I’ve been following this for a personal interest. Decibel Therapeutics was working on this for quite a while with a lot of success before they were acquired by Regeneron and it was very promising but the next ones in the pipeline were personally relevant. They’re a fix for the GJB2 gene mutation that causes hearing loss. Unlike the OTOF error, this one is progressive so you have to get to it fast.

My wife and I carry mutations to the gene so we’ve done preimplantation genetic testing to select the embryos that haven’t been affected and our daughter can hear just fine! We have enough unaffected embryos that we can have another child but if we can have a third we’d probably want a boy[0] and both of our male embryos are coincidentally affected. If somehow we’ve managed to delay long enough for the corresponding Decibel TX AAV.103 gene therapy to come to market, then this will be an incredible triumph of modern science and technology over nature.

Here’s hoping!

If you’re curious about this process, I’ve written about it here: https://wiki.roshangeorge.dev/w/IVF

And here’s the treatment pipeline image I nicked off decibel TX’s website before they were acquired a year and a half ago https://wiki.roshangeorge.dev/w/File:Screenshot_Decibel_Tx_P...

I’m super thrilled everything has gone through so fast.

0: it would just be nice to have children of both genders; a weak preference - if I have 3 daughters I would be thrilled anyway

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shevy-java 3 hours ago | parent [-]

Sounds like advertisement to me.

But, ignoring this, you wrote:

> If somehow we’ve managed to delay long enough for the corresponding Regeneron AAV.103 gene therapy to come to market, then this will be an incredible triumph of modern science and technology over nature.

How does this relate to offspring exactly? The "delay long enough" part makes no real sense to me. Also, no treatment is usually always 100% effective, so I don't understand the "delay long enough" part either. Plus, there is no "nature" anymore than there is a divine being. What this here is simply the difference between having technology; and not having it. "Nature" is not part of any equation here other than regular genetic information and how it is changed, "naturally".

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arjie 3 hours ago | parent | next [-]

Haha welp. Just a fan. But if it means anything, I’ve been at it for quite a while. Here’s another comment from years ago https://news.ycombinator.com/item?id=42149228

That’s about when I found out about the Decibel Tx therapy ongoing. If I have any underlying motivation it’s that maybe we could get earlier access to the therapy. Sadly, scientific studies don’t admit fan clubs preferentially.

The delay long enough is that we have all of our embryos in cold storage and we’ve been able to select the ones that are unaffected. My daughter is a bit over a year old and we’re planning a second implantation in the next few months where we will obviously select an unaffected embryo. But a third child, if my wife wishes, will be another 3 years from now. If PGT allowed us to go from a 2023 plan to have kids to a 2029 son born from a male embryo we were able to keep in cold storage till a therapy was available to give him hearing at birth, I think that qualifies as being able to delay long enough.

And about the Nature comment, imagine it a form of metonymy. I’m just referring to random chance and genetic mutation and so on. I’d call my glasses a triumph of man over nature too :)

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john_strinlai an hour ago | parent | prev | next [-]

>Plus, there is no "nature" anymore than there is a divine being. What this here is simply the difference between having technology; and not having it. "Nature" is not part of any equation here other than regular genetic information and how it is changed, "naturally".

the pedantry of some HNers never ceases to amaze me. all of these words to not actually say anything.

	▲	timschmidt 33 minutes ago \| parent [-]
		There's always an XKCD: https://xkcd.com/386/

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John7878781 2 hours ago | parent | prev [-]

Why are you so hostile?