Live data from Hacker News

Deaf girl is cured in world first gene therapy trial

independent.co.uk

321–330 of 351 posts

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

#321
That's awesome. So happy for her and all the others like her who now have hope.

Anyone who understands the treatment, do you know if the reverse is possible too? I have hyperacusis and could benefit from deafening, esp if it's easily reversible.

The best we have now is disrupting the ossicular chain. Other than surgical risks, it's not fully reversible.

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

#322
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…

This implies that birds don’t get eye cancer even though their lenses are different. I wonder what their protection is

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

#323
post #299

Earlier quoted context omitted.

It couldn't exist otherwise. The privileged will always be the ones to push the boundaries of any endeavor, medicine included. Have hope that those rewards continue to work their way down, even though the process is long and arduous.

> It couldn't exist otherwise That's just a failure of imagination, no? Endless sci-fi stories tell us a better world is possible, including wild genetic treatments curing deafness. Why should that apply to tech, but not society?

Name one story where privilege doesn't flow from the top down. That's not a story, that's a fever dream.

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

#324
post #305

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.

I think this is why the skyrocketing costs of healthcare in the US are so upsetting to me. Its sucking away the hope by putting so many of these technological miracles out of reach.

The high Healthcare costs in the US are caused mostly by high physician salaries though, and that's probably highly correlated with why they are able to make all these breakthroughs

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

#325
post #97

Earlier quoted context omitted.

> 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 thin…

> 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.

Certainly, but I was mostly referring here not to doctors who actually make more money due to pharma companies; but rather to doctors who are "lobbied" / "direct marketed" to by pharma companies, using steak dinners, free samples (implicitly, to dispense directly to patients without insurance coverage — big in e.g. psychiatry), exclusivity arrangements with HMO boards, and so forth.

There's also the propaganda level: full-page ads in industry publications, biased (but technically unaffiliated) guest speakers presenting at industry conferences as a condition of sponsorship of said conferences, etc.

(My own wife is an optician. If you ignore frames and just focus [heh] on lenses, the optical industry is essentially a specific instance of the "medical device" industry. The number of people from the lens companies who come in to "educate" staff on "relevant use-cases for" their new technologies, but who end up instead trying to feed them specific marketing spiels, is ridiculous. The quantity of submarine product pitches I see disguised as factual content when I flip through her trade magazines is also ridiculous. And the industry-sponsored content that she had to wade through as part of her degree was downright abominable.)

> 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.

I think you're speaking here of cases where a generic medicine is prescribed directly, which can get resolved to any old (white-label, store-brand?) formulation of the drug on each refill, or especially if you switch pharmacy.

But I was (clumsily) trying to motion at the idea of doctors prescribing an on-patent drug (that can only be manufactured by one company) vs. prescribing any specific brand of a sufficiently-effective, off-patent drug (where the lack of patent creates competition as many major pharma companies release their own formulations, which then lowers the price for all brands' versions of the drug, not just for the generic / white-label ones.)

This is specifically relevant in the case of patent lifetime extension — i.e. the classic https://www.youtube.com/watch?v=I0VIOQ4OpD8 — though also then see https://www.reddit.com/r/patentlaw/comments/16dyvfi/drug_pat.... Regardless of who's responsibility this phenomenon is, it does happen — doctors prescribing (expensive) X+1 rather than (now-cheap) X, because X+1 is now the standard of care... even though X was fine last week.

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

#326
post #49

Earlier quoted context omitted.

steroids

Most, even in the presented example of the olympics aren't having to compete against those on steroids though?

Most people are competing against people on steroids. They’re incredibly common.

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

#327
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…

This implies that birds don’t get eye cancer even though their lenses are different. I wonder what their protection is

At a guess: they don't live long enough for it to outweigh the benefits. While there are exceptions, wild birds often live only a few years.

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

#328

I'm 80% deaf on my left ear due to measles carried by my mom before my birth. I couldn't gather from the article whether this would help my case, but I'm hopeful regardless.

Unfortunately this particular therapy will not.

However the vehicle being used (viral) could be used to carry a different payload which enables regeneration of the cells it targets. This research has proven they can get to the place which is important.

Though remember hearing is comprised of many things, auditory nerve, SGC, axons, supporting cells, INC and outer, not to mention a healthy environment for which hearing cells 'bathe' in (Perilymphatic fluid).

The research is ongoing, I often hoped there was more advocacy groups to help increase government funding in this area as it's a condition soon to affect us all because of age.

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

#329

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…

[deleted]

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

#330

Earlier quoted context omitted.

I was about to say we pay for all this super modern progress by making healthcare so expensive it's out of reach of the vast majority of people in the world (and in the US).

https://www.census.gov/library/publications/2023/demo/p60-28... Over 92% of Americans have health insurance. The vast majority DO have access to healthcare.

Until the “wrong” ambulance comes to your door.
Post reply on HN