Deaf girl is cured in world first gene therapy trial(independent.co.uk)
independent.co.uk
Deaf girl is cured in world first gene therapy trial
https://www.independent.co.uk/news/health/deaf-cure-girl-gene-therapy-b2541735.html
350 comments
It might be the condition I have, otosclerosis, where the bones of the middle ear fuse. The surgery, a stapedectomy, involves removing the bones and replacing them with a metallic prosthesis. Unfortunately, in my case, the calcification is also happening in my cochlea which means that at some indeterminate time in the future, I will end up losing all hearing. Not to mention that even with the prosthetic, my hearing isn’t 100% so I have a difficult time understanding speech. There might be some gene therapy that can remedy things, but I think what I may be hoping to see is the ability to grow a new inner and middle ear from stem cells and transplant them into my head, but I suspect that at age 55, I won’t see this happen in time for me.
I had no idea that was possible. If you'd asked me, I would have guessed that it wasn't.
Astonishing. Sorry it's not a permanent fix for you, but it's impressive as hell that they could do anything.
Astonishing. Sorry it's not a permanent fix for you, but it's impressive as hell that they could do anything.
I was recently diagnosed with otosclerosis, have you found a hearing aid that works best for otosclerosis, my Doctor mentioned that most hearing aids don't work well for low frequency loss.
I have moderate to severe hearing loss mostly in the low frequency region from otosclerosis...I use Widex Moment 440s BTE with custom ear moulds. They sound fantastic. My only complaint is that require a necklace pendant to get Bluetooth connectivity but other than that I love them. They're expensive but worth every penny IMO.
Thank you to share about your personal experience. Will a cochlear implant help for your condition?
It will, but with the caveat that hearing with a cochlear implant is (at least at current technology levels), inferior to hearing with an actual cochlea. So there’s a balancing act where they want to continue having me hear with my cochlea as long as possible. The other problem is that with a CI, I have no hearing at all without the receiver which means that I would be completely deaf while swimming, showering, etc. while I have at least some hearing without my hearing aids right now (although I had an ear infection in December which left me completely deaf for a week. It was a bit startling how much people were unwilling to engage in the smallest adaptations for me—I found how to set up live transcriptions on my phone and I remember the cashier at the grocery store being unwilling to use that so I could see what she was saying).
(With the live transcription feature, I was actually able to engage in normal-ish telephone conversations, maybe even a little more effective than I can with using the audio.)
Those torps are pretty cool but they can get dislodged. I got one in college but I think the benefits for me didn't last more than a year or two. I'll try again someday because my nerve hearing is excellent, it's only my conductive that is poor.
Another viable future tech for this might be neural implants similar to Neuralink. Not sure how viable it would be.
They already have those - called cochlear implants (CI user here)
Hello fellow CI user!
Did your sense of taste change after your surgery? My sister is considering a similar procedure and is concerned that everything could start tasting like hot garbage.
No, I had a bit of dizziness for the first day or so, but otherwise there were no side effects. Absolutely no impact on my sense of taste.
>> so excited because future kids won't have to endure the same.
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.
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.
The deaf community is incredibly proud. I have a lot of respect for that. But at the same time, I don't understand it. I'm extremely visually impaired, and I've never seen the same "It's not a disability!" sentiment mirrored in the blind community. Does anyone have any insight why this might be?
The Deaf (capital D) community has its own special language. There's a lot of culture that comes out of that. On the other hand, the blind community has the same languages as the rest of us.
Plus in a motor vehicle driver's world, blindness presents a much more serious problem for mobility, which makes 'the blind community' more diffuse. Blind people are, unfortunately, often relatively socially isolated.
I do suppose that makes a lot of sense. I imagine it's twofold, too: having your own language probably instills a sense of community, which is heightened by the isolation one feels from being so disconnected from so many other communities (including society at large)
Probably because in humans sight is the primary sense and hearing secondary. Deaf people face a lot of challenges, but not nearly as many as blind people (amd I say this as someone with -10 prescriptions, which is close to legal blindness without my glasses)
I think some of this is just a matter of adapting to the bodies we have (we've never had great vision), but my sister and I, who are slowly losing our sight, both agree that we'd rather go blind than go deaf.
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.)
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.)
> 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
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?
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?
Because the experience of someone whose impaired vision is fully corrected gives little to no special insight into what it is like to be blind.
(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.
(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.
Deaf ASL users have much less need to hear since their language doesn't require it. For that reason I suspect deaf folks generally find hearing less important than blind folks find seeing.
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.
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.
> there was a brief protest by the deaf and hard-of-hearing community
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.
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.
Brief? Many are still strongly against it, especially doing this very invasive surgery on babies.
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The impact of medical advancements on individuals and families, the hope they bring for future generations...
How it actually works (from https://www.fiercebiotech.com/biotech/little-protein-factory... )
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.
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.
Sorry just wanted to clear this up - do you mean it delivers an extra set of DNA that does its thing alongside what is already there, rather than editing the main sequence like CRISPR wants to?
Yes, cDNA is a DNA fragment that does not interact with the patient's DNA in this treatment.
Wikipedia:
"Once amplified, the sequence can be cut at each end with nucleases and inserted into one of many small circular DNA sequences known as expression vectors. Such vectors allow for self-replication, inside the cells, and potentially integration in the host DNA. They typically also contain a strong promoter to drive transcription of the target cDNA into mRNA, which is then translated into protein."
The usual term for this is "nonintegrating" meaning the virus (or whatever delivery mechanism) does not insert itself (or anything) into the cell's genome. (Some viruses do this to help them proliferate - and they do it crudely which increases cancer risk, - but some don't because it's added complexity to have this "feature".)
https://pubmed.ncbi.nlm.nih.gov/28895845/
https://pubmed.ncbi.nlm.nih.gov/28895845/
Medical science is about the only thing in modern life that consistently delivers hope. While all the other terrible things are going on, something like this comes along and I’m just extremely happy to be alive right now.
