[HN Gopher] Deaf girl is cured in world first gene therapy trial
___________________________________________________________________
Deaf girl is cured in world first gene therapy trial
Author : belter
Score : 405 points
Date : 2024-05-09 11:38 UTC (11 hours ago)
(HTM) web link (www.independent.co.uk)
(TXT) w3m dump (www.independent.co.uk)
| sneilan1 wrote:
| Is this an application of CRISPR?
| bglazer wrote:
| No, this is an adeno-associated virus (AAV) gene insertion. An
| engineered version of a naturally occurring virus inserts a
| working copy of the OTOH gene into the genome of cells in the
| inner ear.
|
| EDIT: I was incorrect. It seems that the virus doesn't actually
| does not insert itself into the genome. Instead it forms a
| circular DNA loop (episome) in the cell that is like an extra
| chromosome. The normal DNA reading machinery can make RNA from
| the circular DNA loop just like it can from a normal
| chromosome, so you get working proteins. The benefit is that
| you don't risk inserting the viral DNA into a normal chromosome
| at a spot in the DNA sequence that would break some other
| protein. This is the main difference from CRISPR. CRISPR is
| designed to directly alter genomic DNA.
| m1n1 wrote:
| And regular cell-division will include this episome the way
| it does the regular chromosomes?
| tyingq wrote:
| Is "auditory neuropathy" something where there isn't any other
| existing treatment that directly addresses the issue versus
| compensating for it (like cochlear implants)?
| dotnet00 wrote:
| The 'neuropathy' part is meant to imply that the issue isn't
| with the hearing mechanism itself, but rather with the part
| that allows the mechanism to communicate with the brain. In
| this case, the expression of a specific gene causes the
| creation of a specific protein which plays a role in the
| transmission of audio to the brain. This gene was either not
| present or malfunctioning, so they added the proper gene
| manually.
| foobarian wrote:
| This is a pretty insensitive title considering that the deaf
| community does not consider the lack of hearing a disease. "Deaf
| girl's hearing restored..." perhaps better.
| knicholes wrote:
| The deaf community considers the lack of hearing a disability
| when it means they get federal financial assistance, though,
| don't they? It can't go both ways.
| soperj wrote:
| a disability isn't a disease.
| s_dev wrote:
| If a disability means anything it means acknowledging you
| need 'help' in some form.
| eyelidlessness wrote:
| If a condition can be applied to the human experience
| writ large--needing help in some form--you might consider
| that "disease", but you'd be _deeply_ into the territory
| of existential philosophy and /or hyperbole.
| screye wrote:
| Science doesn't (and shouldn't) care for how people socialize
| around a disability.
|
| I recognize the power and a reclaimed self worth that comes
| with reframing narratives around deafness.
|
| The lack of hearing is a disease. Because diseases are
| nominatively about being at dis-ease. As long as it's difficult
| for deaf people to socialize with those who outside the
| community, it dis-eases them.
| anthony__j wrote:
| like someone mentioned in a separate comment, you are
| conflating disease with disability here. when people become
| too old to walk without assistance, you wouldn't say that
| they have a walking disease.
| Aurornis wrote:
| > like someone mentioned in a separate comment, you are
| conflating disease with disability here. when people become
| too old to walk without assistance, you wouldn't say that
| they have a walking disease.
|
| This girl's disease was a genetic auditory neuropathy.
|
| They cured her genetic auditory neuropathy.
|
| Pedantic arguments about what it's called are missing the
| point. The person had a specific disease. It was cured.
| anthony__j wrote:
| to you, this is a pedantic argument. but to millions of
| Deaf people in the US alone, this is a very important
| political point. for example, lots of Deaf people who
| prefer to live without cochlear implants face lots of
| pressure from people who consider deafness to be a
| "disease" to be "cured", when in fact, they feel their
| most authentic way of living to be something different.
| in this way, language is significant
| macksd wrote:
| And people who do prefer to live with cochlear implants
| face pressure from the deaf community itself. You can't
| win. This was an achievement. A girl who probably saw
| this as a cure, saw success. Why can't we just be happy
| for her instead of detracting because others wouldn't
| make the same choice?
| wizzwizz4 wrote:
| 18-month-olds don't usually have opinions on what does or
| doesn't count as a 'cure': that's a bit too abstract for
| most of them. Their parents can.
| TeMPOraL wrote:
| > _when people become too old to walk without assistance,
| you wouldn 't say that they have a walking disease._
|
| Why not? We have some peculiar cultural memes related to
| accepting the inevitable end of life, which we perhaps
| should revisit. I see no reason to not consider _aging
| itself_ as a slow-burn disease, one we 'll hopefully cure
| at some point too.
| xhevahir wrote:
| "Peculiar cultural memes" is an odd way of describing a
| piece of advice that one encounters so frequently in
| cultures the world over.
| TeMPOraL wrote:
| Well, peculiar _now_ , given the understanding of biology
| we gained over the last 70-ish years. Individually, it
| still makes sense, but at social level, it stops us from
| working on fixing the problem.
| dotnet00 wrote:
| Her condition is a genetic disorder, which is a kind of
| disease. The deaf 'community' consists of many kinds of
| deafness, some are not diseases, others are. Some of those
| diseases cannot be cured, others are trivial to cure.
|
| In the same way there are many different kinds of cough, some
| due to diseases, others not, some curable, others not, yet no
| one pretends it's offensive to talk about curing a cough. This
| weird excessive sensitivity to language accomplishes nothing.
| anthony__j wrote:
| im being a little extra in replying here, but only because i
| used to think like many people in this thread until i met
| more people living with deaf and blindness, and i realized
| that i had a big (pun unintended) blind spot in my cultural
| understanding about disability.
|
| being deaf means that you live in a wholly separate world
| compared to a hearing person, and it changes the way you
| understand things- its a whole separate culture, as rich and
| complicated as any other. it does not compare to a cough, and
| many would find such a comparison very insensitive. for an
| example, i would check out the movie "The Sound of Metal"
| dotnet00 wrote:
| I was expecting this sort of comment, but everyone lives in
| their own world with their own culture and perspective,
| especially given the large immigrant populations in the
| West. Yet, the vast majority of people get by not being
| offended over phrasings that they could take as offensive
| to their cultural sensibilities if they really wanted to.
|
| I remember being taught a similar thing as a child, about
| referring to people with disabilities as 'differently
| abled' instead of 'disabled', and similarly in my home
| country the government has made an effort to change the
| word for disability from one which means "improperly able"
| to "blessed" (poorly translating). But the former has not
| stuck, and the latter has not changed how poorly disabled
| people are treated there. Ultimately the changes turned out
| to be little more than feel-good virtue signaling.
|
| In the same way, what does not using the word 'cure'
| accomplish in practice? Some word needs to be used in its
| place, which will take on the same meaning and in a few
| years people will be getting offended over that too (as any
| way of putting it will convey the reality that deafness is
| considered abnormal to the typical human experience). See
| the progression of terms that are seen as insults to one's
| mental faculties as a prominent example, even just within
| the last 20 years of online discourse that I've been around
| for, we've cycled through variations of retard (tard, reet
| etc) and are now in the process of doing the same thing
| with autistic (with the emergence of euphemisms like
| 'artistic') since the former is now deemed a slur.
|
| Or, using a less provocative example, we don't change our
| language to be accommodating of religious communities who
| consider certain things to be insulting to their strongly
| held values or beliefs. We rightly point out that facts are
| more important than their feelings, regardless of how many
| hundreds or thousands of years old their culture and
| beliefs are.
|
| Edit: If coughs are insensitive, we can instead look at
| tumors. There are many types in all parts of the body, some
| are so benign that they can be ignored, others are curable,
| others are cancerous and still curable, and yet others are
| so cancerous they are quickly terminal. Additionally,
| people afflicted with them tend to form a community due to
| shared experience. But would we stop talking about tumors
| colloquially as something which needs to be 'cured' because
| a portion of those in the community don't want to (or
| can't) get theirs cured?
| porterbeats wrote:
| I'm deaf in one ear and 70db loss in the other, just wanted to
| say nobody cares what you call it as long as you aren't an
| asshole about it. Being pediatric helps nobody
| SliceOfWaifu wrote:
| You mean pedantic.
| pugworthy wrote:
| Did you mean pedantic (annoyingly corrective) or pediatric
| (child(ish))?
| jtbayly wrote:
| I laughed reading that as it worked so well as a typo.
| projektfu wrote:
| pedantically, pediatric means child (paithi) doctor
| (iatros) -ish... Apologies for the transliteration into
| latin letters.
| 7thpower wrote:
| What if ones being deaf is a symptom of a disease?
