[HN Gopher] Gene therapy restores hearing to children with inher...
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Gene therapy restores hearing to children with inherited deafness
Author : keploy
Score : 478 points
Date : 2024-06-08 20:40 UTC (1 days ago)
(HTM) web link (cosmosmagazine.com)
(TXT) w3m dump (cosmosmagazine.com)
| gota wrote:
| This stuff seems miraculous.
|
| > "Through minimally invasive surgery, Shu injected adeno-
| associated virus (AAV) engineered to carry and deliver
| functioning copies of the human OTOF transgene, into the
| children's inner ears. "
|
| Can't read that and not get curious, excited, for the future.
|
| Congratulations to all those involved in the research and thanks
| to all who contributed to it - including all taxpayers if public
| funding was given, even indirectly (i.e. in the schooling and
| education, grants, for said researchers)
| dyauspitr wrote:
| I can't wait for a geneCAD where we for example, design wings
| for a human body and then it works out the rest and generates a
| CRISPR based AAV that you can inject yourself with. True race
| and sex changes too.
|
| Hopefully in the next 50 years but that's wishful thinking.
| kevin_thibedeau wrote:
| There are potential serious downsides if these inserted genes
| end up on a different chromosome than normal and become
| carried by gametes to offspring who may suffer from
| overexpression.
| dyauspitr wrote:
| I presume at the point we can generate CAD like designer
| gene modifications, overexpression would just be another
| problem that can be fixed by more modification.
| AuryGlenz wrote:
| Eh, maybe you'll run into the problem the Asgard had in
| Stargate. Too much editing over time = couldn't procreate
| anymore. Little bugs add up.
| ben_w wrote:
| That was a plot device that didn't make sense to me: they
| could upload and download a functional copy of their
| brains (and also human brains), but they didn't keep a
| backup copy of their old DNA?
| antegamisou wrote:
| We need to keep away biotech OpenAI-wannabes apparently.
| mylons wrote:
| it's happening! i just finished something that assists in
| "CRISPR Design" and helps gene editors.
| nkrisc wrote:
| Taking it seriously for a moment, that still seems outlandish
| even in a sci-fi scenario. The amount of changes that would
| be necessary to the body for a human to achieve autonomous
| powered flight would be substantial.
|
| Given our overall density, we would need enormous wings and
| musculature. Consider that the heaviest flying birds alive
| today weigh maybe 40lbs and have a wingspan of 8ft or so. If
| we naively extrapolate that linearly then an adult weighing
| 160lbs would need a 32ft wingspan.
|
| There were flying pterosaurs that weighed much more than the
| heaviest flying birds today, but they were also the size of
| small planes and it's a bit of a debate how well they even
| flew. They may have struggled to even take flight.
|
| So injecting yourself with some designer DNA isn't just going
| to make you grow wings, it would have to completely transform
| you into a completely different creature, simply due to the
| physics of flight.
|
| Additionally, you need not only to be able to fly, but your
| body needs to function well enough to stay in this new state.
| You would also likely need an enormous caloric intake to
| support the massive new growth, or it would take a very, very
| long time.
|
| It wouldn't be designing wings for a human, it would be
| designing a be creature _based_ on a human but not human at
| all, really. Call me shortsighted but I don't really see how
| that will ever be possible.
| dyauspitr wrote:
| Your point seems to be that massive changes are required to
| achieve wings. I'm saying that's not impossible and an
| acceptable modification to whoever wants to do this to
| themselves. As long as you can maintain the brain as is, I
| don't see there being a problem with radically modifying
| the rest of the body.
|
| Argentavis magnificens had a wingspan of around 24ft and
| weighed around 72 kgs or a 160lbs which is close to what an
| average human weighs.
|
| If you compare growth rates to other mammals like
| elephants, I doubt a change like that would take much more
| than 5-10 years.
| nkrisc wrote:
| > As long as you can maintain the brain as is,
|
| That's the question, can a human sized body that can fly
| additionally support a human sized brain? I suspect you
| would have to spend nearly every waking minute eating to
| support both. Or at least a substantial portion of your
| day. No time for hacking, gotta eat.
|
| You'll probably have to pay full up front for this, as no
| one will finance you since you'll be too busy foraging
| for sugary fruit or carrying livestock off to your eyrie
| to work a job to pay it back.
|
| Finally, this raises another question I won't even
| attempt to answer: is it even possible for you to still
| be "you" in another body? How responsible is your body,
| beyond just your brain, responsible for making you who
| you are?
| nonameiguess wrote:
| It's about as close to impossible as you can get. If you
| tried to do it in the womb, too much deviation from a
| regular human fetus won't be carried to term. If you try
| to do it after growth plates have closed, you'd have to
| destroy every bone in the body first, which would kill
| you. That gives you some kind of post-birth, pre-puberty
| window over which some sufficient level of body
| remodeling can at least happen in principle, but you seem
| to be underestimating the level of remodeling to do this.
| You'd need to drastically reduce bone density, which
| would leave you extremely susceptible to injury. You'd
| have to undo human adaptations in the spine and pelvis
| for upright posture, which would be extremely painful.
| You'd need to effectively swap out the glutes with pecs
| and undo the adaptations for brachiating arms. Things
| like your eyes and ears and basic breathing apparatus are
| not well-adapted for flight. Things like where blood and
| lymph and other bodily fluids tend to pool in the human
| body versus where they do in the bodies of flying
| animals. Just as laying down for too much time will cause
| it to pool in places your body can't easily clear right
| now, being horizontal for flight would have the same
| effect.
|
| It's not just a matter of growing wings. And yeah, the
| energy demands of making all these changes, as others
| have pointed out. The only kinds of animals that go
| through this level of non-fetal metamorphosis are insects
| with weights measured in the tens of grams, energy needs
| that kind be sustained by something like a cocoon. How
| would you meet the energy demands of an adult human going
| through metamorphosis? You couldn't do it by eating, not
| only because your gut can't actually digest the amount of
| food you'd need (you don't have an elephant gut) but also
| simply because being conscious through the process,
| unlike insects in a cocoon, would be so absurdly painful
| that I doubt you'd be able to function and do anything at
| all, let alone spend all of your time finding and eating
| food. You'd need to be put into a medical coma and
| injected with intravenous nutrients to have any shot at
| all.
|
| Why on earth would we ever try this? In reality, giving
| yourself genes to grow wings would just kill you.
|
| Look at this picture from Wikipedia showing Argentavis
| side by side with a human: https://en.wikipedia.org/wiki/
| Argentavis#/media/File:62628-A...
|
| What sorts of processes do you imagine are necessary to
| stretch the human body to the size of the Argentavis body
| without adding any weight? It'd be like getting flattened
| by a steam roller, then drawn and quartered. Bodily
| tissue isn't balloons.
| slfnflctd wrote:
| "...are you suggesting coconuts migrate?"
|
| Seriously, lesser-schooled folks don't realize the extent
| to which evolution took tiny variations over an extremely
| long time to achieve physical flight. The way it arose
| differently in pterosaurs, birds and bats is fascinating.
|
| I think younger children are capable of understanding more
| about genetics than we often suppose. More of these
| concepts should be taught at younger ages.
