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The world's largest autism genome database shines new light on many 'autisms'
The newest study out of the Autism Speaks MSSNG project – the world's largest autism genome sequencing program – identified an additional 18 gene variations that appear to increase the risk of autism. The new report appears this week in the journal Nature Neuroscience. It involved the analysis of 5,205 whole genomes from families affected by autism – making it the largest whole genome study of autism to date.
[...] To date, research using the MSSNG genomic database has identified 61 genetic variations that affect autism risk. The research has associated several of these with additional medical conditions that often accompany autism. The goal, Dr. Pletcher says, "is to advance personalized treatments for autism by deepening our understanding of the condition's many subtypes." The findings also illustrate how whole genome sequencing can guide medical care today. For example, at least two of the autism-associated gene changes described in the new paper are also associated with seizures. Another has been linked to increased risk for cardiac defects, and yet another with adult diabetes. These findings illustrate how whole genome sequencing for autism can provide additional medical guidance to individuals, families and their physicians, the investigators say.
Found at ScienceDaily.
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder (DOI: 10.1038/nn.4524) (DX)
(Score: 0) by Anonymous Coward on Wednesday March 08 2017, @05:52PM (1 child)
Thank you for making me dig more deeply into the paper. This one is even worse than I expected. This paper wasn't even just about finding correlations and implying causation, but about finding correlations that could be monetized in the form of pharmaceutical "treatments." As usual, look at the conclusion/discussion.
Second, 80% of the 61 ASD-risk genes on our refined list are connected in networks representing potential targets for pharmacologic intervention19. Sixteen genes contained subdomains that could be targeted by pharmaceutical intervention and seven contained subdomains for which specific drug–gene interactions are known. ....Additionally, the focus here was on gene products that could be pharmacologically modulated...
Yay for the mixing of profit (or grant) motives into already very dubious "science." Perhaps instead of splitting since into two we need to quarter it: correlational without profit motive, correlational with profit motive, principled with profit motive, principled without profit motive. This [sciencealert.com] is a relevant article hitting on all these issues going back to Peter Higg's comment a few years back that he would not have been "productive" enough to be succesful in today's "academic" culture. Apologies for the excessive use of double quotes, but I really feel like these words while ostensibly accurate are really more of euphemisms for what science is rapidly becoming. It's frankly depressing.
(Score: 0) by Anonymous Coward on Thursday March 09 2017, @02:07AM
moron.