Serious suggestion: try gardening.
To plant a garden is to believe in tomorrow. - Audrey Hepburn
To plant a garden is to believe in tomorrow. - Audrey Hepburn
Funny because I feel the opposite. Health care is so broken with all the politics, insurance, bureaucracy, financialization, etc that the vast majority of people are not able to reap the rewards of progress. Even the science is perverted because of bad incentives and only potentially lucrative research is funded.
I was about to say we pay for all this super modern progress by making healthcare so expensive it's out of reach of the vast majority of people in the world (and in the US).
https://www.census.gov/library/publications/2023/demo/p60-28...
Over 92% of Americans have health insurance. The vast majority DO have access to healthcare.
Over 92% of Americans have health insurance. The vast majority DO have access to healthcare.
It couldn't exist otherwise. The privileged will always be the ones to push the boundaries of any endeavor, medicine included. Have hope that those rewards continue to work their way down, even though the process is long and arduous.
> It couldn't exist otherwise
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?
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?
Name one story where privilege doesn't flow from the top down. That's not a story, that's a fever dream.
Astronomy is cool too, nothing anchors you back in reality like realizing how absolutely microscopic and insignificant our entire mankind's existence was and is.
Solid perspective and understanding of bigger picture is important, then nothing can surprise you much.
Solid perspective and understanding of bigger picture is important, then nothing can surprise you much.
Personally, I find astronomy quite depressing. Learning that humanity is stuck on this rock; at least for my lifetime if not forever. As a kid I dreamed of exploring space. As an adult I learned that is impossible.
I always knew I would see the first man on the moon. I never dreamed I would see the last. -- Jerry Eugene Pournelle
The term "observable universe" is depressing enough for me.
"Welp, that's enough of looking at tens of thousands of places I'll never see up close."
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
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
I think this is why the skyrocketing costs of healthcare in the US are so upsetting to me. Its sucking away the hope by putting so many of these technological miracles out of reach.
The high Healthcare costs in the US are caused mostly by high physician salaries though, and that's probably highly correlated with why they are able to make all these breakthroughs
Last I checked, physician pay represents a fairly small (single digit) fraction of healthcare expenditure. If I recall right, administrative overhead and insurance is significantly more of a contributor to pricing.
Do you have a source for that? Physician salaries do not account for all that large of a portion of healthcare spending. A $300,000/year doc performs a lot of procedures annually, and the amortized amount isn't huge compared to other costs.
medical science is providing hope for existence
Yet shitty LLM grift research proposals receive 100x the funding compared to endeavors similar to this.
Molecular Biology research is much more funded than computer science. At least in Academia.
What's the end goal of modern medicine though? Immortality? You can perhaps reduce suffering to nil, but you can't cheat death.
What's the end goal of this remark? What's the end goal of learning to farm and produce food even when the weather and pest gods don't bless you this year? What's the end goal of learning to heat your hut instead of dying every winter?
Why can't you cheat death? Excluding accidents and the like.
Because it will utterly end all societal development.
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.
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.
People would develop in different ways if they could live to be 1000. It would hardly end societal development. I imagine education would be a bigger deal, since you'd be in less of a hurry to get on with life at 18. Families would be larger as more generations were included, which could create more nurturing and supportive environments for at-risk children. You'd also have fewer trust fund babies living off of the inheritance from a dead relative. And the sheer amount of brainpower and life experience we lose every time a 90 year old dies is depressing; science, technology, and literature could all benefit from people living longer.
Even if you solve for immortality, that wouldn’t mean you will have solved all of the medical ills of humanity.
We might be able to “cheat death” within our lifetimes.
We might be able to “cheat death” within our lifetimes.
What is the purpose of this question? "Yeah sure, we're fixing people's problems that cause pain, suffering, loss of productivity, death, etc, but what is the ultimate goal?"
Sometimes the ends are the means.
Sometimes the ends are the means.
I mean... Let's cure cancer and then worry about the end goal.
It would be nice if people at these companies were rewarded the same way as food delivery app employees.
You want the people at these companies to get a 3 dollar tip each time they restore someone's hearing?
???? I would imagine the average surgeon is much happier with their compensation than the average DoorDasher. It's a reliable fixed-rate salary vs wondering if you'll get enough $3 tips to make rent this month.
Maybe gp was referring to the coders who work at said companies. I don't even think the individual dashers are employees.
Yes. Maybe this is an unpopular opinion, but I don't think doctors are overpaid. The amount of time and effort they invest in undergrad, sometimes additional college after that, medical school, residency, and sometimes a fellowship is more than I've ever been willing to put into my career.
I can assure you that regeneron pays very well, including significant equity and has absolutely fantastic benefits. Software developers probably get more at door dash (it isn't bad by any means, but they aren't "the talent" at regeneron after all), but folks involved in the science and trials are doing very well.
I thought Zaphod came in six-packs, baby, so how can you be zaphod12?
... Food delivery app employees get shitty rewards in proportion to their work as well?
My wife and I are selecting which embryos to implant because we have a related condition (this one is a mutation in OTOF, we have one in GJB-2). Being able to implant the embryos affected with this condition (carrying two copies of the gene - mine and my wife) would increase the number of viable embryos we have by 50%.
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
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
You are lucky to know ahead of time about your respective mutations. We didn’t (no family history and both asymptomatic carriers) and my son was born bilateral profoundly deaf (connexin 26). We have chosen the path of cochlear implant (which is an amazing technology). We are both looking forward to seeing advancements in therapies for GJB2 mutations sparing many parents (and children) what we have been through. However, corrective therapy for GJB2 might require much earlier discovery of the issue and earlier administration I believe, as usually those variants affect actual physical growth of hair cells in the cochlea.