| dyauspitr wrote:
| I have a bachelors in bioengineering, I'm not a "lesser
| schooled individual". Just because evolution took a long
| time doesn't mean we have to, you can run millions of
| simulations virtually, something that nature has to do
| over millions of years. Are the simulations going to be
| perfect? Probably not but there's a lot that can be
| gleaned through simulations combined with observations in
| the real world.
| awwaiid wrote:
| (a) I like your analysis (b) maybe the wings are just for
| show so that you flap them out at clubs every now and then
| right when the music hits the drop or something and
| everyone is like WHHAAA????!!!!
| JumpCrisscross wrote:
| > _it would have to completely transform you into a
| completely different creature, simply due to the physics of
| flight_
|
| In OP's defence, they never mentioned flight. Maybe they
| just want a peacock train.
| nkrisc wrote:
| Ok, fair enough. I hadn't considered that. In my mind,
| wings you can't fly with are worse than no wings.
| galangalalgol wrote:
| Tell that to am emu or ostrich, or don't, their claws
| aren't vestigial.
|
| I would opt for smaller tweaks like an extra rhodopsin
| folding with longer features so I could see near (like tv
| remotes) ir. re-enable hibernation. Things some mammals
| already have would be good starts.
| nkrisc wrote:
| I meant as a human.
| diego_sandoval wrote:
| All that energy will be better spent designing jetpacks
| powered by portable nuclear reactors.
| hinkley wrote:
| A futurist I knew of long ago pointed out that the Moon's
| gravity is light enough that the human skeleton could
| achieve sufficient lift without sustaining damage in the
| process.
|
| True, you might have to be a junior Olympian to do it, but
| it's possible.
|
| On earth your pectorals would tear off of your sternum long
| before you achieved takeoff.
| BurningFrog wrote:
| I thought the same thing.
|
| The lack of Moon atmosphere is a real problem though.
| abecedarius wrote:
| Heinlein, "The Menace from Earth"
| hinkley wrote:
| Don't bump into the top of the dome. You'll get charged
| for disinfecting the equipment.
| taf2 wrote:
| That would be cool - maybe a simple 20/20 vision would be a
| great next step after hearing
| akoboldfrying wrote:
| Let's try to fix the world's vast number of actual, boring
| health problems before trying to add the equivalent of
| spoilers and chrome-plated hubcaps to perfectly healthy human
| bodies.
| dyauspitr wrote:
| You can do both things at the same time.
| akoboldfrying wrote:
| That's true if we assume unlimited resources and equal
| awareness/perceived social value of the two applications.
| But I think the former doesn't hold, and the latter is
| greatly influenced by sites like HN, where I'm
| disappointed to consistently (if not exclusively) see
| breathless proposals for ways to design shinier hubcaps
| whenever some promising new technology appears.
|
| Yes, they can and likely will both happen to some extent,
| but I think they aren't independent, so I feel justified
| in trying to nudge the public conversation back towards
| the issues that I think matter more.
| evilduck wrote:
| Cosmetic surgery for vanity has helped improve the
| techniques and procedures and even the number of skilled
| practitioners that can then help those with
| disfigurements and deformities.
| JumpCrisscross wrote:
| Hell, cancer treatment for pets has advanced human
| oncology [1]. Scientific discovery is rarely zero sum.
|
| [1] https://www.upstate.edu/whatsup/2019/0220-treatment-
| for-cani...
| _factor wrote:
| And cigarettes have benefited the lung cancer research
| centers. Just because it works doesn't make it the best
| course.
| JumpCrisscross wrote:
| > _breathless proposals for ways to design shinier
| hubcaps whenever some promising new technology appears_
|
| I wouldn't underestimate the emotional toil of dealing
| with illness and death [1].
|
| Tackling these problems head on requires (a) exposing
| researchers to that toil and (b) removing from the pool
| anyone who doesn't want to do that. Given how much of
| Silicon Valley culture is built on borderline-ludicrous
| optimism (once it's over the border it no longer
| qualifies as building), it makes sense that the indirect
| approach finds resonance here in a way the direct one
| does not.
|
| Where your argument finds ample purchase is in the
| asymmetry of idiot luxury spending in our society to
| basic and applied research of any kinds, wings or Wilm's
| tumour.
|
| [1] https://www.statnews.com/2016/09/19/mental-health-
| doctor-res...
| smegger001 wrote:
| In all likelihood if we were to get to the point of it
| being safe and cheap enough for genetic engineering
| cosmetic "upgrades" then that would through economies of
| scale drive enough money that medical research funding
| would be a solved problem. Also anyone wanting the chrome
| pipes and spoilers package is going to want their engine
| tuned. Whats the point of having functional wings if you
| heart blows out trying to use them.
| inglor_cz wrote:
| "they aren't independent"
|
| That interdependence may be beneficial, though.
|
| Experience and revenues from cosmetic treatments will
| help health-restoring treatments.
| jdietrich wrote:
| Economies of scale. Shiny hubcap manufacturers will very
| generously subsidise the R&D for other, more worthy users
| of a technology. They aren't competitive or independent,
| they're synergistic. The billions of dollars we "wasted"
| on making video games look more realistic gave us a
| revolution in high-performance computing that nobody
| could have created intentionally.
| refurb wrote:
| Each gene therapy is a unique "medicine". There is little
| economy of scale, at least for the hardest part.
| ninjanomnom wrote:
| That's due to a lack of theory and useful abstractions in
| the tools used to modify genes. We're so early on in the
| development of that field that if this were computers,
| we'd still be assembling devices by arranging logic gates
| by hand. Custom cosmetic gene therapy is a great way to
| incentivize the better tools.
| UniverseHacker wrote:
| Moreover, they are at this stage the exact same problem-
| requiring not competing but identical research: we need
| to understand generally how biology works enough to
| predictably engineer it.
| JumpCrisscross wrote:
| > _they are at this stage the exact same problem-
| requiring not competing but identical research_
|
| I'd go one step further in arguing they're complementary.
| The personalities that will work on _e.g._ wings or
| longevity are not the types drawn to curing diseases,
| much less the boring ones.
|
| Broadening the field from solving mundane problems to
| solving daring ones is net positive. You gain
| personalities that would have otherwise stayed away. (You
| see something similar in space programmes.)
| abecedarius wrote:
| And a huge part of what steered talented people into
| programming over biomedicine was the relative freedom.
| The more you can do without the drag of convincing a vast
| bureaucratic/political machine to let you try your idea,
| the more people will contribute to progress.
| refurb wrote:
| Actually you can't because there is a limit to resources
| in both time and money.
| LoganDark wrote:
| I wish it were possible to achieve an entirely _non-human_
| body, but I don 't think that's going to happen within any
| of our lifetimes.
| telesilla wrote:
| Make sure to read Daniel Dennett before you change too
| much, you might forget who you are and become someone
| else entirely.
|
| https://en.wikipedia.org/wiki/What_Is_It_Like_to_Be_a_Bat
| LoganDark wrote:
| I have Dissociative Identity Disorder, so I already
| become someone else all the time...
|
| In all seriousness, at times I do genuinely wish species
| transition were possible. Imagine gender dysphoria but
| for species, so species dysphoria. It may sound insane,
| but honestly so can the entire concept of dissociative
| identities.
|
| I don't know if I'd want to change my brain, but the
| physical properties of the body definitely. I want the
| body to be a fluffy quadruped...
