Hacker News Board Hacker News, browsed like a classic message board
Live data from Hacker News

Gene therapy restored hearing in deaf patients

news.ki.se

Post reply on HN
Print view View original

61–70 of 98 posts

Re: Gene therapy restored hearing in deaf patients

#61

Post by gavinray »

codytruscott wrote: post #58
jhaddow wrote: post #41

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.

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…

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?

Re: Gene therapy restored hearing in deaf patients

#62

Post by famouswaffles »

guerrilla wrote: post #54
MintPaw wrote: post #22

Earlier quoted context omitted.

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.

Abuse by who? It's themselves who are against adopting it. It's just autonomy at work.

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.

Re: Gene therapy restored hearing in deaf patients

#63

Post by codytruscott »

gavinray wrote: post #61
codytruscott wrote: post #58

Earlier quoted context omitted.

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…

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…

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.

Re: Gene therapy restored hearing in deaf patients

#64

Post by janeerie »

im3w1l wrote: post #9
jonathanlb wrote: post #6

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.

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.

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."

Re: Gene therapy restored hearing in deaf patients

#65

Post by beaugunderson »

codytruscott wrote: post #58
jhaddow wrote: post #41

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.

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…

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/

Re: Gene therapy restored hearing in deaf patients

#67

Post by perryprog »

pcthrowaway wrote: post #31
retrac wrote: post #16

Earlier quoted context omitted.

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…

> 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",…

> 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.

Re: Gene therapy restored hearing in deaf patients

#68

Post by UltraSane »

magicalhippo wrote: post #43
retrac wrote: post #16

Earlier quoted context omitted.

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…

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

The culture unique to native ASL users.

Re: Gene therapy restored hearing in deaf patients

#69

Post by UltraSane »

retrac wrote: post #16
d0100 wrote: post #4

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

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…

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.

Re: Gene therapy restored hearing in deaf patients

#70

Post by UltraSane »

guerrilla wrote: post #54
MintPaw wrote: post #22

Earlier quoted context omitted.

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.

Abuse by who? It's themselves who are against adopting it. It's just autonomy at work.

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.
Post reply on HN