Yes, we are fortunate to live in a time where the technology is advanced enough to do this. My wife and I got ourselves sequenced before we decided to have a child (that's just data nerd nonsense) and when we discovered this we went through the whole shebang.
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.
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.
I don't have anything to offer about your comment, but good luck! We did in-vitro and it was a long, stressful, expensive process. I hope you're successful and find parenthood to be fulfilling and joyful. (Ours is in Kindergarten :) )
Thank you very much and congratulations! We have 4 unaffected embryos and 2 affected ones, so I'm quite hopeful.
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Gene therapy has been an extremely slow game. Part of that is ethics, and part of that is technology. A single death in a single trial slowed down gene therapy for decades https://en.wikipedia.org/wiki/Jesse_Gelsinger
I dedicated much of my biology training to learning how to carry out gene therapy only to conclude that it will continue to be the underdog in disease therapy for a long time. I do not expect to see large-scale germline modification for non-disease purposes in my lifetime (another 20-30 years).
I expected to read that and find it was a fluke accident. Instead, it reads like the scientists shrugged before the injection and said, “What’s the worst that could happen?”
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?
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?
I honestly don't know what they were thinking.
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.
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.
Bioethics is a lot stricter than you think. They did not simply shrug and say that.
One good thing about this specific case is that it only persists in the cells exposed to it. New cells and reproduction are unaffected, which helps with the ethics surrounding gene therapy.
I do not expect to see large-scale germline modification for non-disease purposes in my lifetime (another 20-30 years).
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?)
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?)
> If we're talking about non-disease purposes like enhancements
Like extending lifespan since death isn't seen as "disease", is probably what most people are after.
Like extending lifespan since death isn't seen as "disease", is probably what most people are after.
> I do not expect to see large-scale germline modification for non-disease purposes in my lifetime (another 20-30 years).
Could you please share what makes you think so?
Could you please share what makes you think so?
Two lines of argument: social opposition (people are scared by the technology and many religions strongly oppose human GMO) and lack of adequate technology (we couldn't actually make a permanent change that does what we want without side effects).
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).
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).
So you're only pessimistic about the deployment of germline modifications rather than therapies like this?
You missed the part where I'm describing germline modifications for non medical uses. Like, intelligence augmentation for your children. Very controversial.
Public acceptance of those modifications could increase if such treatments are marketed as new or alternative approaches to what the cosmetic surgery and erectile disfunction treatment industries are making money off today.
Do not underestimate the entrepreneurial spirit when there is a profit to be made
I’m optimistic that at some point, I’ll be able to get a treatment to take care of my red green color blindness.
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.
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.
I am really curious what the subjective experience of a color-blind person undergoing gene therapy gradually being able to perceive the difference between two colors that previously appeared the same.
See also https://en.wikipedia.org/wiki/What_Is_It_Like_to_Be_a_Bat%3F and https://en.wikipedia.org/wiki/Knowledge_argument
See also https://en.wikipedia.org/wiki/What_Is_It_Like_to_Be_a_Bat%3F and https://en.wikipedia.org/wiki/Knowledge_argument
Small tangent, but I first learned of the "What is it like to be a bat?" question via the book The Mountain in the Sea by Ray Nayler. Really good book that deals with the ethical problems of emerging sentience in a species of octopus, while set to the backdrop of climate change, sentient AI and overfished oceans.
I guess the person would have no associations with the pure color red. Non-colorblind people have a life full of memories where red is associated with blood, lipstick, flushed cheeks, race cars, etc. plus the associated feelings.
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?
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?
I think most people misunderstand color blindness in that most red-green colorblind can see red, it's just muted. I know what red looks like, but it needs to be plain old bright red.
protanopia: can't see red. protanomly: some red is visible.
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.
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.
Red is a great. I hope that it would be like the reaction videos of kids having their Cochlear implant turned on for the first time.
I'm not attempting to speculate, I'm just saying I wonder what the subjective experience would be like. I stopped trying to think what it would like to be a bat a while ago.
I don't really know enough of the medical details - I thought people with color blindness lacked the proper receptors in their eyes, so it's not like in the article where a connection is restored; you'd have to grow new infrastructure in the eye which seems a bit more complicated. Nevertheless, would be very cool if possible - I know lots of men with color blindness.
In color blindness, the cone cells produce an incorrect opsin protein that isn't sensitive to red (or is sensitive to a frequency close to green). Gene therapy would fix that, though it'd probably take a while for the brain to understand the new information.
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).
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).
> 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).
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?
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?
The 'though it'd probably take a while for the brain to understand the new information' is an interesting question; on one hand people say you need to fix stuff early in development while the brain is still very plastic (so great for this kid); but then again there is that demo of people getting used to vertically flipped vision with weird glasses; so perhaps something is flexible?
The brain is good at re-mapping things where it can make a distinction, but it seems to only learn distinctions in so-called "critical periods". See doi:10.1038/228477a0 for a famous 1970s experiment on the subject.
There are lots of examples. Phonemes for language and are a very common example of things that can't be learned easily or at all later in life.
But huge changes like a major color might overcome that. Humans learn to recognize new major objects they've never seen before.
But huge changes like a major color might overcome that. Humans learn to recognize new major objects they've never seen before.
Humans can learn to recognise new sensory modalities, too (see paragraph 4 of doi:10.3389/fnhum.2019.00443's introduction) – but only if there's hardware that responds to them. The question is whether the visual cortex is capable of making the distinctions.
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.
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.
yeah I'd be pretty surprised if your brain didn't figure it out in a week.