| anthony__j wrote:
| i thought this as well! you wouldn't say "autism cured". to
| many this must seem like a semantic argument, but Deafness is
| an entire culture and identity with hundreds of years of
| history
| vsuperpower2020 wrote:
| They can call it anything they want, but the moment they
| leave their "culture" and try to police our language they
| have to justify it on facts and not just assert that they
| feel a certain way. It's completely irrelevant to medicine if
| they have a culture or identity based around their
| disability.
| Aurornis wrote:
| > the deaf community does not consider the lack of hearing a
| disease
|
| The treatment addressed a specific disease: A genetic auditory
| neuropathy.
|
| It's in the subheading which is the second line when you click
| the link.
|
| You're really stretching to suggest that they are trying to
| imply that all "lack of hearing" is a disease when even the
| headline talks about gene therapy and the sub heading makes it
| clear that it was a specific genetic disease.
|
| This is a case of unnecessarily bringing drama to a situation
| that doesn't even represent that drama.
| lioeters wrote:
| I used to live in Texas near the biggest deaf school in the
| U.S. From my understanding, some people in the deaf community
| do consider the word "cured" to be offensive because they don't
| consider their condition to be a disease.
|
| I don't know if that's the dominant view and preference, but
| _if_ that 's the case, perhaps we should all learn to respect
| their culture, as much as we're all learning to respect (up to
| some point) people's self-identified identities, preferred
| pronouns, etc. It's a matter of education and cultural change
| so that more people are aware and respectful.
|
| For those saying that science should not consider people's
| preferences, that's true but _communicating_ about science
| definitely should. At least up to some point where they 're not
| offending a large number of people.
|
| (..Hmm, but should they really? What about religious people who
| are offended by the idea of evolution..)
| anthony__j wrote:
| this is great thinking. to me, the line to be drawn has a lot
| to do with lived experience. talking about deafness involved
| lots of people who live their entire lives affected by
| deafness, while discussing evolution affects peoples
| spiritual beliefs, which i see as largely a personal (if
| cultural) choice.
| lioeters wrote:
| I guess it's a touchy topic these days. Some believe we
| shouldn't cater to people's beliefs and choices (is
| identity a choice? up to a point..); and especially not
| cater to what people might find offensive. I understand
| their point, because there are people who are overly
| sensitive and are offended by many normal things.
|
| The use of the word "cure" in this context is a perfectly
| logical choice of wording. Should we even consider whether
| some deaf people are offended by this word? It seems like
| the polite thing to do, but maybe it's a slippery slope
| that compromises the objectivity of science and clear
| communication of scientific findings.
| southernplaces7 wrote:
| >I used to live in Texas near the biggest deaf school in the
| U.S. From my understanding, some people in the deaf community
| do consider the word "cured" to be offensive because they
| don't consider their condition to be a disease.
|
| And if these some people want to view it that way to help
| themselves feel better or for whatever personal motives,
| that's their right. However, nobody else should be obligated
| to suspend a rational assessment of reality because of how it
| might offend anyone's emotional and irrational notion.
|
| Whether it comes from a disease, and accident or something
| congenital, deafness is certainly at least a defect in normal
| human function and needs to be recognized as such by those
| who could strive to eliminate it as a problem.
| TeMPOraL wrote:
| Respect has degrees too. The issue gets thorny when, every
| now and then, a story pops up about some members of that
| community who want to deny their children interventions that
| would allow them to hear, or worse, want to intervene to take
| away their hearing, so they can fit in the same community as
| parents.
| boxed wrote:
| The same people who say we should respect deaf culture or
| trans rights are the same people who got super offended at
| transracial people
| (https://en.wikipedia.org/wiki/Rachel_Dolezal).
|
| I can't take this too seriously. Either you accept
| transracial, transsexual, and amputee wannabees, or you
| don't. I do. Activists generally it seems don't, or at least
| the ones screaming the loudest.
|
| We can also all admit that something is a disorder and still
| accept those people for who they are. You don't have to go
| all crazy and try to ban homosexuality. And you don't have to
| go crazy and try to destroy Rachel Dolezal. We can be
| respectful.
| Chris2048 wrote:
| Did the title change, because can't disabilities also be
| "cured"?
| kwhitefoot wrote:
| The girl in question was not part of 'the deaf community',
| She's less than two years old, her community is her family.
| xhevahir wrote:
| I don't agree with this point of view, but people with hearing
| shouldn't be so quick to dismiss it. Deaf people raise it every
| time medicine makes an advance in restoring hearing.
|
| Oliver Sacks has written interesting things on this subject
| btw.
| thehappypm wrote:
| I'm optimistic that at some point, I'll be able to get a
| treatment to take care of my red green color blindness.
|
| I'm well aware that it's very much a first world problem, and
| rightfully should be very low on the totem pole of medical issues
| to cure.
|
| But goddamnit, I want to see red.
| moduspol wrote:
| If it makes you feel better, red is overrated.
| noman-land wrote:
| I think it's rated pretty appropriately.
| santoshalper wrote:
| I think whatever it is rated, by definition, is the
| appropriate rating.
| AuryGlenz wrote:
| Sure. Green though? It's the best.
|
| You know, I've never thought of this: does anyone with a type
| of color blindness consider their "favorite color" to be the
| ones they can't distinguish?
| silverquiet wrote:
| I don't really know enough of the medical details - I thought
| people with color blindness lacked the proper receptors in
| their eyes, so it's not like in the article where a connection
| is restored; you'd have to grow new infrastructure in the eye
| which seems a bit more complicated. Nevertheless, would be very
| cool if possible - I know lots of men with color blindness.
| coolspot wrote:
| Instead of modifying existing eyes, they should grow
| additional one/two.
| thehappypm wrote:
| It's the cones in the eye -- they have a defect and make them
| less receptive to red wavelengths. If you gene-edited them,
| you could have new cells without that defect.
| ggreer wrote:
| In color blindness, the cone cells produce an incorrect opsin
| protein that isn't sensitive to red (or is sensitive to a
| frequency close to green). Gene therapy would fix that,
| though it'd probably take a while for the brain to understand
| the new information.
|
| The main reason this therapy isn't available is because the
| FDA has decided that the risks of gene therapy aren't worth
| the benefit of curing color blindness. I agree with that
| evaluation, but I also think mavericks should be allowed to
| try curing their own colorblindness (assuming they had
| informed consent and paid for the therapy themselves).
| trebligdivad wrote:
| The 'though it'd probably take a while for the brain to
| understand the new information' is an interesting question;
| on one hand people say you need to fix stuff early in
| development while the brain is still very plastic (so great
| for this kid); but then again there is that demo of people
| getting used to vertically flipped vision with weird
| glasses; so perhaps something is flexible?
| adgjlsfhk1 wrote:
| yeah I'd be pretty surprised if your brain didn't figure
| it out in a week.
| wizzwizz4 wrote:
| The brain is good at re-mapping things where it can make
| a distinction, but it seems to only learn distinctions in
| so-called "critical periods". See doi:10.1038/228477a0
| for a famous 1970s experiment on the subject.
| lupire wrote:
| There are lots of examples. Phonemes for language and are
| a very common example of things that can't be learned
| easily or at all later in life.
|
| But huge changes like a major color might overcome that.
| Humans learn to recognize new major objects they've never
| seen before.
| derefr wrote:
| > I agree with that evaluation, but I also think mavericks
| should be allowed to try curing their own colorblindness
| (assuming they had informed consent and paid for the
| therapy themselves).
|
| I mean, what's stopping you? This guy cured his own lactose
| intolerance: https://www.youtube.com/watch?v=J3FcbFqSoQY
|
| But I'm guessing -- in part because you say "paid for the
| therapy" -- that you don't really mean "should be allowed
| to cure their own colorblindness"; but rather "should be
| allowed to buy a colorblindness treatment from a vendor of
| such" or maybe "should be allowed to request a prescription
| of a colorblindness treatment from a doctor who acquires it
| from a vendor of such."
|
| And you're already also allowed to do _that_ -- in theory.
| The FDA doesn 't care about people _buying_ medical
| treatments. It cares about companies _selling_ them.
| Because companies are profit-focused, and the quickest way
| to money in medicine is to lie.
|
| For you to be able to get what you want, there'd have to be
| an intermediate category that stops just shy of the current
| "FDA-approved medical therapy" category. For a treatment to
| qualify for this category, it would still have to pass both
| safety and efficacy studies. The only thing that would be
| different, is that the FDA wouldn't _weigh_ the safety vs.
| the efficacy of the treatment at the end; but instead just
| put an absolute minimum threshold on both safety and
| efficacy, and leave the prescriber to determine whether the
| safety risk outweighs the efficacy.
