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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

#181

Post by kelnos »

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…

That's a really tough one. I just watched the lactose intolerance fix video you linked. Certainly that fabrication process is beyond my ability. But, after more of my own research, maybe I'd decide I want to pay someone else to produce the therapy for me. (I'm not anywhere near as lactose intolerant as the guy in the video, but it's bad enough that I'd be happy to rid myself if this problem.)

But should I be able to do that? Am I capable of evaluating the risks? Am I capable of even enumerating the various risk factors? This is not my field at all. Maybe the person making this for me is doing it in an unsafe manner, in a way that could result in dangerous contamination. How would I know?

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

#182

Post by dekhn »

bongodongobob wrote: post #150
eternauta3k wrote: post #138

Earlier quoted context omitted.

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.

protanopia: can't see red. protanomly: some red is visible.

The guy I worked with who was RG CB couldn't wire up stepper motors (typically use 4 wires, red green blue black), he couldn't tell the difference and had to use a multimeter.

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

#183

Post by bglazer »

verisimi wrote: post #140

I'm glad this little girl can hear. But I don't understand how this can possibly work. We can read: > “So basically, we find the inner ear and we open the inner ear and infuse the treatment, in this particular case using a catheter, over 16 minutes,” he said. Genes are in cells, right? It seems like what is being said is that this therapy goes in and alters all the cells. The altered cells then keep the alteration. W…

It's a virus that adds a bit of genetic code to cells in the ear. The new genetic code is the instructions for the protein that is broken in the the little girl (and other similar patients). The cell can then use the newly introduced DNA to make a protein. This protein restores the link between the auditory sensory cells and the auditory nerve cells.

Regarding the word "infused", the viral particles are carried in an aqueous solution into the inner ear. The viral particles then do their work on the cells that the solution flows over. So it is literally infused, although that sort of elides the bit about the virus actually delivering the active bit of the treatment: the new gene.

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

#184

Post by Geee »

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…

Another viable future tech for this might be neural implants similar to Neuralink. Not sure how viable it would be.

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

#185

Post by PebblesRox »

dotnet00 wrote: post #76
Octokiddie wrote: post #68

Earlier quoted context omitted.

Breast augmentation could be one case.

Haha I guess that might technically fit.

You could say the same for plastic surgery in general. Techniques developed to restore injured faces (e.g. of soldiers) are now used for cosmetic purposes.

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

#186

Post by 93po »

itslennysfault wrote: post #129
thehappypm wrote: post #51

Earlier quoted context omitted.

I have, yes. I can describe it sort of like this: Imagine you're watching a black-and-white movie on an old TV, and it looks kind of washed out. You fiddle with the contrast, and suddenly the movie looks much crisper and with better contrast. You're not actually seeing more colors -- its just grayscale -- but you can optimize it to give you more depth of perception. That's what EnChroma does. It doesn't actually make…

So, does it just look like different green? Like still green, but you can tell it apart from "true" green? Like wearing them could you pass a colorblind test even though you still can't see red?

i can see reds and greens, but very similar shades next to each other, i can't tell. i also can't see either color very well when it's a really small sample size (for example, the green under my power switch on my wireless mouse to show that it's on).

the way i think about it is that people who aren't colorblind have a maximum green value that is much higher than mine. the enchroma glasses, which i've tried, effectively make greens more green. i feel like it makes things inaccurately colored, but exaggerates colors enough to be able to better differentiate. i still can't see past my "maximum green" value though, which is why those marketing videos of people crying are total bullshit. it just looks like a very saturated instagram filter. it doesn't make me see colors i haven't seen before.

i didn't try a color blindness test with them but i should have. the best memory i have of using it is that it was fall time and the leaves on a bush in my yard were turning red, but i had no idea until i put the glasses on, and i could distinctly tell which leaves were turning and which weren't.

i liked them and wanted to keep them, but i couldnt justify the $220 price or whatever it was, so i returned them. i want to get another pair some day

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

#187

Post by xyst »

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 would have a certain degree of impact on mental health.

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

#188

Post by projektfu »

pugworthy wrote: post #17
porterbeats wrote: post #13

Earlier quoted context omitted.

I'm deaf in one ear and 70db loss in the other, just wanted to say nobody cares what you call it as long as you aren't an asshole about it. Being pediatric helps nobody

Did you mean pedantic (annoyingly corrective) or pediatric (child(ish))?

pedantically, pediatric means child (paithi) doctor (iatros) -ish... Apologies for the transliteration into latin letters.

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

#190

Post by capitainenemo »

bongodongobob wrote: post #154
eternauta3k wrote: post #142

Earlier quoted context omitted.

> 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)

No, at least not without active electronics.

Fluorescence?
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