Could you provide the ref/details of this particular gene therapy and FDA views? I can understand why the FDA wants to move ahead slowly unless the condition is life-threatening or the impact is life-changing.
> 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).
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.)
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.)
FWIW, doctors usually specify brands over generics when it actually matters if you have the same supplier every time. Bioavailability of generics is +/- 20% compared to the original branded drug by law in the US. 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. And if you have seizures? That’s a bad thing.
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.
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.
True but it's not ±20%, it's "90% confidence interval of the mean is within +25%/-40%" which puts the dose much closer to 100% in practice.
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".
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".
Thanks, that's good to know.
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).
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).
> 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.
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.
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.
I guess it works, but honestly this is standard operating procedure in every other business in the world. I can pay for a steak dinner myself; a “free” one that my wife can’t attend isn’t worth much to me. Samples, now, that’s getting to the heart of it. But, again, that’s how most businesses operate. Here’s a small freebie or a cheapie, if you like that, we can sell you a lot more.
> But, again, that’s how most businesses operate. Here’s a small freebie or a cheapie, if you like that, we can sell you a lot more.
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.
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.
That's a really tough one. I just watched the lactose intolerance fix video you linked. Certainly that fabrication process is beyond my ability. But, after more of my own research, maybe I'd decide I want to pay someone else to produce the therapy for me. (I'm not anywhere near as lactose intolerant as the guy in the video, but it's bad enough that I'd be happy to rid myself if this problem.)
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?
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?
I was blown away when I first saw the video, but he's completely reckless.
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 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...
Yep, and there it is -- I'd have no idea watching that video the risk mentioned by the top commenter there about the possibility of getting cancer for doing something like that.
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.
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.
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It's the cones in the eye -- they have a defect and make them less receptive to red wavelengths. If you gene-edited them, you could have new cells without that defect.
And I want to see UV like our proto progenitors,
enough of these little brown birds we can't tell apart.
The problem there isn't your receptors, which are UV sensitive. The problem is your lens, which filters it out. Remove the lens and you can see UV just fine.
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.
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.
Are you eyes more sensitive to UV than the rest of your body?
I guess melanin absorbs UV in the skin, so this serves a similar purpose in the eye?
I guess melanin absorbs UV in the skin, so this serves a similar purpose in the eye?
I'm not sure about more sensitive, but I know the immune system (which cleans up a lot of pre-cancerous cells before they become a problem) is much less active in the eyeball, so it probably pays to have extra defense against cell damage.
"Sensitivity to light" is the primary function of the eye.
It's not just cancer right? UV light will damage those sensitive photoreceptor cells, so you would end up seeing less and less of anything over those couple of decades. Even non-UV blue light is hard for the eyes to deal with. Personally I'd just prefer wearing glasses that shift the UV to some other part of the spectrum.
> Personally I'd just prefer wearing glasses that shift the UV to some other part of the spectrum.
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)
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)
No, at least not without active electronics.
Fluorescence?
Going to reply to myself since I searched for it on a whim..
https://www.sumita-opt.co.jp/en/products/lumilass.html
This implies that birds don’t get eye cancer even though their lenses are different. I wonder what their protection is
At a guess: they don't live long enough for it to outweigh the benefits. While there are exceptions, wild birds often live only a few years.
Have you tried color blindness glasses (e.g. EnChroma)? I am not familiar with them but some reaction videos were pretty heartwarming.
I have, yes. I can describe it sort of like this:
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.
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.
That's what I imagined it to be, a slight improvement but obviously no miracle.
So, does it just look like different green? Like still green, but you can tell it apart from "true" green? Like wearing them could you pass a colorblind test even though you still can't see red?
i can see reds and greens, but very similar shades next to each other, i can't tell. i also can't see either color very well when it's a really small sample size (for example, the green under my power switch on my wireless mouse to show that it's on).
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
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
Those videos are fake the glasses don't do very much.
https://www.youtube.com/watch?v=RY-NF_7R-pk&t=559
https://www.youtube.com/watch?v=RY-NF_7R-pk&t=559
Im red green colorblind. When wearing my enchroma, some things I thought were brown are actually very red.
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.
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.
Colorblind person here. This debunking video is piling on more BS, like oh, colorblind people learned to be amazing at detecting slight color changes! No, we are not. We learned what names are attached to what color, but we see them differently, much poorer (save for blues). Enchroma apparently helps with separation, as parent comment suggests. That being said, the fake dramatic videos are definitely shameful scam, agreed.
What boggles my mind a bit is that true colorblindness glasses don't seem that difficult to me. Standard red-blue 3d glasses almost do it, it's just you need red-green differentiating glasses. I don't think this would Open the World of Color!, but it would with a bit of practice probably allow you to at least perceive a difference.
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.
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.
RB 3GD glasses remove color to create a different image. I don't see how that would generalize to add color.
If one removes red while the other removes green, then if something looks dark through the lens that blocks green, and looks bright in the one that doesn't block green (but blocks red), then one could tell that it is green. (and visa versa for something red)
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?
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?
It wouldn't. It would subtract, but differently for each eye. Differential subtraction between two eyes is not addition, but it has certain characteristics in common with it.
Well that was eye opening
> but some reaction videos were pretty heartwarming
shameful marketing campaign
shameful marketing campaign
I've tried them, they kind of make reds pop a little more.
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.
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.
Im the same way with my keratoconus. Tired of seeing two balls in tennis, two red lights at night, etc.
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If it makes you feel better, red is overrated.
I think it's rated pretty appropriately.
I think whatever it is rated, by definition, is the appropriate rating.
Sure. Green though? It’s the best.
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?
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?
I hope CRISP and gene therapy are going to be the watershed moment in medicine that they appear to be.
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.
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.
Every time I hear about a new medical discovery or treatment, I think "yeah right, maybe in 15 years".
