This is great news. Hopefully this will be expanded to other forms deafness like those caused by ototoxic medication, ear infections, and general sensorineural hearing loss.
This particular study looks like it's dealing with a pretty narrow condition and solution (protein missing - add gene for protein). I don't think this particular research can be extended the way you hope.
... and then there was this Phase-1 trial in Japan about re-growing missing teeth.
We're really making astonishing progress in many different areas in medicine these days. They are mostly pretty narrow, but also so awesome that ~20 years ago, many doctors would have called it science fiction.
How would one find out if they have this type of hearing loss? I have moderate to severe hearing loss in both ears since birth and there’s never been an attempt that I’m aware of to diagnose the cause beyond a standard inner ear examination.
Whole Genome Sequencing is affordable now. I’d suggest a 20x hifi long read from broad clinical labs for $1200 or so. Use opencravet to dig into the results. They just posted a webinar for personal analysis https://wse.zoom.us/webinar/register/WN_-VvYJ8FKRcGaKCQtLFrU...
Franklin by genoox is a slicker and possibly more approachable product depending on your interface preferences.
Genetic research — due to the number and subtly of variants — is ripe for citizen science in my opinion.
Genomics-driven diagnosis of several (treatable) conditions is not science fiction anymore, but requires support from governments and national health systems. The technology is there, and can be scaled up.
You know, whenever treatment for autism comes up, we get a lot of comments heavily suggesting curing autism is basically eugenics.
Why is it that some things are seen as a disability we should try to fix in our children, and others - which are in many ways just as debilitating - seen as some kind of beautiful part of humanity?
Autism is a spectrum disorder and I don’t think it should be controversial to cure low functioning autism. However, high functioning autists can be argued to be more of a personality variant than a disability, with different strengths and weaknesses compared to neurotypical people. Society benefits greatly from supporting high functioning autistic people in say, technical fields where hyperfocus, narrow obsessions and systemising thinking are an advantage.
Meanwhile, having a genetic condition like haemophilia doesn’t give you any conceivable advantage.
While I'm probably considered high-functioning autistic, I have seen the devastating effects autism can have on people less lucky than me. I don't know if I'd go for an autism cure myself, but if autism can be corrected for in the womb or right after birth, I would definitely be in favour. How necessary such a cure would be, depends on how extreme someone's autism is, and if the cure can be administered before their disability helps form and solidify their personality.
However, I think mental disorders like autism and physical ailments like deafness don't have the same ethical impact. One changes who a person is, the other changes what a person is capable of. It also depends on how bad the disability is; in this case, the kids showing most promise could already hear, though badly, and the treatment let them hear much better. I'm not even deaf but I'd happily take a treatment to fix whatever hearing damage I've collected over the years.
And for what it's worth, eugenics is already with us and that's actually not so evil. People carrying certain genetic diseases choose not to have (biological) kids all the time. Others still choose to risk it. As long as there isn't some large conspiracy about perfecting the human race behind it, eugenics can be helpful.
The tech behind this is not new or difficult. The issues are related to safety and regulation. Early efforts in gene therapy had disastrous results and current treatments are not trying to repeat past mistakes.
There is tremendous potential for gene therapy to cure disease, however it needs (and so far has had) strict regulation, particularly if the changes can be inherited.
I can't say anything about the specifics of this treatment, but in terms of their ability to fully benefit from hearing, it would depend on when they became deaf, and the severity of their deafness.
If they were born deaf, or lost hearing as a young child during the language development stage, then it would probably be a long adjustment. Things would just be noise and it would take a lot of training to distinguish sounds, speech, etc. And unlike a cochlear implant, you couldn't just take it off to give your brain a rest.
If they had hearing loss later in life, or some residual hearing, then they probably have a better chance of re-adjusting to hearing.
If they've been deaf from infancy, basically the entire hearing center of the brain is non-existent. So they'd be hearing sound, but processing it into meaningful content would not happen, if at all. So basically, its like having a cacophany of sound that you can't filter and process...
