Current state of autism brain and genetics research

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I just now watched the following video of a lecture at the headquarters of the Simons Foundation, which is the biggest private source of funding for autism biological research here in the U.S.A.:

- Autism, Autisms, or Neurodevelopmental Disorders? - a lecture by Jason Lerch, Ph.D. (Director of Preclinical Imaging, Wellcome Centre for Integrative Neuroimaging, University of Oxford, and Associate Professor in Medical Biophysics, University of Toronto), January 29, 2020.

Here's a brief summary of what seemed to me to be the most important points:

Autism is an extremely heterogeneous, arbitrarily-defined category. Autism is not one single, well-defined condition. There are many, many different autisms, each of which is a very rare condition.

There is no one specific brain abnormality that can be nailed down as the cause of autism. Various small studies have seemed to indicate that there were such brain features, but they have been contradicted both by other small studies and by larger studies.

There is more variation among autistic brains than there is (averaged) difference between autistic brains and NT brains. There is also no reliable way to tell the difference amongst autistic brains, ADHD brains, and OCD brains, all of which differ from NT brains but in no one reliable specific way. Dr. Lerch questions whether, on a biological level, it make sense to study "autism" as a distinct category at all, apart from "neurodevelopmental disorders" in general.

As for genes, there are a few hundred different genes that have been identified as autism "risk factors." But such genes have been identified, so far, in only about 30% of autistic people whose DNA has been obtained for research purposes. It is likely that the remaining 70% of autistic people have genetic "risk factors" too, because autism does tend to run in families, but the relevant genes have not been identified yet.

Although Dr. Lerch uses mostly medical model terminology and avoids the neurodiversity paradigm, in a speech hosted by a private foundation funded by the world's wealthiest curebie, his overall message is very bad news for anyone hoping for a "cure" for autism.

Thanks for the link however I don’t see any reason for pessimism, it helps if you watch their earlier intro lecture on autism genetics to get a better picture of the goal (see link at 54min how the large no of genes implicated is a potential strength)

https://m.youtube.com/watch?v=nz7zAMyZVLk

Basically, they are building a large roadmap of all genes implicated in neurodevelopmental / mental disorders and things effecting those genes. It won’t be done in a day or a year but it is inevitable that it will be done.

The human genome of 3.3 billion base pairs was only mapped out in 13 years in 2003, so its early days.

Some takeaways over the two videos though mostly bad disturbing news for advocates:

1. It’s practically impossible to isolate a "pure autism" from the co morbids inc other unpleasant disorders since autism is a smorgasbord of a combination and load of faulty genes.

This makes it harder for advocates to protect as a single entity, meaning at what point does the inevitable removing of the genetic elements of autism does autism stop being autism?.

In the future all implicated genes will be dealt with separately either via editing or other treatment to target the relevant faults. They can join up and be ignored with the religious crazies and campaign against genetic research altogether especially against mental illness in general with its huge individual and societal burden with i.e. depression/ anxiety, Schizophrenia and other nasties, good luck with that lol

2. There are more than one type of autisms so it looks like the diagnosis label "autism" days are numbered as genetic medicine takes over 20th cen medical terminology and the diagnosis are split up.

3. Changing whole Genes themselves are not always the full story anyway but regulating them when they fail through drug treatments

4. It’s clear from both videos that autism is an obvious genetic disorder, basically from the looks of it with autism you buy the skunk you buy the smell too, so you cant have autism without all the included genetic defects that have a bad effect on the person, which is not a natural welcome difference in the human genome. This of course was always common sense to anyone seeing a nonverbal boy headbutt the wall and eat his arm, while his peers are outside playing football in the sun.

5. In fact as autism is so intertwined with other disorders, they could give up targeting autism specifically and still eventually find it with its potential treatment options on the genetic road map of mental disorders.