Well, here we finally are.
Our ancestors, and I mean great-grandparents and grandparents, would call us gods.
Well, here we finally are.
Our ancestors, and I mean great-grandparents and grandparents, would call us gods.
I have profound hearing loss (sensorineural) in both ears, and I've been following gene therapy in all of its fits and starts for almost two decades. I was lucky enough to have _not horrible_ hearing at my youngest, and then lost it progressively up until I rely entirely on lip reading for conversation.
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.
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.
It is interesting to wonder if they'd call us gods in a good way though. Perhaps they might see it as 'playing god' instead. HN being a techie crowd tends to skew this a bit, but it's worth remembering that genetic engineering is still pretty controversial to the average person: https://www.pewresearch.org/internet/2022/03/17/americans-ar...
When I was 18 (early 90s) and applying for university, the admissions office asked me what I wanted to do and I said "play god with DNA". Sure it sounds arrogant, but I knew that gene therapy would become a thing and if it worked, eventually people would apply it recreationally (by which I mean, to change your phenotype, or your future children's phenotype, for non-disease purposes).
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 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 about your age, but holy hell, if I had been an admissions officer, that would have sold me on you.
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’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.
"My only conclusion at the end was that it would only be considered societally acceptable for diseases, not recreation"
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.
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.
Those who suddenly got eyesight or hearing would call us gods in a good way.
Everybody has a problem with people "playing god" until they get paralyzed or a serious illness. Then "playing god" is all they wish for.
Everybody has a problem with people "playing god" until they get paralyzed or a serious illness. Then "playing god" is all they wish for.
I'm an anesthesiologist, which curiously enough is a lacuna in pretty much every religion that has opinions about medical treatment. Oh, it's not okay to take this drug or that one, but you're totally fine with being in a medically induced coma? Whatevs, bro.
Caveman brains, mediaeval institutions, and godlike technology. What could possibly go wrong.
That is a quote I heard somewhere and paraphrased.
That is a quote I heard somewhere and paraphrased.
What always interests me with stories of people hearing or seeing for the first time in their life, what is it like to gain a new sense?
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.
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.
I started smoking as a teenager and almost entirely lost my sense of smell. I later spent years working in cafes and bars and did a lot of food and beverage tastings where I used my limited sense of smell to the best of my ability and got pretty good at it. Eventually I met my favorite person, who didn't smoke, so I quit and over the course of the following weeks it felt like I was regaining my sense of smell with owed interest. I found out my city smells like shit and piss, flowers can have powerful aromas you smell from some distance, and some smells had become physically distressing to me. At one point I went to my favorite person's house, commented that it smelled like old grapes when they opened the door, and found out they had burnt a scented candle called champagne dream hours ago. At the height of it I thought I would eventually learn to smell the future.
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).
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).
Wow! There is a great gag in latest Star Trek where Spock reveals that Vulcans need to medically suppress their smell near humans because we just stink to their sensitive noses.
Here is another reference from Enterprise with T'pol:
https://www.youtube.com/watch?v=tIYsVBaYNSU
It's a recurring thing in Enterprise, Archer's pet dog Porthos also bothers T'Pol at one point. I'm not sure but I think Enterprise was the one that introduced this aspect of Vulcans.
Babylon 5 had that with telepaths who sing songs to block out the noise of human thoughts.
> At the height of it I thought I would eventually learn to smell the future.
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.
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.
I have extreme vision loss, and the idea of gaining full vision has always scared me a little. It seems like such a huge change in my perception of the world would be... jarring.
Of course, I still would. It just makes me a bit nervous.
Of course, I still would. It just makes me a bit nervous.
This must be a similar feeling to the feeling of being a parent and the thought of hearing your kid talk for the first time. For some reason, with my kids, it was partly excitement and partly dread. I can’t explain why. It’s something like… it’s such an overwhelming thing to imagine that it’s frightening.
If I could just finally achieve a true kundalini awakening, then I could tell you.
I had a chronic stuffed nose into like the 2nd grade. So when I started taking steroids for my nose, I was able to really smell for the first time, and started noticing cooking smells. Overall, kind of meh, missing out on smell is mostly not a big deal. Smell is useful to detect odorants added to dangerous gasses and to know when the cooking is done if your smoke detector is too far from the kitchen, and it can help detect spoiled food (but visual inspection usually works too), but like I don't feel like my life was worse before I could smell, and there definitely wasn't a big step change improvement.
I think someone going from normal smell ability to no smell ability might feel differently. One of the top joys in my life is eating and a large portion of that experience is smell. Take it away and I'd expect to lose a lot of what I enjoy. Not just as I eat it but even before, the smells of prep. Smelling garlic being fried or the stink of shrimp paste knowing delicious things are arriving soon. The smell of baking bread that makes my mouth water. Etc....
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.
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.
NYT has an excellent summary on it. Life becomes very hard when they try to use their new sense in any meaningful way:
https://www.nytimes.com/2021/06/29/books/review/comnig-to-ou...
https://www.nytimes.com/2021/06/29/books/review/comnig-to-ou...
This is not at all a summary, it's a book review and it is based on 4 hand-picked examples.
I wouldn't read anything into it.
I wouldn't read anything into it.
Not sure what's that supposed to show? n = 5 and the results just 5 days after the first survey were extremely positive.
There is an entire class of YouTube video of the first moments that people see color, or hear, and it is absolutely, without question, the most joyous and wonderful class of video out there. Just so many happy tears.
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.
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.
Unfortunately most of those videos about the glasses are basically staged. Some of those companies have gotten in trouble for making false claims.
It truly is sad if that is the case that those videos are staged, but, anecdotally, I worked in the eye glass business (lab manager) to pay for college back in the day and I assure you, I have personally seen babies see their parents for the first time clearly and there was plenty of tears to go around.
