks03l.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/103346/original/image-20151126-28284-7ks03l.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/103346/original/image-20151126-28284-7ks03l.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/103346/original/image-20151126-28284-7ks03l.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/103346/original/image-20151126-28284-7ks03l.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Gene warfare on malaria.</span>
<span class="attribution"><span class="source">Shutterstock</span></span>
</figcaption>
</figure>
<p>The idea that you can “replace” a population’s genotype is particularly appealing when that population is responsible for spreading disease, as mosquitoes are with malaria. Malaria is preventable and curable but still kills over <a href="http://www.who.int/mediacentre/factsheets/fs094/en/">400,000 people each year</a>.</p>
<p>The potential for using a gene drive to engineer insects (particularly mosquitoes) was discovered <a href="http://www.nature.com/nature/journal/v218/n5139/abs/218368a0.html">in the 1960s</a>. But the advent of CRISPR’s cheap and easy gene-editing puts this research onto a whole new footing. Researchers at the University of California, Irvine, <a href="http://www.pnas.org/content/early/2015/11/18/1521077112.abstract">recently published</a> a proof-of-princple study demonstrating the techniques can alter a population of the main type of mosquito that carries malaria in urban India, <em>Anopheles stephensi</em>.</p>
<h2>Putting into practice</h2>
<p>The longer term aim, in this instance, might be to release a persistent, modified mosquito into the environment to assist in the control a public health problem. This would be an area-wide release programme to compliment existing control interventions that would require case-by-case assessment of all the cost and benefits. For example, mathematical modelling would be needed to work out how many modified mosquitoes to release, how long it would take for the mosquito population to be clearly affected and how long it would take to impact public health.</p>
<p>One obstacle to the practical use of gene-drives is the need for relevant regulations, or at least the application of existing laws on genetic modifications. Gene-drive technologies are still some way off from the necessary environmental risk assessments for field trials and releases that would sufficiently scrutinise the risks to the environment and/or human health. These sorts of CRISPR-based modifications might even need a whole new set of regulatory structures that require a fuller debate about novel biotechnological advances.</p>
<p>Rapidly targeting genome modifications has the power to advance many aspects of basic and translational biomedical sciences. The potential benefits to reducing the impact of infectious disease and genetic disorders, including cancers, and improving the way the immune system works are huge. But the technology isn’t without pitfalls.</p>
<p>CRISPR systems rely on a guide molecule to make sure the DNA sequence is cut in exactly the right place. Getting this wrong will probably cause damage to non-target genes that could harm the organism. And just because we can edit the DNA within a species doesn’t mean we should. We need strong leadership at all levels – ethical, scientific, political – and appropriate regulations to ensure these new technologies can prosper without unintended consequences.</p><img src="https://counter.theconversation.com/content/51171/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Michael Bonsall receives funding from BBSRC. </span></em></p>New genetic technology could change the DNA of entire species to prevent them from spreading diseases.Michael Bonsall, Professor of Mathematical Biology, University of OxfordLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/500762015-11-19T19:05:48Z2015-11-19T19:05:48ZDo you share more genes with your mother or your father?<figure><img src="https://images.theconversation.com/files/102448/original/image-20151119-19367-w73ku0.jpg?ixlib=rb-1.1.0&rect=0%2C0%2C5279%2C3077&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">To whom is she more closely related?</span> <span class="attribution"><span class="source">Shutterstock</span></span></figcaption></figure><p>Many of your relatives probably have an answer to the question of whether you are more your mother or your father’s child. But the correct answer to the question is not as simple as it might seem.</p>
<p>Genetically, you actually carry more of your mother’s genes than your father’s. That’s because of little organelles that live within your cells, the <a href="http://www.nature.com/scitable/topicpage/mitochondria-14053590">mitochondria</a>, which you only receive from your mother.</p>
<p>Mitochondria are the energy-producing factories of the cell; without them, a cell would not be able to generate energy from food.</p>
<p>Mitochondria have an interesting history, as about 1.5-billion to 2-billion years ago they were free-living organisms. The ancestor of all mitochondria was a bacterium that was engulfed by another bacterium, but for one reason or another not digested, giving rise to the eukaryotes. The eukaryotes are basically all plants, animals and fungi, plus some rather weird organisms grouped together under <a href="http://www.encyclopedia.com/topic/Protista.aspx">Protista</a>.</p>
<p>Because of their evolutionary history as free-living bacteria, mitochondria have retained their own genome, called mitochondrial DNA, or mtDNA. Each cell contains many copies of mtDNA, as mitochondria freely replicate within the cell.</p>
