[HN Gopher] Gene therapy allows an 11-year-old boy to hear
       ___________________________________________________________________
        
       Gene therapy allows an 11-year-old boy to hear
        
       Author : mikhael
       Score  : 445 points
       Date   : 2024-01-23 17:26 UTC (1 days ago)
        
 (HTM) web link (www.nytimes.com)
 (TXT) w3m dump (www.nytimes.com)
        
       | CommanderData wrote:
       | If true this is ground breaking news especially in the Audiology
       | community.
       | 
       | There is zero treatment besides hearing aids / cochlear implants
       | for sensory hearing loss in Human history until now.
        
         | ijhuygft776 wrote:
         | while this is great, couldn't something like Neuralink help
         | too?
        
           | ceejayoz wrote:
           | Neuralink has a long way to go to demonstrate that
           | capability.
        
           | GauntletWizard wrote:
           | Repairing our own bodies/preventing damage initially has
           | significant advantages over something like Neuralink; Not
           | fighting the bodies' own self repair mechanisms being a huge
           | one.
        
         | starttoaster wrote:
         | This is incredible news to me, as someone with horrible
         | tinnitus, I'm choosing to take this to mean that some day we
         | may even have a treatment. If I ever could hear the sound of
         | absolute silence again, I think it would reduce me to tears for
         | a while. Hearing a ringing sound everywhere you go isn't
         | literal torture, but it's maybe just below it, and I've been
         | living with it for the past decade thanks to poor choices in
         | the military.
         | 
         | I recognize that they solved a completely different issue, by
         | the way. But the fact that it's possible to do this means to me
         | that a different treatment for tinnitus may some day also be.
        
           | adventured wrote:
           | What are the modern approaches used to try to lessen
           | tinnitus?
           | 
           | I've seen stories about therapy targeting white or brown
           | style noise at it, adjusting frequency until it has an
           | affect. And that over time it can, for some people, reduce
           | the tinnitus.
        
             | starttoaster wrote:
             | I tried one of those frequency adjustment videos where it
             | just loops through a bunch of different frequencies to try
             | to find the one that cancels out the ring of your tinnitus.
             | I haven't found one that worked for me, really. But I
             | should give that more time. Other than that, I'm not aware
             | of any modern treatments for tinnitus.
        
           | lIIllIIllIIllII wrote:
           | note - maybe for others suffering with it given your
           | background but idk - I've had low-level tinnitus for ages, at
           | some point it suddenly got really bad (hearing it over street
           | traffic), turns out my ears were totally filled with wax
           | which muffled sound and destroyed my SNR, therefore tinnitus
           | 
           | back to normal slight tinnitus once removed. very easy
           | process.
        
           | CommanderData wrote:
           | This could lead a way to fix Tinnitus, there's many causes of
           | Tinnitus but it's almost always thought to be trauma to the
           | Cochlea organ / structure.
           | 
           | There's many cells involved in sensing and relaying signals
           | to the brain, and are damaged by a growing list of things
           | (Antibiotics, viral, Osteoporosis, lack of blood flow,
           | Acoustic trauma, protein loss - long lived proteins in the
           | Cochlea). Even our own immune system has the ability to
           | damage the Cochlea.
           | 
           | There is actually limited recovery of the OHC's at least but
           | lack of regeneration potential. If there's a path to
           | regenerate, it could one day fix the underlying cause and
           | with this news it seems we're closer than we ever have been.
        
       | neonate wrote:
       | https://archive.ph/3FmSZ
        
       | twostorytower wrote:
       | _But no matter how well the gene therapy works, the researchers
       | recognize that Aissam may never be able to understand or speak a
       | language, Dr. Germiller said. The brain has a narrow window for
       | learning to speak beginning around ages 2 to 3, he explained.
       | After age 5, the window for learning spoken language is
       | permanently shut._
       | 
       | Wow that's incredibly sad, but I am glad that this will
       | eventually get into the ears of thousands of deaf newborns.
       | Incredible medical advancement. Gives me hope that one day my
       | tinnitus may have a cure.
        
         | doublerabbit wrote:
         | > After age 5, the window for learning spoken language is
         | permanently shut.
         | 
         | It's fascinating how our brains are wired in such a way to
         | enable read-only mode at an certain age in development.
        
           | s1artibartfast wrote:
           | I think it is more like telling the marketing team that you
           | can't add an HDMI port to the computuer because it has
           | already finished the production run.
           | 
           | That is to say, it is as much of a hardware issue as a
           | software issue.
        
             | shermantanktop wrote:
             | Get ready to repeat yourself, because the marketing team
             | really _wants_ that port. The CMO just said  "We should
             | really add an HDMI port in a code patch because it would
             | help OEM sales a lot." A sales engineer has agreed and is
             | scheduling a brainstorm session.
        
           | SnazzyJeff wrote:
           | > It's fascinating how our brains are wired in such a way to
           | enable read-only mode at an certain age in development.
           | 
           | You're responding to a quote that is trivially false with a
           | quick google. Ok.
        
         | ricardobeat wrote:
         | > the window for learning spoken language is permanently shut
         | 
         | People still learn languages with completely different sounds
         | when they are much older? Japanese, the african click-sound
         | languages... is it some lower-level abstraction that goes
         | missing?
        
           | teaearlgraycold wrote:
           | I think it's the ability to understand any language through
           | sound. Presumably other languages learned lean heavily on
           | what you already know from other languages.
        
           | GauntletWizard wrote:
           | I think the true answer is not impossibility, but
           | significant, near insurmountable difficulty. The sound
           | processing is not hooked up to cognition in the way it would
           | be in a brain that had always had sensory input from the
           | ears. Aissam would first need to learn to differentiate
           | tones, voices, mouth-sounds, consonants vs vowels, etc.
           | That's a lot to ask of a brain that had no understanding of
           | that form of input at all.
           | 
           | But all of this may turn out to be untrue! Our understanding
           | of language acquisition comes from Feral Children[1], who had
           | no language understanding at all, but could hear. Aissam has
           | language skills, though developed late - The article mentions
           | he started learning Spanish Sign Language at 8 years old.
           | That's already a remarkable feat. This might overturn our
           | views of language acquisition, which were mostly formed in
           | the 1800's; Pedagogy has come a long way since then.
           | 
           | [1] https://en.wikipedia.org/wiki/Language_acquisition#As_a_t
           | ypi...
        
           | lucubratory wrote:
           | For reference, the language you're thinking of is Xhosa
        
             | mkl wrote:
             | They said "languages" for a reason. There are quite a few: 
             | https://en.wikipedia.org/wiki/Click_consonant#Languages_wit
             | h...
        
               | lucubratory wrote:
               | Thank you!
        
           | dghughes wrote:
           | But those are not the only language they know though it's
           | just a different language. The parts of a person's brain
           | where language and speech exist are already developed. It's a
           | mix of several areas for comprehension, speech, flow of
           | speech - it's quite complex and not a single spot in a
           | person's brain.
        
             | dghughes wrote:
             | Then again ruining the point of my own comment what about
             | cochlear implants?
        
         | lawlessone wrote:
         | Even still there's plenty of situations where this could save
         | his life.
        
         | spywaregorilla wrote:
         | How are born deaf people able to learn to speak if this is the
         | case?
        
           | stank345 wrote:
           | The sensory medium is separate from one's capacity to learn
           | and use language. Sign languages have grammar, vocabulary,
           | "accents" etc just like spoken languages.
        
             | zamadatix wrote:
             | I think they mean how can a person born deaf learn to make
             | speech if the above quote says this individual will not be
             | able to speak a language. I think the answer to that is
             | it's more "they won't be able to make speech like a person
             | born with hearing would do by listening and naturally
             | learning" rather than "they won't be able to try to make
             | sounds with their voice they are not able to process
             | auditorily".
        
               | spywaregorilla wrote:
               | Moreso comprehend it. It seems impossible to suggest that
               | a person could learn to vocalize language but not to
               | understand those vocalizations. It may be impossible in
               | spite of what it seems.
        
           | janeerie wrote:
           | Deaf children can be taught to speak by very explicitly
           | demonstrating tongue/throat position. It's a pretty arduous
           | process and has fallen out of favor, so most deaf people who
           | don't get a cochlear implant will use sign language only.
           | 
           | However, with early implantation language acquisition is
           | relatively easy (thought it varies per child).
        
         | smeej wrote:
         | Is it the capacity to learn to _speak_ a language, or the
         | capacity to learn to _understand_ spoken language that shuts?
         | Or both? It 's not quite clear from the way it's phrased here
         | if maybe the inability to speak is only a consequence of the
         | inability to understand, or if it's theoretically separable.
         | Aren't there people who learn to speak, albeit with an accent,
         | even though they have never been able to hear? So they might
         | learn to read lips and speak, even though they wouldn't be able
         | to understand a spoken language if they gained the ability to
         | hear?
         | 
         | I ask because I'm interested to know which parts of brain
         | research might eventually try to prop that door open. Granted,
         | most people born with this genetic condition would probably
         | just be treated shortly after birth and learn spoken language
         | during the normal time frame, not go through some special other
         | treatment just to prop that mental door open, but I'd still be
         | interested to understand what's actually going on in the brain
         | better.
        
           | makeitdouble wrote:
           | > Aren't there people who learn to speak, albeit with an
           | accent, even though they have never been able to hear?
           | 
           | Yes, some people go through "speech therapy" and train to
           | emit the right sounds while not hearing the output (but I
           | think they rely on the inner vibrations ?).
           | 
           | Understandably that requires a ton of training on top of
           | existing skills and not everyone ends up with something
           | workable.
           | 
           | Part of the existing skills is the the ability to vocalize
           | the sounds in the first place, and if a kid never
           | intentionally vocalized for 11 years, I wonder if their vocal
           | cords could ever develop to a point they can make the range
           | of sounds needed.
        