Yeah, to be clear I was specifically referring to videos of people reacting to the glasses that supposedly let colorblind people see color. I think EnChroma is the big name in that space. I didn't specify "color correcting", because that was the only kind of glasses mentioned in the GP comment.
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.
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.
Wow I had no idea. I didn't realize it was possible to become even more cynical about the bullshit people will get up to for a couple bucks.
As the father of a deaf girl who had cochlear implant surgery a few years ago, I despise these videos for misleadingly representing the reality of the situation for most patients.
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.
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.
As someone who has had cochlear implant surgery myself, that is 100% true. Luckily as a member of the Deaf community I knew full well what to expect so I didn't expect to hear straight away and just looked forward to taking my time learning how to hear. Even now I still can't hear 100% (and will never be able to) but that is fine as I still use our national sign language which will always be the language I can communicate best in. It took a bit of adjustment for the hearing members of my family. Even though I kept explaining I won't be able to hear perfectly from day 1, it was still a shock for some who realised the switch on was only the start of an incredibly long journey which I am still on. Ironically, only those who had deep involvement in the Deaf/sign language community understood exactly the reality of cochlear implants -- showing that even with medical advancements, the Deaf community is still an important part of any Deaf person's life and sign language will remain a useful toolkit for all Deaf people.
Wow I truly had no idea about this. Thanks for sharing your personal experience and setting the record straight. I wish you and your family nothing but positivity and good luck in life.
Every day I discover a new way that humanity has disappointed me.
Every day I discover a new way that humanity has disappointed me.
I'm excited to see possible parallel applications of this therapy for other hearing-loss related gene mutations such as GJB2.
From what I can tell from a press release from Regeneron themselves, they're also working on GJB2 and STRC therapies.
From what I can tell from a press release from Regeneron themselves, they're also working on GJB2 and STRC therapies.
Can you point me towards more info on GJB2 therapies? This is the cause of my son's hearing loss.
As a disabled person, I admit to being made slightly uncomfortable by the uncritical framing of genetically modified people as "therapy" that all people should want. Where is the line between "gene therapy" to eliminate differences (such as deafness) and eugenics? If we have statistics that taller people have better outcomes in life, should we do gene therapy to make sure everyone is taller than 6'? How much diversity of human experience is too much?
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.
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.
At the same level, it's worth considering the effect on society. Western society (and increasingly global society) has grown a lot more accommodating for certain disabilities because it is understood that the condition was not the person's choice and cannot be fixed. But if the condition is capable of being cured/managed with no serious side effects, and the cures are easily accessible, what is the right amount of effort society should put into being accommodating?
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.
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.
Also disabled, and this is a topic I've been chewing on a lot lately—I started writing up a longer comment but deleted it, lol. What I really want to say is that I have a few problems I would 100% cure in a heartbeat, and a few that I'm less sure about, so I get it.
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.
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.
I'm actually in this position a bit. I'm still young(ish) with a serious hip condition that causes me some disability. There are options for replacement that could get me to near full function, but there are drawbacks and the shear fear of surgery and replacing part of my body with metal and plastic. If I was wheelchair-bound, I don't think it would be a hard choice, but I am able to essentially do most of the things I need to do at least as I am. And so I put it off and put it off.
Hip problems are brutal, been there before :( Mine (mostly) resolved when I addressed some other underlying issues but I was also seriously considering joint replacement for a bit!
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.
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.
Yes - it’s a bit ironic that I have an extremely rare condition (Perthes disease) that ultimately may be resolved by a very common surgery. And it is known as one of the best as far as outcomes - the Lancet called it the surgery of the century, so I do at least have some hope there.
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.
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.
Damn, I recently learned about Perthes and it does not sound fun. Glad you're managing for now but I hope you get some relief in the future, through surgery or otherwise.
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!
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!
Do you have significant pain?
Pain is the main disability; most days I walk well enough that no one can tell I have issues, but the pain can make it hard to concentrate on my work. That said, some days I have little pain and so it is hard to commit to a surgery when I have a string of good days.
I think there is an easy line. We know what should occur with certain parts of the body. Ears should be able to hear so when they don't we know there is a problem.
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)
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)
It's crazy to me that we even need to explain the difference between variation in height and a non-functional organ. I don't know if people are just so open minded that their brains fell out, or if it's some new idea where everyone gets their own personal perception of reality and nothing is real, maaan.
Here's the problem with slippery slope arguments. You could substitute all medicine and your point would still stand. Do people with a limp need to be "fixed" or does it add character? You know who is the right person to decide that? The person receiving the therapy, or if they are a minor, their parents. Nobody else is well equipped to make the decision for them.
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.
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.
Designer babies are fine with me. If I could make a handsome, strong as an ape, genius, healthy baby, I'd do it! I'd do the same for me.
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.
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.
I imagine if people selected for what society wants at a given time you'd have disasterous population level effects. Aren't animals bred to taste pretty messed up in a million other ways?
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>Where is the line between "gene therapy" to eliminate differences (such as deafness) and eugenics? If we have statistics that taller people have better outcomes in life, should we do gene therapy to make sure everyone is taller than 6'?
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.
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.
Am I reading it wrong or are you admiring deafness which shouldn't be cured? Or the deaf people who are admirable?
Why should curing deafness not be a goal of medicine?
Why should curing deafness not be a goal of medicine?
I'm reading it like the hedonist's treadmill. Why be happy with a 6 figure salary when there's people with 7 figure salaries? Are you content with your current situation, or are you missing a part of what it means to be human by not having better eyesight, better teeth, better hearing?
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"
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"
> Where is the line between "gene therapy" to eliminate differences (such as deafness) and 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.
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.
