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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 i
by arjie 3y ago
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 failure. We were able to detect ours because we used Orchid Health to scan the embryo genome for monogenic conditions. But it's exciting to think that novel gene therapies might be accessible if we somehow fail to implant with the other embryos we have.
All this stuff is very futuristic and it's definitely rescued us since my wife and I started dating and got married within the last year, by which time we were quite old.
Very cool stuff from Regeneron.
EDIT: I actually looked this up and got a reading list which I went through over lunch. There's quite a lot of work on this front.
Regeneron/Decibel Therapeutics have DB-OTO and are developing a GJB-2 (the one we have) gene therapy too https://www.decibeltx.com/pipeline/ https://www.decibeltx.com/pipeline/
Akouos has AK-OTO https://akouos.com/our-focus/ https://akouos.com/our-focus/
There's a Chinese group that claims they had success in older patients (search for AAV1-hOTOF)
The April issue of Molecular Therapy has a few of these. For a quick read look at the Oral Abstracts from the Presidential Symposium. Molecular Therapy Vol 32 No 4S1, April 2024
- 2dvisio 3y agoYou 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.
- arjie 3y agoYes, 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/ 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.
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- sircastor 3y agoI 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 :) )
- arjie 3y agoThank you very much and congratulations! We have 4 unaffected embryos and 2 affected ones, so I'm quite hopeful.