[HN Gopher] Gene therapy restored hearing in deaf patients
___________________________________________________________________
Gene therapy restored hearing in deaf patients
Author : justacrow
Score : 267 points
Date : 2025-07-02 15:03 UTC (7 hours ago)
(HTM) web link (news.ki.se)
(TXT) w3m dump (news.ki.se)
| vonnik wrote:
| adjacent, same trend: https://news.ufl.edu/2024/09/blindness-
| gene-therapy/
| agumonkey wrote:
| somehow it seems the singularity is here .. i hope it's well
| distributed
| d0100 wrote:
| Anyone from the deaf community that can tell us how these kind of
| news are received?
|
| I wonder how this compares to animosity towards coclear implants
| by a subsection of the community
| guerrilla wrote:
| That was my first thought too. I wonder how many people would
| choose to stay deaf just to stay in the community.
| retrac wrote:
| Controversial in the same way cochlear implants are.
|
| Many deaf/Deaf parents want children who hear. And I think
| absent the cultural consideration, almost all would want
| children who hear.
|
| But you can't ignore the cultural consideration. If you are
| deaf, and have a deaf child, curing that child's deafness means
| they will move away from you later in life. It's a kind of
| alienation even when the child remains bicultural, they usually
| end up almost entirely in the hearing world.
|
| That said, most deaf people who have children have hearing
| children anyway. Hereditary deafness like that is relatively
| rare like that.
|
| But for people from such families, and who live in a culturally
| deaf world -- they are not disabled. The cultural environment
| they live in is ... one in which deafness is not disabling. And
| it's going to be a very high hill to climb to convince them
| that they are missing something. They certainly don't feel it.
| This is particularly true in the United States which has such a
| proud tradition of deaf culture and education -- you can go all
| the way to doctorate level studies in ASL, work in ASL, the
| hearing world being a strange foreign culture you only rarely
| wade into -- only rarely _need_ to.
|
| I'd cure it for myself, and my child if I had one. No question.
| But I'm not culturally deaf. I feel isolated by it in the same
| way most hearing people anticipate deafness to be as an
| experience. But again -- people who live in the deaf cultural
| world -- they do not feel that, and they don't feel disabled
| because, in their context, they aren't. It's hard to
| communicate this to most hearing people. The usual response is
| dismissive, and unfortunately I think a lot of that ultimately
| goes back to very old metaphysical attitudes towards language
| and intelligence. A lot of hearing people still don't believe,
| deep down, that sign languages are equivalent to spoken
| languages, in particular. It's just gesture. You're lacking
| something essential to the human condition without spoken
| language. Etc. But for the culturally deaf, nothing is missing
| from their lives, except the perception of sound.
| bigstrat2003 wrote:
| There are few things that make me angrier than trying to hold
| back cures for deafness because of "cultural erasure" or
| whatever the phrasing is. It is utterly reprehensible. To try
| to keep someone disabled (yes - disabled, not "differently
| abled", they are objectively lacking a capability that a
| healthy human has) just so that there are more people in your
| community is objectively evil in my book. It is directly
| doing harm to people for one's own benefit.
|
| If a person wishes to not get a certain treatment - fine,
| that's their right. But when one starts trying to keep others
| down, that's _not ok_.
| retrac wrote:
| I said "not disabling", not that deafness is not a
| disability.
|
| Those two things mean different things to me. Obviously
| deaf people cannot hear. Not able. Dis-able. Deafness is a
| disability.
|
| But not all disabilities are generally disabling of
| individuals. The only disability that deafness causes is a
| lack of perception of sound.
|
| Hearing people have a panoply of inferences about what that
| means -- about how it disables and how broadly it disables.
| And most of them are faulty. It doesn't result in
| isolation, in particular, in a deaf cultural context. In
| fact in the deaf cultural context about the only thing
| missing is some auditory alerts that would be nice as a
| visual complement, and some aspects of music and the like.
| Yes. Birds chirping is beautiful. I miss it deeply. It'd be
| nice to have a world where every kid gets to experience
| that.
|
| But all of the social and emotional and cognitive
| consequences imagined of deafness, are not innate to the
| lack of hearing.
| MintPaw wrote:
| I'm empathetic to this argument, but there needs to be
| some kind of differentiation between preserving culture
| and abuse for the sake of community. I can imagine the
| same argument applying to a cult with cruel traditions,
| or hazing in general.
| smaudet wrote:
| It's more than that (not deaf either) - if suddenly there
| is a new therapy to grow a third eye in the back of your
| head, should you?
