Are we getting close to the time when parents would have the option of genetically engineering their children at the embryo stage? If so, is this a good thing, a bad thing, or both? In order for this to happen such engineering would need to be technically, legally, and commercially viable. Let’s take these in order, and then discuss the potential implications.
The main reason this is even a topic for discussion is because genetically engineering is technically feasible. Obviously we do it to plants and animals all the time. We also have increasingly powerful and affordable technology for doing so, such as CRISPR. This is already powerful and practical enough for small startups to perform CRISPR as a service, if it were legal. We already have FDA-approved CRISPR treatments, and have performed personalized CRISPR therapy. CRISPR is fast and affordable enough to have made its way into the clinic. But there is a crucial difference between these treatments and genetic modification – these treatments affect somatic cells, not germ-line cells. This means that whatever change is made will stay confined to that one individual, and cannot get into the human gene pool. What we are talking about now is genetically modifying an embryo at an early enough stage that it will affect all cells, including germ cells. This means that these changed can be passed down to the next generation, and effectively enter the human gene pool.
This difference is precisely why there is regulation dealing with such procedures in many countries, including the US. In the US the situation is a little complex. It is not explicitly illegal to perform germ line gene editing on humans. However, there is a ban on federal funding for any such research. This does allow for private funding of such research, but any resulting treatment would still need FDA approval, which is highly unlikely in the current environment. Despite this, there is discussion among several startups to start exploring this idea. Why this is happening all at once is not clear, but it seems like we have crossed some threshold and startups have noticed. With current regulation, where does that leave us regarding our three criteria?
Technically a CRISPR-based germ-line treatment for humans is possible. We do have the technology. What needs to be worked out is specific changes and their results. This would require clinical trials, and that is the main stumbling block in the US and some other countries. It seems unlikely the FDA would approve such trials, and therefore there would be no way to even work towards FDA approval. A company could theoretically do privately funded studies that are not part of FDA approval, but they would still need ethical approval (IRB approval) for such studies, which may prove difficult (although not necessarily impossible). Such research could be carried out in countries with more lax regulations, however. Over 70 nations have such regulations, which means many do not. So technically we are theoretically close to having marketable treatments designed to change actual human genetic inheritance.
Legally, in most developed nations there does not appear to be any appetite for allowing human germ-line manipulation. However, such services could be offered in countries without hindering regulations, perhaps the same countries in which the translational research was done. We currently do not have any international bans or regulations. The WHO advises against germline engineering, but there are no legally-binding international regulations. This is a technology that definitely requires not only an international consensus but enforceable regulations, because what happens in one country can affect the entire human population.
In short, there is a pathway to skirt any current regulations and make such treatments available. However, if startups start developing germline-altering treatments, that might motivate governments to find ways to regulate and effectively ban such treatments. Would such treatments be commercially viable? If by this you mean – would there be a customer base willing to pay enough to make it a profitable service, the answer is clearly yes. If you mean – are there companies currently offering such services, the answer is no. But that may be changing soon.
What could be the implications of this technology? It depends on how it is regulated and used (like so many advanced technologies). I will speculate on what I think is the best-case and worst-case scenarios. Best case, such technology would be used to minimize the burden of genetic disease. We already have treatments to sort sperm to avoid sex-linked mutations and to select more genetically healthy sperm. But what if we could do this down to the individual gene, and make sure the IVF occurs only with sperm that does not contain an allele for a genetic disease? I can’t see any downside to this.
The next step, however, would be altering genes, not just selecting them. But again, this could be limited to altering genes that would result in a genetic disease to a healthy version. The resulting gene would be one that is already in the human population, and the only result would be the elimination of one version of that gene that is disease-causing. Again, hard to see a downside. Such treatments would almost certainly be more cost effective than managing the genetic disease itself. And if it were done to the germline, it would only have to be once for that genetic line. I suspect that when such treatments become technically available, and confidence is high enough in the technology itself, they will become legal and available.
But there are at least two other categories of genetic alteration that become increasingly problematic. The first category we can call disease treating. The second is risk modifying. What if we could also alter a gene from one version that conveys a high risk of ultimately developing Alzheimer’s disease, to another version that has a relatively low risk? This would not be treating a genetic disease, but simply altering the genetic risk of developing a disease. We could potentially do the same for high cholesterol, diabetes, obesity, and high blood pressure. Again, we would not be introducing any new genes into the human gene pool, just giving people alleles that convey lower risk of specific diseases.