As for others, one thing hearing people, particularly monolingual hearing people, don't understand very well is that hearing != understanding. Just because you hear a sound doesn't automatically equate to it having meaning. The default for many people is to just SPEAK LOUDER and slower, which does not help in the vast majority of encounters
Really challenging. In some aspects it can be worse than to regain vision.
If you are not accustomed to sounds, they can be annoying, and may make you feel tired. The same can happen with vision, it is just too much, but you can close your eyes, and shut out vision stimuli. You can't do that with hearing. At least if you regain hearing with normal sensitivity, you can be overwhelmed by sounds of your body.
It is easier with implants, which can be shut off.
I have always felt that hearing problems are difficult to truly "cure" and that most people can only use hearing aids. But this study is really different. If the key protein can be repaired, those conditions that seemed unchangeable in the past may now have a chance of turning around. Both children and adults can benefit from it, and this medical progress is really impressive.
This is interesting because the quack who created Chiropractic wrongly thought he cured deafness with spinal manipulation. Just shows how powerful the real scientific method is.
Controversial in the same way cochlear implants are.
Many deaf/Deaf parents want children who hear. And I think absent the cultural consideration, almost all would want children who hear.
But you can't ignore the cultural consideration. If you are deaf, and have a deaf child, curing that child's deafness means they will move away from you later in life. It's a kind of alienation even when the child remains bicultural, they usually end up almost entirely in the hearing world.
That said, most deaf people who have children have hearing children anyway. Hereditary deafness like that is relatively rare like that.
But for people from such families, and who live in a culturally deaf world -- they are not disabled. The cultural environment they live in is ... one in which deafness is not disabling. And it's going to be a very high hill to climb to convince them that they are missing something. They certainly don't feel it. This is particularly true in the United States which has such a proud tradition of deaf culture and education -- you can go all the way to doctorate level studies in ASL, work in ASL, the hearing world being a strange foreign culture you only rarely wade into -- only rarely need to.
I'd cure it for myself, and my child if I had one. No question. But I'm not culturally deaf. I feel isolated by it in the same way most hearing people anticipate deafness to be as an experience. But again -- people who live in the deaf cultural world -- they do not feel that, and they don't feel disabled because, in their context, they aren't. It's hard to communicate this to most hearing people. The usual response is dismissive, and unfortunately I think a lot of that ultimately goes back to very old metaphysical attitudes towards language and intelligence. A lot of hearing people still don't believe, deep down, that sign languages are equivalent to spoken languages, in particular. It's just gesture. You're lacking something essential to the human condition without spoken language. Etc. But for the culturally deaf, nothing is missing from their lives, except the perception of sound.
I am not from the deaf community, but my son has severe hearing loss. I really look forward to a world where condition like his simply becomes fixable like bad teeth and he doesn't have to miss out on so many things.
It's a double edged sword, because it shrinks the already small deaf/HoH population and we can't yet eradicate hearing like we can smallpox(completed), polio(mostly gone), etc.
It's awesome that it works for some people, just like CI's work for some people(but not all).
Until we can restore hearing(or insert favourite disability here), to everyone, it's going to be controversial inside of those communities, because it makes our already smaller world, smaller. Which causes lots of emotions as you can imagine.
That doesn't mean our world has to be smaller, even now. There are lots of things we can do to make deaf people's worlds bigger(and again, insert any other disability here). We choose not to do them because some people think they are hard, some people think they are expensive and some people think it's not needed.
Perhaps some of that is true, for some items on the massive list.
“Blindness separates people from things; deafness separates people from people.” - Helen Keller
Deafness doesn't have to separate people from people, but it does.
Until we can eradicate XXX disability completely(unlikely) we should as a society strive to make their worlds bigger, not smaller. Sadly so many people don't feel that way, for various reasons.
