Deaf girl is cured in world first gene therapy trial
independent.co.uk
independent.co.uk
Pretty sure this little girl and my Mom don't share the same disability at all but she saw these news today and texted me so excited because future kids won't have to endure the same.
Brings tears to my eyes, I'm so grateful for modern medicine and its stupendous advances.
Astonishing. Sorry it's not a permanent fix for you, but it's impressive as hell that they could do anything.
When cochlear implants became routine there was a brief protest by the deaf and hard-of-hearing community. The line between people with a disability and a person who is simply different is a longstanding debate. How and when medicine should intervene is a hot button issue.
I had a relative born with a malformed ear canal. The doctors rushed to get her the surgery needed so that she could hear equally in both ears, before her developing brain started ignoring the "bad" ear. A few years in and her hearing is now better than mine.
For us, it's about the ease with which oral communication connects to others, and a deep love of music. Both of us have an easier time recognizing voices than faces, and this was true even when we were younger and our vision was mostly normal.
This isn't to say one bodily sense or one way of engaging with the world is objectively 'better' than another. I don't think that's true. I'm sure there are many people for whom their vision (or some other sense or mode of engaging with the world) is much more dear to them for their hearing, and that's not wrong, either.
> I say this as someone with -10 prescriptions, which is close to legal blindness without my glasses
Given that much of the point of the designation 'legally blind' is that the impairment is uncorrectable, this is a pretty unfortunate phrase imo, common as it is. (I have about the same level of myopia, fwiw.)
Why is this unfortunate? The designation also very much refers to the severity of the impairment, not just whether it's correctable. Perhaps this depends on the country?
(If you spend years where the best vision you get is worse than, 20/200 or whatever, because you don't actually have access to adequate correction, that is actually relevant to discussions of blindness even if your vision is in principle correctable, sure.)
Blind people have to adapt their lives in ways that are just not reflected in taking off one's glasses for a moment or wearing a blindfold for a bit. And when you're as myopic as a -10, the times when you go without correction are typically momentary because not having correction is not optional for you.
At the same time, the anxiety (terror, even) of suddenly trying to navigate the world sightlessly, whether because you're a visually impaired person whose glasses have been lost or crushed or because you're a signted person wearing a blindfold for a day as an exercise, isn't really representative of everyday blind life, either.
'Legally blind without my glasses' is a phrase that at best invites inapt comparisons, and in other cases falsely suggests the authority of highly relevant firsthand experience.
It's not the biggest deal in the world. I wouldn't say it's offensive. But it's just not a very clueful thing to say when talking about blindness or talking to blind people.
As someone (actually) legally blind, I appreciate the reply :)
There are blind people like Daniel Kish who use echolocation to replace sight; I get the sense they're more on the difference side of the fence.
As someone hard-of-hearing myself, let me clear up a couple mistakes in this:
1. The Deaf and the hard-of-hearing are not one community. Most HoH people who have sufficient augmented hearing (from CIs, hearing aids, etc) are uninvolved with the Deaf community. (Also, the community is capitalized, like "Deaf".) 2. The protests are still sorta ongoing in the Deaf community. Since most deaf children are born to non-Deaf parents, the parents typically choose treatments to give their infants some hearing (CIs, surgeries, and now genetic treatments), and many of those kids never enter the Deaf community as they grow. Thus, as a culture, the Deaf will slowly age up and die out for lack of replenishment.
I personally think the different/disabled argument mixes two concerns. To the extent that being "different" affords you the same level of dignity as anyone else, and "disabled" doesn't, I'm in agreement. Historically, we have frequently treated deaf/mute/disabled people very poorly until the modern era.
But to the extent that it denies the reality that most people have reasonable hearing, most of the world relies on it, and there exist interventions that can enable hearing, or asserts those interventions are immoral, I'm against it.
And I suspect a lot of this is driven by anxiety of the loss of Deaf culture. Are the limbless criticizing prosthetics? No, because there's not really a separate culture for that.
DB-OTO is a cell-selective AAV gene therapy for children with hearing loss stemming from a mutation to the otoferlin gene.
The otoferlin protein is expressed in the sensory hair cells of the ear, which have tiny cilia that move as vibrations come into the ear. These cells help signal between the auditory nerve and the hair cells, passing information from the ear to the brain. Children born with this type of genetic hearing loss have the hair cells and can detect the signal coming into the ear.
“But they can't get that message from the ear to the brain, basically, because otoferlin is critical to enable that communication,” Whitton explained.
That’s where DB-OTO comes in. The adeno-associated viral vector delivers the gene therapy to the ear to provide a payload of cDNA that expresses the protein in the hair cells that are missing it. The hypothesis was that if they provided the gene, patients could eventually begin to hear on their own.
Regeneron does not yet know how long the effect will last, but “rigorous” preclinical tests were done to get a sense of durability, according to Whitton. Since those hair cells targeted by the gene therapy do not turn over during a person’s lifetime, they believe the effect should be persist once restored.
“The ones that you're born with are the ones you will have the rest of your life, so if we can create a little protein factory in those cells, make the protein that's missing, there's reason to believe that you could have long-term benefit,” Whitton said.
Note this is not CRISPR, its more like just adding little chunks of DNA into the cell (which I think is called upregulation). 'Gene Therapy' can mean many other things apart from Crispr, there's a whole complicated pipeline of processes that can be targeted.