             | smeej wrote:
             | It does seem like the difficulty, then, must be with the
             | comprehension of spoken language, then, not strictly the
             | speaking of it.
             | 
             | I had wondered about this for awhile, how when you see
             | adults have their cochlear implants turned on for the first
             | time, sometimes they respond as though they do understand
             | what people are saying to them. I had wondered how they
             | could possibly know how to interpret the sounds as specific
             | words, even if they knew the words, but this makes it seem
             | like that's not what's happening. They're probably still
             | reading lips to understand the words themselves.
        
           | bb88 wrote:
           | There's a youtube video of Helen Keller who was both blind
           | and deaf. She learned to speak in her adult life.
           | 
           | I don't have the link handy but it's entitled: "Helen Keller
           | Speaks."
           | 
           | If you look at the video it seems she even appeared to pick
           | up the accent of her teacher.
        
             | jimbob45 wrote:
             | Was she not profoundly deaf?
        
               | bb88 wrote:
               | Well she was deaf deaf and blind blind. Not partially
               | deaf or blind. The vocalizations and mouth movements
               | could have been learned by touch.
               | 
               | Tongue movements would have been harder to learn which
               | explains why her vocalizations are hard to understand.
        
         | tedd4u wrote:
         | Came here to say I hope this can someday lead to a tinnitus
         | cure :'|
        
           | iopq wrote:
           | Funnily enough, just listening to high pitched noises reduces
           | my tinnitus:
           | 
           | https://www.youtube.com/watch?v=xUZOSg3a1rk
           | 
           | it turns out it's a "phantom limb" problem of hearing - when
           | your high pitch hearing ability decreases, you start to have
           | phantom sounds "fill in the blanks" at the frequency it got
           | worse at
           | 
           | you can test it yourself by generating sine waves and seeing
           | when your hearing becomes worse
           | 
           | https://www.szynalski.com/tone-generator/
           | 
           | mine drops off at 12.5KHz and goes almost completely silent
           | above 16KHz
           | 
           | the tinnitus frequency is about 13Khz!
           | 
           | Trying to listen to quiet noises between 12Khz and 16Khz
           | trained me to be more sensitive to those sounds and to
           | generate less tinnitus
        
             | magicalhippo wrote:
             | Ah interesting. I had noticed my tinnitus would get worse
             | when I had been sitting in silence for a while, especially
             | with over-ear headphones to further dampen ambient sounds
             | (ie album ran out and I was so preoccupied with coding I
             | didn't put another on).
             | 
             | Fortunately mine is just at a mild annoyance level so far,
             | but will try your trick.
        
         | ebiester wrote:
         | I am confused at this: the window that people speak about is
         | largely one of having any language. Aissam seems to have a
         | language, albeit an idiomatic one that was developed to
         | communicate with parents. If so, he has developed the speech
         | pathways, even if any given language will be one of second
         | language acquisition.
         | 
         | Now there may be another reason, but the article is either
         | missing context or the question was not expressed in a way
         | where the doctor answered in a way that follows the science
         | around the critical language period, as I understand it (at
         | least)
        
           | SamBam wrote:
           | Yeah, this seems confusing. Obviously his brain has a solid
           | understanding of language, and he even recently learned a new
           | language (Spanish Sign Language) so learning another language
           | should be possible.
           | 
           | It sounds like the researchers are saying there's something
           | special about learning spoken language. But it seems to me
           | that there can't have been many cases similar to his.
        
             | mlyle wrote:
             | > It sounds like the researchers are saying there's
             | something special about learning spoken language. But it
             | seems to me that there can't have been many cases similar
             | to his.
             | 
             | We've learned a lot from people who have received cochlear
             | implants at different ages. Earlier implantation is
             | strongly associated with functional spoken language use and
             | fluent speech. There's a big benefit before age 5; a large
             | proportion of those implanted before 24 months basically
             | have normal language skills, while few after age 5 ever
             | fully "catch up."
             | 
             | edit: Here's a study of prelingually deafened adult
             | outcomes with CIs
             | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5720870/ All
             | of those studied had acquired spoken language before
             | implantation and had some degree of effective hearing
             | earlier in life, so were not fully deafened before the
             | language acquisition window.
             | 
             | The implants provide an improvement of quality of life but
             | do not allow most of even this population to e.g.
             | understand spoken language on TV without subtitles.
        
               | Retric wrote:
               | Listening to TV conversations is a high bar. In
               | conversations people can ask for clarification or to slow
               | down etc.
               | 
               | Which explains: _Before implantation, 7% of the patients
               | were able to have telephone conversations._ vs _After
               | implantation, 60% of patients are able to have telephone
               | conversations._
               | 
               | Also, the technology dramatically improved over time so
               | we don't have long term data on high quality implants.
        
               | mlyle wrote:
               | Still, pay attention to context. This was people who were
               | successfully using hearing aids and oral language before
               | implantation. Even in this subpopulation, they did not do
               | _nearly_ as well as children do, even though this
               | subpopulation was less deafened than most deaf children.
               | 
               | > Also, the technology dramatically improved over time so
               | we don't have long term data on high quality implants.
               | 
               | We do have enough series to know that 5 year olds
               | receiving treatment have (on average) significantly worse
               | outcomes than 18-24mos.
        
               | Retric wrote:
               | For the timescales we have tested there's significant
               | differences, and in terms of quality of life it's clear
               | early intervention is a significant benefit.
               | 
               | However, slower adaptation isn't zero adaptation. The
               | limits for people implanted at 5 when they are 50 is
               | still an open and IMO interesting question.
        
               | mlyle wrote:
               | > The limits for people implanted at 5 when they are 50
               | is still an open and IMO interesting question.
               | 
               | Slower development usually means a lower plateau, and I
               | think we pretty much have to assume as such (and can be
               | prepared to be pleasantly surprised).
               | 
               | Else, we get to wishful thinking: older people on older
               | devices developed more slowly and plateaued at a lesser
               | value of hearing. Now, we have implanted older people on
               | newer devices, and they're developing more slowly, but
               | hey, maybe they'll _eventually_ develop fully normal
               | hearing.
        
               | Retric wrote:
               | Do you have a source for that plateau? I've read that
               | early success predicts future success on age adjusted
               | tests. But the children were still improving in absolute
               | terms over a decade post surgery.
        
               | mlyle wrote:
               | I was arguing mostly from the standpoint of delays in
               | development are almost always correlated with lower
               | ultimate attainment, no matter what measure you're
               | looking at.
               | 
               | But if you want cochlear implant specific data, here--
               | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10760633/
               | 
               | You're right that time narrows the gap between early
               | implantation and later implantation, but the slope of
               | that narrowing is pretty small by the 20 year mark (and
               | barely statistically significant in this moderately-sized
               | study) and the gap is relatively big.
               | 
               | The difference of time of implantation between the two
               | groups was relatively small (mean implantation at 45
               | months vs. 34 months) and produces a gap that's durable
               | for decades. >130 months is way, way, out from 45 months.
        
               | vladms wrote:
               | Very interesting paper!
               | 
               | Still, lots of work to do, to quote "However, it was not
               | possible to control other factors, such as the socio-
               | economic environment of the participants.".
               | 
               | In my view this could affect the study quite a lot (or
               | not, but unknown for now). They mention the initial
               | intervention was 3 months on-site, but after "the patient
               | returned to his area of residence, where he/she would
               | have speech therapy and special education".
        
               | Retric wrote:
               | Thank you, interesting read.
               | 
               | Looks like scores for both groups are still improving at
               | 25 vs 20 years so gap isn't closing. I was expecting
               | people to max out what the hardware is capable of or
               | reach normal levels, but that doesn't seem to be what's
               | happening.
        
               | mlyle wrote:
               | I was surprised at the amount of continuing improvement,
               | too.
        
               | nsxwolf wrote:
               | Never fully catching up sounds a lot different than
               | "window for learning spoken language is permanently
               | shut". Am I missing something?
        
               | mlyle wrote:
               | "Permanently shut" for everyone is probably an
               | exaggeration.
               | 
               | A better description "very, very few of those [with
               | hearing restored] after age 5, who had never had any
               | hearing before, develop anything close to normal spoken
               | language skills."
        
             | graphe wrote:
             | I recall that they trained a part of an insect's head like
             | the nasal passage and it was able to be used for language
             | better than the model at that time chatGPT2. So there's
             | something innate in nature that can learn human languages.
        
               | SamBam wrote:
               | Can you find that study?
        
               | graphe wrote:
               | Took me a few hours but it was fascinating. I couldn't
               | find it again easily.
               | 
               | https://www.discovermagazine.com/the-sciences/fruit-fly-
               | brai...
               | 
               | https://oadoi.org/10.1371/journal.pgen.1007430
        
               | SamBam wrote:
               | Cool, and thanks for search!
               | 
               | I think you may have slightly over-sold the study, though
               | -- or at least what you remembered from it.
               | 
               | My reading of the first study was that they took a
               | simulated version of a relatively large (2000 node)
               | neutral network that makes up part of a fruitfly brain,
               | and were able to do standard neutral network training on
               | it to do some language prediction.
               | 
               | I'm not sure that this says anything about fruitfly noses
               | being wired for language though. I expect that they could
               | have taken that same simulated architecture and trained
               | it to do anything that regular neutral networks could do
               | -- detect faces, make stock market predictions, play a
               | (poor) game of Go, or learn a homeowner's thermostat
               | patterns.
               | 
               | I think it's just more a statement about the power of
               | neutral networks in general.
        
               | graphe wrote:
               | I did misremember, it seems they used a network of
               | algorithms based on how flies use 2000 neurons and the
               | original article I read it from a while ago may have
               | oversold it. The fact it was able to predict well is them
               | looking for inspiration in insects, and that they'll be
               | using more insect inspired behavior.
        
