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Deaf girl is cured in world first gene therapy trial

independent.co.uk

261–270 of 351 posts

Re: Deaf girl is cured in world first gene therapy trial

#261

Earlier quoted context omitted.

The controversy is due to cutting off perfectly good and functioning body parts. Correcting a body part that is not working correctly isn't all that controversial.

Are you implying that there'd be no controversy if people were able to swap parts of their bodies with others'?

I'm not sure how you came to that conclusion? If you had a functioning body part and could swap with another person that would still be cutting off a functioning body part. Just because you got another functional body part doesn't change anything.

If it becomes possible in the future to just swap body parts with no issues, it would probably be less controversial, but I don't think it would really be accepted. The problem is the current sex change operations are no where close to that. You can't just flip back and forth and have all your parts remain fully functional.

There is, of course an exception and that is with organ donation. That however only happens when the person who is removing the functioning part does not need theirs which can happen because they are dead, there is an extra one (kidney), or it will grow back (liver). This, of course, is not the same type of thing as we are talking about.

Re: Deaf girl is cured in world first gene therapy trial

#262
As a hearing person who grew up with deaf family members (my mom & aunt are deaf), I think many deaf people will actively oppose gene therapy for deafness. In the deaf community, there’s a large subsection that actively oppose things like cochlear implants or any other attempts to make deaf people hearing. There’s a few reasons why:

First, many deaf people feel an immense pressure to fit into hearing society. I know in my mom’s case her hearing parents refused to teach her sign language because they wanted her to fit in with hearing people. This is a pretty common experience for deaf people and one that many of them hate (my mom included). My suspicion is that to the deaf community things like gene therapy might feel like another way to force them to fit in instead of being themselves. No idea if this is actually how deaf people feel, but it is an educated guess based on what I’ve seen in my family.

Second, many in the deaf community don’t view deafness as a disability. I think it’s viewed as a gift of sorts. There’s even a term for it called “deaf gain” (a play on the phrase “hearing loss”). Basically, many deaf people think being deaf is a positive and not something that needs to be cured. So, the idea of curing deafness with things like gene therapy is very controversial in the deaf community.

Third, the deaf community has its own culture. For instance, there’s different social norms that are unique to deaf people (e.g. if you want to get someone’s attention you flick a light switch on and off). One of the fears of the deaf community is that if deafness is eliminated then the culture disappears. So, in many deaf circles, things like gene therapy are viewed as an existential crisis. I’ve even heard things like this likened to cultural genocide (which is a bit extreme) because of its threat to their culture.

So due to these reasons, I can’t see this treatment actually being popular with the deaf community. There’s already a huge emphasis within deaf families to not use cochlear implants on their kids due to it being viewed as a bad thing. As a result, I think it’s unlikely those same families will opt for gene therapy. I think most of the cases you’ll see of gene therapy being used are deaf kids whose hearing parents decided they need it or with the subset of deaf adults who don’t share the views of others in the deaf community.

Re: Deaf girl is cured in world first gene therapy trial

#263

Earlier quoted context omitted.

That was my first though, BUT... to play devil's advocate, people choose gender reassignment surgery (including young children) and that choice continues to be very very controversial.

Where are young children getting surgery?

In the US there are plenty of places where children can get surgeries. This is a small sampling of the locations:

The Stanford Children's Hospital [1] will provide surgeries to both minors and adults. It doesn't specify how young the children can be.

The University of Illinois [2] will do surgery on people under 18, but doesn't specify how young the children can be.

The University of Rochester [3] will do some surgeries for people under 18. It doesn't specify the age, but it is under the "Adolescent Medicine" section.

Seattle Children's Hospital [4] will provide referrals for gender-affirming surgery to children as young as 9 so long as they have started puberty.

[1] https://www.stanfordchildrens.org/en/services/gender/what-to...

[2] https://hospital.uillinois.edu/primary-and-specialty-care/su...

[3] https://www.urmc.rochester.edu/childrens-hospital/adolescent...

[4] https://www.seattlechildrens.org/clinics/gender-clinic/

Re: Deaf girl is cured in world first gene therapy trial

#264

As a hearing person who grew up with deaf family members (my mom & aunt are deaf), I think many deaf people will actively oppose gene therapy for deafness. In the deaf community, there’s a large subsection that actively oppose things like cochlear implants or any other attempts to make deaf people hearing. There’s a few reasons why: First, many deaf people feel an immense pressure to fit into hearing society. I know…

This is a truly important perspective. And I wonder if often treatments to make people more "normal" are sometimes more pushed by society because one of the prime pressures of modern society is to have everyone homogenized as cogs to advance technology rather than just be a person.