Solid perspective and understanding of bigger picture is important, then nothing can surprise you much.
smashes telescope, grabs another beer, and buys some tickets to visit Spain before going to bed with a little bit less defeat and despair than usual
To plant a garden is to believe in tomorrow. - Audrey Hepburn
Over 92% of Americans have health insurance. The vast majority DO have access to healthcare.
The increase in deductibles and decrease in % coverage throughout the course of my career has been shocking.
That's just a failure of imagination, no? Endless sci-fi stories tell us a better world is possible, including wild genetic treatments curing deafness. Why should that apply to tech, but not society?
Imagine if fucking Ghengis Khan never had to die.
Or Henry Kissinger.
Or Carnegie
Our system is struggling under the immense weight of old leaders and the best they can do is pump themselves full of weird drug cocktails to have some semblance of being alive. Imagine removing the last roadblock to eternal life for the richest human alive.
We might be able to “cheat death” within our lifetimes.
Sometimes the ends are the means.
It won't be in time for us to actually implement unless we're down to our last few embryos through failure. We were able to detect ours because we used Orchid Health to scan the embryo genome for monogenic conditions. But it's exciting to think that novel gene therapies might be accessible if we somehow fail to implant with the other embryos we have.
All this stuff is very futuristic and it's definitely rescued us since my wife and I started dating and got married within the last year, by which time we were quite old.
Very cool stuff from Regeneron.
EDIT: I actually looked this up and got a reading list which I went through over lunch. There's quite a lot of work on this front.
Regeneron/Decibel Therapeutics have DB-OTO and are developing a GJB-2 (the one we have) gene therapy too https://www.decibeltx.com/pipeline/
Akouos has AK-OTO https://akouos.com/our-focus/
There's a Chinese group that claims they had success in older patients (search for AAV1-hOTOF)
The April issue of Molecular Therapy has a few of these. For a quick read look at the Oral Abstracts from the Presidential Symposium. Molecular Therapy Vol 32 No 4S1, April 2024
I believe it's the OTOF variant that affects the cilia growth. Without intending to give any hope (because I am a software engineer in the end, not a geneticist), perhaps the GJB2 variants can be fixed because they regulate electrical function. Who can tell. Decibel's AAV.103 will go into clinical trial in the next couple of years. https://www.decibeltx.com/pipeline/
The cochlear implant is wonderful tech. Before we had enough embryos, it was something that we discussed with our genetic counselor. Is your son still very young? Some of the OTOF treatments were in older children (in China). Perhaps the GJB2 treatments could be too. I am hopeful that even if your children and mine can't access this treatment, we will make this condition repairable shortly after birth from our generation onwards.
That’s unreal. It killed monkeys under similar circumstances and the kid wasn’t at his healthiest at the time of treatment either. Did they not care or was there some reason to believe that outcome was virtually improbable?
BTW, most gene vectors today are based on lentiviruses... specifically, from HIV. It took a few tries before they found a method to reliably remove all the bad bits from the vector. See https://www.nature.com/articles/s41375-018-0106-0 and other articles on the evolution of HIV as a gene therapy vector.
Could you please share what makes you think so?
Note, germline modification means making changes to future children, and all their cells would permanently be modified, and they would pass the changes on to their children. Look at what happened with Jianku He- who ignored all the advice to do this (amazingly, they eventually let him back in the lab).
I had to read that twice. Non-disease purposes?
The term "Gene-therapy" to me means therapy as in treatment of a disease or condition. If we're talking about non-disease purposes like enhancements then you're damn right thats still a long way off. I would have put it further off than that, its going to be a minefield.
(Although with 200 different countries in the world it seems like someone will just do it anyway. Maybe someone is doing it now?)
Like extending lifespan since death isn't seen as "disease", is probably what most people are after.
I’m well aware that it’s very much a first world problem, and rightfully should be very low on the totem pole of medical issues to cure.
But goddamnit, I want to see red.
You know, I’ve never thought of this: does anyone with a type of color blindness consider their “favorite color” to be the ones they can’t distinguish?
The main reason this therapy isn't available is because the FDA has decided that the risks of gene therapy aren't worth the benefit of curing color blindness. I agree with that evaluation, but I also think mavericks should be allowed to try curing their own colorblindness (assuming they had informed consent and paid for the therapy themselves).
But huge changes like a major color might overcome that. Humans learn to recognize new major objects they've never seen before.
If colourblindness glasses (e.g. EnChroma®) work for you, then I suppose the answer is trivially "yes, because it already does" – and we should expect gene therapy to be useful. If there are people for whom those glasses don't do anything at all, I'd be more cautious.
I mean, what's stopping you? This guy cured his own lactose intolerance: https://www.youtube.com/watch?v=J3FcbFqSoQY
But I'm guessing — in part because you say "paid for the therapy" — that you don't really mean "should be allowed to cure their own colorblindness"; but rather "should be allowed to buy a colorblindness treatment from a vendor of such" or maybe "should be allowed to request a prescription of a colorblindness treatment from a doctor who acquires it from a vendor of such."
And you're already also allowed to do that — in theory. The FDA doesn't care about people buying medical treatments. It cares about companies selling them. Because companies are profit-focused, and the quickest way to money in medicine is to lie.
For you to be able to get what you want, there'd have to be an intermediate category that stops just shy of the current "FDA-approved medical therapy" category. For a treatment to qualify for this category, it would still have to pass both safety and efficacy studies. The only thing that would be different, is that the FDA wouldn't weigh the safety vs. the efficacy of the treatment at the end; but instead just put an absolute minimum threshold on both safety and efficacy, and leave the prescriber to determine whether the safety risk outweighs the efficacy.