           | dbcurtis wrote:
           | Language development starts earlier than most people think.
           | Babies babble with all the sounds the human vocal tract can
           | make, but by 6 months they are only babbling with the sounds
           | of the language in their household. Up to age 12 or so you
           | can learn a second language accent-free, but at that age an
           | important developmental milestone cements phonemes in place.
           | 
           | About 45 years ago I heard Chomsky speak on the idea that the
           | human brain is wired to learn a grammar as much as a bird is
           | wired for birdsong. So learning _some_ grammar is innate, but
           | the particulars are up to environment.
           | 
           | Source: 1/2 a century ago I was a bit of a developmental
           | linguistics nerd. Disclaimer: But many memories have faded.
        
             | omeid2 wrote:
             | > Up to age 12 or so you can learn a second language
             | accent-free, but at that age an important developmental
             | milestone cements phonemes in place.
             | 
             | This is only true if the second language has sounds that
             | you don't have in your first language.
        
               | dbcurtis wrote:
               | Can you name a language pair where that works? I can't
               | think of one.
        
               | iopq wrote:
               | If your native language is Ukrainian, when you learn
               | Russian you don't get more phonemes, unless you count
               | slightly different mouth positions of vowels.
        
               | dataflow wrote:
               | https://linguistics.stackexchange.com/a/30633
        
               | Tor3 wrote:
               | Oh, right. I forgot all those Dutch speed skaters who
               | used to train in Norway a couple of generations back. Ard
               | Schenk.. Kees Verkerk and many others. The majority of
               | them learned Norwegian completely accent-free (you really
               | had to listen to figure out they weren't native), despite
               | not learning the language as kids. I figured that must
               | have been because Dutch has such a variety of native
               | sounds that it basically covers Norwegian language
               | sounds.
        
             | dataflow wrote:
             | > Up to age 12 or so you can learn a second language
             | accent-free, but at that age an important developmental
             | milestone cements phonemes in place.
             | 
             | Seems... dubious? What about people who immigrate later
             | (like in high school) and actually pick up the sounds and
             | accents flawlessly? I've seen folks like that and I'm
             | pretty sure they weren't in high school at age 12.
        
               | iopq wrote:
               | Anecdotally, I know a Serbian who went to study to the US
               | for a year in high school and has a perfect Californian
               | accent.
        
               | dataflow wrote:
               | There you go!
        
               | criddell wrote:
               | > perfect Californian accent
               | 
               | Oh man, I hope they sound like this:
               | 
               | https://www.youtube.com/watch?v=dCer2e0t8r8
        
               | Tor3 wrote:
               | It's very very rare. Though it's not a cut-off at age 12,
               | it just gets more and more rare (and takes longer) from
               | around ten and older. Not sure if it's so much about the
               | vocal tract, it's more about the brain's ability to hear
               | sounds (my wife can't hear the difference between a
               | number of sounds despite having lived in my country for
               | many years and speaking the language well).
               | 
               | In all my life I've only met two 100% accent-free
               | speakers who learned my language as adults, and a third
               | one who was almost there. Everyone else has _something_ I
               | can detect. But children.. a five-year old Japanese girl
               | could repeat everything I said with perfect pronunciation
               | and intonation, first try. Slightly exceptional girl
               | perhaps, she learned the language in a very short time.
        
               | dataflow wrote:
               | > Though it's not a cut-off at age 12, it just gets more
               | and more rare (and takes longer) from around ten and
               | older.
               | 
               | I mean, nobody is disputing "it gets harder as you become
               | older". I totally believe that. Lots of things gradually
               | become harder as you grow older, and language doesn't
               | seem particularly different in that regard. The question
               | is whether that's because your body "cements phonemes in
               | place" around age 12, or whether there's something else
               | at play that's likely gradual and not such a sharp
               | boundary. The fact that it's rare might be just due to
               | the (a) effort required to learn something new being
               | higher _in general_ , or the (b) perceived RoI being
               | lower, or a ton of other factors that don't boil down to
               | "your phonemes are cemented in place"... right?
               | Anecdotally I know in at least one particular case that I
               | observed and inquired about, that person (who's also very
               | smart and hard-working in general) told me they made a
               | very deliberate effort over a handful of years to improve
               | their accent after immigrating, and that's how they
               | sounded like a native now. I totally believe that many
               | people are just unwilling to invest the effort required
               | (which certainly increases with age). I'm just finding it
               | hard to believe there's some biological force preventing
               | you from doing it past age 12, given I've seen otherwise.
               | 
               | > it's more about the brain's ability to hear sounds (my
               | wife can't hear the difference between a number of sounds
               | despite having lived in my country for many years and
               | speaking the language well).
               | 
               | That might be true for _some_ sounds for _some_ people,
               | but I also have a hard time believing it 's such a
               | general thing to the extent you're painting it here. It
               | seems more likely to me the explanation is something
               | else, like maybe nobody has managed to give her a good
               | enough explanation as to how they're different sounds.
               | (Maybe not the best example, but I had a hard time
               | distinguishing ch and s in German until someone explained
               | to me how they're each pronounced. Now I can hear them
               | much better, and pronounce them not-too-awfully too.)
        
               | Tor3 wrote:
               | The sounds my wife can't separate are sounds which aren't
               | separate in her native language - the mapping is trivial.
               | It's the same with others from her country, it just
               | varies between individuals (but strongly correlated with
               | age, and to what exposure they've had to other languages
               | when younger). And believe me, it's not about putting in
               | the effort. But to distinguish certain sounds my wife has
               | to watch my lips - this is particularly noticeable if I
               | dictate and she writes. As for training - she received
               | two years of training (30 hours a week) with expert
               | teachers who knew a lot of tricks for how to hear and
               | (not the least) pronounce sounds. Tricks that I didn't
               | know about.
               | 
               | But I've also seen this with American and some English
               | adults trying to learn Norwegian - a great many of them
               | can't hear the difference between vowels which, to me,
               | are totally different. Can't hear the difference between
               | the words "har" and "her", for example (NB: Norwegian
               | sounds. Not English vowels). It seems to take a couple of
               | years of daily ear training (or rather, brain training).
               | As always, there are exceptions. But those exceptions are
               | truly standing out.
               | 
               | (Added: As soon as there's context or visibility the
               | problem is much reduced - but it's still there, as soon
               | as there's only audio and their language level isn't good
               | enough to "select" the right words from context).
        
               | lucioperca wrote:
               | https://www.youtube.com/watch?v=qXxV2C1ri2k
        
               | eythian wrote:
               | I've noticed this within accents of the same language. My
               | own English accent has a very mild separation between the
               | _i_ and _e_ vowels in, e.g., _bitter_ and _better_. To my
               | ear they sound wildly different, but many native speakers
               | from other places and more English-as-a-second-language
               | speakers can really struggle to tell apart what I 'm
               | saying, to the point that it's usually easier for me to
               | switch languages to the local one to distinguish the
               | words if the context is ambiguous. Oddly, despite
               | noticing shifts in my accent having lived abroad for some
               | time now, this is something that hasn't budged.
               | 
               | Similarly in my (learnt as an adult) second language,
               | there are a couple of vowel sounds that aren't in English
               | and I usually have to really focus to hear them, and to
               | pronounce them correctly.
        
               | LocalH wrote:
               | The classic American example for me was always "ten/tin",
               | "pen/pin", which in my Southern neck of the woods are
               | typically homophones. My girlfriend is Midwestern, and
               | definitely pronounces the "e" more in those variants.
        
               | LastNevadan wrote:
               | My favorite example in English is this sentence: "I
               | peered at a pair of pears on the pier."
               | 
               | As a native speaker, the sounds in peer/pair/pear/pier
               | are slightly but detectable different. But non-native
               | speakers can almost never say or hear these differences.
        
               | Thorrez wrote:
               | As a native English speaker (American) I think "peer" and
               | "pier" are pronounced the same, and that "pair" and
               | "pear" are pronounced the same, but that the 2 groups are
               | pronounced quite differently.
        
               | bobmaxup wrote:
               | To be fair, they did qualify the statement with "or so".
        
               | dataflow wrote:
               | This isn't 12 vs. 12.5 I'm disputing, it's like 12 vs. >=
               | 16.
        
               | resonious wrote:
               | To take your point farther, I've met plenty of people
               | who've learned their second language as an adult and can
               | speak nearly accent free. As far as I can tell, the only
               | difference between those with and without an accent is
               | conscious effort.
               | 
               | The whole idea that there's a window that closes when
               | you're a kid has seemed a little weird to me. Adults
               | learn new vocab and grammar all the time. Learning
               | another language is the same, just a little more extreme.
               | 
               | I wonder if there's some actual scientific evidence for
               | the language learning window, and not just some
               | developmental psychology observations.
        
               | mariuolo wrote:
               | Perhaps their native languages were phoneme-rich and
               | could map those to their L2?
        
               | otikik wrote:
               | > people who've learned their second language as an adult
               | and can speak nearly accent free
               | 
               | Perhaps it's just a capacity that some people have,
               | similar to perfect pitch hearing. Possible, but rare.
        
               | Jorge1o1 wrote:
               | Funny that you mention perfect-pitch because in a similar
               | vein it seems like one of those things that can be taught
               | but the window closes very early in childhood.
               | 
               | https://journals.sagepub.com/doi/abs/10.1177/030573561246
               | 394...
        
               | tough wrote:
               | I was gonna bring this relation of also being a skill
               | needing to be developed in early age, but you beat me to
               | it.
               | 
               | good thing there's already a drug for that
               | https://www.npr.org/2014/01/04/259552442/want-perfect-
               | pitch-...
               | 
               | science is never fixed is it
        
               | yodsanklai wrote:
               | > To take your point farther, I've met plenty of people
               | who've learned their second language as an adult and can
               | speak nearly accent free.
               | 
               | I've seen some instances of this, for instance Russians
               | learning French.
               | 
               | My guess is that it's possible if the native language
               | phonemes are a superset of the second language.
        
               | nlpparty wrote:
               | Russian doesn't have the guttural 'r' of French.
        
