Embryonic Human DNA Has Just Been Successfully Repaired in the U.S.
U.S. scientists have successfully repaired DNA in a human embryo for the first time.
American researchers have announced the successful repair of a human embryo's genes. As reported in the journal Nature, they used CRISPR-cas9. On one hand, their success represents an exciting breakthrough and on the other, it's a stark reminder of all we don't yet understand about human genetics. That's because the repair of the gene occurred in a way that researchers didn't anticipate.
The gene they repaired is MYBPC3. A mutation in it causes hypertrophic cardiomyopathy (HCM). With HCM, which is estimated to occur in 700,000 to 725,000 U.S. citizens — 1 in 500's heart muscle becomes thickened. Many people lead normal lives with it, with or without treatment. HCM isn't restricted to any particular group or gender, either, but the disease is especially worrisome in young people, where its first symptom can be sudden death — in fact, it's the most common cause of death in young athletes.
Word of the repair first appeared in i News, followed a week later by the peer-reviewed study in Nature. An international team authored the study, with scientists from Oregon, California, China, and South Korea. They were led by senior author Shoukhrat Mitalipov, director of the Center for Embryonic Cell and Gene Therapy at Oregon Health and Science University (OHSU).
Shoukhrat Mitalipov (UYGHUR HUMAN RIGHTS PROJECT)
The new study involved embryos created with eggs from 12 healthy females injected with sperm from a male with the MYBPC3 mutation. The team tried twice, using a cas9 enzyme targeting the mutation they sought to snip out. The cas9 enzyme was accompanied by a synthetic DNA template modeled after a normal MYBPC3 gene, but chemically tagged so it could be identified by researchers later.
CRISPR After Fertilization
In the first experiments, the scientists fertilized 54 eggs with the sperm, and then injected the cas9 enzyme and template post-fertilization.
In 36 of the embryos (66.7%), the mutation was repaired. Of the remaining 18 (33.3%), 5 embryos were simply not repaired. The other 13 were more troubling: They contained a “mosaic" of repaired and unrepaired genes that may represent a potential time bomb for subsequent generations, one of the reasons many are encouraging caution when modifying embryos. Bioethicist L. Syd M Johnson tells Big Think, “It's one thing to use experimental gene therapies in patients, where the modifications will be isolated to that individual. It's something else entirely to make genomic changes that could potentially be passed on to future generations, which is what happens when you alter an embryo."
If you carry the MYBPC3 mutation, there's a 50% chance your children will develop HCM. It only takes one parent having the mutation for offspring to acquire the condition.
CRISPR During Fertilization — and a Surprise
In the second round, the scientists injected the sperm, cas9, and the DNA template together, and the the result was a pronounced increase in their success rate. In 42 of the 58 embryos, 72.4%, the mutation was successfully snipped out and replaced by cells without the MYBPC3 mutation. And — most encouragingly — no mosaic embryos were produced.
But here's the surprise, and the reminder of how much there still is to learn. The replaced DNA in all 41 of the repaired embryos was not from the injected DNA template — instead it was non-synthesized, or “wild," MYBPC3 material from the maternal egg. “We were so surprised that we just couldn't get this template that we made to be used," Mitalipov tells New York Times. “It was very new and unusual."
It also allows Mitalipov to hedge a bit as to just exactly what he and his team have done. “Everyone always talks about gene editing," he says. “I don't like the word 'editing.' We didn't edit or modify anything. All we did was unmodify a mutant gene using the existing wild-type maternal gene." In other words, we didn't implant synthetic DNA in anyone. This is why the title of his paper is “Correction of a Pathogenic Gene Mutation in Human Embryos." To be fair, “unmodifying" something should really mean to just leave it alone, and it may be more accurate to say that his team simply snipped out a mutation and the embryo unexpectedly did the rest.
The study notes the potential for repairing embryos with undesirable mutations before they're implanted during IVF, and others agree that reducing the number of defective embryos would be a positive thing. Not everyone's comfortable with the idea though. There is the issue of the potential for engineering “designer babies." Hank Greely, director of the Center for Law and the Biosciences at Stanford notes, “If you're in one camp, it's a horror to be avoided, and if you're in the other camp, it's desirable."