But think about that word "prescriber." This would certainly allow people motivated to do this to go to their doctors and ask for such treatments specifically. But it would also enable doctors to choose such therapies for their patients, without the patient being previously aware of the treatment option.
And doctors can be bought. (See: doctors prescribing on-patent drugs when equally-effective generics are available; doctors adding on unnecessary adjunct therapies because a sales rep convinced them they should "give it a try"; etc.)
Do you want to live in a world where there's no ability for regulatory bodies to set a safety:efficacy-ratio threshold on a doctor's ability to prescribe drugs to patients? A world where a (bad) doctor might prescribe a drug that has a huge risk for very little chance of success, and all they have to do is put a consent form in front of the patient for the huge risk — without even having to explain the low-efficacy part?
(Honest question. Some people might very well prefer such a world.)
My wife is a neurologist. She deals with this. I’m an anesthesiologist; I just give more as needed because my patients don’t take their own drugs. Almost everything I give is generic, and the exceptions are when those fail.
You can make a very good living as a physician in the US without being a whore. Not worth my moral sense to make a few more dollars that won’t go to me directly anyway. Sure as hell not worth it to her; she’s a hospital employee.
https://www.pharmacytimes.com/view/debunking-a-common-pharma...
Still, these measured %ages should be much more explicit in the actual delivered drugs and in the range of values that are determined safe. There are plenty og drugs where double dose is fine and the therapeutic dose is "let's experiment on every patient evey day to see what works".
Antiepileptics are a very special category of drugs in that respect - they really do need to be right on target every time. I know a neurologist with epilepsy - not my wife - and he takes branded Zonegran. Thyroid hormone supplements are similar although the consequences are much lower (you're not going to accidentally kill anyone in a car wreck if your thyroid hormone is low).
Certainly, but I was mostly referring here not to doctors who actually make more money due to pharma companies; but rather to doctors who are "lobbied" / "direct marketed" to by pharma companies, using steak dinners, free samples (implicitly, to dispense directly to patients without insurance coverage — big in e.g. psychiatry), exclusivity arrangements with HMO boards, and so forth.
There's also the propaganda level: full-page ads in industry publications, biased (but technically unaffiliated) guest speakers presenting at industry conferences as a condition of sponsorship of said conferences, etc.
(My own wife is an optician. If you ignore frames and just focus [heh] on lenses, the optical industry is essentially a specific instance of the "medical device" industry. The number of people from the lens companies who come in to "educate" staff on "relevant use-cases for" their new technologies, but who end up instead trying to feed them specific marketing spiels, is ridiculous. The quantity of submarine product pitches I see disguised as factual content when I flip through her trade magazines is also ridiculous. And the industry-sponsored content that she had to wade through as part of her degree was downright abominable.)
> So if you have a legal, generic drug here, it might be a 120% one, and your next refill might be an 80% one - you just got a 1/3 reduction in dose without warning.
I think you're speaking here of cases where a generic medicine is prescribed directly, which can get resolved to any old (white-label, store-brand?) formulation of the drug on each refill, or especially if you switch pharmacy.
But I was (clumsily) trying to motion at the idea of doctors prescribing an on-patent drug (that can only be manufactured by one company) vs. prescribing any specific brand of a sufficiently-effective, off-patent drug (where the lack of patent creates competition as many major pharma companies release their own formulations, which then lowers the price for all brands' versions of the drug, not just for the generic / white-label ones.)
This is specifically relevant in the case of patent lifetime extension — i.e. the classic https://www.youtube.com/watch?v=I0VIOQ4OpD8 — though also then see https://www.reddit.com/r/patentlaw/comments/16dyvfi/drug_pat.... Regardless of who's responsibility this phenomenon is, it does happen — doctors prescribing (expensive) X+1 rather than (now-cheap) X, because X+1 is now the standard of care... even though X was fine last week.
In this case, though, it's:
> We have this new drug, whose strict required dosing regimen and annoying, long-lasting guaranteed withdrawal effects mean that your patients will be very unlikely to stop taking it... ever... or even to switch medications once they start on it, without your repeated insistence. (They can exponentially taper the drug, but we will never provide instructions on how to do that, nor fund studies on the success rate of doing that. Your medical education will have taught you a linear tapering procedure, that does not work at all for avoiding this drug's withdrawal effects.)
> Here's some free samples that you can use to hook your poorest patients on our drug — you know, the ones you'd normally prescribe generics so that their not-very-good insurance plans will cover them, or so that they can afford them out-of-pocket. We'll be back with more pretty frequently, so if you don't have very many patients, you may just be able to treat some of your poorest patients indefinitely from free samples alone. (But we know this won't work out for you in the long term, as we've calculated what would be enough for a prescriber operating at patient capacity, and we shoot for maybe 1/3rd of that. It'll only seem like a good idea when you're just starting a new practice.)
> Oh, and we also do have an Assistance Program, because we know the insurance carriers refuse to pay for our drug (since it's not considered to be any more effective than the generics... just yet. Our lobbying hasn't fully kicked in yet.) Our Assistance Program will allow those same poorest patients to continue to pay for the drug out-of-pocket once you've hooked them with the free samples, rather than having them convert to the generic. They'll be paying at a painful — but reduced to just doable! — rate. We'll cover the rest. (And still make a profit!)
