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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

#201

Post by CSSer »

dekhn wrote: post #130

Gene therapy has been an extremely slow game. Part of that is ethics, and part of that is technology. A single death in a single trial slowed down gene therapy for decades https://en.wikipedia.org/wiki/Jesse_Gelsinger I dedicated much of my biology training to learning how to carry out gene therapy only to conclude that it will continue to be the underdog in disease therapy for a long time. I do not expect to see lar…

I expected to read that and find it was a fluke accident. Instead, it reads like the scientists shrugged before the injection and said, “What’s the worst that could happen?”

That’s unreal. It killed monkeys under similar circumstances and the kid wasn’t at his healthiest at the time of treatment either. Did they not care or was there some reason to believe that outcome was virtually improbable?

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

#202

Post by tnorthcutt »

lapetitejort wrote: post #199
xyst wrote: post #187

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 woul…

There's some good movies based around deafness: https://en.wikipedia.org/wiki/CODA_(2021_film) https://en.wikipedia.org/wiki/Sound_of_Metal And a bad video game: https://en.wikipedia.org/wiki/The_Quiet_Man_(video_game)

I strongly endorse both of the mentioned movies. They're both excellent.

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

#203

Post by _whiteCaps_ »

xyst wrote: post #187

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 woul…

Anecdotally, I know of one hearing person raised by deaf parents, and he's fluent in sign language. There's no isolation between them.

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

#204

Post by jamiek88 »

silverquiet wrote: post #107
spondylosaurus wrote: post #95

Earlier quoted context omitted.

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…

I'm actually in this position a bit. I'm still young(ish) with a serious hip condition that causes me some disability. There are options for replacement that could get me to near full function, but there are drawbacks and the shear fear of surgery and replacing part of my body with metal and plastic. If I was wheelchair-bound, I don't think it would be a hard choice, but I am able to essentially do most of the things…

Do you have significant pain?

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

#205

Post by zaphod12 »

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.

I can assure you that regeneron pays very well, including significant equity and has absolutely fantastic benefits. Software developers probably get more at door dash (it isn't bad by any means, but they aren't "the talent" at regeneron after all), but folks involved in the science and trials are doing very well.

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

#206

Post by iLoveOncall »

1970-01-01 wrote: post #169
iLoveOncall wrote: post #123

Earlier quoted context omitted.

This is not at all a summary, it's a book review and it is based on 4 hand-picked examples. I wouldn't read anything into it.

https://en.wikipedia.org/wiki/Molyneux%27s_problem#Current_r...

Not sure what's that supposed to show? n = 5 and the results just 5 days after the first survey were extremely positive.

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

#207

Post by harimau777 »

jajko wrote: post #166
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.

Astronomy is cool too, nothing anchors you back in reality like realizing how absolutely microscopic and insignificant our entire mankind's existence was and is. Solid perspective and understanding of bigger picture is important, then nothing can surprise you much.

Personally, I find astronomy quite depressing. Learning that humanity is stuck on this rock; at least for my lifetime if not forever. As a kid I dreamed of exploring space. As an adult I learned that is impossible.

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

#208

Post by devilbunny »

lupire wrote: post #175
devilbunny wrote: post #148

Earlier quoted context omitted.

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…

True but it's not ±20%, it's "90% confidence interval of the mean is within +25%/-40%" which puts the dose much closer to 100% in practice. https://www.pharmacytimes.com/view/debunking-a-common-pharma... Still, these measured %ages should be much more explicit in the actual delivered drugs and in the range of values that are determined safe. There are plenty og drugs where double dose is fine and the therapeutic dose…

Thanks, that's good to know.

Antiepileptics are a very special category of drugs in that respect - they really do need to be right on target every time. I know a neurologist with epilepsy - not my wife - and he takes branded Zonegran. Thyroid hormone supplements are similar although the consequences are much lower (you're not going to accidentally kill anyone in a car wreck if your thyroid hormone is low).

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

#209

Post by 2dvisio »

arjie wrote: post #141

My wife and I are selecting which embryos to implant because we have a related condition (this one is a mutation in OTOF, we have one in GJB-2). Being able to implant the embryos affected with this condition (carrying two copies of the gene - mine and my wife) would increase the number of viable embryos we have by 50%. It won't be in time for us to actually implement unless we're down to our last few embryos through…

You are lucky to know ahead of time about your respective mutations. We didn’t (no family history and both asymptomatic carriers) and my son was born bilateral profoundly deaf (connexin 26). We have chosen the path of cochlear implant (which is an amazing technology). We are both looking forward to seeing advancements in therapies for GJB2 mutations sparing many parents (and children) what we have been through. However, corrective therapy for GJB2 might require much earlier discovery of the issue and earlier administration I believe, as usually those variants affect actual physical growth of hair cells in the cochlea.

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

#210

Post by dekhn »

CSSer wrote: post #201
dekhn wrote: post #130

Gene therapy has been an extremely slow game. Part of that is ethics, and part of that is technology. A single death in a single trial slowed down gene therapy for decades https://en.wikipedia.org/wiki/Jesse_Gelsinger I dedicated much of my biology training to learning how to carry out gene therapy only to conclude that it will continue to be the underdog in disease therapy for a long time. I do not expect to see lar…

I expected to read that and find it was a fluke accident. Instead, it reads like the scientists shrugged before the injection and said, “What’s the worst that could happen?” That’s unreal. It killed monkeys under similar circumstances and the kid wasn’t at his healthiest at the time of treatment either. Did they not care or was there some reason to believe that outcome was virtually improbable?

I honestly don't know what they were thinking.

BTW, most gene vectors today are based on lentiviruses... specifically, from HIV. It took a few tries before they found a method to reliably remove all the bad bits from the vector. See https://www.nature.com/articles/s41375-018-0106-0 and other articles on the evolution of HIV as a gene therapy vector.

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