This is great news. Hopefully this will be expanded to other forms deafness like those caused by ototoxic medication, ear infections, and general sensorineural hearing loss.
This particular study looks like it's dealing with a pretty narrow condition and solution (protein missing - add gene for protein). I don't think this particular research can be extended the way you hope.
Yes, I would really like to see research targeting Connexin 26, since it's the most common cause of hearing loss, but it seems it's much more difficult to "cure."
I agree. The causes of deafness I mentioned are diverse and fall outside the specific focus of this current study. Ideally, future research will address deafness caused by these and other other factors.
... and then there was this Phase-1 trial in Japan about re-growing missing teeth.
We're really making astonishing progress in many different areas in medicine these days. They are mostly pretty narrow, but also so awesome that ~20 years ago, many doctors would have called it science fiction.
I don't see how this represents the singularity. This is all humans doing work and building knowledge, much like it has always been. Can you point to a specific section of the article that elicits that assumption? Thanks
How would one find out if they have this type of hearing loss? I have moderate to severe hearing loss in both ears since birth and there’s never been an attempt that I’m aware of to diagnose the cause beyond a standard inner ear examination.
Whole Genome Sequencing is affordable now. I’d suggest a 20x hifi long read from broad clinical labs for $1200 or so. Use opencravet to dig into the results. They just posted a webinar for personal analysis https://wse.zoom.us/webinar/register/WN_-VvYJ8FKRcGaKCQtLFrU...
Franklin by genoox is a slicker and possibly more approachable product depending on your interface preferences.
Genetic research — due to the number and subtly of variants — is ripe for citizen science in my opinion.
If you have partial genome data from 23andMe, Ancestry, etc, you can use what's called "genomic imputation" to do a sort of probabilistic gap-filling in your genome.
It's a bit tricky to do yourself, but there are paid services that will run the imputation for you and share the results.
Thank you for this! My wife recently got a pathology report back reporting a rare variant of a rare cancer and I’m trying to get back into genomics (an almost masters degree) now to see if there’s anything my computering can do to aid. I’ve contacted Broad Clinical Labs.
Genomics-driven diagnosis of several (treatable) conditions is not science fiction anymore, but requires support from governments and national health systems. The technology is there, and can be scaled up.
You know, whenever treatment for autism comes up, we get a lot of comments heavily suggesting curing autism is basically eugenics.
Why is it that some things are seen as a disability we should try to fix in our children, and others - which are in many ways just as debilitating - seen as some kind of beautiful part of humanity?
Autism is a spectrum disorder and I don’t think it should be controversial to cure low functioning autism. However, high functioning autists can be argued to be more of a personality variant than a disability, with different strengths and weaknesses compared to neurotypical people. Society benefits greatly from supporting high functioning autistic people in say, technical fields where hyperfocus, narrow obsessions and systemising thinking are an advantage.
Meanwhile, having a genetic condition like haemophilia doesn’t give you any conceivable advantage.
I don't even think there should be a conversation around high functioning autistics. My kid suffers from autistic catatonia. She's also extremely high functioning. I'm sorry, there is no world where I'm going to say no thanks to a cure for my daughter's body suddenly locking into place for an unknown period of time or losing the ability to speak or function randomly or hell just understand human expression without intense intervention. We can argue about their special brain powers or whatever, but all I'm seeing is that high functioning autistic have a much higher rate of self-harm and suicide. It can't be that great.
> Society benefits greatly from supporting high functioning autistic people in say, technical fields where hyperfocus, narrow obsessions and systemising thinking are an advantage.
At the expense of those people having to live with all the unmentioned negative aspects of autism.
(To say nothing of whether those are actually positives or not. Personally, I don't see how hyperfixating on something for a few weeks at a time at the expense of all my other responsibilities is a superpower, but hey)
> Meanwhile, having a genetic condition like haemophilia doesn’t give you any conceivable advantage.
Sickle-cell anemia does though. I wonder if some day there could be a survival advantage for haemophilia. What if we erase the genetic code that ends up saving us from some alien virus, you know?
I'm not saying this is a good argument, just something interesting to think about.
While I'm probably considered high-functioning autistic, I have seen the devastating effects autism can have on people less lucky than me. I don't know if I'd go for an autism cure myself, but if autism can be corrected for in the womb or right after birth, I would definitely be in favour. How necessary such a cure would be, depends on how extreme someone's autism is, and if the cure can be administered before their disability helps form and solidify their personality.
However, I think mental disorders like autism and physical ailments like deafness don't have the same ethical impact. One changes who a person is, the other changes what a person is capable of. It also depends on how bad the disability is; in this case, the kids showing most promise could already hear, though badly, and the treatment let them hear much better. I'm not even deaf but I'd happily take a treatment to fix whatever hearing damage I've collected over the years.
And for what it's worth, eugenics is already with us and that's actually not so evil. People carrying certain genetic diseases choose not to have (biological) kids all the time. Others still choose to risk it. As long as there isn't some large conspiracy about perfecting the human race behind it, eugenics can be helpful.
The tech behind this is not new or difficult. The issues are related to safety and regulation. Early efforts in gene therapy had disastrous results and current treatments are not trying to repeat past mistakes.
There is tremendous potential for gene therapy to cure disease, however it needs (and so far has had) strict regulation, particularly if the changes can be inherited.