<h2>The mother effect</h2>
<p>Tissues that require a lot of energy, such as your brain and your muscles, have cells packed with mitochondria. Because all mitochondria you received come from your mother only, you are technically more related to your mum than you are to your dad.</p>
<p>This is true for pretty much all animals. In plants and fungi too, mitochondria come from one parent only, although not necessarily from the mother.</p>
<p>Why do we have two different kinds of inheritance, one for nuclear genomes (nDNA) that combine parts of the mother and the father, and one for mitochondrial genomes, that excludes one parent completely?</p>
<p>The reason behind the evolution of so-called uniparental inheritance has long been a mystery among evolutionary biologists. One thing was clear: it better be for a good reason. </p>
<p>Mammalian males go through the bother of actually tagging the mitochondria in their sperm so that it is easier to destroy them after the <a href="http://www.sciencedirect.com/science/article/pii/S0167488913001092">egg has been fertilised</a>. In plants too, the mitochondria from one parent are actively destroyed, this time before <a href="http://link.springer.com/article/10.1007%2Fs10265-009-0306-9">fertilisation takes place</a>.</p>
<p>For decades <a href="http://www.sciencemag.org/content/281/5385/2003.full">the prevailing theory</a> explaining why mitochondria inherit uniparentally was the “conflict theory”.</p>
<p>The idea is that mtDNA replicates independently within the cell, so the number of copies increases over time. And the more copies there are, the more likely some will be transmitted to the daughter cell when that cell divides.</p>
<p>If all mtDNA comes from one parent only, then mtDNA within a cell are closely related to each other, as they are all clones. Hence, there is not much scope for competition, as copies of the mitochondrial genomes are basically competing with exact copies of themselves.</p>
<h2>Unhealthy competition</h2>
<p>But imagine what could happen if organelles were derived from both parents, the four grandparents, and so on ad infinitum. This would set the scene for a genetically variable population of organelles in every cell.</p>
<p>And this could be bad news as now different clonal lineages of mtDNA are competing with each other. The faster mtDNA replicates, the more copies it produces and the more likely it will spread to the next generation of cells.</p>
<p>Ultimately, the slower reproducing organelle lineage will be eliminated from the cell lineage. The smaller an organelle’s genome, the faster it can replicate. Thus, competition among organelles within cells selects for smaller genomes.</p>
<p>At some stage genomes will be so small that the function of the organelle is affected. Remember that the mitochondria produce the energy the cell needs, so when their genome size becomes very small, the organelles cease to function properly and the host cell suffers.</p>
<p>Interesting idea. But what is the evidence? Sadly, none.</p>
<h2>Cleaning the mix</h2>
<p>Recently a much simpler explanation was proposed: what if the simple mixing of mitochondrial lineages within the same cell is for some reason costly in itself?</p>
<p>This very simple assumption actually nicely explains the peculiar inheritance of <a href="http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1005112">mitochondria in theoretical models</a>. </p>
<p>But there is more. Mice that were experimentally constructed so that individuals carried two mitochondrial lineages were less active, ate less, were more stressed and were <a href="http://dx.doi.org/10.1016/j.cell.2012.09.004">cognitively impaired</a>. It seems carrying mitochondria from both your parents is bad for you.</p>
<p>So why is the question of whether you are more like your mum or dad so hard to answer? Because your genetic make-up is only part of the equation. Which genes are expressed is the other part. And apparently your dad has the upper hand when it comes to <a href="http://www.nature.com/ng/journal/v47/n4/full/ng.3222.html">which genes are expressed</a>.</p>
<p>So, you may look more like your dad but are more related to your mum after all. How is that for a simple answer?</p><img src="https://counter.theconversation.com/content/50076/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Madeleine Beekman receives funding from the Australian Research Council. She is affiliated with the International Union for the Study of Social Insects. </span></em></p>How many times do people make the comment about which parent a child takes after. So what does genetics say?Madeleine Beekman, Professor of Behavioural Ecology and ARC Future Fellow, University of SydneyLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/453342015-08-17T05:32:56Z2015-08-17T05:32:56ZOur ‘Rosetta Stone’ gene could unlock the secrets of schizophrenia<figure><img src="https://images.theconversation.com/files/91818/original/image-20150813-21432-1raz7ax.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><span class="source">Shutterstock</span></span></figcaption></figure><p>Schizophrenia affects around <a href="http://www.nimh.nih.gov/health/topics/schizophrenia/index.shtml">1% of the global population</a> and can cause paranoia, hallucinations and a breakdown in patients’ thought processes, with a huge impact on their ability to carry out everyday tasks. Around 50% of people who suffer with the condition <a href="http://www.ncbi.nlm.nih.gov/pubmed/12511175">attempt suicide</a>. </p>