|
| Thank you for the link though, that is very interesting.
| It is intuitive, but not something that normally comes to
| mind~
| ben_w wrote:
| I remember the Therian and Were community, back in the
| day. Some overlap with the furry community, but not a
| perfect subset.
| simianparrot wrote:
| It is the very definition of insane. That doesn't mean we
| shouldn't have sympathy for it, but it's important to
| recognise when certain aspects of our psyche isn't sane
| or good and accept that.
| abdulhaq wrote:
| you are what you are, there's no escape from that
| vsuperpower2020 wrote:
| I hope you're joking about wanting to become a "fluffy
| quadruped". Or, if not, I see why we had asylums.
| Teever wrote:
| What do you get from admonishing someone for saying the
| kinds of things that they just said?
| akoboldfrying wrote:
| Why do you consider an attempt to focus a public
| discussion on the most important uses of a new technology
| to be an admonishment?
| fragmede wrote:
| it certainly reads as one, and calling them "most
| important" reveals your bias that those uses are more
| important too.
|
| Like it or not, the way society is currently arranged,
| making stuff for rich people is more profitable than
| making things for poor people, and greed can kick in, so
| people do things out of love of money rather than
| necessity. were the deck stacked more equal, maybe things
| would be different, but human psychology is devilishly
| complex.
| marvin wrote:
| Just ensure that there's good a insurance system to finance
| the rare health issues, and the market will take care of
| the hubcaps and spoilers.
|
| Solving e.g. male pattern baldness or bone loss from
| peridontitis means guaranteed billionaire from out-of-
| pocket treatments alone.
| gurumeditations wrote:
| Sex changes/gender transitions is an actual boring health
| problem. The inability to assume the correct gender for a
| trans person often leads to social rejection, violence,
| poverty, prostitution, murder, and suicide.
| Almondsetat wrote:
| If through gene editing you could also erase someone's
| disphoria what option would you choose?
| wouldbecouldbe wrote:
| That's like trying to cure depression by getting rich. It
| hardly ever works
| Almondsetat wrote:
| What?
| wouldbecouldbe wrote:
| Cutting off body parts to treat body dysphoria is
| something that should be done with great care and rarely
| leads to solving the underlying mental problems.
|
| Trans is a much discussed variant that is hard to have a
| normal talk about, but there are many more variants, for
| instance women hating their breast & wanting to remove
| them, I think most people here would agree that intensive
| psychological treatment are preferable to actually
| removing healthy body parts. But in the end an adult can
| do what they want.
| sillysaurusx wrote:
| Isn't it obviously good to get rid of someone's problem?
| Otherwise it wouldn't be a problem.
| Almondsetat wrote:
| If your perception doesn't match your body, would you
| prefer to change the perception or change the body?
| sillysaurusx wrote:
| It seems pretty clear to me that changing one's body is
| preferable to changing who you are. The former is
| something you're born with, but the latter is something
| you can decide for yourself.
| Almondsetat wrote:
| Suppose, as you do, that your body is not who you are.
| Then your identity lies solely in your brain. But if
| that's the case why would disphoria even exist?
|
| If you feel like a man but you don't look like a man, why
| could that cause any identity problems? It must mean your
| body is actually part of your identity, so changing it
| changes who you are
| sillysaurusx wrote:
| The problem with this argument is that it leads to the
| conclusion that all change is pointless. If your body is
| who you are, and you can't control it, then it's best
| just to accept whatever you're given.
|
| That's contrary to most of human history, where we
| specifically try not to take what we're dealt.
|
| It's useful to ask yourself: why should vaccines be
| "allowed" (or "accepted" or "they're good") but body
| change shouldn't be? They're both as artificial as a
| Twinkie.
| groovy2shoes wrote:
| Erasing someone's dysphoria would also fundamentally
| change their identity and personality. If I were to
| suffer a head injury today that so altered my
| personality, the result would be very unpredictable. I
| could become a better person, or a worse one. I could
| lose my wife, my career, everything. But even if the
| outcome were positive, I wouldn't be _me_ anymore. This
| me would cease to exist, replaced by a new one.
|
| On the other hand, a bodily alteration is much more
| predictable, and, importantly, I'd still be _me_. I
| wouldn 't become some other person.
|
| This me has an instinct for self-preservation. Thus, if
| both options were available, I would absolutely choose
| transition over erasure.
| Almondsetat wrote:
| You seem to come from the point of view that body and
| mind are quite separate, and that changing your body
| through surgery and hormones and other chemicals has less
| effects on the "real you" than a change in brain wiring
| would cause.
| jmcgough wrote:
| Most of those problems in the US are caused by lifestyle,
| and can't really be changed without behavioral
| modification. And a lot of our health issues are a matter
| of poor access to healthcare.
| landryraccoon wrote:
| This assumes that the fundamental nature of human beings
| can't be changed, which is the presupposition that
| genetic engineering denies.
|
| The entire point of genetic engineering is to try to
| engineer people at the cellular level. A fanciful example
| would be modifying human metabolism to be more similar to
| those of birds that consume most of their calories in the
| form of simple sugars. Humans can't eat a diet of 100%
| sugar and remain healthy, but other animals can. It may
| be possible to change that fact, if we know how to edit
| our genes.
| xedrac wrote:
| Are you saying you could see sugar being somehow folded
| into the many different proteins that make up the vast
| number of tissues in our bodies. Or are you saying our
| tissues could be constructed out of sugar crystals
| instead?
| Almondsetat wrote:
| Has there been any cases of this happening for other
| technologies?
|
| That's like saying "now that we invented canals let's try
| to fix the world's irrigation problems before making
| fountains and water parks"
| BurningFrog wrote:
| We're 8000 million people.
|
| We can, and always will, work on many different things at
| once.
| vsuperpower2020 wrote:
| The amount of people who can actually work on anything
| meaningful in this field is double-digit at best. Sure,
| if you add up "many different things" you have plenty of
| people who can work on plumbing, programming, and gene
| editing. What are you going to do for geneCAD? Right,
| absolutely nothing. It doesn't matter how many of you
| there are; you could be 8000 million or 8000 trillion
| people and still accomplish nothing.
| gibolt wrote:
| This assumes things are static. There are millions of
| programmers now, but certainly weren't 100 years ago.
|
| The tools to investigate this will get cheaper and
| easier, driving more people into the field hoping for the
| next big win, a big payout, or just to make an impact.
|
| Anyone can make a small circuit design have have a fab
| print it for you. The same could happen here, all you
| need to do is provide the sequence
| m3kw9 wrote:
| Na, this isn't it, you one of them that talks let's solve
| poverty before spending money on xyz
| narrator wrote:
| No doubt you'll see an Android/Apple split and the Apple
| people won't be able to date the Android people because of
| incompatible augmented pheromones that smell funny if you're
| not on the same platform.
| UniverseHacker wrote:
| Synthetic biology CAD software does exist, and works better
| than most people would expect, but of course are not at the
| level you are imagining yet.
| Nesco wrote:
| Could you provide some resources/links please?
| UniverseHacker wrote:
| It's hard to summarize because there are about a dozen
| different categories of things that could reasonably
| considered "biological CAD" and often would all be used
| together in a single synthetic biology project.
|
| For example: Retrobiosynthesis simulates biochemistry
| backwards, to find the steps necessary for a biological
| system to build something, usually a small molecule.
