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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

#141

Post by arjie »

My wife and I are selecting which embryos to implant because we have a related condition (this one is a mutation in OTOF, we have one in GJB-2). Being able to implant the embryos affected with this condition (carrying two copies of the gene - mine and my wife) would increase the number of viable embryos we have by 50%.

It won't be in time for us to actually implement unless we're down to our last few embryos through failure. We were able to detect ours because we used Orchid Health to scan the embryo genome for monogenic conditions. But it's exciting to think that novel gene therapies might be accessible if we somehow fail to implant with the other embryos we have.

All this stuff is very futuristic and it's definitely rescued us since my wife and I started dating and got married within the last year, by which time we were quite old.

Very cool stuff from Regeneron.

EDIT: I actually looked this up and got a reading list which I went through over lunch. There's quite a lot of work on this front.

Regeneron/Decibel Therapeutics have DB-OTO and are developing a GJB-2 (the one we have) gene therapy too https://www.decibeltx.com/pipeline/

Akouos has AK-OTO https://akouos.com/our-focus/

There's a Chinese group that claims they had success in older patients (search for AAV1-hOTOF)

The April issue of Molecular Therapy has a few of these. For a quick read look at the Oral Abstracts from the Presidential Symposium. Molecular Therapy Vol 32 No 4S1, April 2024

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

#142

Post by eternauta3k »

capitainenemo wrote: post #118
jfengel wrote: post #89

Earlier quoted context omitted.

The problem there isn't your receptors, which are UV sensitive. The problem is your lens, which filters it out. Remove the lens and you can see UV just fine. Until you get eyeball cancer, that is. UV is mutagenic. That's why you filter it out. People with cataracts get replacement lenses, and some exist that don't filter the UV. I think they're hard to get, what with the whole "eyeball cancer" thing. But if I get to…

It's not just cancer right? UV light will damage those sensitive photoreceptor cells, so you would end up seeing less and less of anything over those couple of decades. Even non-UV blue light is hard for the eyes to deal with. Personally I'd just prefer wearing glasses that shift the UV to some other part of the spectrum.

> Personally I'd just prefer wearing glasses that shift the UV to some other part of the spectrum.

Does this exist? I thought those kinds of non-linear effects only happen at extremely high fields (e.g. with a very fast pulsed laser to concentrate energy in time)

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

#143

Post by TecoAndJix »

tomaskafka wrote: post #112
burnished wrote: post #92

Earlier quoted context omitted.

I started smoking as a teenager and almost entirely lost my sense of smell. I later spent years working in cafes and bars and did a lot of food and beverage tastings where I used my limited sense of smell to the best of my ability and got pretty good at it . Eventually I met my favorite person, who didn't smoke, so I quit and over the course of the following weeks it felt like I was regaining my sense of smell with o…

Wow! There is a great gag in latest Star Trek where Spock reveals that Vulcans need to medically suppress their smell near humans because we just stink to their sensitive noses.

Here is another reference from Enterprise with T'pol: https://www.youtube.com/watch?v=tIYsVBaYNSU

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

#144

Post by maratc »

TeMPOraL wrote: post #73
maratc wrote: 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…

> those people realized they're able to coordinate better when they have synced clocks, which made new things possible

The development of clocks is related to industrialization and opening of plants that need all the workers to be there at e.g. 8 am for the shift to start. If you have to be at the factory at 8 am you'd better know what time it is. It's not that the development of clocks has brought us factories; rather, the development of factories has brought us clocks.

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

#145

Post by claytonwramsey »

burnished wrote: post #92
gherkinnn wrote: post #25

What always interests me with stories of people hearing or seeing for the first time in their life, what is it like to gain a new sense? One would think that growing up with a sense is integral to its processing (and filtering) and the sudden introduction of a sense later in life would come with all sorts of side effects.

I started smoking as a teenager and almost entirely lost my sense of smell. I later spent years working in cafes and bars and did a lot of food and beverage tastings where I used my limited sense of smell to the best of my ability and got pretty good at it . Eventually I met my favorite person, who didn't smoke, so I quit and over the course of the following weeks it felt like I was regaining my sense of smell with o…

> At the height of it I thought I would eventually learn to smell the future.

Oddly enough, Salman Rushdie’s Midnight’s Children covers this exact feeling almost in the same way as you describe. If you haven’t read it, I definitely recommend it - it’s a long read but also very enojoyable.