I can't say anything about the specifics of this treatment, but in terms of their ability to fully benefit from hearing, it would depend on when they became deaf, and the severity of their deafness.
If they were born deaf, or lost hearing as a young child during the language development stage, then it would probably be a long adjustment. Things would just be noise and it would take a lot of training to distinguish sounds, speech, etc. And unlike a cochlear implant, you couldn't just take it off to give your brain a rest.
If they had hearing loss later in life, or some residual hearing, then they probably have a better chance of re-adjusting to hearing.
If they've been deaf from infancy, basically the entire hearing center of the brain is non-existent. So they'd be hearing sound, but processing it into meaningful content would not happen, if at all. So basically, its like having a cacophany of sound that you can't filter and process...
As for others, one thing hearing people, particularly monolingual hearing people, don't understand very well is that hearing != understanding. Just because you hear a sound doesn't automatically equate to it having meaning. The default for many people is to just SPEAK LOUDER and slower, which does not help in the vast majority of encounters
Really challenging. In some aspects it can be worse than to regain vision.
If you are not accustomed to sounds, they can be annoying, and may make you feel tired. The same can happen with vision, it is just too much, but you can close your eyes, and shut out vision stimuli. You can't do that with hearing. At least if you regain hearing with normal sensitivity, you can be overwhelmed by sounds of your body.
It is easier with implants, which can be shut off.
I have always felt that hearing problems are difficult to truly "cure" and that most people can only use hearing aids. But this study is really different. If the key protein can be repaired, those conditions that seemed unchangeable in the past may now have a chance of turning around. Both children and adults can benefit from it, and this medical progress is really impressive.
Readit News
We're really making astonishing progress in many different areas in medicine these days. They are mostly pretty narrow, but also so awesome that ~20 years ago, many doctors would have called it science fiction.
Franklin by genoox is a slicker and possibly more approachable product depending on your interface preferences.
Genetic research — due to the number and subtly of variants — is ripe for citizen science in my opinion.
If you have partial genome data from 23andMe, Ancestry, etc, you can use what's called "genomic imputation" to do a sort of probabilistic gap-filling in your genome.
It's a bit tricky to do yourself, but there are paid services that will run the imputation for you and share the results.
I paid $15 for mine at https://dnagenics.com
---
@codytruscott I signed up for that webinar, I hadn't heard of this tool before, thanks!
Got any other useful links/tools to share by chance?
https://whichgenome.com/
Genomics-driven diagnosis of several (treatable) conditions is not science fiction anymore, but requires support from governments and national health systems. The technology is there, and can be scaled up.
With studies like this: https://www.genomicsengland.co.uk/initiatives/newborns
and initiatives like this: https://www.bbc.co.uk/news/articles/c1ljg7v0vmpo#:~:text=Eve...
Dead Comment
Why is it that some things are seen as a disability we should try to fix in our children, and others - which are in many ways just as debilitating - seen as some kind of beautiful part of humanity?
Meanwhile, having a genetic condition like haemophilia doesn’t give you any conceivable advantage.
At the expense of those people having to live with all the unmentioned negative aspects of autism.
(To say nothing of whether those are actually positives or not. Personally, I don't see how hyperfixating on something for a few weeks at a time at the expense of all my other responsibilities is a superpower, but hey)
Sickle-cell anemia does though. I wonder if some day there could be a survival advantage for haemophilia. What if we erase the genetic code that ends up saving us from some alien virus, you know?
I'm not saying this is a good argument, just something interesting to think about.
However, I think mental disorders like autism and physical ailments like deafness don't have the same ethical impact. One changes who a person is, the other changes what a person is capable of. It also depends on how bad the disability is; in this case, the kids showing most promise could already hear, though badly, and the treatment let them hear much better. I'm not even deaf but I'd happily take a treatment to fix whatever hearing damage I've collected over the years.
And for what it's worth, eugenics is already with us and that's actually not so evil. People carrying certain genetic diseases choose not to have (biological) kids all the time. Others still choose to risk it. As long as there isn't some large conspiracy about perfecting the human race behind it, eugenics can be helpful.
Is there a specific field in genetics pushing this?
I used to hear buzz about CRISPER/CAS9 is it what is underlying most of these advancements?
How come alot of gene editing stocks have taken a serious beating if the tech is so good.
Many, many gene editing stocks have lost more than 90% of thier value since IPO.
There is tremendous potential for gene therapy to cure disease, however it needs (and so far has had) strict regulation, particularly if the changes can be inherited.
Can you share examples...? Just curious as an outsider looking in.
If they were born deaf, or lost hearing as a young child during the language development stage, then it would probably be a long adjustment. Things would just be noise and it would take a lot of training to distinguish sounds, speech, etc. And unlike a cochlear implant, you couldn't just take it off to give your brain a rest.
If they had hearing loss later in life, or some residual hearing, then they probably have a better chance of re-adjusting to hearing.
As for others, one thing hearing people, particularly monolingual hearing people, don't understand very well is that hearing != understanding. Just because you hear a sound doesn't automatically equate to it having meaning. The default for many people is to just SPEAK LOUDER and slower, which does not help in the vast majority of encounters
If you are not accustomed to sounds, they can be annoying, and may make you feel tired. The same can happen with vision, it is just too much, but you can close your eyes, and shut out vision stimuli. You can't do that with hearing. At least if you regain hearing with normal sensitivity, you can be overwhelmed by sounds of your body.
It is easier with implants, which can be shut off.