> It is, of course, a needs-based Assistance Program. We aren't in the business of slicing into our own (huge) profit margin for charity. We're in the business of helping people get over medical stumbling blocks that might be preventing them from being productive, and thus preventing them from getting a high-earning job. Our data says that our Assistance Program acts as an amazing self-funded channel partnership for us, in that it manufactures high earners pre-primed to buy our drug. And of course, we can bilk them for as much profit as we want.
This might not reflect your specialty — this is from my experiences in psychiatry.
But should I be able to do that? Am I capable of evaluating the risks? Am I capable of even enumerating the various risk factors? This is not my field at all. Maybe the person making this for me is doing it in an unsafe manner, in a way that could result in dangerous contamination. How would I know?
This Reddit thread has some interesting insight into just how dangerous it could have been: https://www.reddit.com/r/videos/comments/7x8x3q/dude_uses_ho...
This is why I'm leaning toward a "no" here... I probably shouldn't be legally allowed to pay someone else to make me something like this, regardless of what sort of informed consent form I sign.
In what way do you agree with that evaluation then? The FDA certainly doesn't force anyone to undergo a treatment. And my understanding was the FDA doesn't decide who pays for a given treatment. In particular I don't think they define what medical insurance companies (or Medicare/Medicaid) have to pay for, do they? I think they just say whether the treatment is ethical to be performed at all. So when you say that mavericks should be allowed to try it, I think you're simply disagreeing with them?
But the glasses need to be visibly-differently (to a non-color-blind person) tinted. If they look the same, they're not going to work. Just like a "blue-reducing" pair of glasses needs to look visibly yellow, or it clearly (in all senses of the term) isn't doing anything.
A truly optimal pair would take some sciencing but bashing something prototype-quality with something like https://www.amazon.com/dp/B0928YT83C would be a matter of holding up the cyan-ist of the films up to one eye and the magenta-ist of the films to the other, and looking at some red and green things, concentrating on which eye the object is bright in.
Not that this would give the same subjective experience of a person w/o colorblindness seeing red vs seeing green, but I wouldn't be surprised if it allows one to pass r/g colorblindness tests fairly well?
On the other hand green lights lose their green.
On a day to day basis I can functionally see red and green, but sometimes when a red or a green is next to a brown I cant distinguish them.
And versions of red that regular people might have a hard time distinguishing would be impossible for me to distinguish.
Imagine you're watching a black-and-white movie on an old TV, and it looks kind of washed out. You fiddle with the contrast, and suddenly the movie looks much crisper and with better contrast. You're not actually seeing more colors -- its just grayscale -- but you can optimize it to give you more depth of perception.
That's what EnChroma does. It doesn't actually make you see red, but it heightens the contrast to make it stand out more.
the way i think about it is that people who aren't colorblind have a maximum green value that is much higher than mine. the enchroma glasses, which i've tried, effectively make greens more green. i feel like it makes things inaccurately colored, but exaggerates colors enough to be able to better differentiate. i still can't see past my "maximum green" value though, which is why those marketing videos of people crying are total bullshit. it just looks like a very saturated instagram filter. it doesn't make me see colors i haven't seen before.
i didn't try a color blindness test with them but i should have. the best memory i have of using it is that it was fall time and the leaves on a bush in my yard were turning red, but i had no idea until i put the glasses on, and i could distinctly tell which leaves were turning and which weren't.
i liked them and wanted to keep them, but i couldnt justify the $220 price or whatever it was, so i returned them. i want to get another pair some day
shameful marketing campaign
But imagine this. You put on a pair of pink tinted glasses to fix your vision. Ok great, but everything is tinted now. I don't find it pleasing at all. My normal is my normal, putting tinted glasses on me doesn't make things look better, it looks wrong.
Until you get eyeball cancer, that is. UV is mutagenic. That's why you filter it out.
People with cataracts get replacement lenses, and some exist that don't filter the UV. I think they're hard to get, what with the whole "eyeball cancer" thing. But if I get to my 70s and need replacement lenses (I do have a family history), I'm going to campaign to see if I can spend a couple of decades looking at the pretty birdies.
I guess melanin absorbs UV in the skin, so this serves a similar purpose in the eye?
Does this exist? I thought those kinds of non-linear effects only happen at extremely high fields (e.g. with a very fast pulsed laser to concentrate energy in time)
See also https://en.wikipedia.org/wiki/What_Is_It_Like_to_Be_a_Bat%3F and https://en.wikipedia.org/wiki/Knowledge_argument
I'm guessing they only really get the full effect of the therapy after they've lived without colorblindness for a while and made those associations.
Do you think there's a fundamental difference between getting a new color receptor and training yourself to recognize/differentiate more of the colors you already have the receptors to distinguish?
The guy I worked with who was RG CB couldn't wire up stepper motors (typically use 4 wires, red green blue black), he couldn't tell the difference and had to use a multimeter.
I heard a Radiolab about CRISPR like 8 years ago, and I remember thinking "if this is even half as cool as it sounds, then this is utterly amazing". It feels like a whole slew of disease will just stop being problems, and I look forward to the results of it.
Of course, I'm not a biologist, and I don't really understand any aspects of this stuff, so I have an extremely lay-person understanding of all this, but it seems insanely cool.
Well, here we finally are.
Our ancestors, and I mean great-grandparents and grandparents, would call us gods.
