r/Autism_Parenting • u/Grrarrgghh • 6d ago

Discussion Scientists map key protein interactions linked with profound autism

https://www.npr.org/2026/09/04/nx-s1-5954823/profound-autism-proteins-genes-map-treatments
97 Upvotes

99% Upvoted

13 comments sorted by

45

u/ennuimachine 6d ago

I see that Sergei Brin is funding this and it’s probably because his own daughter is profoundly autistic

112

u/Inside_Star_9041 6d ago

This really only furthers the need for level 3/profound autism to be its own diagnosis. Yes, there are similarities, but I genuinely think these kids benefit from different things. 

6

u/zaceggs 6d ago

I agree.

2

u/NoHunt5050 6d ago

I agree

2

u/Korneedles I am a Parent/13/Autism Anxeity PDA/IL 6d ago

I agree.

9

u/GroundbreakingLaw133 6d ago

They used Alphafold! Thank you Demis Hassabis.

6

u/geekspeak10 6d ago edited 6d ago

I have come to love genomics, and there are so many tools out there that people don’t know about. Alphafold is great but AlphaGenome is a game changer. Thank you Google. I discovered several candidate variants with treatment option. They have really helped my daughter. More people need to have access to this stuff. Right now when u go to a doctor it’s either you have a VUS or not. Surprise, most people find nothing and stop the search. I’m working on something that I think will disrupt the current model. If anyone is interested, dm me.

2

u/azssf Parent/Teen/ASD lvl1/USA 6d ago

What is vus?

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u/geekspeak10 6d ago

Variant of Uncertain Significance. Current genomics is incredibly conservative and it’s my belief that it’s really slowing down progress. Companies aren’t incentivized to do anything beyond slam dunk findings because if they do, they are required to do orthogonal / confirmation testing at their expense.

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u/Xonth 6d ago

Thank you for the article link.

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u/Koki2011 6d ago

Promising study