However, there is a potential downside here. If such treatments became common, they would potentially reduce genetic diversity in the human population. Many genes that convey a high risk in one area have other benefits. They just have different tradeoffs. We may be reducing disease risk in one area, but also reducing resilience to other diseases. In other words, there is a potential for unforeseen consequences. Also, the number of people who could potentially benefit from such genetic alterations is much higher than for genetic diseases, so the implications for the human gene pool are greater. The risk-benefit ratio is therefore harder to calculate. I think such treatments might be viable one day, but would require a lot of research to minimize the possibility of unforeseen negative consequences.
The final category I will call gain-of-function alterations. This might include introducing genes from other species or novel genetic alleles that provide a phenotype that does not currently exist in the human population. This category has the greatest potential for change, and therefore for both best-case and worst-case scenarios. Some people might think there is no best-case in this category, and that is reasonable if you think that the risk will never be worth it, and such changes could alter what it even means to be human. If we still want to imagine a best-case, that might involve limiting such changes to ones for which there is a robust consensus that they would be good for humanity with little to no down side. This would also have to include some consideration of fair and just access to such changes. Perhaps this might include genes that help adapt people to living in space or on Mars, or eliminate addiction. It’s hard to think of a lot of examples outside of disease modification, however.
It is much easier to imagine worst-case scenarios. The common ones that are frequently raised include creating not just different classes of people, but different subspecies. Wealthy individual could potentially afford a suite of upgrades to their children, making them smarter, stronger, healthier, with a longer lifespan. It’s hard to imagine such a thing ending well. Another classic doomsday scenario is the creation of genetic supersoldiers, creating an arms race among competitive nations to engineer the most deadly soldiers. Again, hard to see this ending well. Yet another common sci-fi scenario is the introduction of genes that will significantly alter the human phenotype, blurring the lines between human and non-human. And of course the ultimate worst-case scenario, an accidental (or perhaps not so accidental) genetic apocalypse. There is a range of possibilities here as well, with the absolute worst imagined in a Rick and Morty episode where the entire planet was reduced to genetic monstrosities.
There are also some edge cases that have complex elements, including some truly horrific ones. What if, for example, genetic alteration could change someone’s apparent “race” or even their biological sex? What would be the social implications of an African family deciding they wanted a European looking child, or vice versa. How common would this become? Would apparent race become a fad, shifting from generation to generation? It is now common among some Asian youth to seek eyelid cosmetic surgery. What if this could be accomplished with gene therapy? How accepting would society be towards pre-pubescent children wanting gene therapy to alter their biological sex so that they go through puberty as the other sex? How would the furry community react to the possibility of genetic furriness? What if parents wanted for their children a standard of beauty that is generally considered to be extreme, even freakish? What if a culture decides that women should be genetically prevented from having certain bodily functions?
Genetic alteration is a powerful technology, especially when applied to the germline. There is the potential for extreme good, extreme harm, and extreme weirdness. Sounds like an area that would benefit from thoughtful regulation, and not left to the whims of startup culture.
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Many products have claims to to “support” your mitochondria. For healthy adults, these claims remain largely speculative and unproven.
The post Do our mitochondria need support? first appeared on Science-Based Medicine.Two images of protoplanetary disks side-by-side. The left image shows a dark horizontal band covering the star, with broad, colorful, conical outflows above and below it, and a narrow jet pointing directly up and down from the star. The right image shows the star within a yellow dusty disk, with scattered dust creating purple lobes above and below the disk. Each is on a black background with several galaxies or stars around it.
A Mercury lander mission would create opportunities to sample unique geological features. However, extreme temperature fluctuations on Mercury’s surface pose challenges for exploration on the planetary surface. In a narrow region near the terminator, temperate conditions would allow a rover to run on solar power and collect data and surface samples without needing to withstand the extreme heat.
In the vastness of the Universe, any new object with interesting properties can spur the search for similar objects, potentially establishing a new class of stars. In a paper published in Astronomy & Astrophysics and an arXiv preprint, researchers from the Institute of Science and Technology Austria (ISTA) describe two stellar remnants that share five properties, including X-ray emission, despite being isolated objects. According to the team, these two remnants are sufficient to define a new class of stars.
This video showed up as a “suggestion” when I was watching YouTube (no, I’m not a Nazi), and I was curious to see what the last German propaganda newsreel of WWII showed. Among other things, which are explained in the 12½-minute clip, is the last video taken of Hitler, showing his left hand shaking violently (5:34), a symptom medical historians have attributed to Parkinson’s disease. (This bit wasn’t shown in the final video.) Hitler committed suicide on April 30, 1945—just five weeks after this newsreel appeared in German cinemas.
The footnotes show the direct translation, but there’s English narration of what’s going on in the video beginning 48 seconds in.