               | megablast wrote:
               | It's not accent free, you learn the accent when you learn
               | the language.
        
               | poulsbohemian wrote:
               | >As far as I can tell, the only difference between those
               | with and without an accent is conscious effort.
               | 
               | In my completely unscientific sampling, I'm going to
               | agree with you. This holds true too for native speakers
               | who make no effort to improve their grammar and
               | vocabulary. If one wants to be a better speaker, writer,
               | and communicator, they will be by effort.
        
               | radicalbyte wrote:
               | It's bullshit. I can speak Dutch without an English
               | accent and I learned the language in my 20s, having 0
               | exposure to it in my youth.
               | 
               | There are to main sounds which are in Dutch but not
               | English ([ui] and the hard [G]) and one which isn't in
               | some English dialects (the rolling [R]). However you can
               | absolutely learn them as an adult. It just requires
               | serious training (years of hard practice, same as with
               | sports). You literally have to build up the facial
               | muscles.
               | 
               | One thing I will admit: I choose not to pronounce the
               | [ui] sound properly due to a combination of being lazy,
               | identifying as an Dutch-as-second-language speaker and
               | because for some absolutely irrational it sounds really
               | childish to my years. That latter point played a
               | surprising role in my lack of ability with the French
               | language. It feels theatrical in the way that certain
               | queer people choose to project their speak and I do not
               | want to project as being something I am not (or be
               | confused as someone making crude n-phobic caricatures
               | which would be 1000x worse because it could make someone
               | else feel insulted). Honestly it's probably a tick I have
               | from being raised to be a polite British gentleman :)
        
               | darkerside wrote:
               | I've noticed that some people speak foreign languages
               | with what I consider to be quite poor accents, but they
               | enunciate strongly. If they are smiling, it almost comes
               | off to me like they are making fun of the language or
               | just pretending they can speak it well. To the point I've
               | laughed along with them before realizing my mistake and
               | cringing.
               | 
               | And then I wonder which of us is more fluent? The one who
               | with the better accent or the one who can more
               | confidently project their thoughts in that language
               | regardless of "skill"? (Probably the latter)
        
               | 4gotunameagain wrote:
               | Yea but you are talking about two languages that as you
               | correctly pointed out only a few phonemes are different,
               | with very similar phonology, stress, etc. They are very
               | closely related.
        
               | vik0 wrote:
               | I feel like we're so deep in the thread - where after
               | people have time and time again disproven the original
               | comments message about how being 12 years old is some
               | magic cut-off point to language learning - there are now
               | people who just keep adding different requirements,
               | leading this conversation nowhere and making the new
               | point unfalsifiable and - by extension - unscientific;
               | whereas the original comment had an allure of having a
               | modicum of scientific rigor behind it (which, in the end,
               | was disproven)
        
               | radicalbyte wrote:
               | I think that the original comment has some anecdotal
               | truth - because the vast majority of people do not spend
               | the effort required to speak their second/third languages
               | without an accent. You have to do silly exercises and
               | stuff for very little gain in the end. You're better off
               | learning a 3rd language.
               | 
               | Professional Actors do it all the time, they spend a lot
               | of time practicing (and I assume money) being trained by
               | Speech Therapists to different perfectly.
        
               | darkwater wrote:
               | My anecdotal example: Italian living in Catalonia (for a
               | few years now, but moved as an adult), I speak both
               | Catalan and Spanish with no Italian accent and what's
               | even "worse", I speak Italian with Spanish accent ^^;
               | 
               | I know these languages are all very similar, so that
               | helped a lot for sure, but the 12 years rule is
               | definitely not absolute.
        
               | linuxftw wrote:
               | Indeed. Sounds like another 'replication crisis' paper in
               | action.
        
             | hiAndrewQuinn wrote:
             | Oh, rad, I didn't know accents worked like that! So if I
             | speak to my kids in English, and my wife speaks to them in
             | Finnish, they'll get to grow up with a disconcerting mix of
             | newscaster English and northern Finnish drawl.
             | 
             | I wonder if getting exposed to a bunch of languages as a
             | kid is why I have a (relatively) mild accent in Finnish
             | now, despite only starting to learn at 26 or so.
        
               | vintermann wrote:
               | For the two-language trick to work, both languages need
               | to be equally useful for the kids. My sister and her
               | Canadian husband tried having her speak to them in
               | Norwegian, and him in English, but as soon as they
               | understood that she could speak and understand English,
               | but he could not speak or understand Norwegian, the kids
               | switched to English. They still understand Norwegian, but
               | they speak little of it and with a heavy English accent.
        
             | compsciphd wrote:
             | https://www.scientificamerican.com/article/evidence-
             | rebuts-c...
        
               | _flat20 wrote:
               | https://blogs.scientificamerican.com/cross-check/is-
               | chomskys...
        
               | compsciphd wrote:
               | that's not much of a defense
               | 
               | "Another problem with the claim that Chomsky's theory of
               | language "is being overturned" (as if it had ever been
               | accepted, which is not true), is that it's not clear what
               | "Chomsky's theory of language" refers to. He has proposed
               | a succession of technical theories in syntax, and at the
               | same time has made decades of informal remarks about
               | language being innate, which have changed over the
               | decades, and have never been precise enough to confirm or
               | disconfirm."
        
               | foobarqux wrote:
               | There are a bunch of ideas that are more core and
               | strongly supported (language is innate) which you use to
               | explore more tenuous ideas about what the implications
               | are and how they specifically manifest. Linguistics is an
               | extremely nascent field compared to other sciences,
               | Chomsky calls our stage of understanding "pre-Galilean",
               | no one has claimed to have solved the basic questions yet
               | so it isn't surprising that anything other than the core
               | ideas are in constant flux. I haven't seen a good counter
               | argument to the core ideas of universal grammar (or the
               | minimalist program) and to refute an idea you need to
               | actually present a counter-argument not simply say some
               | sub-hypothesis has been refuted in the past so every
               | fundamental idea has been refuted.
               | 
               | See also https://ling.auf.net/lingbuzz/007363
               | 
               | The SciAM article you linked doesn't understand the
               | arguments Chomsky makes when "refuting" them (e.g. they
               | erroneously say that superficial differences between
               | languages show that there is no universal grammar).
        
               | compsciphd wrote:
               | I thought I read an article one that some very untouched
               | tribes (ala amazon?) have fundamental different ways of
               | communicating that undercut Chomsky's notions of
               | universal grammer. Which the SciAm article glances on,
               | but doesn't really go into any depth.
        
             | Anotheroneagain wrote:
             | It's because you lose the ability to form new abstractions
             | once your neocortex shuts down. The sensory areas begin
             | shutting down quite early (around five) for most. You can
             | only hear which category the sound belongs to + the error
             | ("accent" in this case) and lack the ability to perceive
             | finer nuances after it happens.
        
             | runlaszlorun wrote:
             | My personal experience actually maps to this exactly and,
             | when I've encountered it, it's been a far more predictable
             | rule than I would have thought. This is anecdotal I know,
             | and I've even looked up the science on this and it seems
             | like isn't as black and white as my experience would
             | indicate.
             | 
             | But by now I've actually asked this of prob 20-30 people.
             | All of them who came to the US before 12 (or attended
             | American international schools overseas) had no accent. And
             | all of them except two who had come here at 14 or later had
             | at least a hint of an accent. There are the few like the
             | one Hungarian I met who had no English other than spending
             | 3 months in the US and whose English was so spot on I
             | actually thought he was American.
             | 
             | In my experience it does seem that there's something about
             | the brain's plasticity that changes around 13ish. For
             | example, I started programming young and also had took
             | physics early at my local college and seem to internalize
             | those much better than, for example, the follow-on physics
             | course I took later on.
             | 
             | But if anyone knows the science better feel free to correct
             | me! A neuroscientist I am not...
        
               | i2shar wrote:
               | This is well known and well studied. I highly recommend
               | Sapolksy's lecture on this:
               | https://youtu.be/SIOQgY1tqrU?feature=shared
               | 
               | Start at 12:14 for the relevant topic, but the entire
               | lecture is a good watch.
        
             | js2 wrote:
             | Relevant _This American Life_ episode:
             | 
             | > Jiayang Fan has this theory that because she's spent so
             | much time thinking about her own accent when she speaks
             | English, she believes that when she hears other Chinese-
             | Americans speak, she can tell how old they were when they
             | immigrated to the U.S. (7 minutes)
             | 
             | > We test Jiayang Fan's self-proclaimed special skill by
             | having her listen to three Chinese-Americans speak, and
             | then guess when they came to the U.S. (20 minutes)
             | 
             | https://www.thisamericanlife.org/786/its-a-game-show
        
           | foobiekr wrote:
           | Audio processing is a bit light sight processing - once you
           | miss the critical development period, which is not directly
           | related to the "critical period" for language learning, you
           | will never actually develop them. People can develop
           | something, for example people who had oxygen-destroyed
           | corneas causing blindness who later got corneal transplants,
           | but it will never be vision as you know it.
        
             | Tor3 wrote:
             | Search "kitten vertical lines experiment" on the Famous
             | Search Engine. Kittens not allowed to see horizontal lines
             | for the first few months would never be able to see
             | horizontal lines, ever.
             | 
             | It's at least somewhat like that with humans too. Ever
             | wondered why some kids are wearing a patch over one eye? If
             | the child needs glasses but (in particular) when they
             | didn't get proper correction early on then they may have
             | double vision, and what the brain does is to block one eye.
             | That eye, despite "seeing", will lose the paths in the
             | brain necessary for seeing well. The patch forces the brain
             | to start using the eye again.
             | 
             | This happened to me - the doctor told my father "no need to
             | check this regularly", and after some years one of my eyes
             | had indeed lost resolution. It's still like that. One eye
             | can see very well, the other at much lower resolution.
             | Though I found that even at middle age it was possible to
             | improve that to some extent - not the actual resolution,
             | but the brain's ability to actively use the eye could be
             | improved a little. I would read books with only one eye.
             | Could only read half a page at the beginning. But it's
             | impossible to recover the vision I lost as a child, which
             | was caused by the brain ignoring the eye.
        