I went into that field and spent a couple decades learning how to do it. My only conclusion at the end was that it would only be considered societally acceptable for diseases, not recreation, for the foreseeable future, and even things that seem "easy" (like fixing retinitis pigmentosa) are in fact fractally challenging. As much as I would like to have chromatophore tattoos, we're just not in a place where we can justify this (even self-experimentation) because it's really hard to know if your intervention had the effect you desired, and no other effects.
I’m an anesthesiologist, though, so “likes to play god” sort of goes with the territory. It’s not common, but there are surgeries where you go on heart-lung bypass, chill the patient down to 30 C, and then stop the pumps. No blood flow. The surgeon does the critical part, you turn the pumps back on and warm them up, and then the body takes over again.
It is absolutely magic.
I strongly doubt this. If technology is there, the path from disease to recreation would be very short once the market is involved. Except at the extremes, whether a condition is a "disease" or "impairment" can be pretty subjective.
Everybody has a problem with people "playing god" until they get paralyzed or a serious illness. Then "playing god" is all they wish for.
That is a quote I heard somewhere and paraphrased.
I was eligible for cochlear implants probably more than 15 years ago, but I was getting by, and I heard that getting implants would almost certainly preclude any future therapy like this. I'm ecstatic to finally hear an actual "it worked, in a human" outcome, and can't wait for something that works for my hearing to reach maturity.
One would think that growing up with a sense is integral to its processing (and filtering) and the sudden introduction of a sense later in life would come with all sorts of side effects.
Little kids hearing their mother's voice for the first time. Friends seeing color for the first time after being given corrective glasses as a gift.
Highly recommended watching.
Normal glasses that correct refractive vision issues are obviously real, and great, I'm certainly a big fan of mine. And while I've never seen it in person, videos of babies seeing through refractive correction glasses are adorable every time.
Those videos you mention are designed to invoke “happy-feelies” to maximise engagement and monetisation, nothing more.
The doctors warned us not to expect any reaction in our daughter like in those videos.
Even so, I wasn’t prepared for just how difficult my daughter’s post-implantation journey was. It took many months before the implants provided even remotely similar benefit as the tiny amount of benefit her older hearing aids could give.
She had to learn to hear all over again from scratch.
This affected her self-confidence, her friendships, her schooling, and was a very difficult time for her.
Those turn-on videos you mention are overly saccharine to make you feel good while having nothing to do with the reality of the situation for almost all cases.
Every day I discover a new way that humanity has disappointed me.
Another example which might seem the opposite for most. I don't personally understand the appeal of stinky tofu (yet). (all over China but most of my experience with it were Taiwan). To me it tastes like a savory tofu dish where someone set a bowl of steaming hot feces on plate next to you while I you eat. In other words, to me, nothing is added by the smell. Take it away and it would be a standard savory tofu dish. But, all of my Taiwanese friends crave this stuff and I think the smell is part of it.
https://www.nytimes.com/2021/06/29/books/review/comnig-to-ou...
I wouldn't read anything into it.
I find I filter more now but I still find a lot of stronger smells to be deeply unpleasant and I don't recall being sensitive like this as a child.
I learned to identify some smells and relate the experience to others but my notes tended to be very basic, especially compared to a friend who was working on his level two sommelier test (who was ruthlessly empirical in his epicureanism so I believe wasn't bullshiting the wine snobbery).
Oddly enough, Salman Rushdie’s Midnight’s Children covers this exact feeling almost in the same way as you describe. If you haven’t read it, I definitely recommend it - it’s a long read but also very enojoyable.
Of course, I still would. It just makes me a bit nervous.
From what I can tell from a press release from Regeneron themselves, they're also working on GJB2 and STRC therapies.
Obviously, there are easy cases: this kind of technique to prevent conditions leading to abject suffering, for example. But, knowing and admiring deaf people makes me unsure about the idea of "curing" deafness, for example, as a goal of medicine.
To answer farther into your line of questioning, though, I'd personally consider replacement reproductive systems "fully functional" only if they allow having children with one's own DNA. If we were to reach the level where someone could get a sex change and then perform the reproductive role of their new sex with their own DNA (except maybe the sex chromosome itself)-- and especially if they could then swap back in the other direction later-- I actually do think that would eliminate a lot of the implicit concerns that make it controversial.
I didn't tell you that you need to want or have kids. I do believe your life will have been pointless if you don't, but you're free (and likely) to disagree with that. Personally, I think "eternal life" as promised by some religions can be analogized as reproduction. If you think you've identified another biological purpose of life, that's good for you.
I don't know why you'd bring sexism into this; it takes two, and both sides are just as valuable. Having biological kids with someone means your DNA's going to be stuck together as a new person, so you want it to be someone you care about. It almost sounds like you're transgender yourself, but most transgender people I've spoken with about the topic would be thrilled to be able to have kids, especially MtF folks on the topic of carrying. I've certainly heard some say they don't care about it (and they have to come to peace with that, regardless), but I haven't heard of anyone saying not being able to is part of their identity.
This right here is part of the problem. You identified that I don't agree with you on the current state of things and picked a fight, rather than agreeing on working towards a place we'd both be happier with, anyway. (Or are you saying you specifically don't want transgender people to be able to have kids? Do you think there'd be something wrong with it if they were able to?) This entire line of argument would be irrelevant if science got to that point. But political and medical will is stalled arguing about half-measures instead. I know science is slow, but I just hope there will come a day when people can make decisions about their bodies without loss of reproduction being a concern-- and not talking about it won't get us there faster.
Your questions about autism and mental illness falls under "eugenics," which is kind of one of the major discussion points of this entire thread.