Please rename this to "Gene therapy restored hearing in patients with autosomal recessive deafness" so as not to raise and then dash hopes of deaf HN readers
[+] [-] jonathanlb|9 months ago|reply
[+] [-] im3w1l|9 months ago|reply
[+] [-] vonnik|9 months ago|reply
[+] [-] perlgeek|9 months ago|reply
We're really making astonishing progress in many different areas in medicine these days. They are mostly pretty narrow, but also so awesome that ~20 years ago, many doctors would have called it science fiction.
[+] [-] agumonkey|9 months ago|reply
[+] [-] jhaddow|9 months ago|reply
[+] [-] codytruscott|9 months ago|reply
Franklin by genoox is a slicker and possibly more approachable product depending on your interface preferences.
Genetic research — due to the number and subtly of variants — is ripe for citizen science in my opinion.
[+] [-] 2dvisio|9 months ago|reply
Genomics-driven diagnosis of several (treatable) conditions is not science fiction anymore, but requires support from governments and national health systems. The technology is there, and can be scaled up.
With studies like this: https://www.genomicsengland.co.uk/initiatives/newborns
and initiatives like this: https://www.bbc.co.uk/news/articles/c1ljg7v0vmpo#:~:text=Eve...
[+] [-] apt-apt-apt-apt|9 months ago|reply
[+] [-] invalidOrTaken|9 months ago|reply
[deleted]
[+] [-] squigz|9 months ago|reply
Why is it that some things are seen as a disability we should try to fix in our children, and others - which are in many ways just as debilitating - seen as some kind of beautiful part of humanity?
[+] [-] joefourier|9 months ago|reply
Meanwhile, having a genetic condition like haemophilia doesn’t give you any conceivable advantage.
[+] [-] pabs3|8 months ago|reply
[+] [-] jeroenhd|9 months ago|reply
However, I think mental disorders like autism and physical ailments like deafness don't have the same ethical impact. One changes who a person is, the other changes what a person is capable of. It also depends on how bad the disability is; in this case, the kids showing most promise could already hear, though badly, and the treatment let them hear much better. I'm not even deaf but I'd happily take a treatment to fix whatever hearing damage I've collected over the years.
And for what it's worth, eugenics is already with us and that's actually not so evil. People carrying certain genetic diseases choose not to have (biological) kids all the time. Others still choose to risk it. As long as there isn't some large conspiracy about perfecting the human race behind it, eugenics can be helpful.
[+] [-] max_|9 months ago|reply
Is there a specific field in genetics pushing this?
I used to hear buzz about CRISPER/CAS9 is it what is underlying most of these advancements?
How come alot of gene editing stocks have taken a serious beating if the tech is so good.
Many, many gene editing stocks have lost more than 90% of thier value since IPO.
[+] [-] searine|9 months ago|reply
There is tremendous potential for gene therapy to cure disease, however it needs (and so far has had) strict regulation, particularly if the changes can be inherited.
[+] [-] S4H|9 months ago|reply
[+] [-] jallmann|9 months ago|reply
If they were born deaf, or lost hearing as a young child during the language development stage, then it would probably be a long adjustment. Things would just be noise and it would take a lot of training to distinguish sounds, speech, etc. And unlike a cochlear implant, you couldn't just take it off to give your brain a rest.
If they had hearing loss later in life, or some residual hearing, then they probably have a better chance of re-adjusting to hearing.
[+] [-] dd82|9 months ago|reply
As for others, one thing hearing people, particularly monolingual hearing people, don't understand very well is that hearing != understanding. Just because you hear a sound doesn't automatically equate to it having meaning. The default for many people is to just SPEAK LOUDER and slower, which does not help in the vast majority of encounters
[+] [-] ordu|9 months ago|reply
If you are not accustomed to sounds, they can be annoying, and may make you feel tired. The same can happen with vision, it is just too much, but you can close your eyes, and shut out vision stimuli. You can't do that with hearing. At least if you regain hearing with normal sensitivity, you can be overwhelmed by sounds of your body.
It is easier with implants, which can be shut off.