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

#146

Post by interloxia »

eternauta3k wrote: post #138
dekhn wrote: post #119

Earlier quoted context omitted.

I am really curious what the subjective experience of a color-blind person undergoing gene therapy gradually being able to perceive the difference between two colors that previously appeared the same. See also https://en.wikipedia.org/wiki/What_Is_It_Like_to_Be_a_Bat%3F and https://en.wikipedia.org/wiki/Knowledge_argument

I guess the person would have no associations with the pure color red. Non-colorblind people have a life full of memories where red is associated with blood, lipstick, flushed cheeks, race cars, etc. plus the associated feelings. I'm guessing they only really get the full effect of the therapy after they've lived without colorblindness for a while and made those associations. Do you think there's a fundamental differ…

Red is a great. I hope that it would be like the reaction videos of kids having their Cochlear implant turned on for the first time.

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

#147

Post by [deleted] »

thehappypm wrote: post #9

I’m optimistic that at some point, I’ll be able to get a treatment to take care of my red green color blindness. I’m well aware that it’s very much a first world problem, and rightfully should be very low on the totem pole of medical issues to cure. But goddamnit, I want to see red.

[deleted]

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

#148

Post by devilbunny »

derefr wrote: post #97
ggreer wrote: post #59

Earlier quoted context omitted.

In color blindness, the cone cells produce an incorrect opsin protein that isn't sensitive to red (or is sensitive to a frequency close to green). Gene therapy would fix that, though it'd probably take a while for the brain to understand the new information. The main reason this therapy isn't available is because the FDA has decided that the risks of gene therapy aren't worth the benefit of curing color blindness. I…

> I agree with that evaluation, but I also think mavericks should be allowed to try curing their own colorblindness (assuming they had informed consent and paid for the therapy themselves). I mean, what's stopping you? This guy cured his own lactose intolerance: https://www.youtube.com/watch?v=J3FcbFqSoQY But I'm guessing — in part because you say "paid for the therapy" — that you don't really mean "should be allowed…

FWIW, doctors usually specify brands over generics when it actually matters if you have the same supplier every time. Bioavailability of generics is +/- 20% compared to the original branded drug by law in the US. So if you have a legal, generic drug here, it might be a 120% one, and your next refill might be an 80% one - you just got a 1/3 reduction in dose without warning. And if you have seizures? That’s a bad thing.

My wife is a neurologist. She deals with this. I’m an anesthesiologist; I just give more as needed because my patients don’t take their own drugs. Almost everything I give is generic, and the exceptions are when those fail.

You can make a very good living as a physician in the US without being a whore. Not worth my moral sense to make a few more dollars that won’t go to me directly anyway. Sure as hell not worth it to her; she’s a hospital employee.

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

#149

Post by dekhn »

eternauta3k wrote: post #138
dekhn wrote: post #119

Earlier quoted context omitted.

I am really curious what the subjective experience of a color-blind person undergoing gene therapy gradually being able to perceive the difference between two colors that previously appeared the same. See also https://en.wikipedia.org/wiki/What_Is_It_Like_to_Be_a_Bat%3F and https://en.wikipedia.org/wiki/Knowledge_argument

I guess the person would have no associations with the pure color red. Non-colorblind people have a life full of memories where red is associated with blood, lipstick, flushed cheeks, race cars, etc. plus the associated feelings. I'm guessing they only really get the full effect of the therapy after they've lived without colorblindness for a while and made those associations. Do you think there's a fundamental differ…

I'm not attempting to speculate, I'm just saying I wonder what the subjective experience would be like. I stopped trying to think what it would like to be a bat a while ago.

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

#150

Post by bongodongobob »

eternauta3k wrote: post #138
dekhn wrote: post #119

Earlier quoted context omitted.

I am really curious what the subjective experience of a color-blind person undergoing gene therapy gradually being able to perceive the difference between two colors that previously appeared the same. See also https://en.wikipedia.org/wiki/What_Is_It_Like_to_Be_a_Bat%3F and https://en.wikipedia.org/wiki/Knowledge_argument

I guess the person would have no associations with the pure color red. Non-colorblind people have a life full of memories where red is associated with blood, lipstick, flushed cheeks, race cars, etc. plus the associated feelings. I'm guessing they only really get the full effect of the therapy after they've lived without colorblindness for a while and made those associations. Do you think there's a fundamental differ…

I think most people misunderstand color blindness in that most red-green colorblind can see red, it's just muted. I know what red looks like, but it needs to be plain old bright red.
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