               | wildylion wrote:
               | I have the same however my other eye is fine with regard
               | to resolution - I just need glasses or a contact lens.
               | 
               | But yes, the binocular vision is permanently shot (though
               | I get some improvement at times).
               | 
               | That's what you get for being an insufferably stubborn
               | kid.
        
               | branko_d wrote:
               | I have the same situation.
               | 
               | The annoying part is that my "untrained" eye is not near-
               | sighted, but my "trained" eye is. I suspect it was
               | different in the childhood (untrained: far-sighted,
               | trained: not far-sighted) and then shifted in the
               | direction of near-sightedness over time.
        
           | hoseja wrote:
           | The ad-hoc language (generically called "kitchensign"
           | apparently?) might be too primitive.
        
           | lofaszvanitt wrote:
           | Maybe the brain's plasticity. I read somewhere, a long time
           | ago, that brain nerve cells wonder around and do their thing
           | based on incoming stimuli when the child develops. During
           | very early age a lot of things can be corrected by the brain
           | if something goes sideways, thanks to the plasticity of these
           | nerve cells, but after a while, when the nerve cells "settle"
           | and "conquer their role", they cannot change anymore.
        
           | chriskanan wrote:
           | Sensory and motor systems have critical or sensitive periods
           | early in life and then the neural network is pruned and the
           | critical period closes. This is why second language
           | acquisition is much easier at younger ages. There are some
           | drugs that may reopen the critical period although not much
           | can be done about the pruning. So basically all the early
           | neural circuits for interpreting sounds are not organized
           | correctly and it's unclear if they can be post critical
           | period.
        
         | jv22222 wrote:
         | You probably know about all about meniere's. If not, have you
         | tried going off salt?
        
           | Etheryte wrote:
           | Have you tried going off pseudoscience?
        
             | holdsleeper wrote:
             | What part of their comment was "pseudoscience"?
        
               | JumpCrisscross wrote:
               | > _What part of their comment was "pseudoscience"?_
               | 
               | Is hypernatremia a cause of Meniere's?
        
               | MathMonkeyMan wrote:
               | Reducing salt might help with symptoms[1].
               | 
               | [1]: https://www.mountsinai.org/health-library/special-
               | topic/m-ni...
        
         | fouc wrote:
         | I suspect this is a reference to the neural mapping around
         | auditory signals, but given that the brain is still capable of
         | changing at any point in life I disagree it's "permanently
         | shut"
        
         | blitz_skull wrote:
         | I find this incredibly hard to believe with all of the research
         | on neuroplasticity. Not to mention there's a VERY famous case
         | that proves this is not a hard and fast rule: Helen Keller.
        
           | bradrn wrote:
           | Helen Keller had already learnt a 'home sign' system, which
           | was presumably language-like enough to allow her to learn
           | English later.
        
             | avarun wrote:
             | And this kid knows sign language too.
        
           | hmcq6 wrote:
           | I just can't imagine we have that much hard data on the
           | topic. Unless there have been massive breakthroughs in
           | hearing aid tech that I'm unaware of.
           | 
           | Cochlear implants are amazing but my understanding is they're
           | not 100% restorative. To make a bad metaphorical comparison
           | with blindness, they're like glasses that restore your vision
           | but if the only shape produced were shutter shades.
           | 
           | (pic for reference: http://lh6.ggpht.com/nML2bdK30Z0OS3cHBINn
           | LcXCv6XVI8dWpLvMu8m...)
        
           | phire wrote:
           | Worth keeping in mind that Helen Keller didn't loose her
           | hearing (and sight) until an illness at 19 months old.
           | 
           | At this age, a child's brain has already locked in the sounds
           | for their native language and lost the ability to learn non-
           | native sounds (hell, research suggests that unborn infants
           | can recognise the difference between their mothers native
           | language and foreign languages before they even leave the
           | womb). The typical child will have been using single word
           | sentences for months and just starting to move onto two word
           | sentences.
           | 
           | Keller might have regressed to zero language abilities after
           | her illness, but she didn't need to start completely from
           | scratch when she learned how to speak.
        
             | SnazzyJeff wrote:
             | > Worth keeping in mind that Helen Keller didn't loose her
             | hearing (and sight) until an illness at 19 months old.
             | 
             | While this is in fact an important sample, this doesn't
             | imply much about how humans develop after 19 months, much
             | less how they develop before 19 months.
             | 
             | > At this age, a child's brain has already locked in the
             | sounds for their native language and lost the ability to
             | learn non-native sounds (hell, research suggests that
             | unborn infants can recognise the difference between their
             | mothers native language and foreign languages before they
             | even leave the womb).
             | 
             | We have nearly zero clue _how_ the child 's brain
             | recognizes their "native language". We know they react
             | differently at different stages of their development to the
             | same stimulus, which is occasionally linguistic. We have
             | nearly zero clue what the mechanism is that corresponds
             | input to measurable output. This is a very disingenuous
             | characterization of the data.
             | 
             | It's also worth mentioning that the root of this question
             | is trivially false--people obviously learn language after
             | the age of five. Such haphazard presentation (at best)
             | should not be taken seriously.
        
           | SnazzyJeff wrote:
           | Hellen Keller never developed the skill to listen to spoken
           | language.
           | 
           | I agree with you fwiw, but your argument needs to acknowledge
           | the above statement.
        
             | blitz_skull wrote:
             | Hellen Keller was deaf. How could she _develop_ the ability
             | to listen to a spoke language?
        
           | SnazzyJeff wrote:
           | if only this site could manage something more complicated
           | than the dialectic of "not retarded enough for y-combinator"
           | and "too retarded for y-ycombinator"
           | 
           | one day, y-combinator will give a shit about disability.
           | There is not enough money in the game for the powers to be to
           | care yet.
        
         | heyoni wrote:
         | Is this one in deaf children or others with receptive language
         | but no ability to speak?
        
         | SnazzyJeff wrote:
         | > Gives me hope that one day my tinnitus may have a cure.
         | 
         | We are all chained to reality. We must all accept reality or
         | kill ourselves trying to.
        
         | SnazzyJeff wrote:
         | > But no matter how well the gene therapy works, the
         | researchers recognize that Aissam may never be able to
         | understand or speak a language, Dr. Germiller said. The brain
         | has a narrow window for learning to speak beginning around ages
         | 2 to 3, he explained. After age 5, the window for learning
         | spoken language is permanently shut.
         | 
         | This is trivially false. How are you acting like this person
         | can be taken seriously? At best, they're wildly hyperbolic in
         | their statements. At worst, they're funded to push a polemic.
        
           | MathMonkeyMan wrote:
           | How is it trivially false? I know nothing about it.
        
             | judge2020 wrote:
             | Maybe the quote is about the critical period hypothesis[0],
             | which is not universally accepted.
             | 
             | 0: https://en.wikipedia.org/wiki/Critical_period_hypothesis
        
             | SnazzyJeff wrote:
             | Well, the part that was claimed. "The brain has a narrow
             | window for learning to speak beginning around ages 2 to 3,
             | he explained. After age 5, the window for learning spoken
             | language is permanently shut." The person seems to mistake
             | the term "speech" for the phrase "language comprehension"--
             | the field moved past that decades ago.
        
               | iteria wrote:
               | I was extremely confused by this statement because
               | well... I exist. I didn't start speaking until around 5
               | because of various health issues and I wouldn't say I was
               | reasonable at it until I was a preteen, but I definitely
               | acquired language, just extremely slowly.
        
           | Tor3 wrote:
           | I too have to ask why this is "trivially false". We hardly
           | have even anecdotal references to people who never heard
           | language until after five (except for stories about children
           | raised by wolves and couldn't learn to speak - not exactly
           | stories we can trust).
           | 
           | Of course that's goes the other way too - which studies are
           | Dr. Germiller referencing? But again - if it was "trivially
           | false" this would mean that it's something generally known
           | because it's observable. And it isn't, as far as I'm aware.
        
         | TomK32 wrote:
         | The brain is a surprising organ, it's only been four month
         | since the kid can hear anything and maybe the brain is powerful
         | enough to use this first-time influx of new impulses as the
         | same start when learning language as a baby. After all, the
         | brain needs 25 years to fully form.
        
         | mannyv wrote:
         | The problem with these kinds of statements is they're
         | impossible to test. They depend on 'found' examples, like kids
         | raised by wild animals.
         | 
         | But those kids were different.
        
         | anonymousnotme wrote:
         | It is my understanding that psychedelics can open up that
         | learning window. I wonder if that could be used to benefit in
         | this case. (I imagine a lot of people might be opposed to
         | having a minor take psychedelics; but if it works, does it
         | matter?)
        
         | joedevon wrote:
         | Look up neosensory. They are a company by David Eagleman who
         | has some amazing TED Talks. They have a product that treats
         | tinnitus.
        
       | coderintherye wrote:
       | Looking up Otoferlin (the gene in question) led to this
       | accessible and understandable paper:
       | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5283607/ (2016)
        
         | somethoughts wrote:
         | Also a slide deck/presentation that seems related by Akouos -
         | the original biotech company that Eli Lilly acquired.
         | 
         | https://akouos.com/wp-content/uploads/2021/05/2021_0503_ASGC...
        
       | chewmieser wrote:
       | Gift article link:
       | https://www.nytimes.com/2024/01/23/health/deaf-gene-therapy....
        
       | karaterobot wrote:
       | > Some Deaf parents, he added, celebrate when their newborn
       | baby's hearing test indicates that the baby is deaf too and so
       | can be part of their community.
       | 
       | Tough one. You want to respect the wishes of the parents, but you
       | also want the kid to have the option to hear (and understand
       | spoken language) when they are an adult and can make their own
       | decisions. You may not be able to have both, given that this kind
       | of deafness is progressive, and even with gene therapy you
       | evidently need to treat it when young to give the child any hope
       | of hearing. What if it turns out the kid wants to be able to
       | hear, but by the time they are of age, it's too late and their
       | inner ear's hair cells are all dead?
        