Perhaps we should have different words for voluntary (choosing to regain your hearing, etc...) and coercive (forced sterilization, etc...) "eugenics", since almost all of the negative connotations of the word are (rightly, IMO) attributed only to the latter.
Parents are going to choose these things for their kids though?
That was my first though, BUT... to play devil's advocate, people choose gender reassignment surgery (including young children) and that choice continues to be very very controversial.
The controversy is due to cutting off perfectly good and functioning body parts. Correcting a body part that is not working correctly isn't all that controversial.
Are you implying that there'd be no controversy if people were able to swap parts of their bodies with others'?
I'm not sure how you came to that conclusion? If you had a functioning body part and could swap with another person that would still be cutting off a functioning body part. Just because you got another functional body part doesn't change anything.
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.
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.
Why are my private bits any of your business anyway? Don't reproductive rights go both ways? I can't even have children of my own anyway since I'm married to a woman. 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.
> Why are my private bits any of your business anyway?
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.
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.
No, he's implying that someone with a non-functioning body part getting a functioning donor (presumably from someone who just died and has no chance of ever needing or wanting theirs again) would not be controversial.
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.
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.
The goal of all life is to make more life, is it? Not everyone wants kids. Is it my duty to be able to make kids? But what about my autism and mental illness? I thought that people didn't want people like me making kids. Or is it all about my usefulness to cishet guys? A woman is, after all, just a tool.
Remember, you asked if "there'd be no controversy." I'm just examining the controversy, not universal truth.
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.
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.
Where are young children getting surgery?
In the US there are plenty of places where children can get surgeries. This is a small sampling of the locations:
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...
[4] https://www.seattlechildrens.org/clinics/gender-clinic/
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...
[4] https://www.seattlechildrens.org/clinics/gender-clinic/
Looking at the links, none of them suggest that surgeries are performed on children. Puberty blockers aren't surgery. Intersex children are surgically mutilated without their consent but adult trans people need an OK from two psychiatrists. If I had had puberty blockers (reversible) as a child, I wouldn't have had to go through something painful. I was only able to start hormones at the age of 23 when all the changes had already happened. Hormones aren't able to reverse everything. Then people complain that we don't look good enough when we were never given the chance (unless you're rich enough to be able to afford surgeries, which I'm not).
Please reread.
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.
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.
Here is a framework for thinking about it: raising population-level concerns and using them to justify laws restricting what children parents can have (or not have) seems like the pro-eugenics side. The reproductive freedom side is to take a laissez-faire attitude on how the human population changes. Let parents choose the children they want to have and it will probably work out.
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.
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.
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In the current state of the world ethics is faked. Survival is everything. AI will be used for weapons and for power grab by politicians and billionaires (e.g. through mass manipulation). Gene "fixing" will be used by those who can afford it, 100%. Today everyone wants to be better, stronger and smarter. Otherwise you and your offspring (if any) are doomed to stay in lower castes of society for ages. Be sure the top castes will arrange that.
Yuval Harari makes an interesting point in one of his books: that many kinds of these inventions always start as a way to treat people with some kind of a medical condition and bring them into the "median" spectrum, but there's no stopping there and the same inventions are then used to bring "median" people into the "super-human" spectrum.
What happens next is that the "regular" humans have to compete with these "super-humans", for example on a job market, or in Olympics.
What happens next is that the "regular" humans have to compete with these "super-humans", for example on a job market, or in Olympics.
I can't think of a medically relevant example except maybe stimulants and painkillers, but outside of medicine, this definitely is the case with technology: many inventions have a ratchet effect - they start as gimmicks, but when they reach a critical mass of users, they confer so much competitive benefits that they rapidly spread everywhere, and eventually become required to function.
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.
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.
> those people realized they're able to coordinate better when they have synced clocks, which made new things possible
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.
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.
It's a feedback loop; manufacturing couldn't scale without clocks, and neither transportation - think e.g. train time tables. Once it became possible to keep people in sync down to minutes, it immediately became popular, and those who avoided it were increasingly left behind.
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.
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.
The relationship is likely bidirectional as opposed to a one way street.
> 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.
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.
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.
You say that as if this has happened before ("many kinds of these inventions always start as..."), but what conditions have actually had this happen?
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.
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.
Think of e.g. the development of optics that brought us the eyeglasses first, and the telescopic sight on a sniper rifle second. Now imagine an army of median humans that need to fight the army of genetically-modified humans that can see in the dark.
steroids
Most, even in the presented example of the olympics aren't having to compete against those on steroids though?
It's hard to know how many people are getting away with cheating. I'm more familiar with it in the context of cycling, where performance-enhancing drugs have long been a thorny issue.
> 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...
> 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...
Most people are competing against people on steroids. They’re incredibly common.
Breast augmentation could be one case.
Haha I guess that might technically fit.
You could say the same for plastic surgery in general. Techniques developed to restore injured faces (e.g. of soldiers) are now used for cosmetic purposes.
Implants, prosthetics, and exo-skeletons?
Which implants and prosthetics currently exist that are such that a median person would want them and as a result would become super-human?
As was mentioned in another comment, breast augmentation and other forms of body modification in the context of influencers, broadcasters, actors, models, etc.
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.
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.
Re-read my comment, I haven't said anything about the future. My point was just that it seems weird to talk about it as if it has already happened.
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.
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.
I re-read your comment, but I still disagree that the evidence provided by myself and others in response, as well as evident near-term future advancements, are irrelevant to the comment you responded to.
> 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.
> 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 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.
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.
> it covers even just the act of practicing
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?"
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?"
Someone mentioned steroids, but Epogen is another example.
You can only switch a gene "on" once. So I'd like to see some examples.
Or do you mean more people with all their genes switched "on" so to speak?
