| ▲ | kayo_20211030 2 hours ago |
| I'm interested - for reasons. Does anyone have a sense of what this study means in a practical or actionable sense? In toto, the conclusion of the paper: > Together, these findings define a dual-layered model of molecular convergence in ASD: convergence through shared interaction networks in the wild-type state and convergence through recurrent functional consequences of interaction rewiring in the mutant state. More broadly, this work establishes a scalable framework for systematic interrogation of the autism proteome, enables prioritization of druggable protein interfaces, and provides a rational foundation for precision therapeutic strategies aimed at restoring neurodevelopmental trajectories. I have no grounding here. Does anyone want to have a go at teasing the meaning out? |
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| ▲ | randomImmigrant an hour ago | parent | next [-] |
| Here’s how I’m thinking about it (still digging into the details): across genomics, it’s become clear few traits have clear traceability to a few loci in the genome. Instead, evidence has been growing that epistasis, the nonlinear interaction between genes and other genomic regions, predominates in explanations of most phenotypes. What this paper does is show where upstream of the genome various combinations of mutations can interact to cause damage during development, thus leading to the phenotype. Rather than correcting a particular mutation, or targeting drugs to their protein products, we may find downstream protein-protein interactions that are strong drivers of the phenotype, and hopefully find ways to prevent/reverse these effects. |
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| ▲ | AndrewDucker an hour ago | parent | prev | next [-] |
| Nothing yet. This is incredibly preliminary, with lots of this being tested in frogs. It hopefully gives hints which will be tested,better understood, and show actual mechanisms in humans. But probably not for years. |
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| ▲ | klipt 33 minutes ago | parent [-] | | Dr: I have good news and bad news Patient: What's the good news? Dr: We have a two step treatment to improve your social-emotional life. Patient: What's the bad news? Dr: The first step is, we have to turn you into a frog... |
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| ▲ | slantedview an hour ago | parent | prev | next [-] |
| There's a CNN article that has some expert quotes for context, but isn't quite as in depth as the study itself: https://archive.ph/yBiM8 |
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| ▲ | rickydroll an hour ago | parent | prev [-] |
| I interpret it as they think they can find treatments that will course-correct the development of a child, but they're not saying anything about fixing something that's already broken. |
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| ▲ | Muromec an hour ago | parent | next [-] | | I for once enjoy the glitches in my signal mixing module, don't want nothing to fix there. | | | |
| ▲ | forestrywat an hour ago | parent | prev | next [-] | | What do you mean "broken"? Autistic folks are not broken. | | |
| ▲ | djaro an hour ago | parent | next [-] | | Autism is a disability. The function of the brain to normally process social cues is broken. In the same way someone who is blind has broken vision, someone in a wheelchair has broken legs, and someone with ADHD has broken executive function. This isnt a moral judgement, theres nothing wrong with being disabled, but it remaims a disability that many people struggle due to. | | |
| ▲ | hoppp a few seconds ago | parent [-] | | The disability exists when compared to neurotypicals but does not necessarily exist when compared to other autists. As a comparison, if you put a bonobo with chimps the bonobo will be severely disabled socially, but it won't be when compared to other bonobos. The fact that autists can communicate with each other does not fit typical models of disability. A blind person should be blind to another blind person. |
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| ▲ | mapontosevenths 22 minutes ago | parent | prev | next [-] | | Some autistic people have to wear helmets and spend all day rocking back and forth eating anything they find in the carpet. The are unable to care for themselves and depend fully on others. These people are not operating within the nominal range of human behavior that might be classified as "functional." Only 20-30% of adult Autistics can even hold a job. Not a 'good' job, mind you, ANY job. | |
| ▲ | nick__m 27 minutes ago | parent | prev | next [-] | | There a point on the spectrum where someone cannot function without supervised housing and another one where you have non verbal autistic folks. But I agree broken is not the right word for those poor folks because they were never functional to begin with! | |
| ▲ | raducu an hour ago | parent | prev [-] | | Nobody said they were, but broken in terms of neurotypical circuitry, yes |
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| ▲ | kelseyfrog an hour ago | parent | prev [-] | | Brave to say on one of the most autistic web forums that autistic people have something that's broken :| | | |
| ▲ | SubiculumCode an hour ago | parent | next [-] | | Autism is a spectrum. Neurodiversity within and outside of autism is both intrinsically valuable and extrinsically valuable to society. However, not all phenotypes of autism should be viewed as neurodiversity, but as harmful. There is only so much that society can do to make severe intellectual impairments less disabling without identifying a cure for the intellectual impairment. The debate between medical versus disability models, neurodiversity versus pathology, inevitably gets pushed by those that want to classify everything into clean essentialist boxes, but that, I do not believe, is a helpful way to view the world. Not every condition is a pathology, nor is every condition benign if only society would do more to make it less disabling. | |
| ▲ | djaro an hour ago | parent | prev | next [-] | | I mean, it's classified as a disability for a good reason. I would guess that even if this platform has more autistic people due to being tech focused, autistic tech nerds and programmers are on the extreme end of high-functioning. Many low-functioning autistic people will never be able to have a job or live by themselves. This is the same issue as high-functioning ADHD'ers saying "ADHD is my superpower", meanwhile people with severe ADHD do significantly worse than the general population in basically any metric, up to having a lower life expectancy. This isnt to say its morally bad, theres nothing wrong with being autistic or having ADHD, but it is a disability. Just like someone who's deaf can live a totally happy life but still be disabled because they are not able to hear, someone with autism is disabled because they are not able to process social cues at the same speed, even if they are a great person and have a good life. | | |
| ▲ | forestrywat an hour ago | parent | next [-] | | "Have a disability" and "broken" are not synonyms. There's no judgement or moralizing in having a disability. Autism and ADHD like you mentioned are disabilities. But the people who have them are not broken. Having a disability means some part of your life is more difficult. But that's very very different from you as a person are broken. For example, if you can fix the environment and the person can now function equally to someone without a disability, then maybe it's the environment that's broken. If you can fix the social expectation and suddenly the person can function equally, then maybe the society is broken. Even if you cannot accommodate the person's needs, insinuating they are broken is not a great framing -- it creates a sense of pity rather than constructively looking at means to support them. | | | |
| ▲ | seanhandley an hour ago | parent | prev | next [-] | | It depends, and that’s the point. It’s such a wide concept. Essentially it boils down to how a brain processes sensory information and at what point it becomes overwhelmed. We all have tolerances set at different gauges. It’s a disability if it’s at odds with the environment a person finds themselves in. | |
| ▲ | iinnPP an hour ago | parent | prev [-] | | The problem is assuming the social cues are important at this point in evolution. I'd say the opposite is true, frankly. I'm more worried about people's inability to follow simple instructions, like making a hamburger correctly. |
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| ▲ | krapp an hour ago | parent | prev [-] | | This isn't /g/ what are you talking about? |
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