| Galaxy-SynBioCAD / Retropath would be one example:
| https://jfaulon.com/galaxy-synbiocad-portal/
|
| Constraint based metabolic modeling models cellular
| metabolism, and lets you simulate adding and removing
| chemical reactions to a cell, and predict the outcomes.
| COBRApy would be one example software tool:
| https://opencobra.github.io/cobrapy/
|
| Design editors for DNA plasmids, like the Teselagen
| design editor let you construct DNA sequences
| representing new biological capabilities to be added to
| an engineered cell, which can then be synthesized or
| constructed. Teselagen design module:
| https://teselagen.com/design-module/
|
| Generative AI systems can 'hallucinate' functional
| proteins and DNA sequences that meet a design
| specification for function and/or shape. For example,
| GenerateBio's Chroma model can literally take a 3D file
| designed in a standard CAD program, and then
| automatically come up with an amino acid sequence that
| will fold into a protein with that exact 3D shape- and it
| actually works. https://github.com/generatebio/chroma
|
| An emerging field is coupling all of these types of tools
| with predictive models to enable 'inverse design' where
| you create a spec of what you want, such as a material
| with some desired properties, and it will automatically
| suggest biological routes to it.
| inglor_cz wrote:
| Our bodies are very much not suitable for flight. Birds look
| differently from the inside.
|
| It might prove easier to grow biological pylons for external
| jet engines...
| hinkley wrote:
| Dan Simmons, Hyperion Cantos. "Biosculpting"
| TyrianPurple wrote:
| Excuse me, are you The Qu?
| m3kw9 wrote:
| I thought you can't just inject genes and then the body will
| start replicate it. Does it need periodic injections?
| rguiscard wrote:
| That is why the gene is put into a harmless virus which will
| injects the gene into cells. It takes advantage of what virus
| usually does.
| toufka wrote:
| If the DNA is in the cell's nucleus, the DNA will be utilized
| to produce whatever gene is encoded in the DNA. But if the
| DNA is just floating around on its own it will not survive a
| cell division event and the material would need to be
| periodically reinjected to keep working. However, if the
| injected DNA is part of a full chromosome, it will be
| replicated when the cell divides - and will be permanent as
| long as the cell or its progeny survive.
|
| Some viruses will just inject the DNA into cells, but will
| not become part of the cell's genome ("transient"
| transduction). Other viruses (like lentiviruses and these
| adeno-associated viruses [AAVs]) inject their DNA not just
| into the cells, but also have machinery that splices their
| payload DNA directly into the cell's chromosomes
| ("integrated"). The location in the genome of the splicing
| event is relatively random. Random is not necessarily great
| as it could interrupt other genes already in the chromosome.
| CRISPR is a now-famous tool that helps "integrate" DNA into a
| specific spot in the genome by being guided to a specific
| location with a small piece of a specific sequence.
|
| Once the DNA is integrated, any cell, and any of the cell's
| progeny, will produce or "express" the gene on the delivered
| DNA. In this case, they delivered the 5991 characters of DNA
| associated with the OROF gene [1].
|
| [1] https://en.wikipedia.org/wiki/Otoferlin
| rekttrader wrote:
| Thank you for this description of how it works. It seems
| like truly beautiful and terrifying magic.
| bglazer wrote:
| This is actually not totally correct. AAV's form episomes,
| which are circular DNA structures that are basically extra
| chromosomes. The fact that AAV's don't randomly insert
| themselves into DNA makes them safer for clinical uses like
| this.
|
| https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2519600/
| tim333 wrote:
| I'm sure there will be other treatments based on AAV and
| CRISPR. I'm interested in ALS as a relative has it and that
| stuff is one of the only approaches that might work. The had a
| go on mice with so so results - lived longer but no cure
| https://www.cell.com/molecular-therapy-family/molecular-ther...
| Something1234 wrote:
| Wait until they have kids. The deafness gene will be passed
| along. Soon enough we'll be like the cars with the hardware
| without the software or the locked features.
| david38 wrote:
| We have this already. As a species we are susceptible to many
| diseases which we have to take vaccines for, every generation.
| pfannkuchen wrote:
| I don't think susceptibility to viral diseases like measles
| is typically regarded as a genetic defect, is it? Any more
| than being flammable is a genetic defect, anyway.
| roywiggins wrote:
| There are a few people who are genetically immune to HIV,
| but it's quite rare. Whether everyone else is therefore
| genetically deficient is sort of a matter of perspective, I
| suppose.
|
| https://en.m.wikipedia.org/wiki/Innate_resistance_to_HIV
| bitcurious wrote:
| Fortunately won't be a big issue, as:
|
| >OTOF-related deafness is inherited in an autosomal recessive
| manner. If both parents are known to be carriers, each sib of
| an individual with OTOF-related deafness has at conception a
| 25% chance of being deaf, a 50% chance of having normal hearing
| and being a carrier, and a 25% chance of having normal hearing
| and not being a carrier.
|
| source: https://www.ncbi.nlm.nih.gov/books/NBK1251/
| patmorgan23 wrote:
| How is this any different from people who suffer from other
| genetic disorders that we have treatments for? Or people who
| just suffer from a chronic disease that requires regular
| treatments/medication for them to stay alive/health? (HIV,
| Diabetes, etc)
| BriggyDwiggs42 wrote:
| Deaf people can already have kids
| tithe wrote:
| And we'll cure them too.
| dfadsadsf wrote:
| In vitro fertilization (IVF) combined with preimplantation
| genetic screening (PGS) is becoming increasingly mainstream.
| This advanced technique allows us to select embryos with
| healthy genes, thereby ensuring that babies are born healthy or
| at least reducing the risk of genetic diseases. Very expensive
| in US but is getting very affordable in Eastern Europe and
| Asia.
|
| Another alternative is selective abortions after early genetic
| testing (though ethic and morale concerns here are huge).
| houseplant wrote:
| that crazy pro-natalist fascist couple that's been all over
| the news lately do this. They pick and choose which of their
| embryos are the most fit overall, and/or which have blond
| hair I'm sure, and plan to have as many of them as possible.
| Seems a shame to go through all that, only to beat your kids
| in front of a newspaper reporter and give them neuroses
| that'll likely make them rebel against you, but I'm sure if
| they can invest in crypto stocks they must be very good at
| predicting the future right?
| teaearlgraycold wrote:
| Damn. Might as well just kill ourselves because our children
| inherit our problems. My parents need glasses, I'll need
| glasses. Fuck.
|
| /s
| 8f2ab37a-ed6c wrote:
| Any different from people needing glasses?
| zmmmmm wrote:
| Apart from the other points people have made, it's worth noting
| that these days parents can avoid having children with
| inherited genetic disorders through IVF. While there will
| always be a component of spontaneous mutations resulting in
| genetic disease, we may approach within a couple of generations
| a state where most inherited disorders actually disappear or
| reduce to vastly lower prevalence over time.
| nicolas_t wrote:
| Some backward countries (like my own France) forbid that due
| to concern over eugenics.
| jubalfh wrote:
| ah, an eugenicist. and yet, if i stated that eugenicists should
| be eliminated from the gene pool, you'd be outraged.
| lazyasciiart wrote:
| Obviously: for a start, since there's no genetic test for
| eugenicism, you'd have to wait and eliminate them as adults.