If it becomes possible in the future to just swap body parts with no issues, it would probably be less controversial, but I don't think it would really be accepted. The problem is the current sex change operations are no where close to that. You can't just flip back and forth and have all your parts remain fully functional.
There is, of course an exception and that is with organ donation. That however only happens when the person who is removing the functioning part does not need theirs which can happen because they are dead, there is an extra one (kidney), or it will grow back (liver). This, of course, is not the same type of thing as we are talking about.
I think, and most people probably agree with me, that cutting off perfectly good body parts is not acceptable regardless if they are your private bits. Bringing up the private bits instead of a generic body part is attempting to make it emotional.
If somebody wants to cut off their healthy foot, people do not find that acceptable. Doctors are supposed to do no harm and cutting off the foot would be doing harm. I think most of us like the idea of doctors being there to heal us, not harm us.
Society believes in restricting what people can do with their body even if no harm comes to others. Maybe you think that is dumb, but most of society disagrees.
Here is an extreme example. We believe drunk driving should be illegal even if nobody is harmed. We don't like that behavior so we ban it. How many people complain about that?
> Don't reproductive rights go both ways?
Of course they don't. Men have no right to abort without the woman's consent. Men also cannot just give up rights to their children if they don't want to pay child support.
What makes you think we as a society want reproductive rights not being universal? Do you want men to be allowed to force the woman they impregnated to get an abortion? If not, then reproductive rights cannot be universal.
Once you start blocking reproductive rights one way you will have a difficult time stopping it in another area. Either men have to be able to give up rights to their children or society should be allowed to restrict other rights.
It sounds like you also have some sort of notion that you have a right to have a kid or something like that. I am dubious of such an argument. Could you explain why you think you have such a right?
> But it all comes back to how useful I am to a cishet guy? Either I'm someone's fetish or a baby-making machine.
Nobody said anything close to that. Please do not read into my statement anything more than the exact words.
The Stanford Children's Hospital [1] will provide surgeries to both minors and adults. It doesn't specify how young the children can be.
The University of Illinois [2] will do surgery on people under 18, but doesn't specify how young the children can be.
The University of Rochester [3] will do some surgeries for people under 18. It doesn't specify the age, but it is under the "Adolescent Medicine" section.
Seattle Children's Hospital [4] will provide referrals for gender-affirming surgery to children as young as 9 so long as they have started puberty.
[1] https://www.stanfordchildrens.org/en/services/gender/what-to...
[2] https://hospital.uillinois.edu/primary-and-specialty-care/su...
[3] https://www.urmc.rochester.edu/childrens-hospital/adolescent...
Here it is explicitly from the Rochester one
>Surgical Services – Referrals and coordination of care (as medically necessary)
>Orchiectomy – Urology (adults only)
>Gender-affirming Top Surgery – Plastic Surgery or Breast Surgery
Are you suggesting a top SURGERY is not a surgery? Why would they say adults only for the orchirctomy but not for the top surgery?
Second, puberty blockers are not always reversible. Please do not spread medical misinformation.
Some disabilities only have one true cure: fix the part of your body that's bad at its job. No amount of accomodation or acceptance is going to mitigate the worst parts of, say, liver disease. But other disabilities have two paths forward: cure the body, or create a world that's more accommodating to people with that disability. Deafness seems like it falls in that category, which is tricky, because both paths have salient points but are also at odds with each other.
The surgery and downtime are no joke, but everyone I've talked to who went through with a replacement was glad they did. I even know at least one guy who now works on his feet all day. Not saying to just take the plunge now, but if you ever do, the outcomes seem pretty damn good.
Good to hear you were able to mostly resolve your issue. Given your name I’m assuming you have ankylosing spondylitis - I certainly see that in joint replacement forums from time to time, often people younger than I at this point who are facing more joint issues than myself.
And yep, spondylitis with a side of hip bursitis, so Perthes hits close to home. Eventually I figured out I have colitis, started to treat that, and the arthritis got 90% better. Also I learned that some people with really aggressive colitis who go on steroids for years wind up with osteoporosis so bad that they need... hip replacement surgery, lol. It all comes full circle!
Why should curing deafness not be a goal of medicine?
I think what OP was referring to was how rich the lives of the deaf can be, and how discouraging it might be to hear "y'know, you're not /really/ experiencing life until you can hear"
If there's a moral sticking point, for me it would be about the cost and privilege it assumes. We still have a very long ways to go before that is figured out...but if we have genius level babies, maybe they can do it for us.
There isn't a height in order to function properly or something like that. If somebody is 5 feet or 6 feet they are still capable of having their whole body function. Yes, they may have issues due to their height but their body still works correctly. (Extreme heights, both tall and short, may cause issues and there could be conversations around that, but within the normal range there isn't any sort of function of the body that doesn't work)
These are all difficult questions, but it feels like we're going to eventually have to put aside our well founded fears over eugenics and confront these serious questions properly. For instance, many places offer the option to test fetuses/parents for markers of serious genetic disease and offer the option to terminate the pregnancy with the argument that the child would either not be viable or would have a horrible quality of life. On one hand this sounds reasonable, on the other hand it's pretty much a level of eugenics.
The difference is usually a matter of informed consent. Eugenics tends to be non-consensual. Sterilization or forced birth control for unwanted individuals. Murder of unwanted individuals. Involuntary genetic modification of unwanted individuals will probably pop up eventually.
