Deaf girl is cured in world first gene therapy trial • Hacker News Board

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

#111

Post by Analemma_ » Thu, May 09, 2024, 7:04 PM UTC

foota wrote: post #96

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…

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?

I'm not sure about more sensitive, but I know the immune system (which cleans up a lot of pre-cancerous cells before they become a problem) is much less active in the eyeball, so it probably pays to have extra defense against cell damage.

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

#112

Post by tomaskafka » Thu, May 09, 2024, 7:05 PM UTC

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…

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.

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

#113

Post by dotnet00 » Thu, May 09, 2024, 7:05 PM UTC

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…

At the same level, it's worth considering the effect on society. Western society (and increasingly global society) has grown a lot more accommodating for certain disabilities because it is understood that the condition was not the person's choice and cannot be fixed. But if the condition is capable of being cured/managed with no serious side effects, and the cures are easily accessible, what is the right amount of effort society should put into being accommodating?

These are all difficult questions, but it feels like we're going to eventually have to put aside our well founded fears over eugenics and confront these serious questions properly. For instance, many places offer the option to test fetuses/parents for markers of serious genetic disease and offer the option to terminate the pregnancy with the argument that the child would either not be viable or would have a horrible quality of life. On one hand this sounds reasonable, on the other hand it's pretty much a level of eugenics.

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

#114

Post by sertgert » Thu, May 09, 2024, 7:06 PM UTC

eklavya wrote: post #98

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…

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?

I'm reading it like the hedonist's treadmill. Why be happy with a 6 figure salary when there's people with 7 figure salaries? Are you content with your current situation, or are you missing a part of what it means to be human by not having better eyesight, better teeth, better hearing?

I think what OP was referring to was how rich the lives of the deaf can be, and how discouraging it might be to hear "y'know, you're not /really/ experiencing life until you can hear"

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

#115

Post by vunderba » Thu, May 09, 2024, 7:10 PM UTC

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 mean this isn't really a novel point, this is true of everything not just biological enhancements, but technological enhancements as well. The privileged will always have first dibs.

But historically the wealthy/first adopters help fuel the continued development of said inventions, which helps drive down the price, eventually allowing the larger public to have access to it.

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

#116

Post by dotnet00 » Thu, May 09, 2024, 7:10 PM UTC

unsupp0rted wrote: post #69

Every time I hear about a new medical discovery or treatment, I think "yeah right, maybe in 15 years". Well, here we finally are. Our ancestors, and I mean great-grandparents and grandparents, would call us gods.

It is interesting to wonder if they'd call us gods in a good way though. Perhaps they might see it as 'playing god' instead. HN being a techie crowd tends to skew this a bit, but it's worth remembering that genetic engineering is still pretty controversial to the average person: https://www.pewresearch.org/internet/2022/03/17/americans-ar...

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

#117

Post by weakfish » Thu, May 09, 2024, 7:12 PM UTC

highwayman47 wrote: post #87

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.

It would be nice if people at these companies were rewarded the same way as food delivery app employees.

huh?

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

#118

Post by capitainenemo » Thu, May 09, 2024, 7:16 PM UTC

jfengel wrote: post #89

tejtm wrote: 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…

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.

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

#119

Post by dekhn » Thu, May 09, 2024, 7:18 PM UTC

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 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.

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

#120

Post by m1n1 » Thu, May 09, 2024, 7:18 PM UTC

bglazer wrote: post #21

sneilan1 wrote: post #2

Is this an application of CRISPR?

No, this is an adeno-associated virus (AAV) gene insertion. An engineered version of a naturally occurring virus inserts a working copy of the OTOH gene into the genome of cells in the inner ear. EDIT: I was incorrect. It seems that the virus doesn't actually does not insert itself into the genome. Instead it forms a circular DNA loop (episome) in the cell that is like an extra chromosome. The normal DNA reading mach…

And regular cell-division will include this episome the way it does the regular chromosomes?