|
| But think about that word "prescriber." This would
| certainly allow people motivated to do this to go to their
| doctors and ask for such treatments specifically. But it
| would also enable _doctors_ to _choose_ such therapies for
| their patients, without the patient being previously aware
| of the treatment option.
|
| And doctors can be bought. (See: doctors prescribing on-
| patent drugs when equally-effective generics are available;
| doctors adding on unnecessary adjunct therapies because a
| sales rep convinced them they should "give it a try"; etc.)
|
| _Do_ you want to live in a world where there 's no ability
| for regulatory bodies to set a safety:efficacy-ratio
| threshold on a doctor's ability to prescribe drugs to
| patients? A world where a (bad) doctor might prescribe a
| drug that has a huge risk for very little chance of
| success, and all they have to do is put a consent form in
| front of the patient for the huge risk -- without even
| having to explain the low-efficacy part?
|
| (Honest question. Some people might very well prefer such a
| world.)
| devilbunny wrote:
| FWIW, doctors usually specify brands over generics when
| it actually matters if you have the same supplier every
| time. Bioavailability of generics is +/- 20% compared to
| the original branded drug by law in the US. So if you
| have a legal, generic drug here, it might be a 120% one,
| and your next refill might be an 80% one - you just got a
| 1/3 reduction in dose without warning. And if you have
| seizures? That's a bad thing.
|
| My wife is a neurologist. She deals with this. I'm an
| anesthesiologist; I just give more as needed because my
| patients don't take their own drugs. Almost everything I
| give is generic, and the exceptions are when those fail.
|
| You can make a very good living as a physician in the US
| without being a whore. Not worth my moral sense to make a
| few more dollars that won't go to me directly anyway.
| Sure as hell not worth it to her; she's a hospital
| employee.
| lupire wrote:
| True but it's not +-20%, it's "90% confidence interval of
| the mean is within +25%/-40%" which puts the dose much
| closer to 100% in practice.
|
| https://www.pharmacytimes.com/view/debunking-a-common-
| pharma...
|
| Still, these measured %ages should be much more explicit
| in the actual delivered drugs and in the range of values
| that are determined safe. There are plenty og drugs where
| double dose is fine and the therapeutic dose is "let's
| experiment on every patient evey day to see what works".
| devilbunny wrote:
| Thanks, that's good to know.
|
| Antiepileptics are a very special category of drugs in
| that respect - they really do need to be right on target
| every time. I know a neurologist with epilepsy - not my
| wife - and he takes branded Zonegran. Thyroid hormone
| supplements are similar although the consequences are
| much lower (you're not going to accidentally kill anyone
| in a car wreck if your thyroid hormone is low).
| kelnos wrote:
| That's a really tough one. I just watched the lactose
| intolerance fix video you linked. Certainly that
| fabrication process is beyond my ability. But, after more
| of my own research, maybe I'd decide I want to pay
| someone else to produce the therapy for me. (I'm not
| anywhere near as lactose intolerant as the guy in the
| video, but it's bad enough that I'd be happy to rid
| myself if this problem.)
|
| But should I be able to do that? Am I capable of
| evaluating the risks? Am I capable of even enumerating
| the various risk factors? This is not my field at all.
| Maybe the person making this for me is doing it in an
| unsafe manner, in a way that could result in dangerous
| contamination. How would I know?
| scottlamb wrote:
| > The main reason this therapy isn't available is because
| the FDA has decided that the risks of gene therapy aren't
| worth the benefit of curing color blindness. I agree with
| that evaluation, but I also think mavericks should be
| allowed to try curing their own colorblindness (assuming
| they had informed consent and paid for the therapy
| themselves).
|
| In what way do you agree with that evaluation then? The FDA
| certainly doesn't force anyone to undergo a treatment. And
| my understanding was the FDA doesn't decide who pays for a
| given treatment. In particular I don't think they define
| what medical insurance companies (or Medicare/Medicaid)
| have to pay for, do they? I think they just say whether the
| treatment is ethical to be performed at all. So when you
| say that mavericks should be allowed to try it, I think
| you're simply disagreeing with them?
| Ballu wrote:
| Could you provide the ref/details of this particular gene
| therapy and FDA views? I can understand why the FDA wants
| to move ahead slowly unless the condition is life-
| threatening or the impact is life-changing.
| delinom wrote:
| Have you tried color blindness glasses (e.g. EnChroma)? I am
| not familiar with them but some reaction videos were pretty
| heartwarming.
| tantalor wrote:
| Those videos are fake the glasses don't do very much.
|
| https://www.youtube.com/watch?v=RY-NF_7R-pk&t=559
| swozey wrote:
| Well that was eye opening
| yakovsi wrote:
| Colorblind person here. This debunking video is piling on
| more BS, like oh, colorblind people learned to be amazing
| at detecting slight color changes! No, we are not. We
| learned what names are attached to what color, but we see
| them differently, much poorer (save for blues). Enchroma
| apparently helps with separation, as parent comment
| suggests. That being said, the fake dramatic videos are
| definitely shameful scam, agreed.
| jerf wrote:
| What boggles my mind a bit is that true colorblindness
| glasses don't seem that difficult to me. Standard red-
| blue 3d glasses _almost_ do it, it 's just you need red-
| green differentiating glasses. I don't think this would
| Open the World of Color!, but it would with a bit of
| practice probably allow you to at least perceive a
| difference.
|
| But the glasses need to be visibly-differently (to a non-
| color-blind person) tinted. If they look the same,
| they're not going to work. Just like a "blue-reducing"
| pair of glasses _needs_ to look visibly yellow, or it
| clearly (in all senses of the term) isn 't doing
| anything.
|
| A truly optimal pair would take some sciencing but
| bashing something prototype-quality with something like
| https://www.amazon.com/dp/B0928YT83C would be a matter of
| holding up the cyan-ist of the films up to one eye and
| the magenta-ist of the films to the other, and looking at
| some red and green things, concentrating on which eye the
| object is bright in.
| lupire wrote:
| RB 3GD glasses _remove_ color to create a different
| image. I don 't see how that would generalize to _add_
| color.
| achenatx wrote:
| Im red green colorblind. When wearing my enchroma, some
| things I thought were brown are actually very red.
|
| On the other hand green lights lose their green.
|
| On a day to day basis I can functionally see red and green,
| but sometimes when a red or a green is next to a brown I
| cant distinguish them.
|
| And versions of red that regular people might have a hard
| time distinguishing would be impossible for me to
| distinguish.
| thehappypm wrote:
| I have, yes. I can describe it sort of like this:
|
| Imagine you're watching a black-and-white movie on an old TV,
| and it looks kind of washed out. You fiddle with the
| contrast, and suddenly the movie looks much crisper and with
| better contrast. You're not actually seeing more colors --
| its just grayscale -- but you can optimize it to give you
| more depth of perception.
|
| That's what EnChroma does. It doesn't actually make you see
| red, but it heightens the contrast to make it stand out more.
| delinom wrote:
| That's what I imagined it to be, a slight improvement but
| obviously no miracle.
| itslennysfault wrote:
| So, does it just look like different green? Like still
| green, but you can tell it apart from "true" green? Like
| wearing them could you pass a colorblind test even though
| you still can't see red?
| 93po wrote:
| i can see reds and greens, but very similar shades next
| to each other, i can't tell. i also can't see either
| color very well when it's a really small sample size (for
| example, the green under my power switch on my wireless
| mouse to show that it's on).
|
| the way i think about it is that people who aren't
| colorblind have a maximum green value that is much higher
| than mine. the enchroma glasses, which i've tried,
| effectively make greens more green. i feel like it makes
| things inaccurately colored, but exaggerates colors
| enough to be able to better differentiate. i still can't
| see past my "maximum green" value though, which is why
| those marketing videos of people crying are total
| bullshit. it just looks like a very saturated instagram
| filter. it doesn't make me see colors i haven't seen
| before.
|
| i didn't try a color blindness test with them but i
| should have. the best memory i have of using it is that
| it was fall time and the leaves on a bush in my yard were
| turning red, but i had no idea until i put the glasses
| on, and i could distinctly tell which leaves were turning
| and which weren't.
|
| i liked them and wanted to keep them, but i couldnt
| justify the $220 price or whatever it was, so i returned
| them. i want to get another pair some day
| yieldcrv wrote:
| > but some reaction videos were pretty heartwarming
|
| shameful marketing campaign
| bongodongobob wrote:
| I've tried them, they kind of make reds pop a little more.
|
| But imagine this. You put on a pair of pink tinted glasses to
| fix your vision. Ok great, but everything is tinted now. I
| don't find it pleasing at all. My normal is my normal,
| putting tinted glasses on me doesn't make things look better,
| it looks wrong.
| tejtm wrote:
| And I want to see UV like our proto progenitors, enough of
| these little brown birds we can't tell apart.