| They may have already reproduced by then, but there's also no
| clear mechanism for inheritance so we don't even know if that
| is a problem. If they adopted children do we consider those
| kids to have inherited it?
| ThrowawayTestr wrote:
| The fear of being beholden to a company for your health is
| not one to dismiss so easily.
| jubalfh wrote:
| get a better healthcare system.
| nkrisc wrote:
| I'm sure you have some undesirable genes too, whether you're
| aware of it or not.
| grantsh wrote:
| Typical engineers, tipping into eugenics to treat society as an
| optimization problem...
| roygbiv2 wrote:
| Gene therapy is coming on well. Hopefully it'll help my kid when
| he's older. From what I'm being told, the gene that effects him
| is very large and difficult to fit into the viruses they use for
| gene therapy. My understanding is very limited so I could be very
| wrong here.
| speedylight wrote:
| How hard is it to introduce permanent mutations to DNA in adults,
| across every cell in the body? That seems like the holy grail of
| gene editing to me!
| zac256 wrote:
| This is an area of active research, and there are many issues
| to solve. A technology that distributes a gene editor
| throughout the body is called a delivery vector, and it is
| typically a modified virus.
|
| After the patient is two years old, many large molecules do not
| pass through the blood brain barrier. Typically most of the
| treatment ends up in the liver. Viruses and the gene editor can
| be toxic. Combining the two previous points the correct dose
| for most of the body can be highly toxic to the liver. The
| delivery vector may support genes up to a specific size (in
| kilobases) which may be smaller than the gene you are trying to
| fit. Sometimes you don't want to target organs that the
| delivery vector hits. Sometimes you want to target organs that
| the delivery vector misses. And more.
|
| There is rapid progress being made here and all kinds of
| caveats and nuance to the above.
| inciampati wrote:
| How perfect can your reaction be? Can you get to
| 99.999999999999%?
| sircastor wrote:
| I'm curious about the effect on the deaf community. I understand
| there's resistance to "fixing" deafness as some consider it a
| component of their culture and community, not unlike queer people
| and the attempts to "fix" them.
|
| https://en.wikipedia.org/wiki/Cochlear_implant#Criticism_and...
| devilbunny wrote:
| There is a fascinating documentary about this, but I cannot
| recall its name. One segment talks about a form of sign that
| represents sound, so that the child learns their family's
| language (rather than sign language, which is another language
| entirely). It is very unpopular in the deaf community despite
| its advantages for daily life.
| lazyasciiart wrote:
| Sounds like Signed Exact English, which is disliked both for
| the context around it and for being more awkward than a
| natural sign language (e.g I think it doesn't take advantage
| of using positions in space for grammar, it only uses the
| hand shapes and movements?)
|
| I don't know of any language agnostic phonetic sign used as a
| first language for children: that sounds about as hard as
| making them learn through writing instead of talking.
| gugagore wrote:
| They are likely talking about "cued speech".
| akoboldfrying wrote:
| >It is important to consider the sociocultural context,
| particularly in regards to the deaf community, which has its
| own unique language and culture
|
| Frankly, I disagree. I think a deaf person should be entitled
| to decline a low-risk treatment that would cure or mitigate
| _their own_ deafness -- but to make that decision for a child
| is altogether different. Deliberately restricting a human being
| 's sense experience throughout their lives should be considered
| child abuse, in the same basket as female genital mutilation.
| It's also about the most selfish thing I can imagine --
| especially given that there's no reason I can see why a hearing
| child of deaf parents can't grow up "bilingual", learning both
| spoken and sign languages.
| brenns10 wrote:
| This presupposes an awful lot. If it were truly a risk free
| magic wand you could wave, then I could see your point.
|
| But none of the current options are risk free, and I doubt
| this one will be. They all have risks, side effects, and
| probably the chance of failure. And then the question is how
| low of a risk is acceptable to restore a child's hearing.
| These are people who would live an otherwise healthy and
| normal life, and they'd grow up in an accepting deaf family
| which is likely already plugged into a community. I can't
| imagine how it would feel to have a serious side effect (or
| worse) impact your child when you know they could have gone
| without that procedure and lived a happy, fulfilling life.
| But I also understand the desire to give your child every
| possible opportunity.
|
| All of that is to say, I think it is reductive to compare
| this to child abuse or FGM. There's no right decision, and
| parents absolutely will need to make a difficult choice,
| hopefully prioritizing their child's safety and future above
| all else.
| josephcsible wrote:
| It's often not about the risk, though. It's sadly common
| for uppercase-D "Deaf culture" people to decline these
| kinds of treatments for their kids because they want their
| kids to be deaf too. That's absolutely child abuse.
| houseplant wrote:
| > Deliberately restricting a human being's sense experience
| throughout their lives should be considered child abuse
|
| I've got relatives that teach deaf children. most deaf kids
| who grow up in societies with mostly hearing kids, want to be
| normal more than anything. At the same time, for many who are
| eligible for cochlear implants, getting that early before
| speech development begins in earnest is very important,
| ideally when they're just a toddler or younger. Early enough
| and you'll barely notice any difference in their speech,
| understanding, etc. However, their parents often decline it
| and say they want to let their child be the one to choose
| when they're old enough to- which is far, far outside the
| best window for developing that area of the brain, as well as
| speech. They might be behind in those ways for the rest of
| their lives if they're not given therapy to help catch up.
|
| I understand both sides I guess, but if consent is the issue,
| why not give them the implant and let them choose to
| disconnect the receiver then when they're older? Obviously,
| because they won't want to, and rarely ever do.
| lannisterstark wrote:
| >not unlike queer people and the attempts to "fix" them.
|
| To be fair, LGBTQ community isn't 'broken.' Some people are
| inherently gay, lesbian, etc.
|
| Deafness _is_ an actual defect. The weird thing that we should
| not strive to fix human defects when they are truly defects is
| astounding.
| alexey-salmin wrote:
| Some people are inherently deaf, what's the difference?
| Veraticus wrote:
| Being LGBTQ is not a disability or handicap; it's simply
| different, like being red-haired or left-handed.
| alexey-salmin wrote:
| What makes you think that deafness is not the same as
| being left-handed?
|
| I mean objectively, not based on the current cultural
| norms which will be very different 50 years from now.
| Veraticus wrote:
| "Objectively," left-handed versus right-handed changes
| nothing about a person's capabilities in the world,
| whereas being deaf does.
|
| Cultural norms is an interesting comparison. Despite
| there being no actual difference in capacity, cultural
| views forced many left-handed people to be right-handed,
| making those people miserable in the process for no good
| reason.
| alexey-salmin wrote:
| Being deaf is surely different from not being deaf but
| you can't objectively say it's a disadvantage. It's only
| a disadvantage in a world built for not deaf people, like
| being left-handed is a disadvantage in a world built for
| right-handed people.
| Veraticus wrote:
| I can and did say that. The world is easier for non-deaf
| people. I can't imagine even many deaf people would argue
| against that statement.
|
| The correct way to argue against this isn't to say that
| "objectively" the world is the same for deaf and non-deaf
| people; it's that there's a culture and language bound up
| in deafness that don't deserve to die thanks to medical
| advances. That is true, and makes treatments like these
| and what they mean to the deaf community much more
| complicated and difficult.