<p>There are currently relatively few treatments for the condition – and the drugs that are available can have <a href="http://www.rcpsych.ac.uk/healthadvice/treatmentswellbeing/antipsychoticmedication.aspx">unwanted side effects</a>, such as shakiness, weight gain and decreased libido. However, genetics may hold the key to developing more effective treatments. My colleagues and I <a href="http://www.sciencemag.org/content/349/6246/424">recently discovered</a> that one specific gene may allow us to decode the function of all genes involved in the disease. This “Rosetta Stone” gene has revealed a period early in the brain’s development when treatments may be most effective in preventing schizophrenia manifesting in the first place.</p>
<p>Mental health conditions are among the most challenging medical problems we face as scientists, partly because of the complexity of the biology underlying thought processes and partly because studying a living brain is very difficult. However, <a href="http://www.nimh.nih.gov/news/science-news/2013/five-major-mental-disorders-share-genetic-roots.shtml">recent studies</a> <a href="http://bjp.rcpsych.org/content/198/3/173">have begun to make</a> some headway in understanding the biology of mental health conditions by looking at the gene mutations carried by people diagnosed with such problems.</p>
<h2>Origins of genetic disease</h2>
<p>Gene mutations are present in all the cells in the body and can be examined by taking a blood sample. We now know that many of the genes involved in mental health conditions carry instructions for creating the proteins in the brain’s synapses. These are the connections between neurons that allow them to communicate with one another.</p>
<p>But despite knowing about hundreds of mutations associated with schizophrenia, we are relatively in the dark about what they all do. <a href="http://www.nature.com/nature/journal/v460/n7256/abs/nature08185.html">Many different mutations</a> can give rise to the same apparent condition. On the other hand, no single gene mutation necessarily gives rise to a discernible mental health problem.</p>
<p>One gene we do have some certainty about is known as “<a href="http://www.nature.com/mp/journal/v13/n1/full/4002106a.html">disrupted in schizophrenia gene 1</a>” (DISC1). It relates to a protein that, when mutated, can give rise to a number of mental health conditions including schizophrenia, bipolar disorder, major clinical depression and autism.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/91821/original/image-20150813-21432-2y1zp8.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/91821/original/image-20150813-21432-2y1zp8.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/91821/original/image-20150813-21432-2y1zp8.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/91821/original/image-20150813-21432-2y1zp8.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/91821/original/image-20150813-21432-2y1zp8.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/91821/original/image-20150813-21432-2y1zp8.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/91821/original/image-20150813-21432-2y1zp8.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">Thought breakdown.</span>
<span class="attribution"><span class="source">Shutterstock</span></span>
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<p>While schizophrenia may be inherited, the probability of inheritance from a mutation carried by one parent alone is relatively low. In contrast, DISC1 mutations are highly <a href="http://medical-dictionary.thefreedictionary.com/penetrance">penetrant</a>, meaning that carrying the mutation is highly likely to give rise to the characteristic problem.</p>
<p>This makes DISC1 a very useful experimental tool, because if a laboratory animal such as a mouse carries the mutation, it is highly likely to exhibit the functional problem and to give rise to offspring with the same problem. Studying DISC1 solves two problems at once: we do not need to look at human neurons because we can use mice instead – and we only need a single mutation rather than the several gene mutations that normally give rise to the condition.</p>
<p>In our studies on DISC1 mice, we have found that the gene has an important function during an early period of brain development. If you impair the function of DISC1 for just two days during the second week after birth, the animal grows up with a lack of brain plasticity (the ability to change neural pathways over time) in the synapses that were trying to form at the time.</p>
<h2>Targeting schizophrenia’s vulnerable period</h2>
<p>Different parts of the brain may mature at different times, but most cortical areas go through a similar sequence of development. Therefore, different areas are all likely to go through the vulnerable period at some point in their development. One of the challenges for the future is to discover what these “critical periods” are for different areas of the brain. </p>
<p>So how can studying DISC1 help us decode what is going wrong with other genes in schizophrenia? Our thought is that we may have identified a critical period in development, which is a common vulnerable period for all – or at least many – of the genes identified as risk factors in schizophrenia. DISC1 mutations have also been linked to autism and Asperger’s syndrome, suggesting that the developmental effects of DISC1 could also be important for understanding these mental health conditions.</p>