| jfengel wrote:
| The problem there isn't your receptors, which are UV
| sensitive. The problem is your lens, which filters it out.
| Remove the lens and you can see UV just fine.
|
| Until you get eyeball cancer, that is. UV is mutagenic.
| That's why you filter it out.
|
| People with cataracts get replacement lenses, and some exist
| that don't filter the UV. I think they're hard to get, what
| with the whole "eyeball cancer" thing. But if I get to my 70s
| and need replacement lenses (I do have a family history), I'm
| going to campaign to see if I can spend a couple of decades
| looking at the pretty birdies.
| foota wrote:
| Are you eyes more sensitive to UV than the rest of your
| body?
|
| I guess melanin absorbs UV in the skin, so this serves a
| similar purpose in the eye?
| Analemma_ wrote:
| I'm not sure about more sensitive, but I know the immune
| system (which cleans up a lot of pre-cancerous cells
| before they become a problem) is much less active in the
| eyeball, so it probably pays to have extra defense
| against cell damage.
| lupire wrote:
| "Sensitivity to light" is the primary function of the
| eye.
| capitainenemo wrote:
| It's not just cancer right? UV light will damage those
| sensitive photoreceptor cells, so you would end up seeing
| less and less of anything over those couple of decades.
| Even non-UV blue light is hard for the eyes to deal with.
| Personally I'd just prefer wearing glasses that shift the
| UV to some other part of the spectrum.
| eternauta3k wrote:
| > Personally I'd just prefer wearing glasses that shift
| the UV to some other part of the spectrum.
|
| Does this exist? I thought those kinds of non-linear
| effects only happen at extremely high fields (e.g. with a
| very fast pulsed laser to concentrate energy in time)
| bongodongobob wrote:
| No, at least not without active electronics.
| capitainenemo wrote:
| Fluorescence?
| dekhn wrote:
| I am really curious what the subjective experience of a color-
| blind person undergoing gene therapy gradually being able to
| perceive the difference between two colors that previously
| appeared the same.
|
| See also
| https://en.wikipedia.org/wiki/What_Is_It_Like_to_Be_a_Bat%3F
| and https://en.wikipedia.org/wiki/Knowledge_argument
| eternauta3k wrote:
| I guess the person would have no associations with the pure
| color red. Non-colorblind people have a life full of memories
| where red is associated with blood, lipstick, flushed cheeks,
| race cars, etc. plus the associated feelings.
|
| I'm guessing they only really get the full effect of the
| therapy after they've lived without colorblindness for a
| while and made those associations.
|
| Do you think there's a fundamental difference between getting
| a new color receptor and training yourself to
| recognize/differentiate more of the colors you already have
| the receptors to distinguish?
| interloxia wrote:
| Red is a great. I hope that it would be like the reaction
| videos of kids having their Cochlear implant turned on for
| the first time.
| dekhn wrote:
| I'm not attempting to speculate, I'm just saying I wonder
| what the subjective experience would be like. I stopped
| trying to think what it would like to be a bat a while ago.
| bongodongobob wrote:
| I think most people misunderstand color blindness in that
| most red-green colorblind can see red, it's just muted. I
| know what red looks like, but it needs to be plain old
| bright red.
| dekhn wrote:
| protanopia: can't see red. protanomly: some red is
| visible.
|
| The guy I worked with who was RG CB couldn't wire up
| stepper motors (typically use 4 wires, red green blue
| black), he couldn't tell the difference and had to use a
| multimeter.
| tombert wrote:
| I hope CRISP and gene therapy are going to be the watershed
| moment in medicine that they appear to be.
|
| I heard a Radiolab about CRISPR like 8 years ago, and I remember
| thinking "if this is even half as cool as it sounds, then this is
| utterly amazing". It feels like a whole slew of disease will just
| stop being problems, and I look forward to the results of it.
|
| Of course, I'm not a biologist, and I don't really understand any
| aspects of this stuff, so I have an extremely lay-person
| understanding of all this, but it seems insanely cool.
| gherkinnn wrote:
| What always interests me with stories of people hearing or seeing
| for the first time in their life, what is it like to gain a new
| sense?
|
| One would think that growing up with a sense is integral to its
| processing (and filtering) and the sudden introduction of a sense
| later in life would come with all sorts of side effects.
| stronglikedan wrote:
| If I could just finally achieve a true kundalini awakening,
| then I could tell you.
| noman-land wrote:
| There is an entire class of YouTube video of the first moments
| that people see color, or hear, and it is absolutely, without
| question, the most joyous and wonderful class of video out
| there. Just so many happy tears.
|
| Little kids hearing their mother's voice for the first time.
| Friends seeing color for the first time after being given
| corrective glasses as a gift.
|
| Highly recommended watching.
| delecti wrote:
| Unfortunately most of those videos about the glasses are
| basically staged. Some of those companies have gotten in
| trouble for making false claims.
| HumblyTossed wrote:
| It truly is sad if that is the case that those videos are
| staged, but, anecdotally, I worked in the eye glass
| business (lab manager) to pay for college back in the day
| and I assure you, I have personally seen babies see their
| parents for the first time clearly and there was plenty of
| tears to go around.
| delecti wrote:
| Yeah, to be clear I was specifically referring to videos
| of people reacting to the glasses that supposedly let
| colorblind people see color. I think EnChroma is the big
| name in that space. I didn't specify "color correcting",
| because that was the only kind of glasses mentioned in
| the GP comment.
|
| Normal glasses that correct refractive vision issues are
| obviously real, and great, I'm certainly a big fan of
| mine. And while I've never seen it in person, videos of
| babies seeing through refractive correction glasses are
| adorable every time.
| jeffwass wrote:
| As the father of a deaf girl who had cochlear implant surgery
| a few years ago, I _despise_ these videos for misleadingly
| representing the reality of the situation for most patients.
|
| Those videos you mention are designed to invoke "happy-
| feelies" to maximise engagement and monetisation, nothing
| more.
|
| The doctors warned us not to expect any reaction in our
| daughter like in those videos.
|
| Even so, I wasn't prepared for just how difficult my
| daughter's post-implantation journey was. It took _many
| months_ before the implants provided even remotely similar
| benefit as the tiny amount of benefit her older hearing aids
| could give.
|
| She had to learn to hear all over again from scratch.
|
| This affected her self-confidence, her friendships, her
| schooling, and was a very difficult time for her.
|
| Those turn-on videos you mention are overly saccharine to
| make you feel good while having nothing to do with the
| reality of the situation for almost all cases.
| toast0 wrote:
| I had a chronic stuffed nose into like the 2nd grade. So when I
| started taking steroids for my nose, I was able to really smell
| for the first time, and started noticing cooking smells.
| Overall, kind of meh, missing out on smell is mostly not a big
| deal. Smell is useful to detect odorants added to dangerous
| gasses and to know when the cooking is done if your smoke
| detector is too far from the kitchen, and it can help detect
| spoiled food (but visual inspection usually works too), but
| like I don't feel like my life was worse before I could smell,
| and there definitely wasn't a big step change improvement.
| 1970-01-01 wrote:
| NYT has an excellent summary on it. Life becomes very hard when
| they try to use their new sense in any meaningful way:
|
| https://www.nytimes.com/2021/06/29/books/review/comnig-to-ou...
| iLoveOncall wrote:
| This is not at all a summary, it's a book review and it is
| based on 4 hand-picked examples.
|
| I wouldn't read anything into it.
| 1970-01-01 wrote:
| https://en.wikipedia.org/wiki/Molyneux%27s_problem#Current_
| r...
| iLoveOncall wrote:
| Not sure what's that supposed to show? n = 5 and the
| results just 5 days after the first survey were extremely
| positive.
| burnished wrote:
| I started smoking as a teenager and almost entirely lost my
| sense of smell. I later spent years working in cafes and bars
| and did a lot of food and beverage tastings where I used my
| limited sense of smell to the best of my ability and got pretty
| good at it _. Eventually I met my favorite person, who didn 't
| smoke, so I quit and over the course of the following weeks it
| felt like I was regaining my sense of smell with owed interest.
| I found out my city smells like shit and piss, flowers can have
| powerful aromas you smell from some distance, and some smells
| had become physically distressing to me. At one point I went to
| my favorite person's house, commented that it smelled like old
| grapes when they opened the door, and found out they had burnt
| a scented candle called champagne dream hours ago. At the
| height of it I thought I would eventually learn to smell the
| future.
|
| I find I filter more now but I still find a lot of stronger
| smells to be deeply unpleasant and I don't recall being
| sensitive like this as a child.
