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Gene therapy allows an 11-year-old boy to hear

twostorytower
121 replies
20h24m

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.

ebiester
68 replies
19h18m

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)

dbcurtis
42 replies
17h31m

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.

dataflow
26 replies
12h39m

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.

resonious
7 replies
10h29m

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.

otikik
2 replies
6h11m

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
1 replies
4h35m

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/10.1177/030573561246394...

tough
0 replies
1h2m

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
1 replies
5h44m

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
0 replies
2h21m

Russian doesn't have the guttural 'r' of French.

megablast
0 replies
30m

It’s not accent free, you learn the accent when you learn the language.

mariuolo
0 replies
9h11m

Perhaps their native languages were phoneme-rich and could map those to their L2?

Tor3
7 replies
10h52m

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
6 replies
10h30m

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
5 replies
9h59m

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).

eythian
3 replies
5h58m

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.

LastNevadan
1 replies
4h34m

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
0 replies
4h26m

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.

LocalH
0 replies
4h47m

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.

lucioperca
0 replies
9h33m
radicalbyte
2 replies
9h28m

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
0 replies
9h1m

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
0 replies
5h30m

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.

iopq
2 replies
12h4m

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
0 replies
12h2m

There you go!

criddell
0 replies
3h18m

perfect Californian accent

Oh man, I hope they sound like this:

https://www.youtube.com/watch?v=dCer2e0t8r8

bobmaxup
1 replies
10h50m

To be fair, they did qualify the statement with "or so".

dataflow
0 replies
10h48m

This isn't 12 vs. 12.5 I'm disputing, it's like 12 vs. >= 16.

linuxftw
0 replies
6h11m

Indeed. Sounds like another 'replication crisis' paper in action.

darkwater
0 replies
8h2m

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.

omeid2
4 replies
13h36m

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
2 replies
12h38m

Can you name a language pair where that works? I can’t think of one.

iopq
0 replies
12h2m

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
0 replies
11h54m
Tor3
0 replies
10h42m

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.

compsciphd
3 replies
7h10m
_flat20
2 replies
7h3m
compsciphd
1 replies
3h31m

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
0 replies
2h36m

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).

runlaszlorun
1 replies
1h31m

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
0 replies
51m

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.

hiAndrewQuinn
1 replies
11h23m

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
0 replies
7h10m

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.

js2
0 replies
36m

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

Anotheroneagain
0 replies
1h48m

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.

SamBam
17 replies
17h47m

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
11 replies
17h12m

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
8 replies
15h53m

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
7 replies
15h18m

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
6 replies
13h29m

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
5 replies
13h14m

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
4 replies
12h15m

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
3 replies
10h40m

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.

Retric
1 replies
6h14m

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
0 replies
1h59m

I was surprised at the amount of continuing improvement, too.

vladms
0 replies
7h9m

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".

nsxwolf
1 replies
13h27m

Never fully catching up sounds a lot different than "window for learning spoken language is permanently shut". Am I missing something?

mlyle
0 replies
13h18m

"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
4 replies
16h34m

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
3 replies
15h58m

Can you find that study?

graphe
2 replies
8h14m

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
1 replies
3h26m

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
0 replies
47m

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.

foobiekr
3 replies
13h12m

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
2 replies
10h27m

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
0 replies
9h53m

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
0 replies
9h25m

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.

lofaszvanitt
0 replies
7h0m

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.

hoseja
0 replies
10h34m

The ad-hoc language (generically called "kitchensign" apparently?) might be too primitive.

chriskanan
0 replies
6h1m

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.

blitz_skull
8 replies
17h57m

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.

phire
1 replies
15h42m

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
0 replies
13h37m

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.

bradrn
1 replies
17h51m

Helen Keller had already learnt a ‘home sign’ system, which was presumably language-like enough to allow her to learn English later.

avarun
0 replies
17h37m

And this kid knows sign language too.