There’s a Wikipedia article on the newsreel series called, Die Deutsche Wochenschau, and here are two paragraphs from it:
Die Deutsche Wochenschau (German for ‘The German Weekly Review’, lit. ‘The German Weekly Look‘ or ‘The German Weekly Show‘) is the title of the unified newsreel series released in the cinemas of Nazi Germany from June 1940 until the end of World War II, with the final edition issued on 22 March 1945. The co-ordinated newsreel production was set up as a vital instrument for the mass distribution of Nazi propaganda at war. Today the preserved Wochenschau short films make up a significant part of the audiovisual records of the Nazi era.
. . . Among the many notable scenes preserved by the newsreel are the Nazi point of view during the Battle of Normandy, the footage of Hitler and Mussolini right after the 20 July plot, and the last footage (No. 755) of Hitler awarding the Iron Cross to Hitler Youth volunteers in the garden of the Reich Chancellery shortly before the Battle of Berlin. Its last documentary, Traitors before the People’s Court, depicted the trial of the accused in the 20 July plot, and was never shown.
It’s fascinating to see how, with the Russians closing in on Berlin, the German people were not told of it but instead were misled to think that they might successfully resist the enemy.
Please allow me to show you pictures of my children, which this year comprise a pair of mallards (Anas platyrhynchos) and a pair of wood ducks (Aix sponsa). The latter don’t seem to be breeding here as they’re on the pond most of the day, and because female wood ducks nest in tree holes, and we ain’t got any.
The female mallard, named Vashti, is nesting nearby, but I’m keeping her nest location as secret as I can as I don’t want people disturbing her while she’s incubating her clutch of seven eggs. I expect a hatch about April 19 or so. The male mallard, named Armon, patiently awaits Vashti, who comes down to the pond once a day to have a big feed and a bath and preening session. Those sessions last about 15 minutes, but Armon, a lovesick drake, patiently patrols the pond for about 23 hours and 45 minutes per day.
The wood ducks are absent in the mornings but then are at the pond most of the rest of the day, which tells me that the wood duck hen is not sitting on eggs.
But have a look at these gorgeous wood ducks: feathered jewels. I’ve added a few photos of our resident turtles, red-eared sliders (Trachemys scripta elegans). Of the five we put in last fall, I’ve seen two or three. The other turtles must have either died during hibernation or simply walked away from the pond.
Below: the wood duck pair, whom I haven’t named as no names suggested have seemed appropriate. This is an example of extreme sexual dimorphism, as you can clearly see. Why females chose males with those patterns, colors, and a crest is something we don’t understand. But it’s clearly another example of sexual selection in birds, something that ultimately devolves to the difference between the sexes in gamete size and investment. (Yes, there are two sexes in all of these animals.)
Do click on the photos to enlarge them.
The male. I can’t get enough of seeing him and marveling at his beauty. The only other wild duck to rival this phenotypic glory is that of the male mandarin duck (Aix galericulata), a species found in East Asia. Wood ducks, however, are natives here.
He has satanic red eyes, but really is very gentle (also quick and much smaller than a mallard):
Here’s a video of the male and female wood duck having their lunch at Botany Pond:
Wood ducks seem quite romantic to me. They are always very close to each other and sometimes the male nuzzles the female.
I need names! The hen:
They are quite plump, as I ensure that they never go hungry.
Armon doesn’t really like the wood ducks, but somehow knows to chase them halfheartedly, as you see him chasing the male wood duck here. When an undocumented drake flew into the pond last Saturday, and began chasing Vashti off her nest (he was clearly eager to copulate), Armon went after him big time. With the help of Armon, a lot of running and yelling, and my trusty Super Soaker, I finally managed to expel the intruder. Here Armon goes after the male wood duck, who is much faster and more agile.
This is my favorite picture of the pair. They both have their heads cocked, probably looking at something above like a hawk. Ducks have eyes on the sides of their heads, and so must cock them if they want to see above. It’s very cute when they do that, and rare to see a pair do it simultaneously:
The hen has iridescent feathers, too, but they’re less conspicuous and usually covered by the wings. They are probably byproducts of the colors that are exaggerated in males. You can see some of them below:
Have another picture of my boy:
The male woodie standing on one leg, doing his flamingo impression. (Ducks do this to conserve heat, and this was a chilly day.)
As I said, Vashti is incubating her eggs, but she comes down to the pond for about 15 minutes per day for a nosh and a bath. Here’s part of her preening session, which is quite vigorous. Shortly thereafter she flew off to her nest. Note that Armon stays nearby, as he gets only a few minutes per day with his mate and lady love.
And we mustn’t forget the turtles! On warm days they come out of the water to soak up sun on the rocks, extending their limbs to get as much heat as possible. We call this “turtle yoga.”
The long claws tell us that the one below is a male (they use the claws in courtship):