Typically gene therapies are on living, consenting people with all the information to make a choice. It also doesn't usually result in germline modification. The sticky part is when you get to babies and fetuses. Can a mother consent for her fetus? What about germline modification? In-vitro gene therapy? Then you are getting into Brave New World territory.
That doesn't make the issues easy. There are some forms of state coercion that people are sympathetic to. For example, in India, there is unfortunately a strong preference for male children, and there are laws to prevent sex selection. This is obviously reducing people's reproductive freedom because there's a state interest in a balanced sex ratio.
Another example of state coercion that people are unsympathetic to is China, where the state had an interest in reducing population growth and imposed a one-child policy. Seems like that's eugenics? It's imposing personal hardship for a population-level concern.
Along these lines, I'm wary of population-level concerns like "will deaf people die out." What could the state do about it? At the individual parent level, nobody should have to raise a deaf child if they don't want to, when it's unnecessary.
But a tough case for the reproductive freedom side is: can deaf parents use prenatal testing to select for deaf children, if that's what they want? That's not a population-level concern, it's personal: specific parents want a deaf child. A lot of people have trouble with that kind of reproductive freedom when they wouldn't have an issue with wanting a boy or girl, because deliberately causing deafness sure seems bad for that child.
I suppose I could be wrong, and this could be the start of Gattica, but I highly doubt it. I think far more likely is that over the next few decades, millions of people will be able to hear who otherwise would not have.
There may be benefits of being 6' over 5' but I dont think that's comparable to deafness.
6' vs 5' is the difference between great hearing and good hearing.
The deafness we are talking about is the difference between having legs and not having legs.
What happens next is that the "regular" humans have to compete with these "super-humans", for example on a job market, or in Olympics.
Or do you mean more people with all their genes switched "on" so to speak?
A gene can be expressed but from what I rember from my college classes....the epigenetics can determine if the gene actually works correctly and how effective it is.
Think of it as the ability to lower the overall expression of the gene
I can't think of anything that started as something to help bring people up to a median level, to then end up bringing median people into a super-human level. Everything we've done so far have all been ultimately limited by the human body, so things that bring people up to the median level ultimately have diminishing returns such that they don't benefit median people so much.
> In 2004, 4.6% of the anti-doping samples tested were positive, and that is taking into account that there were many dopers who never tested positive.
https://lanternerouge.com/2023/03/26/how-clean-is-cycling-an...
Prosthetics may not quite be there yet, but do you seriously think they won't get there?
Military is actively investing in exoskeleton R&D. Whether it's currently accessible to the median person is sort of besides the point.
It might happen in the future, but it's worth considering that a powerful prosthetic limb or exoskeleton that is superior to the biological version in every way makes both the disabled person and the perfectly healthy person equally superhuman.
> a powerful prosthetic limb or exoskeleton that is superior to the biological version in every way makes both the disabled person and the perfectly healthy person equally superhuman.
I think I'm not following, or else failing to see the relevance to this comment. This is essentially what the GP was getting at: these advancements can/will lead to anatomically "correct" humans failing to compete.
I suppose this is just down to interpretation/point of focus.
I was focusing on the 'levels' being referenced. A 'perfect' prosthetic allows all people to be able to reach the same level, while the GP was talking about things that bring below median people to median level only, and previously median people to super-human level.
If we interpret this to refer to competition against people who aren't using any augmentation, it covers even just the act of practicing. Which in my opinion, kind of defeats their point by making it excessively broad.
Imagine that a gene modification is discovered that allows a significant breakthrough in human memory. First, people with Alzheimer would undergo that treatment, to the cheers and applauds of virtually everyone (including me and you). Then the people with a risk of Alzheimer would undergo it, then it would be cheap enough that anybody rich enough could do it. Then imagine that e.g. I undergo that treatment and am now able to memorize all of Wikipedia, GitHub, and Stack Overflow. Then imagine competing against me for a job opening. You can practice all you want but never able to reach that level, because you're limited by genes while I've got rid of that limitation.
The Google guys are extremely well-invested in the bio-tech startups, and Larry the Oracle Guy puts all his money into an "institute for prolonging of human life". No bonus points will be awarded for the correct answer to the question "whose life exactly that institute is working to prolong?"
Examples range from agriculture to the Internet; currently, smartphones seem to be hitting this threshold, as more private and public services become designed primarily with smartphones in mind.
I found it enlightening to ponder the history of clocks. There was a time nobody needed one; it wasn't actually useful for anything[0], because nothing in agricultural societies happened fast enough to require hour or minute accuracy. Some people eventually found use for more accurate and precise time tracking, then more, then those people realized they're able to coordinate better when they have synced clocks, which made new things possible, and few centuries later, our entire civilization runs on clocks, and it's near-impossible to live without minding what time is it.
--
[0] - Use in sea navigation notwithstanding.
The development of clocks is related to industrialization and opening of plants that need all the workers to be there at e.g. 8 am for the shift to start. If you have to be at the factory at 8 am you'd better know what time it is. It's not that the development of clocks has brought us factories; rather, the development of factories has brought us clocks.
FWIW, I'm not saying it's a good development. I'm torn on this. Outside of direct progress, we seem to be running in Red Queen's races quite a lot, as improvements turn into baseline.
This seems a rather dubious claim, for something invented and used for more than 3000 years (see sundials and water clocks - https://en.m.wikipedia.org/wiki/Clock). Uses mentioned incidentally in that wikipedia article seem to include religious observances, astronomy, astrology, watches (as in “night watch”).