|
| _I learned to identify some smells and relate the experience to
| others but my notes tended to be very basic, especially
| compared to a friend who was working on his level two sommelier
| test (who was ruthlessly empirical in his epicureanism so I
| believe wasn't bullshiting the wine snobbery).
| tomaskafka wrote:
| Wow! There is a great gag in latest Star Trek where Spock
| reveals that Vulcans need to medically suppress their smell
| near humans because we just stink to their sensitive noses.
| TecoAndJix wrote:
| Here is another reference from Enterprise with T'pol:
| https://www.youtube.com/watch?v=tIYsVBaYNSU
| Izkata wrote:
| It's a recurring thing in Enterprise, Archer's pet dog
| Porthos also bothers T'Pol at one point. I'm not sure but
| I think Enterprise was the one that introduced this
| aspect of Vulcans.
| lupire wrote:
| Babylon 5 had that with telepaths who sing songs to block
| out the noise of human thoughts.
| claytonwramsey wrote:
| > At the height of it I thought I would eventually learn to
| smell the future.
|
| Oddly enough, Salman Rushdie's _Midnight's Children_ covers
| this exact feeling almost in the same way as you describe. If
| you haven't read it, I definitely recommend it - it's a long
| read but also very enojoyable.
| world2vec wrote:
| My Mom was born with less than half of her hearing in left ear
| and barely anything at all in right ear. She had surgery as an
| adult and it slightly improved, especially on the right side.
|
| Pretty sure this little girl and my Mom don't share the same
| disability at all but she saw these news today and texted me so
| excited because future kids won't have to endure the same.
|
| Brings tears to my eyes, I'm so grateful for modern medicine and
| its stupendous advances.
| dhosek wrote:
| It might be the condition I have, otosclerosis, where the bones
| of the middle ear fuse. The surgery, a stapedectomy, involves
| removing the bones and replacing them with a metallic
| prosthesis. Unfortunately, in my case, the calcification is
| also happening in my cochlea which means that at some
| indeterminate time in the future, I will end up losing all
| hearing. Not to mention that even with the prosthetic, my
| hearing isn't 100% so I have a difficult time understanding
| speech. There might be some gene therapy that can remedy
| things, but I think what I may be hoping to see is the ability
| to grow a new inner and middle ear from stem cells and
| transplant them into my head, but I suspect that at age 55, I
| won't see this happen in time for me.
| jfengel wrote:
| I had no idea that was possible. If you'd asked me, I would
| have guessed that it wasn't.
|
| Astonishing. Sorry it's not a permanent fix for you, but it's
| impressive as hell that they could do anything.
| throwaway2037 wrote:
| Thank you to share about your personal experience. Will a
| cochlear implant help for your condition?
| dhosek wrote:
| It will, but with the caveat that hearing with a cochlear
| implant is (at least at current technology levels),
| inferior to hearing with an actual cochlea. So there's a
| balancing act where they want to continue having me hear
| with my cochlea as long as possible. The other problem is
| that with a CI, I have no hearing at all without the
| receiver which means that I would be completely deaf while
| swimming, showering, etc. while I have at least some
| hearing without my hearing aids right now (although I had
| an ear infection in December which left me completely deaf
| for a week. It was a bit startling how much people were
| unwilling to engage in the smallest adaptations for me--I
| found how to set up live transcriptions on my phone and I
| remember the cashier at the grocery store being unwilling
| to use that so I could see what she was saying).
| dhosek wrote:
| (With the live transcription feature, I was actually able
| to engage in normal-ish telephone conversations, maybe
| even a little more effective than I can with using the
| audio.)
| shirleyquirk wrote:
| Did your sense of taste change after your surgery? My sister
| is considering a similar procedure and is concerned that
| everything could start tasting like hot garbage.
| Geee wrote:
| Another viable future tech for this might be neural implants
| similar to Neuralink. Not sure how viable it would be.
| izend wrote:
| I was recently diagnosed with otosclerosis, have you found a
| hearing aid that works best for otosclerosis, my Doctor
| mentioned that most hearing aids don't work well for low
| frequency loss.
| sandworm101 wrote:
| >> so excited because future kids won't have to endure the
| same.
|
| When cochlear implants became routine there was a brief protest
| by the deaf and hard-of-hearing community. The line between
| people with a disability and a person who is simply _different_
| is a longstanding debate. How and when medicine should
| intervene is a hot button issue.
|
| I had a relative born with a malformed ear canal. The doctors
| rushed to get her the surgery needed so that she could hear
| equally in both ears, before her developing brain started
| ignoring the "bad" ear. A few years in and her hearing is now
| better than mine.
| maratc wrote:
| Yuval Harari makes an interesting point in one of his books: that
| many kinds of these inventions always start as a way to treat
| people with some kind of a medical condition and bring them into
| the "median" spectrum, but there's no stopping there and the same
| inventions are then used to bring "median" people into the
| "super-human" spectrum.
|
| What happens next is that the "regular" humans have to compete
| with these "super-humans", for example on a job market, or in
| Olympics.
| amelius wrote:
| You can only switch a gene "on" once. So I'd like to see some
| examples.
|
| Or do you mean more people with all their genes switched "on"
| so to speak?
| tonetegeatinst wrote:
| Epigenetics would like a word.
|
| A gene can be expressed but from what I rember from my
| college classes....the epigenetics can determine if the gene
| actually works correctly and how effective it is.
|
| Think of it as the ability to lower the overall expression of
| the gene
| dotnet00 wrote:
| You say that as if this has happened before ("many kinds of
| these inventions always start as..."), but what conditions have
| actually had this happen?
|
| I can't think of anything that started as something to help
| bring people up to a median level, to then end up bringing
| median people into a super-human level. Everything we've done
| so far have all been ultimately limited by the human body, so
| things that bring people up to the median level ultimately have
| diminishing returns such that they don't benefit median people
| so much.
| cush wrote:
| steroids
| dotnet00 wrote:
| Most, even in the presented example of the olympics aren't
| having to compete against those on steroids though?
| johnmaguire wrote:
| It's hard to know how many people are getting away with
| cheating. I'm more familiar with it in the context of
| cycling, where performance-enhancing drugs have long been
| a thorny issue.
|
| > In 2004, 4.6% of the anti-doping samples tested were
| positive, and that is taking into account that there were
| many dopers who never tested positive.
|
| https://lanternerouge.com/2023/03/26/how-clean-is-
| cycling-an...
| maratc wrote:
| Think of e.g. the development of optics that brought us the
| eyeglasses first, and the telescopic sight on a sniper rifle
| second. Now imagine an army of median humans that need to
| fight the army of genetically-modified humans that can see in
| the dark.
| Octokiddie wrote:
| Breast augmentation could be one case.
| dotnet00 wrote:
| Haha I guess that might technically fit.
| PebblesRox wrote:
| You could say the same for plastic surgery in general.
| Techniques developed to restore injured faces (e.g. of
| soldiers) are now used for cosmetic purposes.
| johnmaguire wrote:
| Implants, prosthetics, and exo-skeletons?
| dotnet00 wrote:
| Which implants and prosthetics currently exist that are
| such that a median person would want them and as a result
| would become super-human?
| johnmaguire wrote:
| As was mentioned in another comment, breast augmentation
| and other forms of body modification in the context of
| influencers, broadcasters, actors, models, etc.
|
| Prosthetics may not quite be there yet, but do you
| seriously think they won't get there?
|
| Military is actively investing in exoskeleton R&D.
| Whether it's currently accessible to the median person is
| sort of besides the point.
| dotnet00 wrote:
| Re-read my comment, I haven't said anything about the
| future. My point was just that it seems weird to talk
| about it as if it has already happened.
|
| It might happen in the future, but it's worth considering
| that a powerful prosthetic limb or exoskeleton that is
| superior to the biological version in every way makes
| both the disabled person and the perfectly healthy person
| equally superhuman.
| johnmaguire wrote:
| I re-read your comment, but I still disagree that the
| evidence provided by myself and others in response, as
| well as evident near-term future advancements, are
| irrelevant to the comment you responded to.
|
| > a powerful prosthetic limb or exoskeleton that is
| superior to the biological version in every way makes
| both the disabled person and the perfectly healthy person
| equally superhuman.
|
| I think I'm not following, or else failing to see the
| relevance to this comment. This is essentially what the
| GP was getting at: these advancements can/will lead to
| anatomically "correct" humans failing to compete.
| dotnet00 wrote:
| >I think I'm not following, or else failing to see the
| relevance to this comment. This is essentially what the
| GP was getting at: these advancements can/will lead to
| anatomically "correct" humans failing to compete.
|
| I suppose this is just down to interpretation/point of
| focus.
|
| I was focusing on the 'levels' being referenced. A
| 'perfect' prosthetic allows all people to be able to
| reach the same level, while the GP was talking about
| things that bring below median people to median level
| only, and previously median people to super-human level.
