[cupcake-unicorn]

I'm autistic. Have you considered doing a study using whole geneome sequencing? I had my genome sequenced to try to get to the bottom of what's going on for me (outside of autism) and after running some data mining on it lo and behold, shows a very high correlation between genes associated with autism.

One thing that I don't see talked about a lot is the link between autism and parkinsons.(https://pubmed.ncbi.nlm.nih.gov/26322138/) My maternal grandmother and mother had Parkinson's and I'm sure my grandmother and her sister were on the spectrum as well (although they didn't really diagnose that form of autism back then). This may link into the subtype of autism you're talking about though with autoimmune as my mother has celiac and I have HLA mutations.

Also noticed you were talking Amygdala Volume , but have you seen this? https://pubmed.ncbi.nlm.nih.gov/28689329/ This really makes me think about your paper because it's linking specifically right sided decrease of Amygdala Volume to a form of autism with anxiety. This makes me think about how autism is often missed in girls. I'm aware of this fact because I also have the right sided decreased volume after uploading a Brain MRI here: brainkey.ai . This, along with Whole Genome Sequencing (I got mine done at nebula.org) could really set the stage for wider studies at a fairly low cost.

Anyway thanks so much

[SubiculumCode]

The Autism Phenome Project has collected genetic data from all participants. Whole genome sequencing is starting to be processed. Getting funding was a bit tricky, somewhat surprisingly. The issue is N. We have a good sized cohort generally, but genetic analyses often require very large samples...mostly because individual genes only contribute small increases in risk for autism. Right now we are hoping to take a approach of looking for rare variants that have outsized effects.

Autism and Parkinson's: I had not known that. My grandmother also has Parkinson's. Thanks for the link. I will say that autism is a fairly new diagnosis, and thus not many with an autism diagnosis are old enough yet to get obvious Parkinson's. However, this and other aging topics WILL be a very hot topic of autism research in the next 20 years.

Thanks for the paper link. We think so too, at least in part. I point you to this paper [1], where we used Fear Potentiated Startle in Children With Autism: Association With Anxiety Symptoms and Amygdala VolumeWe have another paper that is under review that specifically looks at types of anxiety (DSM vs distinct anxiety) and amygdala development. Unfortunately, I don't have a shareable version yet.

[1] https://www.researchgate.net/publication/347985459_Fear_Pote... ]

[cupcake-unicorn]

Is there any way I can contribute my WGS data? I'll request it on researchgate! Thanks so much! I have always had an insane startle response since I was a child, to the point that I'd scream and fall out of a chair if my parents entered the room and said hello when I was in the middle of something! From what I understand with these papers children are born with the decreased amygdala volume. I feel like the other part of it is going through life with severe anxiety, autism, and fearfulness and the negative reactions to it are just a vicious cycle.

[SubiculumCode]

Thank you for the kind offer. There may indeed be repositories out there to which you could contribute. In terms of the autism phenome project, probably not. For one, the deep phenotyping we do (i.e. collect a lot of data) is a critical component, Also, there is actually a fair amount of variability in the methods to doing DNA sequencing (not an expert), that could pose issues. But again, thank you for the kind offer.

[cupcake-unicorn]

No problem. I'm not sure of other places, but the cost to me was 300 dollars out of pocket at Nebula.org. They use 30x sequencing which is considered clinical grade and they also offer 100x sequencing, but from what I understand this is pretty much overkill. You can use software to see the areas that had worse coverage if there are any questions.

If you were doing this at scale I'm not sure what Nebula.org offers past some app stuff. All of the useful information I got on my own through using Exomiser/Enrichr on the raw data, although Nebula does have an interesting part to it where you can see where you fall in terms of risk SNPs in terms of percentile to other users (I got 90% on their Systematizing/Autism one there: https://nebula.org/blog/genetics-of-systemizing-in-autism/). When I shipped my sample they used the lab AKESOgen to do the work of sequencing, so maybe you could contact them directly if you had any questions about projects like this.