Gene therapy restored hearing in deaf patients(news.ki.se) |
Gene therapy restored hearing in deaf patients(news.ki.se) |
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.
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.
If you have partial genome data from 23andMe, Ancestry, etc, you can use what's called "genomic imputation" to do a sort of probabilistic gap-filling in your genome.
It's a bit tricky to do yourself, but there are paid services that will run the imputation for you and share the results.
I paid $15 for mine at https://dnagenics.com
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@codytruscott I signed up for that webinar, I hadn't heard of this tool before, thanks!
Got any other useful links/tools to share by chance?
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...
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?
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.
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.
Can you share examples...? Just curious as an outsider looking in.
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.
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
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.
To me it's an obvious disability, and deaf people SHOULD want to be cured, but tribalism wins that argument all too often.
I wonder how this compares to animosity towards coclear implants by a subsection of the community
I'm always amazed that some people still choose to publish in paywalled journals.
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
Meanwhile, having a genetic condition like haemophilia doesn’t give you any conceivable advantage.
At the expense of those people having to live with all the unmentioned negative aspects of autism.
(To say nothing of whether those are actually positives or not. Personally, I don't see how hyperfixating on something for a few weeks at a time at the expense of all my other responsibilities is a superpower, but hey)
Sickle-cell anemia does though. I wonder if some day there could be a survival advantage for haemophilia. What if we erase the genetic code that ends up saving us from some alien virus, you know?
I'm not saying this is a good argument, just something interesting to think about.
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.
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 can respect resisting pressure to be part of the hearing world, but there are certainly ways in which deafness impacts one's safety and opportunities. Not being able to hear sirens, or oncoming trucks, or cars honking their horns, or cyclists saying "on your left", or fire alarms makes the world less safe for you (and for others who may have the expectation you can hear them)
I'm certainly not saying this to suggest people should be forced to join the world of the hearing if given the option, but I do think doing so would be the responsible option, if it's a readily available one.
Kind of like I don't expect people to learn other languages than their native tongue, even when it's a language spoken by the majority in their place of residence. But if you don't speak the language spoken by the majority, and are presented with the opportunity to instantly learn it (like "I know Kung Fu"-Matrix style), I certainly think it would be more responsible to do so.
Less important but similar: birdsong, the sound of crashing waves, children laughing in a playground. Hearing brings us much besides transfer of information.
On the other hand, from my brief number of ASL lessons (about a years worth taken as an adult in my mid 20s) the facial expressiveness inherent to ASL gives it something hearing people don't get in normal conversation. But to me that's a pretty small benefit compared to the things a deaf person is missing.
I'd respect anybody who chose not to get treated for themselves, but I think I'd be pretty judgy pretty quickly for anybody who tried to deny or dissuade anybody else from becoming hearing, including their children.
We can and should, the same way we ignore the corresponding "cultural consideration" that mothers who have undergone female genital mutilation themselves will feel alienated from their daughters if they do not inflict the same treatment on them. In this case, most people have no problem recognising that the rights of the daughter to enjoy her own sensory experience far outweigh the (quite real) emotional isolation that would be experienced by the parent -- so why is deafness treated differently?
Denying another person sensory experience is abuse. If that person is a child, it's child abuse. For me the harm inherent in this has nothing to do with whether sign languages are perceived as "real" languages on par with spoken languages. It's obvious to me as a hearing person that sign languages are indeed "real, full" languages, the same way written languages are, and, more generally, the same way that languages I don't personally understand but other people do, are. Sign languages are real, full languages -- and preventing a person who would be able to hear from hearing is still abuse.
I think the reason this is not called out more frequently and stridently by hearing people is that many of us fear being labeled "prejudiced" or worse, and being associated with the political right, who have a long history of making absolute moral claims about outgroups. It's simply an unusual quirk of our times that this specific quality of being seen as culturally presumptuous is the thing that no Right-Thinking Person wants to be seen doing right now, resulting in many otherwise intelligent people bending over backwards to avoid the stigma, even to the point of denying obvious realities like "a life that includes access to more sensory experience is a richer life".
ETA: To anyone who maintains that deaf parents should be able to prevent their children from being able to hear: Should illiterate parents be able to prevent their children from going to school? Should parents who grew up poor be able to starve their children?
What's this defined as? Keeping away from all non-deaf people?
i recently realized that my neighborhood soccer teams arent constantly yelling at eachother about where they are, and that stopping to look for who to pass to is costing us games. i started yelling on their behalf a couple games back and we started shooting and scoring.
somebody who wants to remain deaf, couldnt play soccer at the same level as hearing people because they couldnt hear that information, even though their foot to ball skills might be amazing, and thats a travesty for soccer.
im sure theres lots of things we tend to not think of where hearing is a gigantic advantage, that the deaf arent able to use, and were missing out on their related skills because of it
If a person wishes to not get a certain treatment - fine, that's their right. But when one starts trying to keep others down, that's not ok.
My handicap is handled very well by my hearing aids and everyone should have that opportunity.
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.
https://usegalaxy.org is pretty remarkable and provides access to a ton of open source bioinformatics tools + compute to process the files.