|
| If we interpret this to refer to competition against
| people who aren't using any augmentation, it covers even
| just the act of practicing. Which in my opinion, kind of
| defeats their point by making it excessively broad.
| maratc wrote:
| > it covers even just the act of practicing
|
| Imagine that a gene modification is discovered that
| allows a significant breakthrough in human memory. First,
| people with Alzheimer would undergo that treatment, to
| the cheers and applauds of virtually everyone (including
| me and you). Then the people with _a risk_ of Alzheimer
| would undergo it, then it would be cheap enough that
| _anybody rich enough_ could do it. Then imagine that e.g.
| I undergo that treatment and am now able to memorize all
| of Wikipedia, GitHub, and Stack Overflow. Then imagine
| competing against me for a job opening. You can practice
| all you want but never able to reach that level, because
| you 're limited by genes while I've got rid of that
| limitation.
|
| The Google guys are extremely well-invested in the bio-
| tech startups, and Larry the Oracle Guy puts all his
| money into an "institute for prolonging of human life".
| No bonus points will be awarded for the correct answer to
| the question "whose life exactly that institute is
| working to prolong?"
| jonasdegendt wrote:
| Someone mentioned steroids, but Epogen is another example.
| rowanG077 wrote:
| Isn't that already the case? Genetically the average Olympian
| is definitely super human compared to the population. Unless we
| start adding novel genetic data to humans I wouldn't be too
| worried.
| qp11 wrote:
| The Theory of Bounded Rationality tells us super humans are
| over rated. There will always be problems you throw in the lap
| of a super human, that they wont be able to solve cause of lack
| of time, or cash, or personality or missing info, or
| conflicting needs, or their belief system etc etc.
| TeMPOraL wrote:
| I can't think of a medically relevant example except maybe
| stimulants and painkillers, but outside of medicine, this
| definitely is the case with technology: many inventions have a
| ratchet effect - they start as gimmicks, but when they reach a
| critical mass of users, they confer so much competitive
| benefits that they rapidly spread everywhere, and eventually
| become _required_ to function.
|
| Examples range from agriculture to the Internet; currently,
| smartphones seem to be hitting this threshold, as more private
| and public services become designed primarily with smartphones
| in mind.
|
| I found it enlightening to ponder the history of clocks. There
| was a time nobody needed one; it wasn't actually useful for
| anything[0], because nothing in agricultural societies happened
| fast enough to require hour or minute accuracy. Some people
| eventually found use for more accurate and precise time
| tracking, then more, then those people realized they're able to
| coordinate better when they have synced clocks, which made new
| things possible, and few centuries later, our entire
| civilization runs on clocks, and it's near-impossible to live
| without minding what time is it.
|
| --
|
| [0] - Use in sea navigation notwithstanding.
| maratc wrote:
| > those people realized they're able to coordinate better
| when they have synced clocks, which made new things possible
|
| The development of clocks is related to industrialization and
| opening of plants that need all the workers to be there at
| e.g. 8 am for the shift to start. If you have to be at the
| factory at 8 am you'd better know what time it is. It's not
| that the development of clocks has brought us factories;
| rather, the development of factories has brought us clocks.
| TeMPOraL wrote:
| It's a feedback loop; manufacturing couldn't scale without
| clocks, and neither transportation - think e.g. train time
| tables. Once it became _possible_ to keep people in sync
| down to minutes, it immediately became popular, and those
| who avoided it were increasingly left behind.
|
| FWIW, I'm not saying it's a _good_ development. I 'm torn
| on this. Outside of direct progress, we seem to be running
| in Red Queen's races quite a lot, as improvements turn into
| baseline.
| kiba wrote:
| The relationship is likely bidirectional as opposed to a
| one way street.
| vunderba wrote:
| I mean this isn't really a novel point, this is true of
| everything not just biological enhancements, but technological
| enhancements as well. The privileged will always have first
| dibs.
|
| But historically the wealthy/first adopters help fuel the
| continued development of said inventions, which helps drive
| down the price, eventually allowing the larger public to have
| access to it.
| julianlam wrote:
| I'm excited to see possible parallel applications of this therapy
| for other hearing-loss related gene mutations such as GJB2.
|
| From what I can tell from a press release from Regeneron
| themselves, they're also working on GJB2 and STRC therapies.
| janeerie wrote:
| Can you point me towards more info on GJB2 therapies? This is
| the cause of my son's hearing loss.
| throwaway9911d wrote:
| I'm hopeful we will be able to cure retinitis pigmentosa with
| CRISPR one day.
| unsupp0rted wrote:
| Every time I hear about a new medical discovery or treatment, I
| think "yeah right, maybe in 15 years".
|
| Well, here we finally are.
|
| Our ancestors, and I mean great-grandparents and grandparents,
| would call us gods.
| dotnet00 wrote:
| It is interesting to wonder if they'd call us gods in a good
| way though. Perhaps they might see it as 'playing god' instead.
| HN being a techie crowd tends to skew this a bit, but it's
| worth remembering that genetic engineering is still pretty
| controversial to the average person:
| https://www.pewresearch.org/internet/2022/03/17/americans-ar...
| dekhn wrote:
| When I was 18 (early 90s) and applying for university, the
| admissions office asked me what I wanted to do and I said
| "play god with DNA". Sure it sounds arrogant, but I knew that
| gene therapy would become a thing and if it worked,
| eventually people would apply it recreationally (by which I
| mean, to change your phenotype, or your future children's
| phenotype, for non-disease purposes).
|
| I went into that field and spent a couple decades learning
| how to do it. My only conclusion at the end was that it would
| only be considered societally acceptable for diseases, not
| recreation, for the foreseeable future, and even things that
| seem "easy" (like fixing retinitis pigmentosa) are in fact
| fractally challenging. As much as I would like to have
| chromatophore tattoos, we're just not in a place where we can
| justify this (even self-experimentation) because it's really
| hard to know if your intervention had the effect you desired,
| and no other effects.
| devilbunny wrote:
| I'm about your age, but holy hell, if I had been an
| admissions officer, that would have sold me on you.
|
| I'm an anesthesiologist, though, so "likes to play god"
| sort of goes with the territory. It's not common, but there
| are surgeries where you go on heart-lung bypass, chill the
| patient down to 30 C, and then stop the pumps. No blood
| flow. The surgeon does the critical part, you turn the
| pumps back on and warm them up, and then the body takes
| over again.
|
| It is absolutely magic.
| unsupp0rted wrote:
| Those who suddenly got eyesight or hearing would call us gods
| in a good way.
|
| Everybody has a problem with people "playing god" until they
| get paralyzed or a serious illness. Then "playing god" is all
| they wish for.
| jimnotgym wrote:
| Caveman brains, mediaeval institutions, and godlike technology.
| What could possibly go wrong.
|
| That is a quote I heard somewhere and paraphrased.
| qkeast wrote:
| I have profound hearing loss (sensorineural) in both ears, and
| I've been following gene therapy in all of its fits and starts
| for almost two decades. I was lucky enough to have _not
| horrible_ hearing at my youngest, and then lost it
| progressively up until I rely entirely on lip reading for
| conversation.
|
| I was eligible for cochlear implants probably more than 15
| years ago, but I was getting by, and I heard that getting
| implants would almost certainly preclude any future therapy
| like this. I'm ecstatic to finally hear an actual "it worked,
| in a human" outcome, and can't wait for something that works
| for my hearing to reach maturity.
| alsetmusic wrote:
| Medical science is about the only thing in modern life that
| consistently delivers hope. While all the other terrible things
| are going on, something like this comes along and I'm just
| extremely happy to be alive right now.
| highwayman47 wrote:
| It would be nice if people at these companies were rewarded the
| same way as food delivery app employees.
| weakfish wrote:
| huh?
| lucianbr wrote:
| Maybe they meant "food delivery app developers"?
| Petersipoi wrote:
| You want the people at these companies to get a 3 dollar tip
| each time they restore someone's hearing?
| HaZeust wrote:
| ... Food delivery app employees get shitty rewards in
| proportion to their work as well?
| oxguy3 wrote:
| ???? I would imagine the average surgeon is much happier with
| their compensation than the average DoorDasher. It's a
| reliable fixed-rate salary vs wondering if you'll get enough
| $3 tips to make rent this month.
| lizardking wrote:
| Maybe gp was referring to the coders who work at said
| companies. I don't even think the individual dashers are
| employees.
| zaphod12 wrote:
| I can assure you that regeneron pays very well, including
| significant equity and has absolutely fantastic benefits.
| Software developers probably get more at door dash (it isn't
| bad by any means, but they aren't "the talent" at regeneron
| after all), but folks involved in the science and trials are
| doing very well.
