Precision Autism: Genomic Stratification of Disorders Making Up the Broad Spectrum May Demystify Its “Epidemic Rates”

In the last decade, Autism has broadened and often shifted its diagnostics criteria, allowing several neuropsychiatric and neurological disorders of known etiology. This has resulted in a highly heterogeneous spectrum with apparent exponential rates in prevalence. I ask if it is possible to leverage...

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Autor principal:	Elizabeth B. Torres
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	Autism genes tissues stratification neurodevelopment neurological disorders Medicine R
Acceso en línea:	https://doaj.org/article/8f642068c2764890a3f93eee6b0703c4
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spelling	oai:doaj.org-article:8f642068c2764890a3f93eee6b0703c42021-11-25T18:07:21ZPrecision Autism: Genomic Stratification of Disorders Making Up the Broad Spectrum May Demystify Its “Epidemic Rates”10.3390/jpm111111192075-4426https://doaj.org/article/8f642068c2764890a3f93eee6b0703c42021-10-01T00:00:00Zhttps://www.mdpi.com/2075-4426/11/11/1119https://doaj.org/toc/2075-4426In the last decade, Autism has broadened and often shifted its diagnostics criteria, allowing several neuropsychiatric and neurological disorders of known etiology. This has resulted in a highly heterogeneous spectrum with apparent exponential rates in prevalence. I ask if it is possible to leverage existing genetic information about those disorders making up Autism today and use it to stratify this spectrum. To that end, I combine genes linked to Autism in the SFARI database and genomic information from the DisGeNET portal on 25 diseases, inclusive of non-neurological ones. I use the GTEx data on genes’ expression on 54 human tissues and ask if there are overlapping genes across those associated to these diseases and those from SFARI-Autism. I find a compact set of genes across all brain-disorders which express highly in tissues fundamental for somatic-sensory-motor function, self-regulation, memory, and cognition. Then, I offer a new stratification that provides a distance-based orderly clustering into possible Autism subtypes, amenable to design personalized targeted therapies within the framework of Precision Medicine. I conclude that viewing Autism through this physiological (Precision) lens, rather than viewing it exclusively from a psychological behavioral construct, may make it a more manageable condition and dispel the Autism epidemic myth.Elizabeth B. TorresMDPI AGarticleAutismgenestissuesstratificationneurodevelopmentneurological disordersMedicineRENJournal of Personalized Medicine, Vol 11, Iss 1119, p 1119 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Autism genes tissues stratification neurodevelopment neurological disorders Medicine R
spellingShingle	Autism genes tissues stratification neurodevelopment neurological disorders Medicine R Elizabeth B. Torres Precision Autism: Genomic Stratification of Disorders Making Up the Broad Spectrum May Demystify Its “Epidemic Rates”
description	In the last decade, Autism has broadened and often shifted its diagnostics criteria, allowing several neuropsychiatric and neurological disorders of known etiology. This has resulted in a highly heterogeneous spectrum with apparent exponential rates in prevalence. I ask if it is possible to leverage existing genetic information about those disorders making up Autism today and use it to stratify this spectrum. To that end, I combine genes linked to Autism in the SFARI database and genomic information from the DisGeNET portal on 25 diseases, inclusive of non-neurological ones. I use the GTEx data on genes’ expression on 54 human tissues and ask if there are overlapping genes across those associated to these diseases and those from SFARI-Autism. I find a compact set of genes across all brain-disorders which express highly in tissues fundamental for somatic-sensory-motor function, self-regulation, memory, and cognition. Then, I offer a new stratification that provides a distance-based orderly clustering into possible Autism subtypes, amenable to design personalized targeted therapies within the framework of Precision Medicine. I conclude that viewing Autism through this physiological (Precision) lens, rather than viewing it exclusively from a psychological behavioral construct, may make it a more manageable condition and dispel the Autism epidemic myth.
format	article
author	Elizabeth B. Torres
author_facet	Elizabeth B. Torres
author_sort	Elizabeth B. Torres
title	Precision Autism: Genomic Stratification of Disorders Making Up the Broad Spectrum May Demystify Its “Epidemic Rates”
title_short	Precision Autism: Genomic Stratification of Disorders Making Up the Broad Spectrum May Demystify Its “Epidemic Rates”
title_full	Precision Autism: Genomic Stratification of Disorders Making Up the Broad Spectrum May Demystify Its “Epidemic Rates”
title_fullStr	Precision Autism: Genomic Stratification of Disorders Making Up the Broad Spectrum May Demystify Its “Epidemic Rates”
title_full_unstemmed	Precision Autism: Genomic Stratification of Disorders Making Up the Broad Spectrum May Demystify Its “Epidemic Rates”
title_sort	precision autism: genomic stratification of disorders making up the broad spectrum may demystify its “epidemic rates”
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/8f642068c2764890a3f93eee6b0703c4
work_keys_str_mv	AT elizabethbtorres precisionautismgenomicstratificationofdisordersmakingupthebroadspectrummaydemystifyitsepidemicrates
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Precision Autism: Genomic Stratification of Disorders Making Up the Broad Spectrum May Demystify Its “Epidemic Rates”

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