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Deaf girl is cured in world first gene therapy trial

independent.co.uk

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

#191

Post by santoshalper »

ForrestN wrote: post #88

As a disabled person, I admit to being made slightly uncomfortable by the uncritical framing of genetically modified people as "therapy" that all people should want. Where is the line between "gene therapy" to eliminate differences (such as deafness) and eugenics? If we have statistics that taller people have better outcomes in life, should we do gene therapy to make sure everyone is taller than 6'? How much diversit…

Here's the problem with slippery slope arguments. You could substitute all medicine and your point would still stand. Do people with a limp need to be "fixed" or does it add character? You know who is the right person to decide that? The person receiving the therapy, or if they are a minor, their parents. Nobody else is well equipped to make the decision for them.

I suppose I could be wrong, and this could be the start of Gattica, but I highly doubt it. I think far more likely is that over the next few decades, millions of people will be able to hear who otherwise would not have.

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

#192

Post by izend »

dhosek wrote: post #57
world2vec wrote: post #35

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…

I was recently diagnosed with otosclerosis, have you found a hearing aid that works best for otosclerosis, my Doctor mentioned that most hearing aids don't work well for low frequency loss.

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

#193

Post by codeulike »

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 cells, passing information from the ear to the brain. Children born with this type of genetic hearing loss have the hair cells and can detect the signal coming into the ear.

“But they can't get that message from the ear to the brain, basically, because otoferlin is critical to enable that communication,” Whitton explained.

That’s where DB-OTO comes in. The adeno-associated viral vector delivers the gene therapy to the ear to provide a payload of cDNA that expresses the protein in the hair cells that are missing it. The hypothesis was that if they provided the gene, patients could eventually begin to hear on their own.

Regeneron does not yet know how long the effect will last, but “rigorous” preclinical tests were done to get a sense of durability, according to Whitton. Since those hair cells targeted by the gene therapy do not turn over during a person’s lifetime, they believe the effect should be persist once restored.

“The ones that you're born with are the ones you will have the rest of your life, so if we can create a little protein factory in those cells, make the protein that's missing, there's reason to believe that you could have long-term benefit,” Whitton said.

Note this is not CRISPR, its more like just adding little chunks of DNA into the cell (which I think is called upregulation). 'Gene Therapy' can mean many other things apart from Crispr, there's a whole complicated pipeline of processes that can be targeted.

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

#194

Post by [deleted] »

anthony__j wrote: post #29
Aurornis wrote: post #22

Earlier quoted context omitted.

> like someone mentioned in a separate comment, you are conflating disease with disability here. when people become too old to walk without assistance, you wouldn't say that they have a walking disease. This girl's disease was a genetic auditory neuropathy. They cured her genetic auditory neuropathy. Pedantic arguments about what it's called are missing the point. The person had a specific disease. It was cured.

to you, this is a pedantic argument. but to millions of Deaf people in the US alone, this is a very important political point. for example, lots of Deaf people who prefer to live without cochlear implants face lots of pressure from people who consider deafness to be a "disease" to be "cured", when in fact, they feel their most authentic way of living to be something different. in this way, language is significant

[deleted]

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

#195

Post by antegamisou »

alsetmusic wrote: post #71

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.

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

#196

Post by TeMPOraL »

xhevahir wrote: post #170
TeMPOraL wrote: post #77

Earlier quoted context omitted.

> when people become too old to walk without assistance, you wouldn't say that they have a walking disease. Why not? We have some peculiar cultural memes related to accepting the inevitable end of life, which we perhaps should revisit. I see no reason to not consider aging itself as a slow-burn disease, one we'll hopefully cure at some point too.

"Peculiar cultural memes" is an odd way of describing a piece of advice that one encounters so frequently in cultures the world over.

Well, peculiar now, given the understanding of biology we gained over the last 70-ish years. Individually, it still makes sense, but at social level, it stops us from working on fixing the problem.

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

#197

Post by spondylosaurus »

silverquiet wrote: post #107
spondylosaurus wrote: post #95

Earlier quoted context omitted.

Also disabled, and this is a topic I've been chewing on a lot lately—I started writing up a longer comment but deleted it, lol. What I really want to say is that I have a few problems I would 100% cure in a heartbeat, and a few that I'm less sure about, so I get it. Some disabilities only have one true cure: fix the part of your body that's bad at its job. No amount of accomodation or acceptance is going to mitigate…

I'm actually in this position a bit. I'm still young(ish) with a serious hip condition that causes me some disability. There are options for replacement that could get me to near full function, but there are drawbacks and the shear fear of surgery and replacing part of my body with metal and plastic. If I was wheelchair-bound, I don't think it would be a hard choice, but I am able to essentially do most of the things…

Hip problems are brutal, been there before :( Mine (mostly) resolved when I addressed some other underlying issues but I was also seriously considering joint replacement for a bit!

The surgery and downtime are no joke, but everyone I've talked to who went through with a replacement was glad they did. I even know at least one guy who now works on his feet all day. Not saying to just take the plunge now, but if you ever do, the outcomes seem pretty damn good.

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

#198

Post by contingencies »

alsetmusic wrote: post #71

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.

Serious suggestion: try gardening.

To plant a garden is to believe in tomorrow. - Audrey Hepburn

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

#199

Post by lapetitejort »

xyst wrote: post #187

As a person that’s not deaf. It’s great to hear scientific breakthroughs can help people experience life with this important sense. Although I think there’s a train of thought that think being deaf is not a genetic deficiency. Would deaf parents raising a child that is not deaf struggle? Would assimilation into the family unit be difficult? Personally, I think the level of isolation as a child from their parents woul…

There's some good movies based around deafness:

https://en.wikipedia.org/wiki/CODA_(2021_film)

https://en.wikipedia.org/wiki/Sound_of_Metal

And a bad video game:

https://en.wikipedia.org/wiki/The_Quiet_Man_(video_game)

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

#200

Post by downWidOutaFite »

alsetmusic wrote: post #71

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.

Funny because I feel the opposite. Health care is so broken with all the politics, insurance, bureaucracy, financialization, etc that the vast majority of people are not able to reap the rewards of progress. Even the science is perverted because of bad incentives and only potentially lucrative research is funded.
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