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Unwanted DNA: probable cause for autism?

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Scientists from the Simons Foundation, a private foundation based in New York City, propose that a new cause of autism could be found in ‘junk’ DNA. Which relates the neurodevelopmental condition to mutations in the non-coding regions of the human genome, according to the study “Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk”. On this study, the application of AI found that mutations in so-called ‘junk’ DNA can lead to autism.

The study’s findings functionally link specific mutations to autism and indicates a connected between non-inherited, non-coding mutations and what is a complex human disorder. The scientists deployed machine learning to assess the whole genomes of 1,790 individuals identified autism. The data was compared to the unaffected parents and siblings of the test subjects. With each of the individuals tested, there had been no family history of autism. This led to the hypothesis that the genetic cause of their autism was connected to spontaneous mutations rather than being the consequence of inherited mutations.

Notwithstanding that ASD research still has a long way to go, there are tools and treatments to improve the quality of life of individuals with autism: stem cell therapy, for example, provides patients with autism spectrum disorder a remarkable improvement in most cases.

Article link: https://www.nature.com/articles/s41588-019-0420-0
Source: http://www.digitaljournal.com/tech-and-science/science/new-cause-of-autism-unwanted-dna/article/552166

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