|
| Or should a fish be able to breathe without water?
|
| In both cases there are ways to function without
| fundamentally altering the body, and neither is wrong.
|
| It is not so clear that there is "abuse", when there is
| an empathetic standard of living.
|
| Now to me, the best argument for taking this is that deaf
| people do have ears, whether or not they function. So it
| is reasonable for them to experience sound, but also,
| they have a right not to, if they so choose.
|
| What I think is harder, if you have experienced neither,
| to be able to make that decision well. And nobody is
| talking yet about reversing such a therapy...
| guerrilla wrote:
| Abuse by who? It's themselves who are against adopting
| it. It's just autonomy at work.
| og_kalu wrote:
| Parents and children ?
|
| Sure Adults opting out of such treatments on such grounds
| is fine. Parents doing so to their children, not so much.
|
| I mean you can't exactly go, "We'll wait for them to be
| old enough to make the decision for themselves" for
| hearing.
| UltraSane wrote:
| Abuse of deaf children. Being able to cure deafness in a
| child and not doing so isn't much worse than
| intentionally making the child deaf.
| squigz wrote:
| I'm not deaf, so I don't know about the lived experiences
| of people who are. But I am extremely visually impaired,
| and if someone said something along these lines about
| being blind, I'd be... annoyed. Thankfully, people don't
| often say things they would about being deaf, about being
| blind, which I've always found a bit odd.
|
| Perhaps I'm misunderstanding, but are you basically
| saying that there's no real negative aspects inherent to
| being deaf, outside of those imposed by society?
| BeetleB wrote:
| > Perhaps I'm misunderstanding, but are you basically
| saying that there's no real negative aspects inherent to
| being deaf, outside of those imposed by society?
|
| This is a valid question. My gripe is people aren't
| asking the obvious _other_ questions:
|
| 1. What are the positive aspects of deafness?
|
| 2. What are the _different_ aspects of deafness (neither
| positive nor negative, but leads to a very different
| human experience).
|
| If either of these significantly outnumber the negative
| aspects, I can see why imposing a treatment on children
| without the parent's consent is problematic.
| squigz wrote:
| > 1. What are the positive aspects of deafness?
|
| I think a more appropriate question would be, what are
| some positive aspects of being deaf, _that are unique to
| being deaf_? As you point out a few times, a positive
| aspect of being deaf, and the main reason it 's 'not
| disabling', is because there is a community around it.
| But that is not inherent to being deaf, since non-deaf
| people also have communities; indeed, those same deaf
| communities could exist as they are even if their members
| were cured
|
| > 2. What are the different aspects of deafness (neither
| positive nor negative, but leads to a very different
| human experience).
|
| Can you elaborate on some of these?
|
| > If either of these significantly outnumber the negative
| aspects
|
| Also, I surely hope this isn't a simple matter of
| numbers, right? I mean, surely one has to weigh the
| severity of the negative aspects in this. "Not being able
| to hear" is but one negative aspect, but it's a pretty
| big one.
| smaudet wrote:
| Perhaps one advantage that even deaf people might not
| appreciate - being at "peace".
|
| There are many who can hear who crave little or no sound.
| Being unable to hear is a (semi?) permanent mute button.
| No noise, just your thoughts and whatever you can see.
|
| The biggest downside to being deaf? Missing out on
| omnidirectional communication. Whether that be hearing
| the telltale sounds of a critter in the bush, or
| conversing with someone without sight, that would be the
| major disadvantage.
|
| That being said, it isn't perhaps as big an issue as one
| might imagine - bear attacks don't happen only to deaf
| people, plenty of people get hit by buses they could have
| heard, and often nobody listens to the intercom anyways
| (sometimes it is inaudible over general noise).
|
| The next biggest, probably music. But again, a lot of
| music is objectively bad (stressed loud notes that are
| designed to attract attention versus complex or
| thoughtful melodies), when you reduce many vapid pop
| songs to their linguistic components, you might suddenly
| find you aren't missing out on much...
|
| I can hear, and I appreciate the convenience. However I
| also struggle to find auditory peace without jamming my
| ears with plugs, and I appreciate the calm and quiet...
| I'm not sure my quality of life is that much better as a
| result of being able to hear.
| smaudet wrote:
| Being able to see was more evolutionary pertinent to us.
| Same with smell...
|
| Animals that can hear extremely well (owls for instance)
| rely on this trait to be able to survive.