I really think the $1200 20x pacbio from broad is worth it if you are going to make it serious hobby.
"The most notable obstacle faced in the gene therapy field was that of Gelsinger in 1999, who is understood to have died after his body overreacted to the adenovirus vector. Gelsinger had a rare disorder in which the liver lacks a functional copy of the ornithine transcarbamylase (OTC) gene and, consequently, the body is unable to eliminate ammonia, a toxic breakdown product of protein metabolism."
"A gene therapy for children with severe combined immunodeficiency (SCID) was delivered [to two independent groups in London and Paris] and was incredibly successful,” explains Griesenbach. “But, [in 2008; between three and six years later], a small proportion of children [in Paris] developed leukaemia induced by the vector, which had inserted itself into a gene that controls cell division [4] .”
Some might also use protein folding simulations, and the best ways to do that involve narrow AI.
I'd love to hear from somebody in the medical research field how much AI/ML actually speeds up their progress.
I don't know ASL, so can you elaborate on this? Aren't facial expressions just as important for non-deaf people?
I agree, but that's not a result of me being deaf, it's a result of the hearing world just blindly assuming everyone can hear these things. People screw up hearing sirens or "on your left" or whatever ALL the time, even if they are hearing (distracted, headphones, etc).
If we took away the assumption that everyone can hear everything all the time, it would help everyone, not just people who are deaf.
For instance, studies show that subtitles/captions being always on helps retention of the information you just watched[0]. Yet subtitles/captions not even being included is still the default for many types of media. When captions are included, often times they are wrong, either subtly or grossly. Even in education settings where one would think people want the information retained pretty much never ever bother to include or turn on captions. Despite decades of studies saying captions help a lot.
Go to your local home improvement store and try to buy a battery powered smoke/fire alarm that will work for deaf people. I'm betting despite lots of options the chances are basically 0 for finding one(yet they do exist in the world). Finding one that works with wired 110V is a little above zero. What if it was the other way around instead, and it was hard/impossible to find a fire/smoke alarm that didn't work for deaf/HoH people?
0: UW-Madison did a comprehensive overview[0] of over 100 empirical studies in 2015 showing that captions are useful for everyone, not just deaf/hard of hearing people. "The empirical evidence is clear: Captions, also known as same-language subtitles, benefit everyone who watches videos." They recommended just always showing captions.
source: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5214590/
TikTok generally has captions, usually burned into the video clip, you can't turn them on/off.
For what it's worth, it's generally thought that deaf drivers are safer drivers. See https://www.handspeak.com/learn/280/.
> fire alarms
ADA requires fire alarms to include visual alarms (as in flashing strobes) for this reason.
Those two things mean different things to me. Obviously deaf people cannot hear. Not able. Dis-able. Deafness is a disability.
But not all disabilities are generally disabling of individuals. The only disability that deafness causes is a lack of perception of sound.
Hearing people have a panoply of inferences about what that means -- about how it disables and how broadly it disables. And most of them are faulty. It doesn't result in isolation, in particular, in a deaf cultural context. In fact in the deaf cultural context about the only thing missing is some auditory alerts that would be nice as a visual complement, and some aspects of music and the like. Yes. Birds chirping is beautiful. I miss it deeply. It'd be nice to have a world where every kid gets to experience that.
But all of the social and emotional and cognitive consequences imagined of deafness, are not innate to the lack of hearing.
Or should a fish be able to breathe without water?
In both cases there are ways to function without fundamentally altering the body, and neither is wrong.
It is not so clear that there is "abuse", when there is an empathetic standard of living.
Now to me, the best argument for taking this is that deaf people do have ears, whether or not they function. So it is reasonable for them to experience sound, but also, they have a right not to, if they so choose.
What I think is harder, if you have experienced neither, to be able to make that decision well. And nobody is talking yet about reversing such a therapy...
Perhaps I'm misunderstanding, but are you basically saying that there's no real negative aspects inherent to being deaf, outside of those imposed by society?
Animals that can hear extremely well (owls for instance) rely on this trait to be able to survive.
It's always been more important to us to be able to see versus hear things, we evolved our large brains to take advantage of symbols and information. You can hear a symbol but it requires relatively a lot of energy to relay that over any long distance. In contrast, a smoke signal is visible for many many miles.
Things that are seen tend to be more durable, too. A scream lasts for only an instant, but the signs of a scuffle may last for days or weeks. A carving in stone can last for hundreds of years... and many of the things we eat can be seen but not heard (well).
So it is a far bigger deal to us to be blind than to lack any of the other senses.
This is a valid question. My gripe is people aren't asking the obvious other questions:
1. What are the positive aspects of deafness?
2. What are the different aspects of deafness (neither positive nor negative, but leads to a very different human experience).
If either of these significantly outnumber the negative aspects, I can see why imposing a treatment on children without the parent's consent is problematic.
Many people here self-diagnose as Asperger's. Can you not see why they would not want a "cure"?
Being an extrovert objectively gives you great advantages in (most) societies. As an introverted parent, I would definitely fight any "cure" for my introverted children.