[+] [-] Elaris|9 months ago|reply
[+] [-] smath|9 months ago|reply
[+] [-] froggertoaster|9 months ago|reply
To me it's an obvious disability, and deaf people SHOULD want to be cured, but tribalism wins that argument all too often.
[+] [-] UltraSane|9 months ago|reply
[+] [-] d0100|9 months ago|reply
I wonder how this compares to animosity towards coclear implants by a subsection of the community
[+] [-] retrac|9 months ago|reply
Many deaf/Deaf parents want children who hear. And I think absent the cultural consideration, almost all would want children who hear.
But you can't ignore the cultural consideration. If you are deaf, and have a deaf child, curing that child's deafness means they will move away from you later in life. It's a kind of alienation even when the child remains bicultural, they usually end up almost entirely in the hearing world.
That said, most deaf people who have children have hearing children anyway. Hereditary deafness like that is relatively rare like that.
But for people from such families, and who live in a culturally deaf world -- they are not disabled. The cultural environment they live in is ... one in which deafness is not disabling. And it's going to be a very high hill to climb to convince them that they are missing something. They certainly don't feel it. This is particularly true in the United States which has such a proud tradition of deaf culture and education -- you can go all the way to doctorate level studies in ASL, work in ASL, the hearing world being a strange foreign culture you only rarely wade into -- only rarely need to.
I'd cure it for myself, and my child if I had one. No question. But I'm not culturally deaf. I feel isolated by it in the same way most hearing people anticipate deafness to be as an experience. But again -- people who live in the deaf cultural world -- they do not feel that, and they don't feel disabled because, in their context, they aren't. It's hard to communicate this to most hearing people. The usual response is dismissive, and unfortunately I think a lot of that ultimately goes back to very old metaphysical attitudes towards language and intelligence. A lot of hearing people still don't believe, deep down, that sign languages are equivalent to spoken languages, in particular. It's just gesture. You're lacking something essential to the human condition without spoken language. Etc. But for the culturally deaf, nothing is missing from their lives, except the perception of sound.
[+] [-] vasusen|9 months ago|reply
[+] [-] ezfe|9 months ago|reply
My handicap is handled very well by my hearing aids and everyone should have that opportunity.
[+] [-] guerrilla|9 months ago|reply
[+] [-] zie|9 months ago|reply
It's awesome that it works for some people, just like CI's work for some people(but not all).
Until we can restore hearing(or insert favourite disability here), to everyone, it's going to be controversial inside of those communities, because it makes our already smaller world, smaller. Which causes lots of emotions as you can imagine.
That doesn't mean our world has to be smaller, even now. There are lots of things we can do to make deaf people's worlds bigger(and again, insert any other disability here). We choose not to do them because some people think they are hard, some people think they are expensive and some people think it's not needed.
Perhaps some of that is true, for some items on the massive list.
“Blindness separates people from things; deafness separates people from people.” - Helen Keller
Deafness doesn't have to separate people from people, but it does.
Until we can eradicate XXX disability completely(unlikely) we should as a society strive to make their worlds bigger, not smaller. Sadly so many people don't feel that way, for various reasons.
[+] [-] FranckDernoncou|9 months ago|reply
I'm always amazed that some people still choose to publish in paywalled journals.
[+] [-] unknown|9 months ago|reply
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[+] [-] coolKid721|9 months ago|reply
[+] [-] wetpaws|9 months ago|reply
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[+] [-] Saul1998zx|9 months ago|reply
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[+] [-] artursapek|9 months ago|reply
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[+] [-] pugworthy|9 months ago|reply
[+] [-] unknown|9 months ago|reply
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[+] [-] unknown|9 months ago|reply
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[+] [-] thomassmith65|9 months ago|reply
[+] [-] thomassmith65|9 months ago|reply
Please rename this to "Gene therapy restored hearing in patients with autosomal recessive deafness" so as not to raise and then dash hopes of deaf HN readers
[+] [-] tomfucksdan|9 months ago|reply
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