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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

#251

Post by arjie »

sircastor wrote: post #241
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…

I don't have anything to offer about your comment, but good luck! We did in-vitro and it was a long, stressful, expensive process. I hope you're successful and find parenthood to be fulfilling and joyful. (Ours is in Kindergarten :) )

Thank you very much and congratulations! We have 4 unaffected embryos and 2 affected ones, so I'm quite hopeful.

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

#252

Post by nozzlegear »

dekhn wrote: post #119
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. See also https://en.wikipedia.org/wiki/What_Is_It_Like_to_Be_a_Bat%3F and https://en.wikipedia.org/wiki/Knowledge_argument

Small tangent, but I first learned of the "What is it like to be a bat?" question via the book The Mountain in the Sea by Ray Nayler. Really good book that deals with the ethical problems of emerging sentience in a species of octopus, while set to the backdrop of climate change, sentient AI and overfished oceans.

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

#253

Post by fastball »

sh4rks wrote: post #217
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.

What's the end goal of modern medicine though? Immortality? You can perhaps reduce suffering to nil, but you can't cheat death.

What is the purpose of this question? "Yeah sure, we're fixing people's problems that cause pain, suffering, loss of productivity, death, etc, but what is the ultimate goal?"

Sometimes the ends are the means.

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

#254

Post by Brian_K_White »

sh4rks wrote: post #217
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.

What's the end goal of modern medicine though? Immortality? You can perhaps reduce suffering to nil, but you can't cheat death.

What's the end goal of this remark? What's the end goal of learning to farm and produce food even when the weather and pest gods don't bless you this year? What's the end goal of learning to heat your hut instead of dying every winter?

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

#255

Post by jacobgkau »

xXx_uwu_xXx wrote: post #233
ImJamal wrote: post #136

Earlier quoted context omitted.

The controversy is due to cutting off perfectly good and functioning body parts. Correcting a body part that is not working correctly isn't all that controversial.

Are you implying that there'd be no controversy if people were able to swap parts of their bodies with others'?

No, he's implying that someone with a non-functioning body part getting a functioning donor (presumably from someone who just died and has no chance of ever needing or wanting theirs again) would not be controversial.

To answer farther into your line of questioning, though, I'd personally consider replacement reproductive systems "fully functional" only if they allow having children with one's own DNA. If we were to reach the level where someone could get a sex change and then perform the reproductive role of their new sex with their own DNA (except maybe the sex chromosome itself)-- and especially if they could then swap back in the other direction later-- I actually do think that would eliminate a lot of the implicit concerns that make it controversial.

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

#256

Post by arjie »

2dvisio wrote: post #209
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. Howev…

Yes, we are fortunate to live in a time where the technology is advanced enough to do this. My wife and I got ourselves sequenced before we decided to have a child (that's just data nerd nonsense) and when we discovered this we went through the whole shebang.

I believe it's the OTOF variant that affects the cilia growth. Without intending to give any hope (because I am a software engineer in the end, not a geneticist), perhaps the GJB2 variants can be fixed because they regulate electrical function. Who can tell. Decibel's AAV.103 will go into clinical trial in the next couple of years. https://www.decibeltx.com/pipeline/

The cochlear implant is wonderful tech. Before we had enough embryos, it was something that we discussed with our genetic counselor. Is your son still very young? Some of the OTOF treatments were in older children (in China). Perhaps the GJB2 treatments could be too. I am hopeful that even if your children and mine can't access this treatment, we will make this condition repairable shortly after birth from our generation onwards.

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

#258

Post by squigz »

jasonfarnon wrote: post #225
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…

What isolation? The children just become fluent signing with their parents, just as any child will spontaneously pick up their parents' language.

Do you think you'd feel as connected to your family if you could only communicate with them by writing, while you can communicate with everyone else by talking?

Yes, there would be a level of isolation. It needn't be extreme, but I can't imagine there would be none

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

#259

Post by mercurywells »

sandworm101 wrote: post #160
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…

>> so excited because future kids won't have to endure the same. When cochlear implants became routine there was a brief protest by the deaf and hard-of-hearing community. The line between people with a disability and a person who is simply different is a longstanding debate. How and when medicine should intervene is a hot button issue. I had a relative born with a malformed ear canal. The doctors rushed to get her t…

Brief? Many are still strongly against it, especially doing this very invasive surgery on babies.

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

#260

Post by squigz »

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 have extreme vision loss, and the idea of gaining full vision has always scared me a little. It seems like such a huge change in my perception of the world would be... jarring.

Of course, I still would. It just makes me a bit nervous.

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