<p>The interaction between gene mutations and brain development may have made it difficult to understand how the long list of risk factors can cause problems in the adult brain. Now we know when to study the function of other risk factors and what the outcome is for adult function. We hope this will allow us to throw some light on what the other genes involved in schizophrenia are doing (or doing wrong) during development to give rise to the debilitating condition of schizophrenia.</p><img src="https://counter.theconversation.com/content/45334/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Kevin Fox receives funding from the Medical Research Council</span></em></p>Scientists have discovered that a single gene may reveal a weakness in the development of schizophrenia that could help doctors prevent the condition.Kevin Fox, Professor of neuroscience, Cardiff UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/323532014-10-29T09:34:19Z2014-10-29T09:34:19ZMom’s prenatal hardship turns baby’s genes on and off<p>In January 1998 five days of freezing rain collapsed the electrical grid of the Canadian province of Québec. The <a href="http://en.wikipedia.org/wiki/North_American_Ice_Storm_of_1998">storm</a> left more than 3 million people <a href="http://people.uwec.edu/jolhm/EH4/Ice%20Storms/Ice%20Storms/Ice%20Storms_Final.pdf">without electricity</a> for anywhere from a few hours to 45 days – one of the worst natural disasters in Canadian history.</p>
<p>As devastating as the ice storm and its effects were, these challenging conditions also provided an unusual research opportunity.</p>
<p>As a professor of psychiatry, I’ve long been interested in stress during pregnancy. Usually we’re forced to study prenatal stress <em>retrospectively</em>. Researchers have relied on databases of birth, death, and health information to conclude that exposure to major events during pregnancy, like <a href="http://bjp.rcpsych.org/content/172/4/324.short">war</a> or <a href="http://humrep.oxfordjournals.org/content/24/2/429.short">death of a relative</a>, increases health risks in the unborn child. Interviewing mothers many years later about stressful events that might have occurred during their pregnancies is another retrospective way to examine the question. But it still doesn’t get at what it was about the stressful event that influenced the fetus’s development.</p>
<figure class="align-right ">
<img alt="" src="https://images.theconversation.com/files/61078/original/4yphm3j9-1412705205.png?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/61078/original/4yphm3j9-1412705205.png?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=609&fit=crop&dpr=1 600w, https://images.theconversation.com/files/61078/original/4yphm3j9-1412705205.png?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=609&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/61078/original/4yphm3j9-1412705205.png?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=609&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/61078/original/4yphm3j9-1412705205.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=766&fit=crop&dpr=1 754w, https://images.theconversation.com/files/61078/original/4yphm3j9-1412705205.png?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=766&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/61078/original/4yphm3j9-1412705205.png?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=766&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">How would the ice storm affect unborn babies?</span>
<span class="attribution"><a class="source" href="http://www.shutterstock.com/pic-121804579/photo-a-beautiful-outdoor-pregnant-woman-portrait-in-snowy-nature.html?src=DlhDD12Bu-lplBokVX-gHA-1-3">Pregnancy image via www.shutterstock.com</a></span>
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<p>The challenging conditions left in the ice storm’s wake provided the unusual opportunity to study prenatal stress <em>prospectively</em>. Living without electricity in the middle of the Canadian winter would stress plenty of pregnant women. Instead of looking backwards, we could track effects of stress going forward in time.</p>
<p>So in June 1998 we recruited nearly 200 women who were pregnant during the ice storm. We sent them questionnaires to measure the objective severity of the hardship they experienced (days without electricity, financial loss, injuries, moving house and so on), and also how much subjective distress they were still feeling from the disaster. </p>
<p>Since then, we have seen that a mother’s level of objective hardship predicts many outcomes: the more days she was without electricity, for example, the <a href="http://www.nature.com/pr/journal/v56/n3/abs/pr2004225a.html">lower</a> the <a href="http://www.tandfonline.com/doi/abs/10.1080/15250000701298741#.VDRT4FboYUs">child</a>’s <a href="http://www.sciencedirect.com/science/article/pii/S0890856708600829">IQ</a>, the greater the child’s risk of <a href="http://www.nature.com/pr/journal/v71/n1/abs/pr201118a.html">becoming obese</a>, and the <a href="http://www.sciencedirect.com/science/article/pii/S0378378213001448">more insulin the child secreted</a> in a glucose tolerance test, which might set him up to develop diabetes later in life. </p>
<p>The big surprise was that the mother’s subjective experience of distress had no effect on any of these outcomes. The theory had been that prenatal maternal distress could affect the fetus’ development via the mother’s stress. Distress would trigger a cascade of stress hormones in her body that would then pass through the placenta to disrupt normal development of the baby. There was no room in that theory for objective hardship to have an effect on the baby without going through the mother’s level of distress and her resulting stress hormones.</p>
