Gene therapy allows an 11-year-old boy to hear
nytimes.com
nytimes.com
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.
It's fascinating how our brains are wired in such a way to enable read-only mode at an certain age in development.
That is to say, it is as much of a hardware issue as a software issue.
You're responding to a quote that is trivially false with a quick google. Ok.
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?
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...
However, with early implantation language acquisition is relatively easy (thought it varies per child).
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.
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.
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.
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.
Tongue movements would have been harder to learn which explains why her vocalizations are hard to understand.
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
Fortunately mine is just at a mild annoyance level so far, but will try your trick.
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)
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.
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.
> 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.
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.
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.
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.
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".
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.
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."
https://www.discovermagazine.com/the-sciences/fruit-fly-brai...
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.
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.
This is only true if the second language has sounds that you don't have in your first language.
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.
Oh man, I hope they sound like this:
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.
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.)
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).
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.
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.
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.
Perhaps it's just a capacity that some people have, similar to perfect pitch hearing. Possible, but rare.
https://journals.sagepub.com/doi/abs/10.1177/030573561246394...
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
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.
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.
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 :)
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)
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.
I know these languages are all very similar, so that helped a lot for sure, but the 12 years rule is definitely not absolute.
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.
"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."
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).
Chomsky explains it himself: https://www.youtube.com/watch?v=u6Lk79bnUbM&t=1386s or here https://youtu.be/c6MU5zQwtT4?si=A9t8d0oXV4dOLZTe&t=3008
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…
Start at 12:14 for the relevant topic, but the entire lecture is a good watch.
> 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)
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.
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.
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.
It is if the basics of language and fine motor control required of the vocal cords/tongue/mouth in her brain was not primed and that ability was forever gone.
Is hypernatremia a cause of Meniere’s?
[1]: https://www.mountsinai.org/health-library/special-topic/m-ni...
It's funny that someone would call pseudoscience without doing a lick of research, which is... well, not very scientific ;)
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...)
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.
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.
I agree with you fwiw, but your argument needs to acknowledge the above statement.
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.
We are all chained to reality. We must all accept reality or kill ourselves trying to.
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.
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.
But those kids were different.
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?
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.
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?
Many have. There is a major movement in the community to treat neurodivergence as something other than a disability.
It is no coincidence that people with ADHD are drawn to certain fields, for example.
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...
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)...
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?
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.
> The definition of disability is impairing one or more major life function.
A supplemental framing I've heard is that most of the obstacles that disabled people have to work around are obstacles that society can remove. If all of those obstacles were removed, then the disabled person would be enabled, because that person would be able to live, shop, work, and travel just as other "abled" people can. For example, in the case of people who need wheelchairs, removing the physical obstacles would include designing sidewalks with ramps, buildings with elevators, public buses with wheelchair lifts, and home staircases which can support wheelchair lifts. There are also social obstacles, such as social and employment stigma against people with wheelchairs. Some possible interventions might not be socially or economically realistic everywhere, but perfect doesn't have to be the enemy of better.
For deaf people, restoring hearing using gene therapy removes one obstacle. Restoring hearing with digital devices (that the user can find support for if the manufacturer goes out of business) removes an obstacle. Another (partially collective) intervention would be adding closed captions (and possibly sign language interpreting) to as many videos as possible.
> So. If they have that culture, is it bad for them to celebrate that they can share in it with their children?
Perhaps "celebrate" is more like "be relieved" that the children will temporarily lack a distraction - spoken language from neighbors, should hearing restoration methods become widespread - from learning to communicate with the deaf parents. Well, that's too strong of an assumption for me to make: a better assumption would be that the deaf parents are relieved that their born-deaf children will be more likely to understand their parents' experiences. Consider immigrants whose biological children don't become fluent in their respective parents' first language. It's not as if immigrants would prevent their children from learning the predominant language of the city they settled down in. Likewise, I find it unlikely that a deaf parent would actively impede a non-deaf child from learning spoken language.
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.
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.
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.
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.
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
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.
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?
Do you have something resembling a point?
You can live without a sense of smell too. But I for one find it extremely useful when a quick sniff tells me some food stuff which otherwise looks fine has actually gone off.
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.
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.
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.
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.)
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
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.
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?
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?
Principally create new flowcells coated with an oligo lawn would be difficult. Not impossible… but a non-trivial project…
yes, as it is stated in their website they have to comply with U.S. laws.
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?
Hacked too https://www.theverge.com/2023/10/7/23907330/23andme-leak-hac...
There is zero treatment besides hearing aids / cochlear implants for sensory hearing loss in Human history until now.
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.
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.
back to normal slight tinnitus once removed. very easy process.
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.
https://akouos.com/wp-content/uploads/2021/05/2021_0503_ASGC...
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?
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.
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?
> 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'.
"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...)
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)?
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.
No. Otoferlin is the protein encoded by the OTOF gene. I wish science journalists would be more science literal.
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 !