Or do you mean more people with all their genes switched "on" so to speak?
Epigenetics would like a word.
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
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
Isn't that already the case? Genetically the average Olympian is definitely super human compared to the population. Unless we start adding novel genetic data to humans I wouldn't be too worried.
I wouldn't say superhuman - just better than the "average" athlete who trains by maybe 5-10%. But when the difference between finishing first and last in a race is that 5-10%, thats huge.
The Theory of Bounded Rationality tells us super humans are over rated.
There will always be problems you throw in the lap of a super human, that they wont be able to solve cause of lack of time, or cash, or personality or missing info, or conflicting needs, or their belief system etc etc.
I mean this isn't really a novel point, this is true of everything not just biological enhancements, but technological enhancements as well. The privileged will always have first dibs.
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.
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.
“As a charity, we support families to make informed choices about medical technologies, so that they can give their deaf child the best possible start in life.”
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.
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.
As a person that’s not deaf. It’s great to hear scientific breakthroughs can help people experience life with this important sense.
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.
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.
There's some good movies based around deafness:
https://en.wikipedia.org/wiki/CODA_(2021_film)
https://en.wikipedia.org/wiki/Sound_of_Metal
And a bad video game:
https://en.wikipedia.org/wiki/The_Quiet_Man_(video_game)
https://en.wikipedia.org/wiki/CODA_(2021_film)
https://en.wikipedia.org/wiki/Sound_of_Metal
And a bad video game:
https://en.wikipedia.org/wiki/The_Quiet_Man_(video_game)
I strongly endorse both of the mentioned movies. They're both excellent.
What isolation? The children just become fluent signing with their parents, just as any child will spontaneously pick up their parents' language.
Do you think you'd feel as connected to your family if you could only communicate with them by writing, while you can communicate with everyone else by talking?
Yes, there would be a level of isolation. It needn't be extreme, but I can't imagine there would be none
Yes, there would be a level of isolation. It needn't be extreme, but I can't imagine there would be none
It's really no different from immigrant families where the parents don't speak English, but the children speak both languages.
I've known plenty of people and families like that, it was never an issue.
I've known plenty of people and families like that, it was never an issue.
I've known plenty of people like that where is was an issue. The parents can't rely on neighbors because they can't communicate. Don't have as many friends. Have trouble at local stores, doctors, agencies, etc...
>Do you think you'd feel as connected to your family if you could only communicate with them by writing, while you can communicate with everyone else by talking?
Maybe more connected? If you are using a language that few others know, seems like it would enhance the "specialness"
Maybe more connected? If you are using a language that few others know, seems like it would enhance the "specialness"
Anecdotally, I know of one hearing person raised by deaf parents, and he's fluent in sign language. There's no isolation between them.
I'm glad this little girl can hear. But I don't understand how this can possibly work.
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?
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?
It's a virus that adds a bit of genetic code to cells in the ear. The new genetic code is the instructions for the protein that is broken in the the little girl (and other similar patients). The cell can then use the newly introduced DNA to make a protein. This protein restores the link between the auditory sensory cells and the auditory nerve cells.
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.
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.
Thanks for your answer. Yes, I get that bit you describe, more or less.
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?
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?
These particular hair cells dont die, so they think the treatment will persist, see https://news.ycombinator.com/item?id=40313256
thanks for the link
That's awesome. So happy for her and all the others like her who now have hope.
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.
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.
> “The audiologist played back some of the sounds that she was responding to and they were ridiculously quiet sort of sounds that in the real world wouldn’t catch your attention during a conversation,” Mrs Sandy said.
That could be problematic, couldn't it?
That could be problematic, couldn't it?
I'm 80% deaf on my left ear due to measles carried by my mom before my birth. I couldn't gather from the article whether this would help my case, but I'm hopeful regardless.
Unfortunately this particular therapy will not.
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.
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.
This particular treatment only works on a particular mutation, so probably not.
Is "auditory neuropathy" something where there isn't any other existing treatment that directly addresses the issue versus compensating for it (like cochlear implants)?
The 'neuropathy' part is meant to imply that the issue isn't with the hearing mechanism itself, but rather with the part that allows the mechanism to communicate with the brain. In this case, the expression of a specific gene causes the creation of a specific protein which plays a role in the transmission of audio to the brain. This gene was either not present or malfunctioning, so they added the proper gene manually.
This is the kind of amazing news I come here for. And the kind of hard science real life tech that makes lives truly better. Love it. Thanks hacker news!
As a hearing person who grew up with deaf family members (my mom & aunt are deaf), I think many deaf people will actively oppose gene therapy for deafness. In the deaf community, there’s a large subsection that actively oppose things like cochlear implants or any other attempts to make deaf people hearing. There’s a few reasons why:
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.
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.
This is a truly important perspective. And I wonder if often treatments to make people more "normal" are sometimes more pushed by society because one of the prime pressures of modern society is to have everyone homogenized as cogs to advance technology rather than just be a person.
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).
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).
Can this treatment be used to treat other diseases? Say for example, people without a functional immune system?
It gives me so much hope... I'm so happy to see such developments in modern medicine
Is this an application of CRISPR?
No, this is an adeno-associated virus (AAV) gene insertion. An engineered version of a naturally occurring virus inserts a working copy of the OTOH gene into the genome of cells in the inner ear.
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.
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.
And regular cell-division will include this episome the way it does the regular chromosomes?
I'm hopeful we will be able to cure retinitis pigmentosa with CRISPR one day.
This is one of those things that make me feel like I’m living in the future.
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Can we use this to fix colour deficiency?
How are we going to afford all these incredible therapies as a society? They’re life changing and worth it but we’re going to need some cost breakthroughs.
gene therapy to fix sequelae from the first gene therapy
foobarian(11)
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.