Autism mutations drive neurodevelopmental pathology
1–10 of 199 posts
Re: Autism mutations drive neurodevelopmental pathology
#2I'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?
Re: Autism mutations drive neurodevelopmental pathology
#3I'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…
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.
Re: Autism mutations drive neurodevelopmental pathology
#4I'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…
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.
Brave to say on one of the most autistic web forums that autistic people have something that's broken :|
Re: Autism mutations drive neurodevelopmental pathology
#5I'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…
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
Re: Autism mutations drive neurodevelopmental pathology
#6autism researcher here. I have not yet read this study. It will not be the kind of paper that many, including myself, can read quickly and understand. Autism is a multi-disciplined science, so there is a lot to understand. However, my initial sense from reading the abstract is that this paper might be a really really big deal and incredible new resource.
General problem statement: Many different genetic variants are associated with autism, some strongly, most very weakly. Many have suspected that this plethora of genetic variants might converge onto a smaller set of biological pathways affecting neurodevelopment in ways that results in an autism phenotype or phenotypes. This has been our hope, because the alternative scares the hell out of a scientist. The saying goes that if you met one person with autism, you've met one person with autism...meaning there is a ton of heterogeneity within the autism spectrum, even if a certain set of core autism symptoms are displayed. So there was a existential crisis that there is no "autism", just a billion autisms, where your sample size is always N=1. By demonstrating evidence that many variants converge on the same biological pathways, there is hope that understanding autism is tractable.
Re: Autism mutations drive neurodevelopmental pathology
#7I'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…
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.
Re: Autism mutations drive neurodevelopmental pathology
#8I'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…
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.
I for once enjoy the glitches in my signal mixing module, don't want nothing to fix there.
Re: Autism mutations drive neurodevelopmental pathology
#9autism researcher here. I have not yet read this study. It will not be the kind of paper that many, including myself, can read quickly and understand. Autism is a multi-disciplined science, so there is a lot to understand. However, my initial sense from reading the abstract is that this paper might be a really really big deal and incredible new resource. General problem statement: Many different genetic variants are…
I thought the US government had just decided that the cause of autism was vaccines
Re: Autism mutations drive neurodevelopmental pathology
#10Earlier quoted context omitted.
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.
Brave to say on one of the most autistic web forums that autistic people have something that's broken :|
This isn't /g/ what are you talking about?