| alexey-salmin wrote:
| If dolphins could communicate with us they would surely
| tell how much easier it is when you have ultrasonic
| hearing. All humans are therefore disabled and in need of
| fixing.
|
| Or maybe not, if dolphins turn to be wiser than an
| average human.
| sweezyjeezy wrote:
| If all humans could echo-locate except a subset who
| couldn't, I would say that group is at a small
| disadvantage, yes, because the set of things the main
| group can do is 'objectively' greater. I don't know how
| relevant it would be for us especially in the daytime,
| but hey.
| alexey-salmin wrote:
| I agree. However, whether all kids should receive gene
| therapy to develop the echo-location once the science
| allows for that is a more nuanced question.
| geraldwhen wrote:
| If most buildings lacked light because the vast majority
| just echolocated, then the those unable would be
| disabled.
|
| It is okay for there to be a normal human experience, and
| define inability to participate as a disability.
| alexey-salmin wrote:
| > It is okay for there to be a normal human experience,
| and define inability to participate as a disability.
|
| That's what most people normally do, yes. Then many
| people out there define an "ability to enjoy hetero sex"
| as a "normal human experience" and therefore see gayness
| as a disability that needs a cure.
|
| I'm not arguing about the conclusion here, but about the
| method and the basis for deriving this conclusion.
|
| The initial comment in this thread declared deafness to
| be an "actual defect" while gayness "is just people being
| inherently gay". Such division is completely arbitrary
| and doesn't follow from any law of nature. Only from
| current societal views which change a lot with time.
| sweezyjeezy wrote:
| > doesn't follow from any law of nature
|
| Natural selection gave us hearing.
| alexey-salmin wrote:
| Right, and it also gave us a strong desire for the
| opposite sex. So if you draw the line based on this
| principle then gayness and deafness will fall on the same
| side of this line, whichever side it is.
|
| Hence I write that the initial comment making the
| distinction between gayness being obviously OK and
| deafness being obviously not OK, look arbitrary to me.
| This division is cultural.
| sweezyjeezy wrote:
| This feels a bit tenuous. What world do you envisage
| where it's a completely level playing field? Do we ban
| talking, music, sound in movies etc etc??
| alexey-salmin wrote:
| I think building a completely level playing field is a
| dangerous utopia. Essentially it's the same idea as
| fixing people to make them equal, just addressed from the
| opposite end.
| PierceJoy wrote:
| It's a disadvantage in the "built" world, but it's also a
| disadvantage in the natural world. If you drop a deaf
| person in the middle of the forest with no one around,
| they will not be able hear rivers for water, they will
| not be able to hear animals approaching, etc.
|
| Being deaf is objectively a disadvantage because 4 senses
| is objectively worse than 5 senses.
| alexey-salmin wrote:
| Most of vertebrates (including human's ancestors) lost
| the 6th sense of electric fields in process of the
| evolution. Apparently 6 is not always better than 5 from
| the nature's point of view. Moles went further to loose
| sight as well.
| PierceJoy wrote:
| > Most of vertebrates (including human's ancestors) lost
| the 6th sense of electric fields in process of the
| evolution.
|
| Human ancestors are not human. Also, the ancestor you are
| referring to was a fish, and could only sense electric
| fields under water. Why would the ability to sense
| electric fields under water be an evolutionary advantage
| for humans who don't live in water? If it's not an
| evolutionary advantage, then there is no reason it would
| propagate.
|
| When I said 5 senses are better than 4, I was clearly
| referring to senses that are useful in our environment.
| Answer this question: is a deaf person, all else equal,
| more likely or less likely to survive and procreate
| relative to a hearing person?
|
| > Moles went further to loose sight as well.
|
| Moles have eyes and can see. Their vision is just not as
| detailed as humans. Highly detailed sight isn't an
| advantage for creatures that live in the dark. However,
| hearing is a huge advantage for people who live in an
| environment where sound waves exist.
|
| You're clearly wrong here. Stop reaching so hard and just
| move on.
| alexey-salmin wrote:
| No, I'm not wrong, I just don't like relying on "obvious"
| statements like "5 senses are better than 4". We can't
| know for sure what was "better" until the human race
| experiment is finished (and then we won't know either
| obviously).
|
| Consider this: hereditary autoimmune diseases are usually
| seen as a disadvantage. However they were a huge
| advantage during the bubonic plague in Europe, increasing
| the chances of survival by estimated 40% [1]
|
| If we manage to eradicate these disadvantageous genes we
| may not survive the next pandemic. I don't have the
| knowledge to predict whether deafness genes or some other
| property entangled with them will be advantageous 10000
| years from now and neither do you. That's all. Now you
| can enjoy listening to music all you like, it's just
| beyond the point.
|
| [1] https://www.nih.gov/news-events/nih-research-
| matters/how-bla...
| PierceJoy wrote:
| Hereditary autoimmune diseases are not a sense, and are
| irrelevant to this discussion about whether hearing is an
| objective advantage or not.
|
| I'll ask again, since you must have missed this question:
| is a deaf person, all else equal, more likely or less
| likely to survive and procreate relative to a hearing
| person?
| alexey-salmin wrote:
| > I'll ask again, since you must have missed this
| question: is a deaf person, all else equal, more likely
| or less likely to survive and procreate relative to a
| hearing person?
|
| You know the answer: it can be both ways depending on
| circumstances.
|
| * In the prehistoric world I think he was less likely to
| survive. The difference doesn't seem to be dramatic
| though since these genes were not eradicated from the
| population.
|
| * In the modern world the difference is close to zero
| with an unknown sign. Given that in developed countries
| probability to procreate seem to be limited by a desire
| to procreate, I can't rule out that e.g. deaf people for
| some reason have 0.1% more desire to have kids, or any
| other side-effect. So answer to your question is unknown,
| requires a study to figure this out.
|
| * In the future hearing can be an advantage or a
| disadvantage depending on how the circumstances evolve.
| We see that species gain and loose senses depending on
| the environment.
|
| EDIT: I would also like to clarify this part:
|
| > Hereditary autoimmune diseases are not a sense, and are
| irrelevant to this discussion about whether hearing is an
| objective advantage or not.
|
| It's a human trait which was "obviously good" in the past
| and is "obviously bad" now. Hence I don't trust
| statements that other human traits like deafness are
| obviously good or bad. It's interesting to discuss but
| it's not granted.
| glenstein wrote:
| I don't think that's quite right, evolution makes trade
| offs and allocates scarce resources, it's not necessarily
| because such things would not be beneficial.
| alexey-salmin wrote:
| It's not clear what "beneficial" means if you consider it
| separately from the resources required to achieve it.
|
| E.g. it's beneficial to be stronger I guess, and gorillas
| are always strong whether they use their muscles or not.
| However for humans nature chose a different path where
| only the muscles you actively use are strong. This
| approach seem to work great so far, even though it
| results in many individual muscles of the body being
| weak. For each and every of these muscles you can argue
| that making it stronger would be "beneficial" but as a
| whole it doesn't seem to work out.
| RamblingCTO wrote:
| How do you hear predators approaching? It's an objective
| disadvantage.
| herbst wrote:
| Interestingly enough it was still common to train left
| handed kids in right handed writing up until maybe 40
| years ago as it was seen as some kind of defect
| obviously.