I would not be surprised if ADHD and other things are next. One of the prime aims of technology is in fact to erode independent communities because they are one of the few that can speak out against technological development (e.g. the Amish).

Re: Deaf girl is cured in world first gene therapy trial

#265
post #243

How it actually works (from https://www.fiercebiotech.com/biotech/little-protein-factory... ) DB-OTO is a cell-selective AAV gene therapy for children with hearing loss stemming from a mutation to the otoferlin gene. The otoferlin protein is expressed in the sensory hair cells of the ear, which have tiny cilia that move as vibrations come into the ear. These cells help signal between the auditory nerve and the hair c…

Sorry just wanted to clear this up - do you mean it delivers an extra set of DNA that does its thing alongside what is already there, rather than editing the main sequence like CRISPR wants to?

Yes, cDNA is a DNA fragment that does not interact with the patient's DNA in this treatment. Wikipedia: "Once amplified, the sequence can be cut at each end with nucleases and inserted into one of many small circular DNA sequences known as expression vectors. Such vectors allow for self-replication, inside the cells, and potentially integration in the host DNA. They typically also contain a strong promoter to drive transcription of the target cDNA into mRNA, which is then translated into protein."

Re: Deaf girl is cured in world first gene therapy trial

#266
post #57

Earlier quoted context omitted.

It might be the condition I have, otosclerosis, where the bones of the middle ear fuse. The surgery, a stapedectomy, involves removing the bones and replacing them with a metallic prosthesis. Unfortunately, in my case, the calcification is also happening in my cochlea which means that at some indeterminate time in the future, I will end up losing all hearing. Not to mention that even with the prosthetic, my hearing i…

Did your sense of taste change after your surgery? My sister is considering a similar procedure and is concerned that everything could start tasting like hot garbage.

No, I had a bit of dizziness for the first day or so, but otherwise there were no side effects. Absolutely no impact on my sense of taste.

Re: Deaf girl is cured in world first gene therapy trial

#267

Medical science is about the only thing in modern life that consistently delivers hope. While all the other terrible things are going on, something like this comes along and I’m just extremely happy to be alive right now.

Yet shitty LLM grift research proposals receive 100x the funding compared to endeavors similar to this.

Molecular Biology research is much more funded than computer science. At least in Academia.

Re: Deaf girl is cured in world first gene therapy trial

#268
post #37

Yuval Harari makes an interesting point in one of his books: that many kinds of these inventions always start as a way to treat people with some kind of a medical condition and bring them into the "median" spectrum, but there's no stopping there and the same inventions are then used to bring "median" people into the "super-human" spectrum. What happens next is that the "regular" humans have to compete with these "sup…

I can't think of a medically relevant example except maybe stimulants and painkillers, but outside of medicine, this definitely is the case with technology: many inventions have a ratchet effect - they start as gimmicks, but when they reach a critical mass of users, they confer so much competitive benefits that they rapidly spread everywhere, and eventually become required to function. Examples range from agriculture…

> I found it enlightening to ponder the history of clocks. There was a time nobody needed one; it wasn't actually useful for anything[0], because nothing in agricultural societies happened fast enough to require hour or minute accuracy.

This seems a rather dubious claim, for something invented and used for more than 3000 years (see sundials and water clocks - https://en.m.wikipedia.org/wiki/Clock). Uses mentioned incidentally in that wikipedia article seem to include religious observances, astronomy, astrology, watches (as in “night watch”).

Also, as I understand it, the navigation use wasn’t really practical until precise clocks were developed in the 18th century.

Re: Deaf girl is cured in world first gene therapy trial

#269
post #57

My Mom was born with less than half of her hearing in left ear and barely anything at all in right ear. She had surgery as an adult and it slightly improved, especially on the right side. Pretty sure this little girl and my Mom don't share the same disability at all but she saw these news today and texted me so excited because future kids won't have to endure the same. Brings tears to my eyes, I'm so grateful for mod…

It might be the condition I have, otosclerosis, where the bones of the middle ear fuse. The surgery, a stapedectomy, involves removing the bones and replacing them with a metallic prosthesis. Unfortunately, in my case, the calcification is also happening in my cochlea which means that at some indeterminate time in the future, I will end up losing all hearing. Not to mention that even with the prosthetic, my hearing i…

Those torps are pretty cool but they can get dislodged. I got one in college but I think the benefits for me didn't last more than a year or two. I'll try again someday because my nerve hearing is excellent, it's only my conductive that is poor.

Re: Deaf girl is cured in world first gene therapy trial

#270
> “The audiologist played back some of the sounds that she was responding to and they were ridiculously quiet sort of sounds that in the real world wouldn’t catch your attention during a conversation,” Mrs Sandy said.

That could be problematic, couldn't it?

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