Gene therapy restored hearing in deaf patients

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."

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.

I don't see how this represents the singularity. This is all humans doing work and building knowledge, much like it has always been. Can you point to a specific section of the article that elicits that assumption? Thanks

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

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@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?

the site i maintain is a bit out of date, but i accept PRs if you have time to add the broad clinical labs data!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/

Do you want to be my ENT?

> Early efforts in gene therapy had disastrous results

Can you share examples...? Just curious as an outsider looking in.

> But you can't ignore the cultural consideration.

We can and should, the same way we ignore the corresponding "cultural consideration" that mothers who have undergone female genital mutilation themselves will feel alienated from their daughters if they do not inflict the same treatment on them. In this case, most people have no problem recognising that the rights of the daughter to enjoy her own sensory experience far outweigh the (quite real) emotional isolation that would be experienced by the parent -- so why is deafness treated differently?

Denying another person sensory experience is abuse. If that person is a child, it's child abuse. For me the harm inherent in this has nothing to do with whether sign languages are perceived as "real" languages on par with spoken languages. It's obvious to me as a hearing person that sign languages are indeed "real, full" languages, the same way written languages are, and, more generally, the same way that languages I don't personally understand but other people do, are. Sign languages are real, full languages -- and preventing a person who would be able to hear from hearing is still abuse.

I think the reason this is not called out more frequently and stridently by hearing people is that many of us fear being labeled "prejudiced" or worse, and being associated with the political right, who have a long history of making absolute moral claims about outgroups. It's simply an unusual quirk of our times that this specific quality of being seen as culturally presumptuous is the thing that no Right-Thinking Person wants to be seen doing right now, resulting in many otherwise intelligent people bending over backwards to avoid the stigma, even to the point of denying obvious realities like "a life that includes access to more sensory experience is a richer life".

> 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.

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.

> culturally deaf world

What's this defined as? Keeping away from all non-deaf people?

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.

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.

If this is a joke it's in extremely bad taste

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.

> 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.

> 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)