| jajko wrote:
| Astronomy is cool too, nothing anchors you back in reality like
| realizing how absolutely microscopic and insignificant our
| entire mankind's existence was and is.
|
| Solid perspective and understanding of bigger picture is
| important, then nothing can surprise you much.
| harimau777 wrote:
| Personally, I find astronomy quite depressing. Learning that
| humanity is stuck on this rock; at least for my lifetime if
| not forever. As a kid I dreamed of exploring space. As an
| adult I learned that is impossible.
| antegamisou wrote:
| Yet LLM grift research proposals receive 100x the funding for
| therapies similar to this.
| contingencies wrote:
| Serious suggestion: try gardening.
|
| _To plant a garden is to believe in tomorrow._ - Audrey
| Hepburn
| downWidOutaFite wrote:
| Funny because I feel the opposite. Health care is so broken
| with all the politics, insurance, bureaucracy,
| financialization, etc that the vast majority of people are not
| able to reap the rewards of progress. Even the science is
| perverted because of bad incentives and only potentially
| lucrative research is funded.
| ForrestN wrote:
| As a disabled person, I admit to being made slightly
| uncomfortable by the uncritical framing of genetically modified
| people as "therapy" that all people should want. Where is the
| line between "gene therapy" to eliminate differences (such as
| deafness) and eugenics? If we have statistics that taller people
| have better outcomes in life, should we do gene therapy to make
| sure everyone is taller than 6'? How much diversity of human
| experience is too much?
|
| Obviously, there are easy cases: this kind of technique to
| prevent conditions leading to abject suffering, for example. But,
| knowing and admiring deaf people makes me unsure about the idea
| of "curing" deafness, for example, as a goal of medicine.
| virissimo wrote:
| Perhaps we should have different words for voluntary (choosing
| to regain your hearing, etc...) and coercive (forced
| sterilization, etc...) "eugenics", since almost all of the
| negative connotations of the word are (rightly, IMO) attributed
| only to the latter.
| commandlinefan wrote:
| That was my first though, BUT... to play devil's advocate,
| people choose gender reassignment surgery (including young
| children) and that choice continues to be very very
| controversial.
| ImJamal wrote:
| The controversy is due to cutting off perfectly good and
| functioning body parts. Correcting a body part that is not
| working correctly isn't all that controversial.
| ImJamal wrote:
| Parents are going to choose these things for their kids
| though?
| spondylosaurus wrote:
| Also disabled, and this is a topic I've been chewing on a lot
| lately--I started writing up a longer comment but deleted it,
| lol. What I really want to say is that I have a few problems I
| would 100% cure in a heartbeat, and a few that I'm less sure
| about, so I get it.
|
| Some disabilities only have one true cure: fix the part of your
| body that's bad at its job. No amount of accomodation or
| acceptance is going to mitigate the worst parts of, say, liver
| disease. But other disabilities have two paths forward: cure
| the body, or create a world that's more accommodating to people
| with that disability. Deafness seems like it falls in that
| category, which is tricky, because both paths have salient
| points but are also at odds with each other.
| silverquiet wrote:
| I'm actually in this position a bit. I'm still young(ish)
| with a serious hip condition that causes me some disability.
| There are options for replacement that could get me to near
| full function, but there are drawbacks and the shear fear of
| surgery and replacing part of my body with metal and plastic.
| If I was wheelchair-bound, I don't think it would be a hard
| choice, but I am able to essentially do most of the things I
| need to do at least as I am. And so I put it off and put it
| off.
| spondylosaurus wrote:
| Hip problems are brutal, been there before :( Mine (mostly)
| resolved when I addressed some other underlying issues but
| I was also seriously considering joint replacement for a
| bit!
|
| The surgery and downtime are no joke, but everyone I've
| talked to who went through with a replacement was glad they
| did. I even know at least one guy who now works on his feet
| all day. Not saying to just take the plunge now, but if you
| ever do, the outcomes seem pretty damn good.
| jamiek88 wrote:
| Do you have significant pain?
| eklavya wrote:
| Am I reading it wrong or are you admiring deafness which
| shouldn't be cured? Or the deaf people who are admirable?
|
| Why should curing deafness not be a goal of medicine?
| sertgert wrote:
| I'm reading it like the hedonist's treadmill. Why be happy
| with a 6 figure salary when there's people with 7 figure
| salaries? Are you content with your current situation, or are
| you missing a part of what it means to be human by not having
| better eyesight, better teeth, better hearing?
|
| I think what OP was referring to was how rich the lives of
| the deaf can be, and how discouraging it might be to hear
| "y'know, you're not /really/ experiencing life until you can
| hear"
| dandanua wrote:
| In the current state of the world ethics is faked. Survival is
| everything. AI will be used for weapons and for power grab by
| politicians and billionaires (e.g. through mass manipulation).
| Gene "fixing" will be used by those who can afford it, 100%.
| Today everyone wants to be better, stronger and smarter.
| Otherwise you and your offspring (if any) are doomed to stay in
| lower castes of society for ages. Be sure the top castes will
| arrange that.
| legohead wrote:
| Designer babies are fine with me. If I could make a handsome,
| strong as an ape, genius, healthy baby, I'd do it! I'd do the
| same for me.
|
| If there's a moral sticking point, for me it would be about the
| cost and privilege it assumes. We still have a very long ways
| to go before that is figured out...but if we have genius level
| babies, maybe they can do it for us.
| ImJamal wrote:
| I think there is an easy line. We know what should occur with
| certain parts of the body. Ears should be able to hear so when
| they don't we know there is a problem.
|
| There isn't a height in order to function properly or something
| like that. If somebody is 5 feet or 6 feet they are still
| capable of having their whole body function. Yes, they may have
| issues due to their height but their body still works
| correctly. (Extreme heights, both tall and short, may cause
| issues and there could be conversations around that, but within
| the normal range there isn't any sort of function of the body
| that doesn't work)
| vsuperpower2020 wrote:
| It's crazy to me that we even need to explain the difference
| between variation in height and a non-functional organ. I
| don't know if people are just so open minded that their
| brains fell out, or if it's some new idea where everyone gets
| their own personal perception of reality and nothing is real,
| maaan.
| dotnet00 wrote:
| At the same level, it's worth considering the effect on
| society. Western society (and increasingly global society) has
| grown a lot more accommodating for certain disabilities because
| it is understood that the condition was not the person's choice
| and cannot be fixed. But if the condition is capable of being
| cured/managed with no serious side effects, and the cures are
| easily accessible, what is the right amount of effort society
| should put into being accommodating?
|
| These are all difficult questions, but it feels like we're
| going to eventually have to put aside our well founded fears
| over eugenics and confront these serious questions properly.
| For instance, many places offer the option to test
| fetuses/parents for markers of serious genetic disease and
| offer the option to terminate the pregnancy with the argument
| that the child would either not be viable or would have a
| horrible quality of life. On one hand this sounds reasonable,
| on the other hand it's pretty much a level of eugenics.
| foxyv wrote:
| > Where is the line between "gene therapy" to eliminate
| differences (such as deafness) and eugenics?
|
| The difference is usually a matter of informed consent.
| Eugenics tends to be non-consensual. Sterilization or forced
| birth control for unwanted individuals. Murder of unwanted
| individuals. Involuntary genetic modification of unwanted
| individuals will probably pop up eventually.
|
| Typically gene therapies are on living, consenting people with
| all the information to make a choice. It also doesn't usually
| result in germline modification. The sticky part is when you
| get to babies and fetuses. Can a mother consent for her fetus?
| What about germline modification? In-vitro gene therapy? Then
| you are getting into Brave New World territory.
| skybrian wrote:
| Here is a framework for thinking about it: raising population-
| level concerns and using them to justify laws restricting what
| children parents can have (or not have) seems like the pro-
| eugenics side. The reproductive freedom side is to take a
| laissez-faire attitude on how the human population changes. Let
| parents choose the children they want to have and it will
| probably work out.
|
| That doesn't make the issues easy. There are some forms of
| state coercion that people are sympathetic to. For example, in
| India, there is unfortunately a strong preference for male
| children, and there are laws to prevent sex selection. This is
| obviously reducing people's reproductive freedom because
| there's a state interest in a balanced sex ratio.
|
| Another example of state coercion that people are unsympathetic
| to is China, where the state had an interest in reducing
| population growth and imposed a one-child policy. Seems like
| that's eugenics? It's imposing personal hardship for a
| population-level concern.
|
| Along these lines, I'm wary of population-level concerns like
| "will deaf people die out." What could the state do about it?
| At the individual parent level, nobody should have to raise a
| deaf child if they don't want to, when it's unnecessary.