         | throwuxiytayq wrote:
         | Moronic tribalism at its worst. This is why we can't have nice
         | things.
        
           | BurningFrog wrote:
           | We have nice things!
        
         | Loughla wrote:
         | Deaf culture (with a capital D) is a fascinating study in what
         | it means to have a disability.
         | 
         | The definition of disability is impairing one or more major
         | life function. Capital D says that's not them. They just
         | communicate differently.
         | 
         | So. If they have that culture, is it bad for them to celebrate
         | that they can share in it with their children?
         | 
         | For reference, I think it's bad. But I can see the logic.
        
           | oefnak wrote:
           | You don't need to be deaf to communicate with deaf people,
           | right? You could learn sign language either way.
        
             | actionfromafar wrote:
             | What does it mean to _be_ a bat? (Not just be able to talk
             | to one.)
        
               | throwuxiytayq wrote:
               | Are deaf people a different species now?
        
               | malnourish wrote:
               | They're referencing a philosophical essay on the nature
               | of conscious experience
        
           | themaninthedark wrote:
           | I can't understand it.
           | 
           | Someone who is deaf has a large number of obstacles to
           | overcome and it is amazing that they are able to do so.
           | 
           | Neuro-Atypical people could make the same argument, they just
           | think and process things differently.
           | 
           | But why wish that your children or anyone else has to
           | overcome the same obstacles?
        
             | cortesoft wrote:
             | > Neuro-Atypical people could make the same argument, they
             | just think and process things differently.
             | 
             | Many have. There is a major movement in the community to
             | treat neurodivergence as something other than a disability.
        
               | overstay8930 wrote:
               | I'm surprised it's taken so long for academia to catch
               | up, militaries have figured out decades ago that these
               | "disabilities" are just people who are good at different
               | things and are assigned tasks that they can do much
               | better than the average person.
               | 
               | It is no coincidence that people with ADHD are drawn to
               | certain fields, for example.
        
               | rocqua wrote:
               | Do you have any such examples? Only thing I know of in a
               | military context is colorblind people being better at
               | defeating camouflage, and I believe that isn't actually
               | used in practice.
        
               | overstay8930 wrote:
               | Israel Defense Forces is probably the best example (they
               | were the first to put it in practice publicly):
               | https://www.businessinsider.com/army-autistic-people-
               | israel-...
               | 
               | You can see hits of it through Five Eyes, cybersecurity
               | is hot if you are autistic as well:
               | 
               | https://www.independent.co.uk/news/uk/home-news/gchq-
               | jobs-re...
               | 
               | https://hbr.org/2017/12/why-the-australian-defence-
               | organizat...
        
               | 331c8c71 wrote:
               | It gets even funnier. Some autistics claim that it's the
               | "normies" who are messed up with all their emotions,
               | irrationality and social status games. Lots of that on
               | reddit.
               | 
               | It's an immense rabbit hole btw trying to understand how
               | autistics experience life and interactions. I was totally
               | unaware of all this until I met someone who interacted in
               | a very unusual way (to put it mildly)...
        
             | IAmNotACellist wrote:
             | They have obstacles to overcome, but those obstacles are
             | mostly imposed on them by the wider culture, as I've come
             | to understand it. Having spent 4 years learning ASL and
             | being close friends with a lot of deaf people now, I'm
             | starting to conclude that ASL and especially technology
             | makes it clear it doesn't have to be a disability at all,
             | at least for people who were born deaf. Losing a sense is
             | still quite a disability.
        
             | rocqua wrote:
             | I believe people with down-syndrome have a similar
             | community with similar worries. The worries are more about
             | genetic screening shrinking their community than about
             | children, but I feel like the sentiment of wanting to
             | protect and share their community is the same.
        
           | mbil wrote:
           | A little off topic, but the 2019 movie Sound of Metal
           | explores some of deaf culture and is a pretty excellent film
           | for anybody interested.
        
           | at_a_remove wrote:
           | I'm curious to know if their stance and logic extends to
           | taking government money, registering as disabled for any kind
           | of benefit, and so forth. If it isn't a disability, don't
           | take the money.
        
             | graphe wrote:
             | If you can't get aid for it, I don't think it's classified
             | a disability. What if they get rid of it later? I
             | registered for adhd in my old school and I don't even
             | mention it anymore since I didn't need the extra time for
             | exams.
        
           | coffeemug wrote:
           | This argument is a classic case of "Yeah, sure, I mean, if
           | you spend all day shuffling words around, you can make
           | anything sound bad, Morty."
        
           | kelnos wrote:
           | I see the logic, but it feels rooted in a sort of state of
           | extreme denial, based on a false starting premise. Deafness,
           | in our world, is a disability. Not being able to hear does
           | actually exclude you from a lot of things that us hearing
           | folks take for granted for the most part. I think it's
           | amazing that so many deaf people are able to function in the
           | world as well as they can. They _should_ be proud of what
           | they 've accomplished.
           | 
           | But... man, no no no no. And it's not just communication,
           | either. Like... deliberately denying a child the opportunity
           | to hear birdsong, raindrops landing on a roof, the crashing
           | of ocean waves, their cat purring and meowing at them. Hell,
           | being able to listen to human-made music, more than just
           | feeling the vibrations if it's loud enough and the speakers
           | are on the floor. That's criminally abusive.
           | 
           | If parents had a child with normal hearing, and deliberately
           | damaged it to make the child deaf, we'd call that abuse. Why
           | is refusing a treatment to restore hearing not at least in
           | the same ballpark?
        
           | RoyalHenOil wrote:
           | I guess the question for me is, if they have a hearing child,
           | what's stopping that child from being a part of their
           | parents' culture?
           | 
           | If a Deaf couple had two children, one with hearing and one
           | without, would the hearing child be excluded from the
           | community and only the non-hearing child welcomed?
           | 
           | Or is the worry that the hearing child will leave the Deaf
           | community and move on to greener pastures once they grow up,
           | while the non-hearing child will have no choice but to stay?
           | 
           | Either way, it paints a pretty grim picture.
        
         | PlunderBunny wrote:
         | Wouldn't a child that can hear (and therefore speak) born to
         | deaf parents also learn sign language as a matter of course?
         | I.e. they would be able to communicate with their parents in
         | the parent's preferred medium either way.
        
           | akoboldfrying wrote:
           | Yes, they could also learn to sign, just as children growing
           | up in bilingual families learn both languages without issues.
           | This puts to bed any question over whether the child can
           | participate in the parents' community.
           | 
           | I firmly agree with another commenter that any deliberate
           | effort to restrict a child's sense experience is child abuse.
           | I'll add that I think it's about the most selfish thing I can
           | imagine, and that I put it in the same category as female
           | genital mutilation.
        
             | lacrimacida wrote:
             | I dont think this is happening too often and I also have a
             | hard time understanding how this could be put into practice
             | unless the community is isolated and cultish. Hearing abled
             | children will develop more or less their hearing naturally.
             | If they're not completely isolated they will learn to
             | communicate with others even without their parents help.
        
         | Modified3019 wrote:
         | Denying their child an entire sense because the idea of the
         | child having a full human experience makes the parent feel
         | lonely, is straight up child abuse. Good parents want what's
         | best for their child, not themselves.
        
           | richbell wrote:
           | A popular belief in the Deaf community is that having hearing
           | children is undesirable. Some people argue that things like
           | cochlear implants are "genocide."
        
             | KingMob wrote:
             | Reminds me of the rabbis accusing Jewish people of marrying
             | non-Jews as participating in a "Silent Holocaust". Way to
             | drive people away, my dude.
             | 
             | In some ways, it's a moot point, since iiuc, most deaf
             | children are born to hearing adults, and not within the
             | Deaf community. Genetic treatments will almost certainly be
             | preferred by those parents, and the Deaf community will
             | slowly age up and die out in a few generations for lack of
             | replenishment.
        
               | kelnos wrote:
               | Well, a few generations after _all_ types of congenital
               | deafness are treatable. The gene therapy in the article
               | so far only treats one, fairly uncommon, genetic cause.
        
           | IAmNotACellist wrote:
           | >makes the parent feel lonely
           | 
           | You misunderstood. It says some of them celebrate that their
           | child will have the opportunity to be a part of their
           | community and culture. From what they've experienced, they
           | can see it'd be a profound shame if their child isn't able to
           | participate in something they've had so much positive
           | experience from. Though that's not universally true. Also a
           | child growing up hearing with deaf parents will have a whole
           | set of problems that they would find challenging to meet, and
           | could fear not being able to help.
           | 
           | On top of that, cochlear implants are not miracle devices,
           | and as I understand it, deaf children who get it will still
           | have significant hearing and speech issues and may end up
           | isolated from both sides.
        
             | kelnos wrote:
             | Regardless of the deaf community potentially being a place
             | of rich, positive culture, deafness is still a disadvantage
             | and a burden in everyday life.
             | 
             | I get that people need to accept things like deafness or
             | blindness, and adopting a community and sharing the support
             | that provides is a big part of that. But denying your child
             | treatment that would allow them to have all their senses,
             | because you want them to be a part of your community and
             | culture, is a selfish act, full stop. If parents are
             | expected to try to give their child the best life possible,
             | a treatment to restore a deaf infant's hearing is a no-
             | brainer. It's table stakes. I agree that denying a child
             | that is abuse.
        
             | Tor3 wrote:
             | But many children grow up with deaf parents - one or
             | sometimes both of them. And they learn sign language to
             | perfection, as any child can learn languages to perfection.
             | It's hard to see that the ability to also hear will make
             | them not able to participate in anything.
        
