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
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@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?
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...
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.
To me it's an obvious disability, and deaf people SHOULD want to be cured, but tribalism wins that argument all too often.
I wonder how this compares to animosity towards coclear implants by a subsection of the community
Many deaf/Deaf parents want children who hear. And I think absent the cultural consideration, almost all would want children who hear.
But you can't ignore the cultural consideration. If you are deaf, and have a deaf child, curing that child's deafness means they will move away from you later in life. It's a kind of alienation even when the child remains bicultural, they usually end up almost entirely in the hearing world.
That said, most deaf people who have children have hearing children anyway. Hereditary deafness like that is relatively rare like that.
But for people from such families, and who live in a culturally deaf world -- they are not disabled. The cultural environment they live in is ... one in which deafness is not disabling. And it's going to be a very high hill to climb to convince them that they are missing something. They certainly don't feel it. This is particularly true in the United States which has such a proud tradition of deaf culture and education -- you can go all the way to doctorate level studies in ASL, work in ASL, the hearing world being a strange foreign culture you only rarely wade into -- only rarely need to.
I'd cure it for myself, and my child if I had one. No question. But I'm not culturally deaf. I feel isolated by it in the same way most hearing people anticipate deafness to be as an experience. But again -- people who live in the deaf cultural world -- they do not feel that, and they don't feel disabled because, in their context, they aren't. It's hard to communicate this to most hearing people. The usual response is dismissive, and unfortunately I think a lot of that ultimately goes back to very old metaphysical attitudes towards language and intelligence. A lot of hearing people still don't believe, deep down, that sign languages are equivalent to spoken languages, in particular. It's just gesture. You're lacking something essential to the human condition without spoken language. Etc. But for the culturally deaf, nothing is missing from their lives, except the perception of sound.
I can respect resisting pressure to be part of the hearing world, but there are certainly ways in which deafness impacts one's safety and opportunities. Not being able to hear sirens, or oncoming trucks, or cars honking their horns, or cyclists saying "on your left", or fire alarms makes the world less safe for you (and for others who may have the expectation you can hear them)
I'm certainly not saying this to suggest people should be forced to join the world of the hearing if given the option, but I do think doing so would be the responsible option, if it's a readily available one.
Kind of like I don't expect people to learn other languages than their native tongue, even when it's a language spoken by the majority in their place of residence. But if you don't speak the language spoken by the majority, and are presented with the opportunity to instantly learn it (like "I know Kung Fu"-Matrix style), I certainly think it would be more responsible to do so.
Less important but similar: birdsong, the sound of crashing waves, children laughing in a playground. Hearing brings us much besides transfer of information.
On the other hand, from my brief number of ASL lessons (about a years worth taken as an adult in my mid 20s) the facial expressiveness inherent to ASL gives it something hearing people don't get in normal conversation. But to me that's a pretty small benefit compared to the things a deaf person is missing.
I'd respect anybody who chose not to get treated for themselves, but I think I'd be pretty judgy pretty quickly for anybody who tried to deny or dissuade anybody else from becoming hearing, including their children.
We can and should, the same way we ignore the corresponding "cultural consideration" that mothers who have undergone female genital mutilation themselves will feel alienated from their daughters if they do not inflict the same treatment on them. In this case, most people have no problem recognising that the rights of the daughter to enjoy her own sensory experience far outweigh the (quite real) emotional isolation that would be experienced by the parent -- so why is deafness treated differently?
Denying another person sensory experience is abuse. If that person is a child, it's child abuse. For me the harm inherent in this has nothing to do with whether sign languages are perceived as "real" languages on par with spoken languages. It's obvious to me as a hearing person that sign languages are indeed "real, full" languages, the same way written languages are, and, more generally, the same way that languages I don't personally understand but other people do, are. Sign languages are real, full languages -- and preventing a person who would be able to hear from hearing is still abuse.
I think the reason this is not called out more frequently and stridently by hearing people is that many of us fear being labeled "prejudiced" or worse, and being associated with the political right, who have a long history of making absolute moral claims about outgroups. It's simply an unusual quirk of our times that this specific quality of being seen as culturally presumptuous is the thing that no Right-Thinking Person wants to be seen doing right now, resulting in many otherwise intelligent people bending over backwards to avoid the stigma, even to the point of denying obvious realities like "a life that includes access to more sensory experience is a richer life".
ETA: To anyone who maintains that deaf parents should be able to prevent their children from being able to hear: Should illiterate parents be able to prevent their children from going to school? Should parents who grew up poor be able to starve their children?
What's this defined as? Keeping away from all non-deaf people?
i recently realized that my neighborhood soccer teams arent constantly yelling at eachother about where they are, and that stopping to look for who to pass to is costing us games. i started yelling on their behalf a couple games back and we started shooting and scoring.
somebody who wants to remain deaf, couldnt play soccer at the same level as hearing people because they couldnt hear that information, even though their foot to ball skills might be amazing, and thats a travesty for soccer.
im sure theres lots of things we tend to not think of where hearing is a gigantic advantage, that the deaf arent able to use, and were missing out on their related skills because of it
If a person wishes to not get a certain treatment - fine, that's their right. But when one starts trying to keep others down, that's not ok.
My handicap is handled very well by my hearing aids and everyone should have that opportunity.
It's awesome that it works for some people, just like CI's work for some people(but not all).
Until we can restore hearing(or insert favourite disability here), to everyone, it's going to be controversial inside of those communities, because it makes our already smaller world, smaller. Which causes lots of emotions as you can imagine.
That doesn't mean our world has to be smaller, even now. There are lots of things we can do to make deaf people's worlds bigger(and again, insert any other disability here). We choose not to do them because some people think they are hard, some people think they are expensive and some people think it's not needed.
Perhaps some of that is true, for some items on the massive list.
“Blindness separates people from things; deafness separates people from people.” - Helen Keller
Deafness doesn't have to separate people from people, but it does.
Until we can eradicate XXX disability completely(unlikely) we should as a society strive to make their worlds bigger, not smaller. Sadly so many people don't feel that way, for various reasons.
I'm always amazed that some people still choose to publish in paywalled journals.
Please rename this to "Gene therapy restored hearing in patients with autosomal recessive deafness" so as not to raise and then dash hopes of deaf HN readers
