Posted by justacrow 3 days ago
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.
Some might also use protein folding simulations, and the best ways to do that involve narrow AI.
I'd love to hear from somebody in the medical research field how much AI/ML actually speeds up their progress.
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?
https://usegalaxy.org is pretty remarkable and provides access to a ton of open source bioinformatics tools + compute to process the files.
I really think the $1200 20x pacbio from broad is worth it if you are going to make it serious hobby.
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.
"The most notable obstacle faced in the gene therapy field was that of Gelsinger in 1999, who is understood to have died after his body overreacted to the adenovirus vector. Gelsinger had a rare disorder in which the liver lacks a functional copy of the ornithine transcarbamylase (OTC) gene and, consequently, the body is unable to eliminate ammonia, a toxic breakdown product of protein metabolism."
"A gene therapy for children with severe combined immunodeficiency (SCID) was delivered [to two independent groups in London and Paris] and was incredibly successful,” explains Griesenbach. “But, [in 2008; between three and six years later], a small proportion of children [in Paris] developed leukaemia induced by the vector, which had inserted itself into a gene that controls cell division [4] .”
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.