| rjh29 wrote:
| You can't procreate, that sounds like a pretty big
| difference in capacity?
| Drakim wrote:
| Gay people can obviously procreate, nothing about your
| body stops functioning when you are gay.
|
| What you mean is that they don't have sexual attraction
| towards people of an opposite gender, where if they had a
| relationship with them, that relationship would encourage
| procreation.
|
| To me that just doesn't seem like a "difference in
| capacity".
|
| I personally don't want children, and will probably seek
| out a partner who likewise does not want children. If I
| encounter somebody who wants lots of children, I will see
| that we have different life goals, and I probably won't
| be very keen on being in a relationship with them. Do you
| consider me "damaged" or of "diminished capacity" because
| of it?
| ben_w wrote:
| > "Objectively," left-handed versus right-handed changes
| nothing about a person's capabilities in the world,
|
| As a leftie, this is only true in the current world -- I
| live in a culture with a left-to-right writing system,
| and yet technology means I don't ever need to use a
| fountain or quill pen.
|
| I did have one teacher who insisted on "no biro" when I
| was a kid, but they were also my first introduction to
| "not everyone is actually nice".
| stahtops wrote:
| Let me help explain, some left handed people can hear and
| are not deaf. Objectively that is how deafness is not the
| same as being left-handed.
| alexey-salmin wrote:
| Well thank you, but the question is why one needs
| "fixing" and the other doesn't. Parent comment made an
| argument that being gay is like being left-handed so it
| doesn't need "fixing". That's fine with me, but I don't
| see how the same logic doesn't apply to deafness.
|
| Many deaf people enjoy their life as it is and don't
| welcome your attempts to "fix" them.
| stahtops wrote:
| I didn't attempt to "fix" anyone. Everyone has to do that
| themselves.
|
| What about the deaf people that don't enjoy their life as
| it is and do welcome the opportunity to hear?
| alexey-salmin wrote:
| > What about the deaf people that don't enjoy their life
| as it is and do welcome the opportunity to hear?
|
| I would be happy if they had such an opportunity.
|
| The question, once again, was different: should the
| hereditary deafness be eradicated in childhood by gene
| therapy once advances of medicine allow that?
| glenstein wrote:
| I think you changed the question and escalated the
| severity of the proposal so it became easier to knock
| down as a straw man.
|
| Originally this was about the desirability and capability
| of enabling deaf people to hear writ large. But now you
| are framing it as full scale eradication carried out in a
| way that bypasses consent.
| alexey-salmin wrote:
| I'm not, please read the whole discussion.
|
| The root of this thread referenced the cochlear implant
| which produces best results when implanted at a very
| young age (staring from 9 months) obviously without
| consent of the patient.
|
| Other author replied that:
|
| > The weird thing that we should not strive to fix human
| defects when they are truly defects is astounding.
|
| All my comments are essentially stating the disagreement
| (or rather lack of agreement) with this point of view.
|
| It declares being deaf as a "true defect" that we should
| "strive to fix". In the context of the gene therapy now
| available, I understand this means that a deaf-born
| children should be "fixed" to remove this "defect". This
| vision is not crazy, but it doesn't strike me as
| universally true either.
| glenstein wrote:
| I read it multiple times and the unresponsiveness of this
| comment serves to further confirm my assessment, that you
| were unique in introducing the notion of full-scale
| eradication without qualification into this conversation.
| The participant you quoted noted a preferability, but you
| engaged in an original creative act in equating this to
| eradication.
| magicalhippo wrote:
| > The question, once again, was different: should the
| hereditary deafness be eradicated in childhood by gene
| therapy once advances of medicine allow that?
|
| Sure, because it's reversible. If they don't like hearing
| they can always become deaf again.
| geraldwhen wrote:
| If you feel compelled to remove parts of your body and
| take opposite sex hormones for life, that's clearly a
| disability.
|
| If genes could fix your brain to not feel compelled to
| swap sexes, that would be a huge win in the quality of
| life for most individuals.
|
| You can pretend that pretty much anything "isn't a
| disability, it's just different." But that isn't true.
| seattle_spring wrote:
| You're focusing pretty hard on a single letter of that
| acronym that makes up a small percentage of the overall
| community.
| ugh123 wrote:
| That would be a terrible reason to give up, or slow down, on
| research in any area of health science.
| 911e wrote:
| How likely to cure tinnitus ?
| tux3 wrote:
| Zero chance, unfortunately. The cause of tinnitus is not with
| the OTOF gene.
|
| The best case scenario is that this wouldn't do anything.
| ck_one wrote:
| There is also active development for tinnitus/noise induced
| hearing loss. Dr Chen from Harvard is working on it. He was
| also involved in the research linked in the article. They are
| getting closer to a cure. Here is an interview with him:
| https://www.youtube.com/watch?v=lJr86MUYJ8M
| carterschonwald wrote:
| This is the sort of stuff I conceptualize as a true
| tech(nical/nology)startup. I realize that's in some ways at odds
| with the meaning in practice. But this is amazing technology.
| GOD_Over_Djinn wrote:
| Discoveries like this should be shared with the world - not
| gatekept by rent-seeking venture capitalists. Wouldn't you
| rather be Jonas Salk than Scrooge McDuck?
|
| https://en.wikipedia.org/wiki/Jonas_Salk
|
| > Salk was immediately hailed as a "miracle worker" when the
| vaccine's success was first made public in April 1955, and
| chose to not patent the vaccine or seek any profit from it in
| order to maximize its global distribution
| chris_t wrote:
| Rent-seeking has a technical definition; earning money from
| things you invented does not meet it. While Salk is obviously
| an inspiring example, a wise society should happily
| incentivize the development of useful technology.
| carterschonwald wrote:
| Well said
| sooheon wrote:
| Intellectual monopolies disincentivize development and
| incentivize rent seeking. Here, rent seeking is legal
| action and lobbying intended to protect and extend
| monopolies, instead of advancing science.
|
| Other than economic logic, we have natural experiments to
| back this up: i.e. the steam engine patent granted to Watt
| and Boulton in 1772 and its chilling effect on engine duty
| improvement (and the explosion of progress after patent
| expiry), and the modern pharmaceutical industry developing
| most strongly precisely where chemical patents were not
| granted, in 19th C. continental Europe, and slowing down
| wherever patent protections were eventually introduced, at
| the request of rent seeking lobbyists.
|
| https://fee.org/articles/do-patents-encourage-or-hinder-
| inno...
|
| http://www.dklevine.com/papers/anew09.pdf
| chris_t wrote:
| I agree with all of this. The example of the patent on
| steam engines is fascinating, thank you! It's certainly
| true government granted monopolies are far from the ideal
| incentive structure, with many downsides. (And lobbying
| for EG patent extensions likely IS rent-seeking). Advance
| market commitments and other systems likely have better
| characteristics.
|
| I was rather objecting to the misuse of a technical term,
| and the idea that we should expect all innovation to
| happen without reasonable incentives.
| arjie wrote:
| Through a mutual acquaintance, I met someone who did a little
| work for on the OTOF gene therapy and it really is remarkable
| stuff.
|
| My wife and I had our embryos screened by Orchid Health since we
| have a related genetic condition: a pathogenic mutation in GJB-2.