               | didntcheck wrote:
               | Yep. If the "community" is excluding them for being able
               | to hear, that sounds like their problem
        
               | IAmNotACellist wrote:
               | The hearing community excluding deaf people is about a
               | million times more common
        
               | IAmNotACellist wrote:
               | >It's hard to see that the ability to also hear will make
               | them not able to participate in anything.
               | 
               | If they're hearing they won't understand the deaf
               | community, nor need it, and will miss out on what their
               | parents and other community members valued so much
        
               | scrps wrote:
               | I think some religious parents with gay kids have tried
               | that line before.
               | 
               | Deafness is a medical issue depriving a human being of a
               | naturally evolved sense that is critical to survival even
               | in a stable civilized world. Denying them that sense
               | because of identity politics is every type of wrong.
        
               | IAmNotACellist wrote:
               | 1. Hearing isn't critical to survival in our modern
               | world, at least in the West
               | 
               | 2. What you mean to say is denying people the ability to
               | regain their sense of hearing, and the medical
               | interventions you're alluding to don't do that to the
               | extent you're imagining. Our best approaches, cochlear
               | implants: don't restore hearing in the way that removing
               | earplugs would, have a large learning curve; only work on
               | some people; and the affected person's brain usually
               | can't be fully capable of understanding and reproducing
               | spoken language the way a born-hearing person would.
               | People who receive them also still rely on some amount of
               | lip-reading, sign, and apps.
               | 
               | 3. People who are adept with sign and familiar with the
               | deaf community often communicate far, far easier with
               | sign language than a hearing person communicating with a
               | deaf/HoH person who has a cochlear implant
               | 
               | To what extent do you actually have knowledge and
               | experience on the topics you're discussing?
        
               | scrps wrote:
               | A friend of mine was stabbed to death during a robbery,
               | he was from a low income neighborhood very much in a
               | wealthy western city, he was stabbed to death simply to
               | avoid him fighting back because he was a big guy so they
               | ran up on him from behind, something he would have heard
               | had he not been deaf but thank you for the lecture.
        
             | janeerie wrote:
             | Cochlear implants actually are kind of miracle devices.
             | With early implementation, deaf children can have perfect
             | speech and pretty good hearing (not perfect). We are at the
             | point where denying your child speech and hearing is a
             | choice.
             | 
             | My son is deaf, with a CI in one ear and hearing aid in the
             | other. If you couldn't see them, you wouldn't think there
             | was anything different about him.
        
         | collegeburner wrote:
         | no actually, we don't. not any more than we want to allow
         | parents to circumsise their children, or feed them garbage
         | until they have a BMI of 35
        
         | kelnos wrote:
         | My first reaction to that line in the article is that it's
         | incredibly selfish of a parent to feel this way, and then to
         | potentially deny the kid treatment that could restore their
         | kid's hearing.
         | 
         | But I agree with a sibling poster that this is actually
         | straight-up child abuse. I'm generally skeptical of people who
         | invoke child protective services for all sorts of imagined
         | things, but I think this qualifies. If a child is born deaf,
         | that deafness is treatable, and the parents refuse to treat
         | their child, that child should be removed from the care of
         | those parents, treated, and placed with a family that doesn't
         | put their own selfish needs over the health of their child.
        
           | suslik wrote:
           | But why? What if an average deaf child is happier than an
           | average hearing child because of their community support,
           | culture, and the sense of identity? I don't know anything
           | about the lives of deaf people - but it definitely looks like
           | there's something to it; what I don't get is why is it so
           | obvious to everyone else.
        
             | mchusma wrote:
             | Most people would consider deliberately damaging a child's
             | hearing permanently so they can be a part of the deaf
             | community to be child abuse. Similar to paralyzing a child
             | to be a part of that community.
             | 
             | It's great that there are communities for the disabled,
             | trauma victims, etc. But those communities should hope that
             | someday those communities are no longer needed.
        
             | kelnos wrote:
             | You won't know about the level of happiness the child
             | experiences until it's too late to reverse the damage. Or
             | if it's still possible to reverse the damage, it may be
             | difficult or impossible to acquire full spoken language
             | skills, as the article notes is the case for this 11-year-
             | old boy.
             | 
             | So the plan is to leave the child without their hearing, in
             | the _hope_ that they just _might_ end up being happier than
             | if they could hear? And we can 't run this experiment both
             | ways! There's no way to know definitively which way the
             | child will be happier. So it makes sense to me to give the
             | child the ability to go through life without having to bear
             | the burden of the disadvantages of deafness. And as much as
             | some people in the deaf community will try to tell you that
             | they have no disability, and that they just communicate
             | differently... well, that sounds like a denial-based coping
             | strategy to me. If that works for them to make themselves
             | happy and get through life, then seriously, genuinely, I am
             | glad they have that. But it feels abusive to force their
             | child to have to go through the same thing.
             | 
             | Consider a different case: parents are deaf, child is born
             | with normal hearing. What would we think if the parents
             | then deliberately damaged or destroyed their child's
             | hearing -- because they believe their child could be a
             | happy member of the deaf community and deaf culture -- even
             | if it could be done surgically, without causing the child
             | immediate pain or distress? No doctor would ever perform
             | that procedure, and we'd absolutely call that child abuse.
             | While I don't think that's _exactly_ the same thing as
             | denying a deaf child treatment, it 's IMO close enough for
             | the conclusion to be the same.
             | 
             | (And before anyone thinks to bring up religious practices
             | that forbid certain kinds of medical treatments: IMO those
             | people are child abusers too, if they deny a child a live-
             | saving or even life-improving treatment on religious
             | grounds.)
        
         | avnigo wrote:
         | CODA (2021) is a great film I'd recommend that touches on that
         | (stands for Children of Deaf Adults).
         | 
         | https://en.wikipedia.org/wiki/CODA_(2021_film)
        
       | mgl wrote:
       | Not particularly connected but for anyone interested in analyzing
       | their DNA:
       | 
       | You may get your somehow accurate (not: medical grade accurate)
       | raw DNA sequence from Ancestry DNA kit. Why from Ancestry and not
       | other similar services like 23andme? Because they probably have
       | the best accuracy for the money.
       | 
       | You may then submit your DNA code to https://promethease.com/
       | that builds a personal DNA report based on connecting a file of
       | DNA genotypes to the scientific findings cited in SNPedia.
       | 
       | You may learn a few things about yourself and your kids, which
       | may also include severe conditions which could unfold in the
       | future.
       | 
       | Sample report:
       | 
       | https://files.snpedia.com/reports/promethease_data/promethea...
       | 
       | Disclaimer: sharing your DNA is always risky
        
         | jkingsman wrote:
         | Without commenting on the risks vs. rewards of sharing your
         | genetic material, services like Nebula Genomics have reasonably
         | priced (USD$249 30x, USD$899 100x) sequencing that's extremely
         | high quality and suitable for getting into learning
         | bioinformatics, if you're willing to wait for a few months and
         | that's your jam (i.e. the data is sufficiently deep and full
         | coverage that you can get meaningful results from it as opposed
         | to the limited view of SNP analysis like 23andme or ulta-low-
         | depth sequencing).
         | 
         | The last frontier for consumer/prosumer genomics is hifi
         | sequencing for correctly getting at your hard-to-read areas
         | that are full of long repeated runs. Dante Labs offers
         | sequencing that targets this for about USD$1900, but it's an
         | evolving area in terms of bang for your buck.
        
           | derefr wrote:
           | Maybe an odd question, but -- given modern technology, if you
           | were a bio lab tech and bioinformaticist yourself, would it
           | be _practical_ to just order some used equipment off eBay and
           | build yourself a home DNA sequencing setup?
           | 
           | And if so, would it then just be a matter of _time and
           | effort_ (rather than equipment and materials cost) to do a
           | more thorough sequencing of your own DNA than any lab would
           | ever be willing to do for you?
        
             | femto wrote:
             | https://www.linkedin.com/pulse/art-possible-biohacking-
             | diy-d...
        
             | cjbgkagh wrote:
             | AFAIK the cost of consumables are amortized by doing a few
             | people's DNA sequencing in quick succession. Low cost
             | suppliers like Dante Labs will run specials where you agree
             | to wait longer and they'll fit you in with a batch with
             | other people who will pay extra for faster results. Oxford
             | Nano-pore will sell a kit that I think is $1K but the
             | training on how to use it is a lot more. Hopefully
             | technology will keep getting better.
        
             | new299 wrote:
             | I've done this:
             | 
             | https://aseq.substack.com/p/bringing-up-an-old-ebay-miseq
             | 
             | Your issues are that you will still need to purchase
             | reagents from the sequencing instrument vendor. They will
             | try and push you toward a service contract.
             | 
             | Each kit will cost ~$600 (cheapest kit) an old Illumina
             | sequencer which you can still buy reagents for will cost at
             | least $5000.
             | 
             | Doing a whole genome this way would be expensive... I'd
             | guess $10K to $20K perhaps? You'd need a lot of kits... or
             | one of the high spec sequencers (NextSeq 550 etc).
             | 
             | Alternatively you could look at getting a nanopore
             | sequencer. This will be cheap but the data quality is
             | different (and may not be comparable/require high coverage
             | for certain applications). I'd guess you could do a (30x)
             | whole genome for <$10K all inc here?
        
               | darkerside wrote:
               | What makes nanopore screening quality worse? Aren't these
               | long read sequencers that are supposed to read more of
               | the DNA strand?
        
               | jhbadger wrote:
               | The problem with Nanopore (which I've used for some
               | projects) is that the per-base accuracy is still quite
               | low. This can be helped to a degree by either high
               | coverage (basically sequencing the same area over and
               | over again with the hope that the errors are stochastic
               | and will be corrected if you take the "average" base at
               | each position) or combining it with shorter read but
               | higher quality data from Illumina.
        
           | tjpnz wrote:
           | Will Nebula Genomics share my genetic information with othrr
           | corporations or law enforcement? In what country is the
           | sequencing done?
        