|
| It's always been more important to us to be able to see
| versus hear things, we evolved our large brains to take
| advantage of symbols and information. You can hear a
| symbol but it requires relatively a lot of energy to
| relay that over any long distance. In contrast, a smoke
| signal is visible for many many miles.
|
| Things that are seen tend to be more durable, too. A
| scream lasts for only an instant, but the signs of a
| scuffle may last for days or weeks. A carving in stone
| can last for hundreds of years... and many of the things
| we eat can be seen but not heard (well).
|
| So it is a far bigger deal to us to be blind than to lack
| any of the other senses.
| BeetleB wrote:
| Sorry, but they are differently abled. Their brains and
| perceptions are different from people who can hear. You are
| assuming that those differences are all negatives. They do
| not believe that to be the case.
|
| Many people here self-diagnose as Asperger's. Can you not
| see why they would not want a "cure"?
|
| Being an extrovert objectively gives you great advantages
| in (most) societies. As an introverted parent, I would
| definitely fight any "cure" for my introverted children.
|
| Furthermore, if both parents are deaf and the kid is not
| deaf, there's a good chance that in the first so many years
| of life, the kid will have poorer mental development than
| the deaf kid. Not quite the same, but an example: Deaf kids
| born to deaf parents hit the same language milestones as
| hearing kids born to hearing parents. But deaf kids born to
| hearing parents do worse, because the parents don't know
| the appropriate way of thinking/communicating.
|
| Related: Deaf kids who were given cochlear implants, but no
| sign language training fared a lot worse than both hearing
| kids and deaf kids who learned sign language.
| crooked-v wrote:
| As someone who's on the autism spectrum, I think there's
| an immense qualitative and quantitative difference
| between someone's brain working differently and the
| straightforward presence or lack of a specific physical
| capability.
|
| I'd still be cautious because there's the long-running
| tendency for any kind of 'cure' for anything inheritable
| to be used as a eugenics bludgeon, but that's about
| society rather than the direct effects.
| BeetleB wrote:
| > I think there's an immense qualitative and quantitative
| difference between someone's brain working differently
| and the straightforward presence or lack of a specific
| physical capability.
|
| In this case, the lack of a specific physical ability
| results in that person's brain working differently.
| kortilla wrote:
| Not really. The brain compensates in communication skills
| since it has no auditory processing to deal with.
|
| But it's otherwise normal. They don't magically become
| extremely technical or have other specific positive
| traits that come from being deaf.
| pie_flavor wrote:
| Lacking a sense that someone else has is
| straightforwardly negative. If being able to hear isn't
| better than not being able to hear, then nothing at all
| can be said to be better than anything else. Whether
| Asperger's is different is irrelevant.
| TRiG_Ireland wrote:
| There are few things that make me angrier than people who
| have very strong opinions on subjects they have only just
| become aware of.
| khazhoux wrote:
| Where do you see in the parent comment that they've "only
| just become aware of" this issue?
| nashashmi wrote:
| Do people and society with intentional lack of computers
| make you angry as well because those people see benefits
| for their culture not to have one? I think you believe
| being disabled is a really bad situation but they believe
| it is a heightening of other senses, and that is something
| you cannot relate to.
| rfrey wrote:
| This is a super interesting comment, thank you. I am
| certainly guilty of believing the deaf experience is inferior
| to the hearing experience - but not because I think ASL is
| lesser than spoken languages or deficient as a communication
| channel. It's because deaf people don't hear music. I know
| people can dance to the beat and often distinguish songs by
| vibration patterns, but that is surely not equivalent to the
| emotional and intellectual experience most people can have
| listening to music.
|
| Less important but similar: birdsong, the sound of crashing
| waves, children laughing in a playground. Hearing brings us
| much besides transfer of information.
|
| On the other hand, from my brief number of ASL lessons (about
| a years worth taken as an adult in my mid 20s) the facial
| expressiveness inherent to ASL gives it something hearing
| people don't get in normal conversation. But to me that's a
| pretty small benefit compared to the things a deaf person is
| missing.
|
| I'd respect anybody who chose not to get treated for
| themselves, but I think I'd be pretty judgy pretty quickly
| for anybody who tried to deny or dissuade anybody else from
| becoming hearing, including their children.