“There's an additional worry that this technology might be used for nefarious purposes," says Johnson, “to advance eugenicist policies, for example, to 'weed out' undesirable traits or people." She adds, “It's a small conceptual step to move from so-called undesirable traits to undesirable humans. Humans have an unfortunate history of taking that step."
Mitalipov's next step is to see if he can similarly “unmodify" other mutations, including some that are trickier to target than MYBPC3s. The legal terrain in the U.S is not exactly welcoming of such efforts, with the Food and Drug Administration prohibited from permitting clinical trials of germline engineering, and the National Institutes of Health not funding research on gene-editing in humans. (Mitalipov's work was funded by OHSU, the Institute for Basic Science in South Korea, and some private foundations.) This may be starting to change, though — a committee of the National Academy of Sciences, Engineering and Medicine has recently endorsed the modification of human embryos for the purposes of repairing mutations that would otherwise lead to a serious condition if there's no other known remedy.
While the possibilities suggested by the study's success are obvious, the results weren't perfect, and there's more work to be done. As Gaétan Burgio told WIRED, “This is a remarkable paper that shows how much the field has progressed in just the last year or two. But I think for now everyone needs to chill down a bit."
Johnson notes, “We are talking about the future of the human species here. Before we rush headlong into a future where germline genetic modifications of humans might be possible, it's important to consider whether that's a future we really want, how the use of the technology will be controlled, who will have access to it, and how human individuals and the diversity of our species will be protected."
What would happen if you tripled the US population? Join Matthew Yglesias and Charles Duhigg at 1pm ET on Monday, September 28.
Whether or not women think beards are sexy has to do with "moral disgust"
- A new study found that women perceive men with facial hair to be more attractive as well as physically and socially dominant.
- Women tend to associate more masculine faces with physical strength, social assertiveness, and formidability.
- Women who display higher levels of "moral disgust," or feelings of repugnance toward taboo behaviors, are more likely to prefer hairy faces.
Beards and perceptions of masculinity<img type="lazy-image" data-runner-src="https://assets.rebelmouse.io/eyJhbGciOiJIUzI1NiIsInR5cCI6IkpXVCJ9.eyJpbWFnZSI6Imh0dHBzOi8vYXNzZXRzLnJibC5tcy8yMjU5OTg0MC9vcmlnaW4uanBnIiwiZXhwaXJlc19hdCI6MTY0NzkxMjM3N30.cH-GqNwP5GVqvstgJWAhBPn1B_lYpVEAI0I7iax7EQw/img.jpg?width=1245&coordinates=0%2C1900%2C0%2C849&height=700" id="caae6" class="rm-shortcode" data-rm-shortcode-id="cb0a355a4e8e1899789bc45f3f7aef56" data-rm-shortcode-name="rebelmouse-image" />
Photo Credit: Wikimedia<p>The study used 919 American (mostly white) women ages 18-70 who rated 30 pictures of men they were shown with various stages of facial hair growth. The photographs depicted men with faces that had been digitally altered to look more feminine or more masculine, with a beard and without a beard. The women rated the men according to perceived attractiveness for long-term and short-term relationships. The study found that the more facial hair the men had, the higher the men were rated on their attractiveness, particularly for their suitability for a long-term relationship.</p><p>Part of this might be attributed to facial masculinity — i.e. protruding brow ridge, wide cheekbones, thick jawline, and deeply set narrow eyes — which conveys information to a woman about a man's underlying health and formidability. Women tend to associate more masculine faces with physical strength and social assertiveness. It can also indicate a man with a superior immune response. The researchers suggested that their findings favoring bearded men could be due to the fact that facial hair enhances the masculine facial features on a man's face, like creating the illusion of a thicker jaw line. This could communicate direct benefits to women like resources and protection that would enhance survival among mothers and their infants. In other words, while a beard doesn't mean superior genetics in and of itself, it might be a primitive, ornamental way of saying, "Hey girl, I'm a testosterone-fueled lean, mean, pathogen fighting machine." <br></p><p>It could also be that a beard becomes its own destiny. The researchers in this study cite prior research that found that by growing a beard, men felt more masculine and had higher levels of serum testosterone, which was linked to a higher level of social dominance. They also tended to subscribe to more old-school beliefs about gender roles in their relationships with women as compared to men with clean-shaven faces.<span></span><br></p>