SnazzyJeff
1 replies
13h39m

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
0 replies
5h19m

Hellen Keller was deaf. How could she _develop_ the ability to listen to a spoke language?

hmcq6
0 replies
17h4m

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/nML2bdK30Z0OS3cHBINnLcXCv6XVI8dWpLvMu8m...)

SnazzyJeff
0 replies
8h56m

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.

ricardobeat
6 replies
20h12m

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?

lucubratory
1 replies
19h35m

For reference, the language you're thinking of is Xhosa

mkl
0 replies
14h12m

They said "languages" for a reason. There are quite a few: https://en.wikipedia.org/wiki/Click_consonant#Languages_with...

dghughes
1 replies
17h20m

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
0 replies
47m

Then again ruining the point of my own comment what about cochlear implants?

teaearlgraycold
0 replies
20h5m

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
0 replies
19h44m

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_typi...

smeej
5 replies
19h45m

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.

bb88
2 replies
19h1m

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
1 replies
18h22m

Was she not profoundly deaf?

bb88
0 replies
17h40m

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.

makeitdouble
1 replies
19h20m

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
0 replies
15h59m

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.

SnazzyJeff
5 replies
13h29m

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
3 replies
13h22m

How is it trivially false? I know nothing about it.

SnazzyJeff
1 replies
8h52m

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
0 replies
7h53m

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.

judge2020
0 replies
13h18m

Maybe the quote is about the critical period hypothesis[0], which is not universally accepted.

0: https://en.wikipedia.org/wiki/Critical_period_hypothesis

Tor3
0 replies
10h19m

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.

spywaregorilla
4 replies
20h0m

How are born deaf people able to learn to speak if this is the case?

stank345
2 replies
19h51m

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
1 replies
19h34m

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
0 replies
18h48m

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
0 replies
19h37m

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).

jv22222
4 replies
18h53m

You probably know about all about meniere's. If not, have you tried going off salt?

Etheryte
3 replies
18h4m

Have you tried going off pseudoscience?

holdsleeper
2 replies
17h25m

What part of their comment was "pseudoscience"?

JumpCrisscross
1 replies
14h11m

What part of their comment was "pseudoscience"?

Is hypernatremia a cause of Meniere’s?

MathMonkeyMan
0 replies
13h20m

Reducing salt might help with symptoms[1].

[1]: https://www.mountsinai.org/health-library/special-topic/m-ni...

doublerabbit
3 replies
20h12m

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
1 replies
19h47m

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
0 replies
19h41m

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
0 replies
13h30m

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.

tedd4u
2 replies
19h20m

Came here to say I hope this can someday lead to a tinnitus cure :'|

iopq
1 replies
11h54m

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
0 replies
9h46m

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.

mannyv
0 replies
4h32m

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.

lawlessone
0 replies
20h11m

Even still there's plenty of situations where this could save his life.

heyoni
0 replies
17h21m

Is this one in deaf children or others with receptive language but no ability to speak?

fouc
0 replies
18h1m

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"

anonymousnotme
0 replies
2h23m

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?)

TomK32
0 replies
10h53m

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.

SnazzyJeff
0 replies
13h40m

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.

karaterobot
37 replies
19h49m

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?

Loughla
15 replies
19h32m

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.

themaninthedark
5 replies
19h17m

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
2 replies
14h38m

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
1 replies
10h33m

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
0 replies
8h37m

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.

rocqua
0 replies
8h39m

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.

IAmNotACellist
0 replies
14h30m

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.

oefnak
2 replies
19h24m

You don't need to be deaf to communicate with deaf people, right? You could learn sign language either way.

actionfromafar
1 replies
19h13m

What does it mean to be a bat? (Not just be able to talk to one.)

throwuxiytayq
0 replies
18h45m

Are deaf people a different species now?

at_a_remove
1 replies
16h56m

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
0 replies
16h19m

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.

mbil
0 replies
17h46m

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.

kelnos
0 replies
11h46m

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?

coffeemug
0 replies
16h14m

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."

RoyalHenOil
0 replies
10h41m

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.

Modified3019
10 replies
19h14m

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.

