Gene therapy restores hearing to children with inherited deafness

This stuff seems miraculous.<p>&gt; &quot;Through minimally invasive surgery, Shu injected adeno-associated virus (AAV) engineered to carry and deliver functioning copies of the human OTOF transgene, into the children’s inner ears. &quot;<p>Can&#x27;t read that and not get curious, excited, for the future.<p>Congratulations to all those involved in the research and thanks to all who contributed to it - including all taxpayers if public funding was given, even indirectly (i.e. in the schooling and education, grants, for said researchers)

&quot;The children involved in the study were born with DFNB9, which accounts for between 2 and 8% of hereditary deafness. It is caused by mutations in the OTOF gene which prevent the production of functioning otoferlin protein, which can significantly reduce sound transmission from the inner ear hair cells to hearing nerves.&quot;<p>Just shows how much of our body functions we take for granted. Every function has a critical path that is so vulnerable. This is despite the human body having all kinds of redundancies. Our body is so resilient, yet at times, some of the mechanisms are so fragile.

Through a mutual acquaintance, I met someone who did a little work for on the OTOF gene therapy and it really is remarkable stuff.<p>My wife and I had our embryos screened by Orchid Health since we have a related genetic condition: a pathogenic mutation in GJB-2. Amazingly, Decibel Therapeutics has has one of these in R&amp;D and the OTOF success gives us hope. We have a few embryos that are affected and the more that can grow up healthy the more chances we&#x27;ll have at children.<p>The technology itself is unbelievably futuristic: involving using a virus to deliver a repaired gene into existing cells.<p>This form of non-syndromic hearing loss may well be repaired two generations from now. An interesting thing is if you follow along with the literature, some Chinese labs report success with these gene therapies in kids on the cusp of teen age. That&#x27;s remarkable. It will give a lot of people today the chance to have healthy kids in the future even if they were unfortunate enough to carry the genes today.<p>Personally, the fact that I can practically hold a whole genome sequence of our embryos on my computer means the future is here. Last time, I posted a few links for everyone interested in the subject <a href="https:&#x2F;&#x2F;news.ycombinator.com&#x2F;item?id=40312242">https:&#x2F;&#x2F;news.ycombinator.com&#x2F;item?id=40312242</a>

Gene therapy is coming on well. Hopefully it&#x27;ll help my kid when he&#x27;s older. From what I&#x27;m being told, the gene that effects him is very large and difficult to fit into the viruses they use for gene therapy. My understanding is very limited so I could be very wrong here.

When I try and imagine what that must be like from the inside—I can’t think of anything more exciting or scary than to gain a new sense.

This is the sort of stuff I conceptualize as a true tech(nical&#x2F;nology)startup. I realize that’s in some ways at odds with the meaning in practice. But this is amazing technology.

How hard is it to introduce permanent mutations to DNA in adults, across every cell in the body? That seems like the holy grail of gene editing to me!

&gt; Two of the children even gained an ability to appreciate music.<p>Interesting: Does this mean that the other 3 children are still kind of indifferent to Music and presumably other kinds of sounds?

&quot;Aissam, the boy who escaped from a world of silence thanks to gene therapy&quot;: <a href="https:&#x2F;&#x2F;english.elpais.com&#x2F;science-tech&#x2F;2024-06-05&#x2F;aissam-the-boy-who-escaped-from-a-world-of-silence-thanks-to-gene-therapy-im-hearing-the-phone.html" rel="nofollow">https:&#x2F;&#x2F;english.elpais.com&#x2F;science-tech&#x2F;2024-06-05&#x2F;aissam-th...</a>

If I&#x27;m interpreting the article correctly, it seems like the amount of hearing recovered is pretty good. I was wondering how much hearing was actually restored.

The genetic corrections are not inherited, right?

All of us have to get real and demand immediate speed-up of LLMs, Gene Therapy, etc. Absolutely nothing else matters.

Tangent, but this reminds me of <a href="http:&#x2F;&#x2F;news.bbc.co.uk&#x2F;2&#x2F;hi&#x2F;health&#x2F;1916462.stm" rel="nofollow">http:&#x2F;&#x2F;news.bbc.co.uk&#x2F;2&#x2F;hi&#x2F;health&#x2F;1916462.stm</a>

Language nit:<p>You can&#x27;t &quot;restore&quot; hearing to those who never had it.

How likely to cure tinnitus ?

How can I get involved in this work as a software engineer?

I’m curious about the effect on the deaf community. I understand there’s resistance to “fixing” deafness as some consider it a component of their culture and community, not unlike queer people and the attempts to “fix” them.<p><a href="https:&#x2F;&#x2F;en.wikipedia.org&#x2F;wiki&#x2F;Cochlear_implant#Criticism_and_controversy" rel="nofollow">https:&#x2F;&#x2F;en.wikipedia.org&#x2F;wiki&#x2F;Cochlear_implant#Criticism_and...</a>

Wait until they have kids. The deafness gene will be passed along. Soon enough we&#x27;ll be like the cars with the hardware without the software or the locked features.

Genetic issues are more prevalent in communities that practice inbreeding. Eliminating inbreeding seems to be an easier fix than genetic therapy.