<p>We were perplexed: how is it that a child whose mother stayed calm and collected during the ice storm despite losing power for weeks could have worse outcomes than one whose mother was clearly distraught by the ice storm but never lost power? Our study showed it was happening, but how could objective maternal hardship – independent of subjective stress – affect these biological mechanisms? To investigate, my colleague Dr. Moshe Szyf and I started to look at the epigenetics of the ice storm kids.</p>
<p>To understand <a href="https://theconversation.com/explainer-what-is-epigenetics-13877">epigenetics</a>, imagine that your genetic makeup is a printed sheet of music, the product of the DNA from your mother and father. Every human being has a different song printed on their score, and no one can change what has been printed.</p>
<figure class="align-left ">
<img alt="" src="https://images.theconversation.com/files/61075/original/8jk8vvk3-1412704077.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/61075/original/8jk8vvk3-1412704077.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=450&fit=crop&dpr=1 600w, https://images.theconversation.com/files/61075/original/8jk8vvk3-1412704077.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=450&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/61075/original/8jk8vvk3-1412704077.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=450&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/61075/original/8jk8vvk3-1412704077.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=566&fit=crop&dpr=1 754w, https://images.theconversation.com/files/61075/original/8jk8vvk3-1412704077.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=566&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/61075/original/8jk8vvk3-1412704077.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=566&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">How fast or slow is the song in your DNA played?</span>
<span class="attribution"><a class="source" href="http://pixabay.com/en/music-classical-sheet-music-piano-277278/">Rebecca Jasso</a></span>
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<p>On the other hand, any song can be played in different ways: a little faster here, a little slower there; a little louder here, but softer there. These nuances may be written on the printed score. And so it is with our DNA, which cannot be changed, but can take on different forms according to markings made on it by the environment.</p>
<p><a href="http://en.wikipedia.org/wiki/DNA_methylation">Methylation</a> is one way those markings are made on the score of DNA. Imagine that your DNA has thousands of little switches, like dimmers on lights, which slide up and down to increase or decrease the expression of those genes. The process of adding biochemicals called methyl groups to those little switches is methylation. Where these methyl groups are attached to your DNA helps determine which genes in your genome are actually expressed.</p>
<p>We wanted to know if mothers’ objective hardship or subjective distress from the ice storm changed the way in which the babies’ DNA was methylated. In 2011, 34 of the children, then 12 or 13 years old, gave blood samples. Our post-doctoral fellow Dr. Lei Cao <a href="http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0107653">found</a> that the women’s objective level of hardship from the ice storm predicted the children’s epigenetic profile, while their level of distress from the storm didn’t predict any effect. For instance, the more times the family changed house during the crisis predicted more methylation in certain genes – regardless of the mom’s subjective feeling of stress during the ice storm. As in our earlier work, the changes in the kids weren’t due to their mothers’ degree of emotional distress following the ice storm, but rather to factors outside of the moms’ control, such as the number of days without electricity.</p>
<p>Though small, our study showed the 1998 ice storm created sufficient hardship for pregnant women that it caused epigenetic changes in their unborn children that have lasted at least 13 years – that’s pretty permanent! No other study had previously shown epigenetic effects linked to objective hardship rather than subjective distress.</p>
<p>The objective severity of the mothers’ hardship most affected the methylation of two kinds of genes in the ice storm kids: immune system genes, which might increase risk for asthma and allergies, and metabolism genes, which might affect risk of obesity or diabetes. Our next challenge is to figure out how these epigenetic changes actually affect the children’s health. And a remaining big question is how did the mothers’ experiences produce these altered patterns of gene expression?</p><img src="https://counter.theconversation.com/content/32353/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Suzanne King, Ph.D. receives funding from The Canadian Institutes of Health Research (CIHR).</span></em></p>In January 1998 five days of freezing rain collapsed the electrical grid of the Canadian province of Québec. The storm left more than 3 million people without electricity for anywhere from a few hours…Suzanne King, Full Professor of Psychiatry, McGill UniversityLicensed as Creative Commons – attribution, no derivatives.