> "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. "
Can't read that and not get curious, excited, for the future.
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)
Hopefully in the next 50 years but that’s wishful thinking.
Given our overall density, we would need enormous wings and musculature. Consider that the heaviest flying birds alive today weigh maybe 40lbs and have a wingspan of 8ft or so. If we naively extrapolate that linearly then an adult weighing 160lbs would need a 32ft wingspan.
There were flying pterosaurs that weighed much more than the heaviest flying birds today, but they were also the size of small planes and it’s a bit of a debate how well they even flew. They may have struggled to even take flight.
So injecting yourself with some designer DNA isn’t just going to make you grow wings, it would have to completely transform you into a completely different creature, simply due to the physics of flight.
Additionally, you need not only to be able to fly, but your body needs to function well enough to stay in this new state. You would also likely need an enormous caloric intake to support the massive new growth, or it would take a very, very long time.
It wouldn’t be designing wings for a human, it would be designing a be creature based on a human but not human at all, really. Call me shortsighted but I don’t really see how that will ever be possible.
It might prove easier to grow biological pylons for external jet engines...
Some viruses will just inject the DNA into cells, but will not become part of the cell's genome ("transient" transduction). Other viruses (like lentiviruses and these adeno-associated viruses [AAVs]) inject their DNA not just into the cells, but also have machinery that splices their payload DNA directly into the cell's chromosomes ("integrated"). The location in the genome of the splicing event is relatively random. Random is not necessarily great as it could interrupt other genes already in the chromosome. CRISPR is a now-famous tool that helps "integrate" DNA into a specific spot in the genome by being guided to a specific location with a small piece of a specific sequence.
Once the DNA is integrated, any cell, and any of the cell's progeny, will produce or "express" the gene on the delivered DNA. In this case, they delivered the 5991 characters of DNA associated with the OROF gene [1].
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.
And that resilience-with-fragility you speak of instantly reminded me of our giant cloud clusters, with their tiny points of failure that test the limits of redundancy.
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&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'll have at children.
The technology itself is unbelievably futuristic: involving using a virus to deliver a repaired gene into existing cells.
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'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.
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 https://news.ycombinator.com/item?id=40312242
https://en.wikipedia.org/wiki/Jonas_Salk
> Salk was immediately hailed as a "miracle worker" when the vaccine's success was first made public in April 1955, and chose to not patent the vaccine or seek any profit from it in order to maximize its global distribution
After the patient is two years old, many large molecules do not pass through the blood brain barrier. Typically most of the treatment ends up in the liver. Viruses and the gene editor can be toxic. Combining the two previous points the correct dose for most of the body can be highly toxic to the liver. The delivery vector may support genes up to a specific size (in kilobases) which may be smaller than the gene you are trying to fit. Sometimes you don't want to target organs that the delivery vector hits. Sometimes you want to target organs that the delivery vector misses. And more.
There is rapid progress being made here and all kinds of caveats and nuance to the above.
Interesting: Does this mean that the other 3 children are still kind of indifferent to Music and presumably other kinds of sounds?
It wouldn't be surprising if there was a certain age beyond which you cannot learn to understand music.
I can understand things like that get harder and harder as you become adult. That it's absolutely not possible beyond a certain age I think is just a commonly held belief that doesn't hold up to scrutiny.
What is this age limit where you've never seen anyone be able to gain that skill? I'm sure there are counter-examples.
I doubt the whole world will respect that.
Political problems are situations where different elements of society are fundamentally at odds with each other over one option vs another. Freedom vs security, progress vs conservation, reform vs tradition - these are all cases where there are strong arguments on both sides and there fundamentally isn't a right answer. No one is politically in favor of death due to curable disease - eliminate the technological issues that tie curing the disease to something people actually politically oppose, like say higher government spending, and the political opposition goes away.
You can't "restore" hearing to those who never had it.
The idea that these are people who are "broken" and need to be "fixed" is something a lot of Deaf people are very opposed to.
Are they maybe "opposed" to been seen like that because there was no hope for any solutions besides just being OK with it?
In the future when it's more accessible and cheaper, shouldn't being born without hearing be considered a "fault" of sorts, as you can now introduce this sense to them, like most others being born with hearing at birth?
The best case scenario is that this wouldn't do anything.
That being said, there is a lot of things an SWE can do in a support role.
Some of the things I did were data processing pipelines (both automatic and human centric UI for phenotype gathering) and interconnected networks of scientific instruments, as well as some deployments of R and Python code.
Sure, your name wont show up along with hundreds of others in the Nature publications, but you will know that you contributed to the overall success. And it does feel good.
https://en.wikipedia.org/wiki/Cochlear_implant#Criticism_and...
I don’t know of any language agnostic phonetic sign used as a first language for children: that sounds about as hard as making them learn through writing instead of talking.
Frankly, I disagree. I think a deaf person should be entitled to decline a low-risk treatment that would cure or mitigate their own deafness -- but to make that decision for a child is altogether different. Deliberately restricting a human being's sense experience throughout their lives should be considered child abuse, in the same basket as female genital mutilation. It's also about the most selfish thing I can imagine -- especially given that there's no reason I can see why a hearing child of deaf parents can't grow up "bilingual", learning both spoken and sign languages.
But none of the current options are risk free, and I doubt this one will be. They all have risks, side effects, and probably the chance of failure. And then the question is how low of a risk is acceptable to restore a child's hearing. These are people who would live an otherwise healthy and normal life, and they'd grow up in an accepting deaf family which is likely already plugged into a community. I can't imagine how it would feel to have a serious side effect (or worse) impact your child when you know they could have gone without that procedure and lived a happy, fulfilling life. But I also understand the desire to give your child every possible opportunity.
All of that is to say, I think it is reductive to compare this to child abuse or FGM. There's no right decision, and parents absolutely will need to make a difficult choice, hopefully prioritizing their child's safety and future above all else.
I've got relatives that teach deaf children. most deaf kids who grow up in societies with mostly hearing kids, want to be normal more than anything. At the same time, for many who are eligible for cochlear implants, getting that early before speech development begins in earnest is very important, ideally when they're just a toddler or younger. Early enough and you'll barely notice any difference in their speech, understanding, etc. However, their parents often decline it and say they want to let their child be the one to choose when they're old enough to- which is far, far outside the best window for developing that area of the brain, as well as speech. They might be behind in those ways for the rest of their lives if they're not given therapy to help catch up.
I understand both sides I guess, but if consent is the issue, why not give them the implant and let them choose to disconnect the receiver then when they're older? Obviously, because they won't want to, and rarely ever do.
To be fair, LGBTQ community isn't 'broken.' Some people are inherently gay, lesbian, etc.
Deafness _is_ an actual defect. The weird thing that we should not strive to fix human defects when they are truly defects is astounding.
>OTOF-related deafness is inherited in an autosomal recessive manner. If both parents are known to be carriers, each sib of an individual with OTOF-related deafness has at conception a 25% chance of being deaf, a 50% chance of having normal hearing and being a carrier, and a 25% chance of having normal hearing and not being a carrier.
Another alternative is selective abortions after early genetic testing (though ethic and morale concerns here are huge).
/s