| pcthrowaway wrote:
| > But again -- people who live in the deaf cultural world --
| they do not feel that, and they don't feel disabled because,
| in their context, they aren't
|
| I can respect resisting pressure to be part of the hearing
| world, but there are certainly ways in which deafness impacts
| one's safety and opportunities. Not being able to hear
| sirens, or oncoming trucks, or cars honking their horns, or
| cyclists saying "on your left", or fire alarms makes the
| world less safe for you (and for others who may have the
| expectation you can hear them)
|
| I'm certainly not saying this to suggest people should be
| _forced_ to join the world of the hearing if given the
| option, but I _do_ think doing so would be the responsible
| option, if it 's a readily available one.
|
| Kind of like I don't expect people to learn other languages
| than their native tongue, even when it's a language spoken by
| the majority in their place of residence. But if you don't
| speak the language spoken by the majority, and are presented
| with the opportunity to instantly learn it (like "I know Kung
| Fu"-Matrix style), I certainly think it would be more
| responsible to do so.
| zie wrote:
| > I can respect resisting pressure to be part of the
| hearing world, but there are certainly ways in which
| deafness impacts one's safety and opportunities.
|
| I agree, but that's not a result of me being deaf, it's a
| result of the hearing world just blindly assuming everyone
| can hear these things. People screw up hearing sirens or
| "on your left" or whatever ALL the time, even if they are
| hearing (distracted, headphones, etc).
|
| If we took away the assumption that everyone can hear
| everything all the time, it would help everyone, not just
| people who are deaf.
|
| For instance, studies show that subtitles/captions being
| always on helps retention of the information you just
| watched[0]. Yet subtitles/captions not even being included
| is still the default for many types of media. When captions
| are included, often times they are wrong, either subtly or
| grossly. Even in education settings where one would think
| people want the information retained pretty much never ever
| bother to include or turn on captions. Despite decades of
| studies saying captions help a lot.
|
| Go to your local home improvement store and try to buy a
| battery powered smoke/fire alarm that will work for deaf
| people. I'm betting despite lots of options the chances are
| basically 0 for finding one(yet they do exist in the
| world). Finding one that works with wired 110V is a little
| above zero. What if it was the other way around instead,
| and it was hard/impossible to find a fire/smoke alarm that
| didn't work for deaf/HoH people?
|
| 0: UW-Madison did a comprehensive overview[0] of over 100
| empirical studies in 2015 showing that captions are useful
| for everyone, not just deaf/hard of hearing people. "The
| empirical evidence is clear: Captions, also known as same-
| language subtitles, benefit everyone who watches videos."
| They recommended just always showing captions.
|
| source:
| https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5214590/
| perryprog wrote:
| > Not being able to hear sirens, or oncoming trucks, or
| cars honking their horns, or cyclists saying "on your
| left".
|
| For what it's worth, it's generally thought that deaf
| drivers are safer drivers. See
| https://www.handspeak.com/learn/280/.
|
| > fire alarms
|
| ADA requires fire alarms to include visual alarms (as in
| flashing strobes) for this reason.
| magicalhippo wrote:
| > culturally deaf world
|
| What's this defined as? Keeping away from all non-deaf
| people?
| retrac wrote:
| That happens naturally, due to the language barrier. I'd
| suggest a definition of "culturally deaf" as having sign
| language as your native language.
| UltraSane wrote:
| The culture unique to native ASL users.
| UltraSane wrote:
| I truly sympathize with deaf people not feeling disabled due
| to how well modern US culture has adapted to their needs but
| hearing is essentially a superpower compared to total
| deafness.
| vasusen wrote:
| I am not from the deaf community, but my son has severe hearing
| loss. I really look forward to a world where condition like his
| simply becomes fixable like bad teeth and he doesn't have to
| miss out on so many things.
| ezfe wrote:
| I have severe hearing loss and that animosity is so stupid.
|
| My handicap is handled very well by my hearing aids and
| everyone should have that opportunity.
| zie wrote:
| It's a double edged sword, because it shrinks the already small
| deaf/HoH population and we can't yet eradicate hearing like we
| can smallpox(completed), polio(mostly gone), etc.
|
| It's awesome that it works for some people, just like CI's work
| for some people(but not all).
|
| Until we can restore hearing(or insert favourite disability
| here), to everyone, it's going to be controversial inside of
| those communities, because it makes our already smaller world,
| smaller. Which causes lots of emotions as you can imagine.
|
| That doesn't mean our world has to be smaller, even now. There
| are lots of things we can do to make deaf people's worlds
| bigger(and again, insert any other disability here). We choose
| not to do them because some people think they are hard, some
| people think they are expensive and some people think it's not
| needed.
|
| Perhaps some of that is true, for some items on the massive
| list.