|
| But a tough case for the reproductive freedom side is: can deaf
| parents use prenatal testing to select for deaf children, if
| that's what they want? That's not a population-level concern,
| it's personal: specific parents want a deaf child. A lot of
| people have trouble with _that_ kind of reproductive freedom
| when they wouldn 't have an issue with wanting a boy or girl,
| because deliberately causing deafness sure seems bad _for that
| child._
| santoshalper wrote:
| Here's the problem with slippery slope arguments. You could
| substitute all medicine and your point would still stand. Do
| people with a limp need to be "fixed" or does it add character?
| You know who is the right person to decide that? The person
| receiving the therapy, or if they are a minor, their parents.
| Nobody else is well equipped to make the decision for them.
|
| I suppose I could be wrong, and this could be the start of
| Gattica, but I highly doubt it. I think far more likely is that
| over the next few decades, millions of people will be able to
| hear who otherwise would not have.
| dekhn wrote:
| Gene therapy has been an extremely slow game. Part of that is
| ethics, and part of that is technology. A single death in a
| single trial slowed down gene therapy for decades
| https://en.wikipedia.org/wiki/Jesse_Gelsinger I dedicated much of
| my biology training to learning how to carry out gene therapy
| only to conclude that it will continue to be the underdog in
| disease therapy for a long time. I do not expect to see large-
| scale germline modification for non-disease purposes in my
| lifetime (another 20-30 years).
| financetechbro wrote:
| Do not underestimate the entrepreneurial spirit when there is a
| profit to be made
| CSSer wrote:
| I expected to read that and find it was a fluke accident.
| Instead, it reads like the scientists shrugged before the
| injection and said, "What's the worst that could happen?"
|
| That's unreal. It killed monkeys under similar circumstances
| and the kid wasn't at his healthiest at the time of treatment
| either. Did they not care or was there some reason to believe
| that outcome was virtually improbable?
| dekhn wrote:
| I honestly don't know what they were thinking.
|
| BTW, most gene vectors today are based on lentiviruses...
| specifically, from HIV. It took a few tries before they found
| a method to reliably remove all the bad bits from the vector.
| See https://www.nature.com/articles/s41375-018-0106-0 and
| other articles on the evolution of HIV as a gene therapy
| vector.
| DarkNova6 wrote:
| > I do not expect to see large-scale germline modification for
| non-disease purposes in my lifetime (another 20-30 years).
|
| Could you please share what makes you think so?
| verisimi wrote:
| I'm glad this little girl can hear. But I don't understand how
| this can possibly work.
|
| We can read:
|
| > "So basically, we find the inner ear and we open the inner ear
| and infuse the treatment, in this particular case using a
| catheter, over 16 minutes," he said.
|
| Genes are in cells, right? It seems like what is being said is
| that this therapy goes in and alters all the cells. The altered
| cells then keep the alteration. Whatever it is that creates these
| cells, also knows to create this new type of cell - cos this is
| not an ongoing treatment.
|
| Anyway explaining whatever technical thing is going on here with
| the word 'infuse' is a bit simplistic. Can we not have some more
| detailed information?
| bglazer wrote:
| It's a virus that adds a bit of genetic code to cells in the
| ear. The new genetic code is the instructions for the protein
| that is broken in the the little girl (and other similar
| patients). The cell can then use the newly introduced DNA to
| make a protein. This protein restores the link between the
| auditory sensory cells and the auditory nerve cells.
|
| Regarding the word "infused", the viral particles are carried
| in an aqueous solution into the inner ear. The viral particles
| then do their work on the cells that the solution flows over.
| So it is literally infused, although that sort of elides the
| bit about the virus actually delivering the active bit of the
| treatment: the new gene.
| arjie wrote:
| My wife and I are selecting which embryos to implant because we
| have a related condition (this one is a mutation in OTOF, we have
| one in GJB-2). Being able to implant the embryos affected with
| this condition (carrying two copies of the gene - mine and my
| wife) would increase the number of viable embryos we have by 50%.
|
| It won't be in time for us to actually implement unless we're
| down to our last few embryos through failure. We were able to
| detect ours because we used Orchid Health to scan the embryo
| genome for monogenic conditions. But it's exciting to think that
| novel gene therapies might be accessible if we somehow fail to
| implant with the other embryos we have.
|
| All this stuff is very futuristic and it's definitely rescued us
| since my wife and I started dating and got married within the
| last year, by which time we were quite old.
|
| Very cool stuff from Regeneron.
|
| EDIT: I actually looked this up and got a reading list which I
| went through over lunch. There's quite a lot of work on this
| front.
|
| Regeneron/Decibel Therapeutics have DB-OTO and are developing a
| GJB-2 (the one we have) gene therapy too
| https://www.decibeltx.com/pipeline/
|
| Akouos has AK-OTO https://akouos.com/our-focus/
|
| There's a Chinese group that claims they had success in older
| patients (search for AAV1-hOTOF)
|
| The April issue of Molecular Therapy has a few of these. For a
| quick read look at the Oral Abstracts from the Presidential
| Symposium. Molecular Therapy Vol 32 No 4S1, April 2024
| 2dvisio wrote:
| You are lucky to know ahead of time about your respective
| mutations. We didn't (no family history and both asymptomatic
| carriers) and my son was born bilateral profoundly deaf
| (connexin 26). We have chosen the path of cochlear implant
| (which is an amazing technology). We are both looking forward
| to seeing advancements in therapies for GJB2 mutations sparing
| many parents (and children) what we have been through. However,
| corrective therapy for GJB2 might require much earlier
| discovery of the issue and earlier administration I believe, as
| usually those variants affect actual physical growth of hair
| cells in the cochlea.
| xyst wrote:
| As a person that's not deaf. It's great to hear scientific
| breakthroughs can help people experience life with this important
| sense.
|
| Although I think there's a train of thought that think being deaf
| is not a genetic deficiency.
|
| Would deaf parents raising a child that is not deaf struggle?
| Would assimilation into the family unit be difficult?
|
| Personally, I think the level of isolation as a child from their
| parents would have a certain degree of impact on mental health.
| lapetitejort wrote:
| There's some good movies based around deafness:
|
| https://en.wikipedia.org/wiki/CODA_(2021_film)
|
| https://en.wikipedia.org/wiki/Sound_of_Metal
|
| And a bad video game:
|
| https://en.wikipedia.org/wiki/The_Quiet_Man_(video_game)
| tnorthcutt wrote:
| I strongly endorse both of the mentioned movies. They're both
| excellent.
| _whiteCaps_ wrote:
| Anecdotally, I know of one hearing person raised by deaf
| parents, and he's fluent in sign language. There's no isolation
| between them.
| codeulike wrote:
| How it actually works (from
| https://www.fiercebiotech.com/biotech/little-protein-factory... )
|
| _DB-OTO is a cell-selective AAV gene therapy for children with
| hearing loss stemming from a mutation to the otoferlin gene.
|
| The otoferlin protein is expressed in the sensory hair cells of
| the ear, which have tiny cilia that move as vibrations come into
| the ear. These cells help signal between the auditory nerve and
| the hair cells, passing information from the ear to the brain.
| Children born with this type of genetic hearing loss have the
| hair cells and can detect the signal coming into the ear.
|
| "But they can't get that message from the ear to the brain,
| basically, because otoferlin is critical to enable that
| communication," Whitton explained.
|
| That's where DB-OTO comes in. The adeno-associated viral vector
| delivers the gene therapy to the ear to provide a payload of cDNA
| that expresses the protein in the hair cells that are missing it.
| The hypothesis was that if they provided the gene, patients could
| eventually begin to hear on their own.
|
| Regeneron does not yet know how long the effect will last, but
| "rigorous" preclinical tests were done to get a sense of
| durability, according to Whitton. Since those hair cells targeted
| by the gene therapy do not turn over during a person's lifetime,
| they believe the effect should be persist once restored.
|
| "The ones that you're born with are the ones you will have the
| rest of your life, so if we can create a little protein factory
| in those cells, make the protein that's missing, there's reason
| to believe that you could have long-term benefit," Whitton said._
|
| Note this is not CRISPR, its more like just adding little chunks
| of DNA into the cell (which I think is called upregulation).
| 'Gene Therapy' can mean many other things apart from Crispr,
| there's a whole complicated pipeline of processes that can be
| targeted.
| causality0 wrote:
| _"As a charity, we support families to make informed choices
| about medical technologies, so that they can give their deaf
| child the best possible start in life."_
|
| A pleasantly measured response. For those in the know, has the
| deaf community calmed down in recent years? I remember a time
| when they were radically opposed to anything that smelled like a
| "cure" for something they considered more of an identity than a
| disability, though I haven't read anything on it in a long time.
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