Furthermore, if both parents are deaf and the kid is not deaf, there's a good chance that in the first so many years of life, the kid will have poorer mental development than the deaf kid. Not quite the same, but an example: Deaf kids born to deaf parents hit the same language milestones as hearing kids born to hearing parents. But deaf kids born to hearing parents do worse, because the parents don't know the appropriate way of thinking/communicating.
Related: Deaf kids who were given cochlear implants, but no sign language training fared a lot worse than both hearing kids and deaf kids who learned sign language.
The original commenter wanted to state that deafness can and should be seen as a natural occurrence, instead of a disability, that pushes people to better use other faculties. In the computer analogy, it would be someone who protests the use of computers entirely like for school children, to push them to use other skills.
I have a specific “disability” that I often cannot smell (because of allergies). I have learned to “feel” smell with my fingers running through the air. In such a situation, am I really disabled? Despite how important smell can be especially with spoiled foods? Few would think so. This deaf commenter sees his deafness in the same manner. And sees efforts to broaden people’s senses in the same manner as children being given calculators and computers at an early age.
I'd still be cautious because there's the long-running tendency for any kind of 'cure' for anything inheritable to be used as a eugenics bludgeon, but that's about society rather than the direct effects.
In this case, the lack of a specific physical ability results in that person's brain working differently.
I have congenital hearing loss in both ears, and wear hearing aids. I don't know ASL (at least not well enough to use), as I am more or less able to function with hearing aids, with the usual caveats - background noise, group settings, still quite reliant on lip-reading and context to fill in gaps etc.
Within my financial means, I would glad pay to wave a magic wand and restore my ears to "normal". This gene therapy sounds interesting, but I'm not sure if that mutation is the cause of my hearing loss. And I'm always wary of side-effects, haha.
I do see my hearing loss as a disability - and no matter how much you try to dress it up, or with "don't diss my dis-ability" PR campaigns - it still does suck every day. I'm not saying you should discriminate against people for their disability - and I've steadfastly advocated for increased accessibility to level the playing field (e.g. in my workplace, at church, in the community). But I'm not exactly Matt Murdoch or Echo here.
And yes, I'm also "neuro-diverse" (starts with A) - and yes, I guess you could argue there's advantages there, under specific circumstances. But there's most definitely a penalty there.
It's not a clear cut easy decision. I would say one should understand and respect the parents' decision. They know the factors way better than I do, and likely in many ways better than you do (especially as you don't know ASL).
I work with a deaf person (not born that way, but been that way most of her life). I'm sure she'd pay a hefty sum to get normal hearing - partially because her whole family (kids, etc) are not deaf. Even when she openly talks about the advantages of being deaf. If she did have a deaf child and chose treatment for her kid, I'd totally understand. But if she chose against it, I'd also totally understand.
What I don't get is people insisting they are totally wrong/evil for not pursuing the treatment for their kids. Almost always they don't understand the factors at play.
You'd have the same issue, if not more, with background noise, group settings and context acquisition
Processing input is the hard part, if you're already having issues, that isn't going to go away
Sure Adults opting out of such treatments on such grounds is fine. Parents doing so to their children, not so much.
I mean you can't exactly go, "We'll wait for them to be old enough to make the decision for themselves" for hearing.
But it’s otherwise normal. They don’t magically become extremely technical or have other specific positive traits that come from being deaf.
I think a more appropriate question would be, what are some positive aspects of being deaf, that are unique to being deaf? As you point out a few times, a positive aspect of being deaf, and the main reason it's 'not disabling', is because there is a community around it. But that is not inherent to being deaf, since non-deaf people also have communities; indeed, those same deaf communities could exist as they are even if their members were cured
> 2. What are the different aspects of deafness (neither positive nor negative, but leads to a very different human experience).
Can you elaborate on some of these?
> If either of these significantly outnumber the negative aspects
Also, I surely hope this isn't a simple matter of numbers, right? I mean, surely one has to weigh the severity of the negative aspects in this. "Not being able to hear" is but one negative aspect, but it's a pretty big one.
There are many who can hear who crave little or no sound. Being unable to hear is a (semi?) permanent mute button. No noise, just your thoughts and whatever you can see.
The biggest downside to being deaf? Missing out on omnidirectional communication. Whether that be hearing the telltale sounds of a critter in the bush, or conversing with someone without sight, that would be the major disadvantage.
That being said, it isn't perhaps as big an issue as one might imagine - bear attacks don't happen only to deaf people, plenty of people get hit by buses they could have heard, and often nobody listens to the intercom anyways (sometimes it is inaudible over general noise).
The next biggest, probably music. But again, a lot of music is objectively bad (stressed loud notes that are designed to attract attention versus complex or thoughtful melodies), when you reduce many vapid pop songs to their linguistic components, you might suddenly find you aren't missing out on much...
I can hear, and I appreciate the convenience. However I also struggle to find auditory peace without jamming my ears with plugs, and I appreciate the calm and quiet... I'm not sure my quality of life is that much better as a result of being able to hear.