|
| "Blindness separates people from things; deafness separates
| people from people." - Helen Keller
|
| Deafness doesn't _have_ to separate people from people, but it
| does.
|
| Until we can eradicate XXX disability completely(unlikely) we
| should as a society strive to make their worlds bigger, not
| smaller. Sadly so many people don't feel that way, for various
| reasons.
| jonathanlb wrote:
| This is great news. Hopefully this will be expanded to other
| forms deafness like those caused by ototoxic medication, ear
| infections, and general sensorineural hearing loss.
| im3w1l wrote:
| This particular study looks like it's dealing with a pretty
| narrow condition and solution (protein missing - add gene for
| protein). I don't think this particular research can be
| extended the way you hope.
| jonathanlb wrote:
| I agree. The causes of deafness I mentioned are diverse and
| fall outside the specific focus of this current study.
| Ideally, future research will address deafness caused by
| these and other other factors.
| janeerie wrote:
| Yes, I would really like to see research targeting Connexin
| 26, since it's the most common cause of hearing loss, but it
| seems it's much more difficult to "cure."
| smath wrote:
| Regeneron had announced positive results in its gene therapy drug
| for deafness in Feb 2025: https://investor.regeneron.com/news-
| releases/news-release-de...
| thomassmith65 wrote:
| It's good that the article title doesn't use "congenital
| deafness", but it would be even better if it were simply
| "Deafness Cured!" /s
| max_ wrote:
| I see alot of advances powered by genetics now days.
|
| Is there a specific field in genetics pushing this?
|
| I used to hear buzz about CRISPER/CAS9 is it what is underlying
| most of these advancements?
|
| How come alot of gene editing stocks have taken a serious beating
| if the tech is so good.
|
| Many, many gene editing stocks have lost more than 90% of thier
| value since IPO.
| searine wrote:
| The tech behind this is not new or difficult. The issues are
| related to safety and regulation. Early efforts in gene therapy
| had disastrous results and current treatments are not trying to
| repeat past mistakes.
|
| There is tremendous potential for gene therapy to cure disease,
| however it needs (and so far has had) strict regulation,
| particularly if the changes can be inherited.
| beambot wrote:
| > Early efforts in gene therapy had disastrous results
|
| Can you share examples...? Just curious as an outsider
| looking in.
| ortusdux wrote:
| https://pharmaceutical-journal.com/article/feature/gene-
| ther...
|
| "The most notable obstacle faced in the gene therapy field
| was that of Gelsinger in 1999, who is understood to have
| died after his body overreacted to the adenovirus vector.
| Gelsinger had a rare disorder in which the liver lacks a
| functional copy of the ornithine transcarbamylase (OTC)
| gene and, consequently, the body is unable to eliminate
| ammonia, a toxic breakdown product of protein metabolism."
|
| "A gene therapy for children with severe combined
| immunodeficiency (SCID) was delivered [to two independent
| groups in London and Paris] and was incredibly successful,"
| explains Griesenbach. "But, [in 2008; between three and six
| years later], a small proportion of children [in Paris]
| developed leukaemia induced by the vector, which had
| inserted itself into a gene that controls cell division [4]
| ."
| S4H wrote:
| How challenging is it for a person who has been deaf for let's
| say 20 years to suddenly regain hearing?
| jallmann wrote:
| I can't say anything about the specifics of this treatment, but
| in terms of their ability to fully benefit from hearing, it
| would depend on when they became deaf, and the severity of
| their deafness.
|
| If they were born deaf, or lost hearing as a young child during
| the language development stage, then it would probably be a
| long adjustment. Things would just be noise and it would take a
| lot of training to distinguish sounds, speech, etc. And unlike
| a cochlear implant, you couldn't just take it off to give your
| brain a rest.
|
| If they had hearing loss later in life, or some residual
| hearing, then they probably have a better chance of re-
| adjusting to hearing.
| squigz wrote:
| You know, whenever treatment for autism comes up, we get a lot of
| comments heavily suggesting curing autism is basically eugenics.
|
| Why is it that some things are seen as a disability we should try
| to fix in our children, and others - which are in many ways just
| as debilitating - seen as some kind of beautiful part of
| humanity?
| joefourier wrote:
| Autism is a spectrum disorder and I don't think it should be
| controversial to cure low functioning autism. However, high
| functioning autists can be argued to be more of a personality
| variant than a disability, with different strengths and
| weaknesses compared to neurotypical people. Society benefits
| greatly from supporting high functioning autistic people in
| say, technical fields where hyperfocus, narrow obsessions and
| systemising thinking are an advantage.