What does disgust have to do with beard preference?<p>Obviously, not all women dig beards. The researchers were particularly interested in what traits make a women prefer bearded men over clean-shaven faces. They looked into several factors including a woman's disgust levels on various concepts, her desire to become pregnant, and her exposure to facial hair in her personal life. </p><p>According to the study, women who were not into facial hair were turned-off by potential parasites or other critters they imagined could be in the hair or skin. Women ranking high on this "ectoparasite disgust" scale might have viewed beards as a sign of poor grooming habits. However, women who ranked higher in levels of "pathogen" did find the bearded men to be desirable, possibly because they perceived beards as a signal of good health and immune function. An intriguing discovery in the study was links to morality. Women who displayed higher levels of "moral disgust," or feelings of repugnance toward taboo behaviors, were more likely to prefer hairy faces. The authors opined that this could reflect a link between beardedness, politically conservative outlooks, and traditional views regarding performances of masculinity in heterosexual relationships.</p>
Additional findings<img type="lazy-image" data-runner-src="https://assets.rebelmouse.io/eyJhbGciOiJIUzI1NiIsInR5cCI6IkpXVCJ9.eyJpbWFnZSI6Imh0dHBzOi8vYXNzZXRzLnJibC5tcy8yMjU5OTg1My9vcmlnaW4uZ2lmIiwiZXhwaXJlc19hdCI6MTYyNDI1NjUyOX0.P9B8WbmJR0q4nfzYZKbuNSA-2SAigVWJgrQE-_Gxlds/img.gif?width=980" id="49143" class="rm-shortcode" data-rm-shortcode-id="2ed3b1d6f20fc170bf2974646e565e8d" data-rm-shortcode-name="rebelmouse-image" />Giphy<p>The correlations that existed between married and single women's rating on the attractiveness of beards were not particularly clear, although the researchers noted that single and married women who wanted children tended to find beards more attractive than the women who didn't want children. They also found that women with bearded husbands found beards to be more attractive, which might indicate that social exposure to beards influences how desirable they are perceived of as being. Or it could be that men with wives who like beards grow beards.</p><p>It's important to note that culture plays a huge role in how attractive women perceive certain male characteristics as being. This study looked at a small, culturally specific group of American women, so no big, universal claims should be made about masculinity, facial hair, and male desirability to women. However, research like this is important in highlighting how human grooming decisions are driven by much more than fashion trends. Sociobiological, economic, and ecological factors all play a part in the way we choose to present ourselves.</p>
Dominique Crenn, the only female chef in America with three Michelin stars, joins Big Think Live.
Having been exposed to mavericks in the French culinary world at a young age, three-star Michelin chef Dominique Crenn made it her mission to cook in a way that is not only delicious and elegant, but also expressive, memorable, and true to her experience.
Controversial physics theory says reality around us behaves like a computer neural network.
- Physicist proposes that the universe behaves like an artificial neural network.
- The scientist's new paper seeks to reconcile classical physics and quantum mechanics.
- The theory claims that natural selection produces both atoms and "observers".
Vanchurin interview:<span style="display:block;position:relative;padding-top:56.25%;" class="rm-shortcode" data-rm-shortcode-id="539759cbfd8fcd5b6ebf14a3b597b3f9"><iframe type="lazy-iframe" data-runner-src="https://www.youtube.com/embed/bmyRy2-UhEE?rel=0" width="100%" height="auto" frameborder="0" scrolling="no" style="position:absolute;top:0;left:0;width:100%;height:100%;"></iframe></span>
Vanchurin on “Hidden Phenomena”:<span style="display:block;position:relative;padding-top:56.25%;" class="rm-shortcode" data-rm-shortcode-id="18886ffd5e5840bb19d4494212f88d82"><iframe type="lazy-iframe" data-runner-src="https://www.youtube.com/embed/2NDVdNwsHCo?rel=0" width="100%" height="auto" frameborder="0" scrolling="no" style="position:absolute;top:0;left:0;width:100%;height:100%;"></iframe></span>Vitaly Vanchurin speaking at the 6th International FQXi Conference, "Mind Matters: Intelligence and Agency in the Physical World." The Foundational Questions...
43% of people think they can get a sense of someone's personality by their picture.
If you've used a dating app, you'll know the importance of choosing good profile pics.
Quarantine rule breakers in 17th-century Italy partied all night – and some clergy condemned the feasting
17th-century outbreaks of plague in Italy reveal both tensions between religious and public health authorities.