IAmNotACellist
6 replies
14h25m

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.

Tor3
3 replies
10h14m

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
1 replies
9h26m

Yep. If the "community" is excluding them for being able to hear, that sounds like their problem

IAmNotACellist
0 replies
1h8m

The hearing community excluding deaf people is about a million times more common

IAmNotACellist
0 replies
1h9m

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

kelnos
0 replies
11h54m

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.

janeerie
0 replies
1h6m

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.

richbell
2 replies
14h27m

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
1 replies
11h58m

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
0 replies
11h51m

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.

kelnos
2 replies
11h58m

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
1 replies
4h4m

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
0 replies
2h6m

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.

PlunderBunny
2 replies
19h24m

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
1 replies
17h35m

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
0 replies
16h10m

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.

throwuxiytayq
1 replies
19h39m

Moronic tribalism at its worst. This is why we can't have nice things.

BurningFrog
0 replies
14h37m

We have nice things!

collegeburner
0 replies
17h43m

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

avnigo
0 replies
6h36m

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
20 replies
17h57m

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
11 replies
17h15m

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
5 replies
17h11m

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?

new299
2 replies
16h39m

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
1 replies
8h54m

What makes nanopore screening quality worse? Aren't these long read sequencers that are supposed to read more of the DNA strand?

jhbadger
0 replies
5h53m

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.

femto
0 replies
17h1m
cjbgkagh
0 replies
16h59m

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.

tjpnz
3 replies
16h0m

Will Nebula Genomics share my genetic information with othrr corporations or law enforcement? In what country is the sequencing done?

4gotunameagain
1 replies
5h22m

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
0 replies
3h35m

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
0 replies
1h17m

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
0 replies
2h5m

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?

iamthejuan
3 replies
16h34m

I used Nebula Genomics with lifetime membership to see any new medical research that affects my genes.

mfld
0 replies
11h41m

Yes, but the type of GWAS-based reports they offer not very well suited to uncover medical conditions like this.

brcmthrowaway
0 replies
13h5m

Referral link?

331c8c71
0 replies
10h41m

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.

graphe
2 replies
16h41m

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
1 replies
11h39m

Thanks for the update, didn't know they were acquired by MyHeritage in 2019.

graphe
0 replies
1h19m
enjaydee
0 replies
13h30m

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/

CommanderData
8 replies
22h39m

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.

starttoaster
4 replies
18h58m

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
1 replies
16h11m

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
0 replies
52m

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
0 replies
13h50m

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
0 replies
6h22m

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.

ijhuygft776
2 replies
20h19m

while this is great, couldn't something like Neuralink help too?

ceejayoz
0 replies
20h16m

Neuralink has a long way to go to demonstrate that capability.

GauntletWizard
0 replies
19h38m

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.

DoingIsLearning
4 replies
10h28m

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?

salubrioustoxin
1 replies
6h10m

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
0 replies
6h1m

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?

kozinc
0 replies
9h39m

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.

huytersd
0 replies
1h55m

EBT-101 is an experimental procedure where they try to use viruses to excise the HIV retrovirus DNA from every cell in your body.

aquafox
3 replies
11h53m

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
1 replies
11h13m

No. OTOF is the gene symbol. Referring to the gene as otoferlin is perfectly legitimate

JR1427
0 replies
1h54m

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
0 replies
6h26m

Did you mean "literate"?

verisimi
1 replies
3h49m

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
0 replies
1h53m

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...)

ikesau
1 replies
16h4m

Does this go both ways? can we use gene therapy to make 11-year old boys deaf?

copperx
0 replies
14h34m

That's the dream of many deaf parents.

coderintherye
1 replies
20h17m

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
0 replies
19h56m

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...

bratwurst3000
1 replies
17h28m

Is this relevant to tinnitus? Sounds like it could help but I am no expert

CommanderData
0 replies
9h22m

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.

smallhands
0 replies
10h0m

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 !

neonate
0 replies
20h45m
formvoltron
0 replies
7h55m

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)?

chewmieser
0 replies
19h50m