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Roadmap to Help Develop Personalized Targeted Treatments for Autism as a Disorder of the Nervous Systems

Torres, E. B.

2020-06-02 genomics
10.1101/2020.06.01.127597 bioRxiv
Show abstract

There is a disconnect between the clinical behavioral definition of autism and the genomic science that this definition largely informs and steers. But the digital sensor revolution paired with open access to genomics data has the potential to bridge the gap between these two layers of knowledge. Here we use the SFARI genes module and interrogate the human genome upon removing those genes. We then compare the remaining genes expression on tissues responsible for brain, heart and organs function to its counterpart in well-known neurological disorders of genetic origins. Despite clinical criteria emphasizing a behavioral definition of Autism, over a neurological one, here we find convergence between Autism and the neurological disorders. Tissues involved in motor control, emotions and memory are the most affected by the removal of the SFARI Autism genes. Congruent with this picture, the Ataxias, Parkinsons disease and Fragile X share 76.9% of the most affected tissues, including those related to motor control and autonomic function, while mitochondria disorder share 61.5% with autism. Together, these results offer a new roadmap to help diagnosis and personalized targeted treatments of autism. They underscore Autism as an objectively quantifiable disorder of the nervous systems.

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