Live data from Hacker News

Deaf girl is cured in world first gene therapy trial

independent.co.uk

91–100 of 351 posts

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

#91
post #46

Earlier quoted context omitted.

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.

Unfortunately most of those videos about the glasses are basically staged. Some of those companies have gotten in trouble for making false claims.

It truly is sad if that is the case that those videos are staged, but, anecdotally, I worked in the eye glass business (lab manager) to pay for college back in the day and I assure you, I have personally seen babies see their parents for the first time clearly and there was plenty of tears to go around.

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

#92

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 owed interest. I found out my city smells like shit and piss, flowers can have powerful aromas you smell from some distance, and some smells had become physically distressing to me. At one point I went to my favorite person's house, commented that it smelled like old grapes when they opened the door, and found out they had burnt a scented candle called champagne dream hours ago. At the height of it I thought I would eventually learn to smell the future.

I find I filter more now but I still find a lot of stronger smells to be deeply unpleasant and I don't recall being sensitive like this as a child.

I learned to identify some smells and relate the experience to others but my notes tended to be very basic, especially compared to a friend who was working on his level two sommelier test (who was ruthlessly empirical in his epicureanism so I believe wasn't bullshiting the wine snobbery).

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

#93
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…

I had no idea that was possible. If you'd asked me, I would have guessed that it wasn't.

Astonishing. Sorry it's not a permanent fix for you, but it's impressive as hell that they could do anything.

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

#94

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…

[deleted]

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

#95

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…

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 the worst parts of, say, liver disease. But other disabilities have two paths forward: cure the body, or create a world that's more accommodating to people with that disability. Deafness seems like it falls in that category, which is tricky, because both paths have salient points but are also at odds with each other.

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

#96
post #89
post #62

Earlier quoted context omitted.

And I want to see UV like our proto progenitors, enough of these little brown birds we can't tell apart.

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…

Are you eyes more sensitive to UV than the rest of your body?

I guess melanin absorbs UV in the skin, so this serves a similar purpose in the eye?

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

#97
post #59

Earlier quoted context omitted.

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…

> 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 to cure their own colorblindness"; but rather "should be allowed to buy a colorblindness treatment from a vendor of such" or maybe "should be allowed to request a prescription of a colorblindness treatment from a doctor who acquires it from a vendor of such."

And you're already also allowed to do that — in theory. The FDA doesn't care about people buying medical treatments. It cares about companies selling them. Because companies are profit-focused, and the quickest way to money in medicine is to lie.

For you to be able to get what you want, there'd have to be an intermediate category that stops just shy of the current "FDA-approved medical therapy" category. For a treatment to qualify for this category, it would still have to pass both safety and efficacy studies. The only thing that would be different, is that the FDA wouldn't weigh the safety vs. the efficacy of the treatment at the end; but instead just put an absolute minimum threshold on both safety and efficacy, and leave the prescriber to determine whether the safety risk outweighs the efficacy.

But think about that word "prescriber." This would certainly allow people motivated to do this to go to their doctors and ask for such treatments specifically. But it would also enable doctors to choose such therapies for their patients, without the patient being previously aware of the treatment option.

And doctors can be bought. (See: doctors prescribing on-patent drugs when equally-effective generics are available; doctors adding on unnecessary adjunct therapies because a sales rep convinced them they should "give it a try"; etc.)

Do you want to live in a world where there's no ability for regulatory bodies to set a safety:efficacy-ratio threshold on a doctor's ability to prescribe drugs to patients? A world where a (bad) doctor might prescribe a drug that has a huge risk for very little chance of success, and all they have to do is put a consent form in front of the patient for the huge risk — without even having to explain the low-efficacy part?

(Honest question. Some people might very well prefer such a world.)

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

#98

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…

Am I reading it wrong or are you admiring deafness which shouldn't be cured? Or the deaf people who are admirable?

Why should curing deafness not be a goal of medicine?

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

#99
post #84

Earlier quoted context omitted.

Re-read my comment, I haven't said anything about the future. My point was just that it seems weird to talk about it as if it has already happened. It might happen in the future, but it's worth considering that a powerful prosthetic limb or exoskeleton that is superior to the biological version in every way makes both the disabled person and the perfectly healthy person equally superhuman.

I re-read your comment, but I still disagree that the evidence provided by myself and others in response, as well as evident near-term future advancements, are irrelevant to the comment you responded to. > a powerful prosthetic limb or exoskeleton that is superior to the biological version in every way makes both the disabled person and the perfectly healthy person equally superhuman. I think I'm not following, or el…

>I think I'm not following, or else failing to see the relevance to this comment. This is essentially what the GP was getting at: these advancements can/will lead to anatomically "correct" humans failing to compete.

I suppose this is just down to interpretation/point of focus.

I was focusing on the 'levels' being referenced. A 'perfect' prosthetic allows all people to be able to reach the same level, while the GP was talking about things that bring below median people to median level only, and previously median people to super-human level.

If we interpret this to refer to competition against people who aren't using any augmentation, it covers even just the act of practicing. Which in my opinion, kind of defeats their point by making it excessively broad.

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

#100

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…

Perhaps we should have different words for voluntary (choosing to regain your hearing, etc...) and coercive (forced sterilization, etc...) "eugenics", since almost all of the negative connotations of the word are (rightly, IMO) attributed only to the latter.

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.
Post reply on HN