Also, as I understand it, the navigation use wasn’t really practical until precise clocks were developed in the 18th century.
But historically the wealthy/first adopters help fuel the continued development of said inventions, which helps drive down the price, eventually allowing the larger public to have access to it.
A pleasantly measured response. For those in the know, has the deaf community calmed down in recent years? I remember a time when they were radically opposed to anything that smelled like a "cure" for something they considered more of an identity than a disability, though I haven't read anything on it in a long time.
Although I think there’s a train of thought that think being deaf is not a genetic deficiency.
Would deaf parents raising a child that is not deaf struggle? Would assimilation into the family unit be difficult?
Personally, I think the level of isolation as a child from their parents would have a certain degree of impact on mental health.
https://en.wikipedia.org/wiki/CODA_(2021_film)
https://en.wikipedia.org/wiki/Sound_of_Metal
And a bad video game:
Yes, there would be a level of isolation. It needn't be extreme, but I can't imagine there would be none
I've known plenty of people and families like that, it was never an issue.
Maybe more connected? If you are using a language that few others know, seems like it would enhance the "specialness"
We can read:
> “So basically, we find the inner ear and we open the inner ear and infuse the treatment, in this particular case using a catheter, over 16 minutes,” he said.
Genes are in cells, right? It seems like what is being said is that this therapy goes in and alters all the cells. The altered cells then keep the alteration. Whatever it is that creates these cells, also knows to create this new type of cell - cos this is not an ongoing treatment.
Anyway explaining whatever technical thing is going on here with the word 'infuse' is a bit simplistic. Can we not have some more detailed information?
Regarding the word "infused", the viral particles are carried in an aqueous solution into the inner ear. The viral particles then do their work on the cells that the solution flows over. So it is literally infused, although that sort of elides the bit about the virus actually delivering the active bit of the treatment: the new gene.
But also cells die - all cells are new in the human body after 7 years, right? (Or are we saying ear cells don't?) New cells are produced. Whatever creates new ear cells, needs to know to produce them with the update. I know that marrow creates blood cells.... and I'm not sure how replacement ear cells are created, but if it were something like marrow, this creating piece too that makes new cells also needs to be updated, right?
I have other questions too - eg does this viral deployment really impact every cell? You'd think that the ones nearest would get done repeatedly, whereas those that are less local would never be updated.
Also, if this infusion were to be near reproductive cells, would it also update those cells, so that cells used is reproduction would be updated, and the line would be permanently edited?
Anyone who understands the treatment, do you know if the reverse is possible too? I have hyperacusis and could benefit from deafening, esp if it's easily reversible.
The best we have now is disrupting the ossicular chain. Other than surgical risks, it's not fully reversible.
That could be problematic, couldn't it?
However the vehicle being used (viral) could be used to carry a different payload which enables regeneration of the cells it targets. This research has proven they can get to the place which is important.
Though remember hearing is comprised of many things, auditory nerve, SGC, axons, supporting cells, INC and outer, not to mention a healthy environment for which hearing cells 'bathe' in (Perilymphatic fluid).
The research is ongoing, I often hoped there was more advocacy groups to help increase government funding in this area as it's a condition soon to affect us all because of age.
First, many deaf people feel an immense pressure to fit into hearing society. I know in my mom’s case her hearing parents refused to teach her sign language because they wanted her to fit in with hearing people. This is a pretty common experience for deaf people and one that many of them hate (my mom included). My suspicion is that to the deaf community things like gene therapy might feel like another way to force them to fit in instead of being themselves. No idea if this is actually how deaf people feel, but it is an educated guess based on what I’ve seen in my family.
Second, many in the deaf community don’t view deafness as a disability. I think it’s viewed as a gift of sorts. There’s even a term for it called “deaf gain” (a play on the phrase “hearing loss”). Basically, many deaf people think being deaf is a positive and not something that needs to be cured. So, the idea of curing deafness with things like gene therapy is very controversial in the deaf community.
Third, the deaf community has its own culture. For instance, there’s different social norms that are unique to deaf people (e.g. if you want to get someone’s attention you flick a light switch on and off). One of the fears of the deaf community is that if deafness is eliminated then the culture disappears. So, in many deaf circles, things like gene therapy are viewed as an existential crisis. I’ve even heard things like this likened to cultural genocide (which is a bit extreme) because of its threat to their culture.
So due to these reasons, I can’t see this treatment actually being popular with the deaf community. There’s already a huge emphasis within deaf families to not use cochlear implants on their kids due to it being viewed as a bad thing. As a result, I think it’s unlikely those same families will opt for gene therapy. I think most of the cases you’ll see of gene therapy being used are deaf kids whose hearing parents decided they need it or with the subset of deaf adults who don’t share the views of others in the deaf community.
I would not be surprised if ADHD and other things are next. One of the prime aims of technology is in fact to erode independent communities because they are one of the few that can speak out against technological development (e.g. the Amish).
EDIT: I was incorrect. It seems that the virus doesn't actually does not insert itself into the genome. Instead it forms a circular DNA loop (episome) in the cell that is like an extra chromosome. The normal DNA reading machinery can make RNA from the circular DNA loop just like it can from a normal chromosome, so you get working proteins. The benefit is that you don't risk inserting the viral DNA into a normal chromosome at a spot in the DNA sequence that would break some other protein. This is the main difference from CRISPR. CRISPR is designed to directly alter genomic DNA.