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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

#51

Post by thehappypm »

delinom wrote: post #39
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.

Have you tried color blindness glasses (e.g. EnChroma)? I am not familiar with them but some reaction videos were pretty heartwarming.

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 you see red, but it heightens the contrast to make it stand out more.

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

#52

Post by thehappypm »

silverquiet wrote: post #24
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.

I don't really know enough of the medical details - I thought people with color blindness lacked the proper receptors in their eyes, so it's not like in the article where a connection is restored; you'd have to grow new infrastructure in the eye which seems a bit more complicated. Nevertheless, would be very cool if possible - I know lots of men with color blindness.

It's the cones in the eye -- they have a defect and make them less receptive to red wavelengths. If you gene-edited them, you could have new cells without that defect.

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

#53

Post by maratc »

dotnet00 wrote: post #45
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…

You say that as if this has happened before ("many kinds of these inventions always start as..."), but what conditions have actually had this happen? I can't think of anything that started as something to help bring people up to a median level, to then end up bringing median people into a super-human level. Everything we've done so far have all been ultimately limited by the human body, so things that bring people up…

Think of e.g. the development of optics that brought us the eyeglasses first, and the telescopic sight on a sniper rifle second. Now imagine an army of median humans that need to fight the army of genetically-modified humans that can see in the dark.

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

#54

Post by lioeters »

anthony__j wrote: post #38
lioeters wrote: post #27

Earlier quoted context omitted.

I used to live in Texas near the biggest deaf school in the U.S. From my understanding, some people in the deaf community do consider the word "cured" to be offensive because they don't consider their condition to be a disease. I don't know if that's the dominant view and preference, but if that's the case, perhaps we should all learn to respect their culture, as much as we're all learning to respect (up to some poin…

this is great thinking. to me, the line to be drawn has a lot to do with lived experience. talking about deafness involved lots of people who live their entire lives affected by deafness, while discussing evolution affects peoples spiritual beliefs, which i see as largely a personal (if cultural) choice.

I guess it's a touchy topic these days. Some believe we shouldn't cater to people's beliefs and choices (is identity a choice? up to a point..); and especially not cater to what people might find offensive. I understand their point, because there are people who are overly sensitive and are offended by many normal things.

The use of the word "cure" in this context is a perfectly logical choice of wording. Should we even consider whether some deaf people are offended by this word? It seems like the polite thing to do, but maybe it's a slippery slope that compromises the objectivity of science and clear communication of scientific findings.

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

#55

Post by delinom »

thehappypm wrote: post #51
delinom wrote: post #39

Earlier quoted context omitted.

Have you tried color blindness glasses (e.g. EnChroma)? I am not familiar with them but some reaction videos were pretty heartwarming.

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…

That's what I imagined it to be, a slight improvement but obviously no miracle.

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

#56

Post by tonetegeatinst »

amelius wrote: post #40
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…

You can only switch a gene "on" once. So I'd like to see some examples. Or do you mean more people with all their genes switched "on" so to speak?

Epigenetics would like a word.

A gene can be expressed but from what I rember from my college classes....the epigenetics can determine if the gene actually works correctly and how effective it is.

Think of it as the ability to lower the overall expression of the gene

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

#57

Post by dhosek »

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 isn’t 100% so I have a difficult time understanding speech. There might be some gene therapy that can remedy things, but I think what I may be hoping to see is the ability to grow a new inner and middle ear from stem cells and transplant them into my head, but I suspect that at age 55, I won’t see this happen in time for me.

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

#58

Post by jeffwass »

noman-land wrote: post #31
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.

There is an entire class of YouTube video of the first moments that people see color, or hear, and it is absolutely, without question, the most joyous and wonderful class of video out there. Just so many happy tears. Little kids hearing their mother's voice for the first time. Friends seeing color for the first time after being given corrective glasses as a gift. Highly recommended watching.

As the father of a deaf girl who had cochlear implant surgery a few years ago, I despise these videos for misleadingly representing the reality of the situation for most patients.

Those videos you mention are designed to invoke “happy-feelies” to maximise engagement and monetisation, nothing more.

The doctors warned us not to expect any reaction in our daughter like in those videos.

Even so, I wasn’t prepared for just how difficult my daughter’s post-implantation journey was. It took many months before the implants provided even remotely similar benefit as the tiny amount of benefit her older hearing aids could give.

She had to learn to hear all over again from scratch.

This affected her self-confidence, her friendships, her schooling, and was a very difficult time for her.

Those turn-on videos you mention are overly saccharine to make you feel good while having nothing to do with the reality of the situation for almost all cases.

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

#59

Post by ggreer »

silverquiet wrote: post #24
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.

I don't really know enough of the medical details - I thought people with color blindness lacked the proper receptors in their eyes, so it's not like in the article where a connection is restored; you'd have to grow new infrastructure in the eye which seems a bit more complicated. Nevertheless, would be very cool if possible - I know lots of men with color blindness.

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 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).

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