|
| Meanwhile, having a genetic condition like haemophilia doesn't
| give you any conceivable advantage.
| squigz wrote:
| > Society benefits greatly from supporting high functioning
| autistic people in say, technical fields where hyperfocus,
| narrow obsessions and systemising thinking are an advantage.
|
| At the expense of those people having to live with all the
| unmentioned negative aspects of autism.
|
| (To say nothing of whether those are actually positives or
| not. Personally, I don't see how hyperfixating on something
| for a few weeks at a time at the expense of all my other
| responsibilities is a superpower, but hey)
| iteria wrote:
| I don't even think there should be a conversation around high
| functioning autistics. My kid suffers from autistic
| catatonia. She's also extremely high functioning. I'm sorry,
| there is no world where I'm going to say no thanks to a cure
| for my daughter's body suddenly locking into place for an
| unknown period of time or losing the ability to speak or
| function randomly or hell just understand human expression
| without intense intervention. We can argue about their
| special brain powers or whatever, but all I'm seeing is that
| high functioning autistic have a much higher rate of self-
| harm and suicide. It can't be that great.
| guerrilla wrote:
| > Meanwhile, having a genetic condition like haemophilia
| doesn't give you any conceivable advantage.
|
| Sickle-cell anemia does though. I wonder if some day there
| _could_ be a survival advantage for haemophilia. What if we
| erase the genetic code that ends up saving us from some alien
| virus, you know?
|
| I'm not saying this is a good argument, just something
| interesting to think about.
| jhaddow wrote:
| How would one find out if they have this type of hearing loss? I
| have moderate to severe hearing loss in both ears since birth and
| there's never been an attempt that I'm aware of to diagnose the
| cause beyond a standard inner ear examination.
| apt-apt-apt-apt wrote:
| Asking your ear doctor seems like a good idea for this, rather
| than random people on HN..
| jhaddow wrote:
| Do you want to be my ENT?
| codytruscott wrote:
| Whole Genome Sequencing is affordable now. I'd suggest a 20x
| hifi long read from broad clinical labs for $1200 or so. Use
| opencravet to dig into the results. They just posted a webinar
| for personal analysis https://wse.zoom.us/webinar/register/WN_-
| VvYJ8FKRcGaKCQtLFrU...
|
| Franklin by genoox is a slicker and possibly more approachable
| product depending on your interface preferences.
|
| Genetic research -- due to the number and subtly of variants --
| is ripe for citizen science in my opinion.
| gavinray wrote:
| As a follow-on to this:
|
| If you have partial genome data from 23andMe, Ancestry, etc,
| you can use what's called "genomic imputation" to do a sort
| of probabilistic gap-filling in your genome.
|
| It's a bit tricky to do yourself, but there are paid services
| that will run the imputation for you and share the results.
|
| I paid $15 for mine at https://dnagenics.com
|
| ---
|
| @codytruscott I signed up for that webinar, I hadn't heard of
| this tool before, thanks!
|
| Got any other useful links/tools to share by chance?
| codytruscott wrote:
| Rather than 23andMe, Ancestry ($50-$100) etc => imputation,
| broad clinical labs offers exome + genome blended for $120.
|
| https://usegalaxy.org is pretty remarkable and provides
| access to a ton of open source bioinformatics tools +
| compute to process the files.
|
| I really think the $1200 20x pacbio from broad is worth it
| if you are going to make it serious hobby.
| beaugunderson wrote:
| the site i maintain is a bit out of date, but i accept PRs if
| you have time to add the broad clinical labs data!
|
| https://whichgenome.com/
| invalidOrTaken wrote:
| asking chatgpt, it seems like the filters are
|
| 1) symptomatic ("OTOF-related hearing loss is usually
| prelingual, severe-to-profound, and non-progressive.")
|
| 2) family history (the gene mutation in question is not sex-
| linked andd must come from _both_ parents, though either /both
| could just be recessive carriers of the gene)
|
| 3) genetic testing at a lab
| coolKid721 wrote:
| okay can we cure tinnitus please
| froggertoaster wrote:
| What immediately sprung to mind is how the deaf community has
| seen things like this as a personal and existential threat.
|
| To me it's an obvious disability, and deaf people SHOULD want to
| be cured, but tribalism wins that argument all too often.
| UltraSane wrote:
| This is interesting because the quack who created Chiropractic
| wrongly thought he cured deafness with spinal manipulation. Just
| shows how powerful the real scientific method is.
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