             | 4gotunameagain wrote:
             | > Will Nebula Genomics share my genetic information with
             | othrr corporations or law enforcement?
             | 
             | yes, as it is stated in their website they have to comply
             | with U.S. laws.
        
               | judge2020 wrote:
               | Complying with subpenas sure, but AFAIK 23andme et al.
               | voluntarily sell access to searching DNA data to law
               | enforcement agencies. Does Nebula do this?
        
             | graphe wrote:
             | Dante doesn't and these companies use labs everywhere.
             | Dante may even lose your sample and may give you the wrong
             | data, it used labs in Italy so your data is (not) safe in
             | the "best" way possible. Dante takes longer as well. My
             | friend used them, I don't think you can choose the lab.
        
           | aloer wrote:
           | What is the expectation here for the coming years, does it
           | make sense to wait?
           | 
           | I assume this tech moves like most tech and it will only get
           | cheaper like you say but also better. Are we still in the
           | early adopter phase?
        
         | graphe wrote:
         | Your info is woefully outdated. Promethese was sold and doesn't
         | have good data, last I checked it had only old papers and
         | outdated GWAS. Neither of them are the best accuracy for the
         | money. Dante labs and nebula labs have real 100% 30x not the
         | crap 5% ancestry and 23andme have.
        
           | mfld wrote:
           | Thanks for the update, didn't know they were acquired by
           | MyHeritage in 2019.
        
             | graphe wrote:
             | 23 and me also sold data. GSK also owns the data now.
             | https://cglife.com/blog/23andme-sold-your-genetic-data-to-
             | gs...
             | 
             | Hacked too
             | https://www.theverge.com/2023/10/7/23907330/23andme-leak-
             | hac...
        
         | iamthejuan wrote:
         | I used Nebula Genomics with lifetime membership to see any new
         | medical research that affects my genes.
        
           | brcmthrowaway wrote:
           | Referral link?
        
           | mfld wrote:
           | Yes, but the type of GWAS-based reports they offer not very
           | well suited to uncover medical conditions like this.
        
           | 331c8c71 wrote:
           | One needs to remember about incentives here. Nebula or
           | similar benefits from having you as a client. Most likely
           | than not they would overplay the relevance and the
           | actionability of the variants they report.
        
         | enjaydee wrote:
         | I've got a startup in this field in Australia. We're still
         | working on the retail pipeline but we're up and running for
         | bespoke cases. We deal mostly with IVF, and then stuff like
         | CVD, and rare diseases. WGS, Methylation...
         | 
         | https://www.23strands.com/
        
         | 911e wrote:
         | Amazing news
        
         | enjaydee wrote:
         | I've got a startup in this field in Australia. We're still
         | working on the retail pipeline but we're up and running for
         | bespoke cases. We deal mostly with IVF, and then stuff like
         | CVD, and rare diseases. WGS, Methylation...
        
       | bratwurst3000 wrote:
       | Is this relevant to tinnitus? Sounds like it could help but I am
       | no expert
        
         | CommanderData wrote:
         | Not directly, but breaking it down - they've successfully
         | delivered viral code to inner hair cells.
         | 
         | I have been following Tinnitus for quite a while now and it's
         | assumed it's caused by some form of trauma to the Cochlear,
         | either auditory nerve, IHC/OHC or SGN cells. Even with
         | patient's with no record to prior trauma (potentially immune
         | system dysfunction or compromised blood labyrinth barrier /
         | BLB).
         | 
         | Now if this is continues to show success we could start seeing
         | more therapies targeting the Cochlear by way of gene therapy
         | and it potentially helping people with Tinnitus by treating
         | it's underlying cause. I.e. Regenerating lost cells in the
         | Cochlear.
        
       | ikesau wrote:
       | Does this go both ways? can we use gene therapy to make 11-year
       | old boys deaf?
        
         | copperx wrote:
         | That's the dream of many deaf parents.
        
       | aquafox wrote:
       | > His is an extremely rare form, caused by a mutation in a single
       | gene, otoferlin
       | 
       | No. Otoferlin is the _protein_ encoded by the OTOF gene. I wish
       | science journalists would be more science literal.
        
         | CreRecombinase wrote:
         | No. OTOF is the gene symbol. Referring to the gene as otoferlin
         | is perfectly legitimate
        
           | JR1427 wrote:
           | Exactly. Also, even if the gene and protein names were
           | different, real scientists wouldn't get hung up on minor
           | technical slip-ups like this, because everyone knows what is
           | meant. (Former cell biologist)
        
         | zooi wrote:
         | Did you mean "literate"?
        
       | DoingIsLearning wrote:
       | Question for the Bio people, from what I've seen gene therapies
       | so far target very narrow scope sometimes rare diseases. Is there
       | any 'broad spectrum' type gene therapy currently in the pipeline
       | of any company out there? (not specific to audiology)
       | 
       | And is the narrow scope because it is easy to control in these
       | early days or is that we simple don't know enough to make more
       | complex gene therapeutics without understanding collateral
       | damage, side-effects, for example?
        
         | kozinc wrote:
         | Being a layman too, as I understand it, it's because the
         | deafness is caused by a single (mutated) gene which makes it
         | (comparatively) easy to change. In this case, because the
         | altered gene causes a necessary protein to be faulty or
         | missing, gene transfer therapy can introduce a normal copy of
         | the gene to recover the function of the protein.
         | 
         | For other diseases caused like this you're mostly right on the
         | money - sometimes because while a single gene might be the
         | culprit, the mechanism is unknown, sometimes mutations in some
         | 'single-gene disorders' may not be in a single-gene at all, not
         | to even mention other possible interactions or the risks
         | inherent to gene therapy.
        
         | salubrioustoxin wrote:
         | Yes. Also, even within rare disease this application has
         | desirable features. Obvious bio marker (hearing), relatively
         | isolated organ system with obvious delivery method (inject into
         | cochlea). main downside is that there is an existing
         | alternative (implant) so risk/benefit question is less obvious
         | compared to eg neurodegenerative diseases.
        
           | DoingIsLearning wrote:
           | Is delivery critical or just get it close enough to tissue in
           | ROI?
           | 
           | Are we aiming to modify specific cells/layers? And what
           | happens to adjacent tissue that is 'accidentally' modified?
           | 
           | Do you have any literature recommendations on the state of
           | the art in Gene Therapy 'delivery' mechanisms/apparatus?
        
         | huytersd wrote:
         | EBT-101 is an experimental procedure where they try to use
         | viruses to excise the HIV retrovirus DNA from every cell in
         | your body.
        
       | smallhands wrote:
       | language he invented and had no schooling.
       | 
       | Last year, after moving to Spain, his family took him to a
       | hearing specialist, who made a surprising suggestion: Aissam
       | might be eligible for a clinical trial using gene therapy.
       | 
       | Exploitation. I wonder how much this doctor get paid for this !
        
       | formvoltron wrote:
       | Was this via gene transfer?
       | 
       | Any idea how far off we are from overwriting entire genes with
       | known perfect copies?
       | 
       | And if we can do that, then how much longer before we can
       | iteratively overwrite segments until we've overwritten the entire
       | genome in every cell with a perfect copy (derived by merging the
       | sequences of many of our mutated cells)?
        
       | verisimi wrote:
       | I don't get this gene treatment at all. We are told:
       | 
       | > The gene therapy consists of a harmless virus carrying new
       | otoferlin genes in two drops of liquid that are delicately
       | injected down the length of the cochlea, delivering the genes to
       | each hair cell.
       | 
       | You just squirt some medicine near the cells, and then the cells
       | are sorted? This is no explanation at all.
       | 
       | You could say, 'the cells absorb the protein and as the completes
       | the bio-circuit, it is now activated correctly and the patient
       | can hear'. Obviously I just made that up! But how does the thing
       | work?
       | 
       | Eg, if this was cancer and you operated to take the cancer out,
       | fine - I get the principle. It if it's chemo, you insert some
       | chemicals typically and it kills the cancerous growth, I get that
       | too.
       | 
       | But what is the gene therapy doing, at an engineering level? It's
       | a mystery to me.
       | 
       | Frankly, while I can understand a gene therapy working when
       | treating a fetus, I don't get how it can work once the cells are
       | developed and in place. I'm sure I'm dumb, but there it is.
       | 
       | The whole article reads like a gene therapy promo, with no
       | details that help understanding what the treatment is. You might
       | as well say 'magic'.
        
         | immersible wrote:
         | It is funny that this supposed hereditary deafness is caused by
         | what they call a "nonsense mutation".
         | 
         | "Yasunaga S. et al. (1999) showed that the affected individuals
         | in this family were homozygous for a nonsense mutation in the
         | OTOF gene. "
         | 
         | (retrieved in 2024/jan/24 from
         | https://www.sciencedirect.com/topics/biochemistry-
         | genetics-a...)
        
         | tsol wrote:
         | It's kind of amazing. The issue is that the cells have a
         | dysfunctional copy of the OTOH gene, which leads to production
         | of a dysfunctional otoferlin protein that does not work. There
         | are virii that inject their DNA into cells. They modify one of
         | these to make them inject a working copy of the OTOH gene into
         | the cell. Cells have a mechanism where if there is a gene
         | floating around nearby it will sometimes pick it up and
         | integrate it. This is the process that is exploited in gene
         | therapy to change individual cells to produce the correct
         | protein. If enough cells produce the correct protein, there
         | will be enough to have the desired effects. It's really
         | unbelievably cool. I wish there were more appreciation for how
         | these things work.
        
           | verisimi wrote:
           | Thanks for the explanation. That is amazing. What happens to
           | the dysfunctional copy of the gene, I wonder? And what
           | happens when the cell dies?
        
       | HankB99 wrote:
       | I am listening to a podcast on StarTalk Radio (Neil deGrassse
       | Tyson) on gene editing. "Unlocking Gene Therapy with Gaurav
       | Shah." If the subject interests, it might be worth a listen.
        
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