| Amazingly, Decibel Therapeutics has has one of these in R&D and
| the OTOF success gives us hope. We have a few embryos that are
| affected and the more that can grow up healthy the more chances
| we'll have at children.
|
| The technology itself is unbelievably futuristic: involving using
| a virus to deliver a repaired gene into existing cells.
|
| This form of non-syndromic hearing loss may well be repaired two
| generations from now. An interesting thing is if you follow along
| with the literature, some Chinese labs report success with these
| gene therapies in kids on the cusp of teen age. That's
| remarkable. It will give a lot of people today the chance to have
| healthy kids in the future even if they were unfortunate enough
| to carry the genes today.
|
| Personally, the fact that I can practically hold a whole genome
| sequence of our embryos on my computer means the future is here.
| Last time, I posted a few links for everyone interested in the
| subject https://news.ycombinator.com/item?id=40312242
| SJC_Hacker wrote:
| Screening can also "repair" inherited deafness through
| selection - you simply don't produce offspring to those that
| have the defect.
| nehagup wrote:
| When I try and imagine what that must be like from the inside--I
| can't think of anything more exciting or scary than to gain a new
| sense.
| herbst wrote:
| There are magnet Implantats you can put into your finger which
| lets you feel magnetic fields.
| meindnoch wrote:
| That's not a new sense, just using the existing tactile
| system with a magnet.
| iandanforth wrote:
| Senses are defined by what they sense, not how they are
| sensed. A person can have their sight partially restored
| through implants that bypass rod/cone activation.
| https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6934168/
| knodi123 wrote:
| you'd be surprised.
|
| I've heard about people experimenting by wearing a belt
| with dozens of haptic motors and a compass, so that it
| always indicates the direction of north. After a while
| wearing it, they stop consciously feeling the sensation of
| the vibration, and just feel "northness". And then when
| they take off the belt, they feel weirdly disoriented for a
| while, even in familiar places.
| LadyCailin wrote:
| There is a belt you can wear that has vibrators around it, and
| it always vibrates the north facing side. I read that people
| who wore that for a few weeks started gaining the ability to
| create much more accurate maps in their head, which makes
| sense, this is how pigeons do it too, they basically can just
| always sense where north is.
| nehagup wrote:
| If I'm interpreting the article correctly, it seems like the
| amount of hearing recovered is pretty good. I was wondering how
| much hearing was actually restored.
| 29athrowaway wrote:
| The genetic corrections are not inherited, right?
| zac256 wrote:
| It's considered taboo/forbidden for genetic corrections to
| target the germline. I think that's an unfortunate
| misapplication of ethics, presumably due to fears about
| eugenics.
| BurningFrog wrote:
| It's taboo in Western medicine.
|
| I doubt the whole world will respect that.
| djur wrote:
| My understanding is that it's more about mitigating risk than
| avoiding an association with eugenics. If the gene therapy
| has unforeseen consequences the harm is multiplied with every
| generation and is harder to address once found.
| myrloc wrote:
| How can I get involved in this work as a software engineer?
| rjh29 wrote:
| If you can't find out yourself then you're probably not
| motivated enough.
| myrloc wrote:
| Does asking the HN community not fall into the category of
| "finding out"?
| bedobi wrote:
| What an uncharitable thing to say
| MrDresden wrote:
| Having worked at a large world renowned genetics laboratory as
| an SWE I believe I can say that it is unlikely you will have
| the option of having any direct input into this kind of work,
| in that role.
|
| That being said, there is a lot of things an SWE can do in a
| support role.
|
| Some of the things I did were data processing pipelines (both
| automatic and human centric UI for phenotype gathering) and
| interconnected networks of scientific instruments, as well as
| some deployments of R and Python code.
|
| Sure, your name wont show up along with hundreds of others in
| the Nature publications, but you will know that you contributed
| to the overall success. And it does feel good.
| jdthedisciple wrote:
| > Two of the children even gained an ability to appreciate music.
|
| Interesting: Does this mean that the other 3 children are still
| kind of indifferent to Music and presumably other kinds of
| sounds?
| meindnoch wrote:
| There's a certain age beyond which you cannot learn proper
| speech. There's a certain age beyond which you cannot learn
| absolute pitch.
|
| It wouldn't be surprising if there was a certain age beyond
| which you cannot learn to understand music.
| CaptainOfCoit wrote:
| > There's a certain age beyond which you cannot learn
| absolute pitch
|
| I can understand things like that get harder and harder as
| you become adult. That it's absolutely not possible beyond a
| certain age I think is just a commonly held belief that
| doesn't hold up to scrutiny.
|
| What is this age limit where you've never seen anyone be able
| to gain that skill? I'm sure there are counter-examples.
| rylittle wrote:
| Interestingly enough, I once read that no one over the age
| of 60 has ever _retained_ perfect pitch
| deepGem wrote:
| "The children involved in the study were born with DFNB9, which
| accounts for between 2 and 8% of hereditary deafness. It is
| caused by mutations in the OTOF gene which prevent the production
| of functioning otoferlin protein, which can significantly reduce
| sound transmission from the inner ear hair cells to hearing
| nerves."
|
| Just shows how much of our body functions we take for granted.
| Every function has a critical path that is so vulnerable. This is
| despite the human body having all kinds of redundancies. Our body
| is so resilient, yet at times, some of the mechanisms are so
| fragile.
| herodoturtle wrote:
| Poignant observation (that we take so much of our bodily
| function for granted), thank you for adding this to the
| commentary on this page.
|
| And that resilience-with-fragility you speak of instantly
| reminded me of our giant cloud clusters, with their tiny points
| of failure that test the limits of redundancy.
| belter wrote:
| "Aissam, the boy who escaped from a world of silence thanks to
| gene therapy": https://english.elpais.com/science-
| tech/2024-06-05/aissam-th...
| BurningFrog wrote:
| Language nit:
|
| You can't "restore" hearing to those who never had it.
| ADeerAppeared wrote:
| That's not just a nit.
|
| The idea that these are people who are "broken" and need to be
| "fixed" is something a lot of Deaf people are very opposed to.
| CaptainOfCoit wrote:
| > The idea that these are people who are "broken" and need to
| be "fixed" is something a lot of Deaf people are very opposed
| to.
|
| Are they maybe "opposed" to been seen like that because there
| was no hope for any solutions besides just being OK with it?
|
| In the future when it's more accessible and cheaper,
| shouldn't being born without hearing be considered a "fault"
| of sorts, as you can now introduce this sense to them, like
| most others being born with hearing at birth?
| very_good_man wrote:
| All of us have to get real and demand immediate speed-up of LLMs,
| Gene Therapy, etc. Absolutely nothing else matters.
| arnaudsm wrote:
| Millions of people already die of curable diseases. Technology
| isn't enough, many problems are political
| bn-l wrote:
| Fully agree. Both have the potential to solve whole groups of
| problems. Gene therapy especially should be species goal as
| something to get us to the next stage of evolution.
| bluerooibos wrote:
| Politics could do with an injection of LLM action. Climate
| change is arguably the most urgent issue.
| throwaway48476 wrote:
| Genetic issues are more prevalent in communities that practice
| inbreeding. Eliminating inbreeding seems to be an easier fix than
| genetic therapy.
| nobodyandproud wrote:
| Tangent, but this reminds me of
| http://news.bbc.co.uk/2/hi/health/1916462.stm
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