Thread

1. mlboss · 1789596855 · focus · HN ↗

   > Autism is genetic. You’re born autistic and you’re autistic for life. Most autistic people are autistic because of genes they got from their parents. This is why autism often runs in families. Much less commonly, other factors can play a role, but usually in combination with genes from parents. There isn’t a single ‘autism gene’. Thousands of genes combine to make a person autistic. Scientists have identified many of these genes, but they think there are still many more to find. And there is no genetic test for autism. We don't fully understand how genes combine to make a person autistic. It is complex and no simple test can give an accurate answer. Genetic testing cannot predict whether a child will be autistic or not, and it can’t be used to diagnose someone as autistic.

   Autism is genetic but we cannot do genetic testing and prove that you have autism. Seems like a very circular reasoning.

   1. DoctorOetker · 1789597095 · focus · HN ↗

      can't wait until large scale datasets and LLM powered studies either debunk or confirm and quantify the effects objectively.

      1. DoctorOetker · 1789608489 · focus · HN ↗

         not sure why the downvotes?

         I predict it would be possible to quantify the effects objectively, as a thought experiment: assuming functional proteins, gene regulation is about binding affinities of cellullar chemical species to promoter regions, so 200k promoter regions x number of chemical species present in humans give us the number of binding affinities that describe the behavior of human cells (essentially all cell types excluding some germ-line cells, but including brain cells).

         the thought experiment: apart from ethics nothing prevents humanity from going to all the remaining wild-type or near wild-type humans (when did 5% of the local population start wearing glasses? as a measure of wild-type-ness), and collecting as many individual genomes as possible, for a reference data set for the table of binding affinities. For each individual genome there is 1 table of binding affinities. Now we start averaging the value of each location in the table by averaging this table over all the collected genomes.

         So theoretically we could collect the bulk of the gene regulatory information / skills encoded in the genome for wild-type humans. Next we can traverse the medical literature on autism and collect all the reported or suggested features, survey answers, diagnostic indicators for the full autism spectrum, and for each population in such a separating indicator, fetch example genomes from the purported indicated and unindicated groups, and compare their averaged binding affinity tables until you resolve or exclude any genetic correlation.

         Or people downvote because I can't wait for science to ... progress?

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