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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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Detalles Bibliográficos
Autor principal: Torres, Elizabeth B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8620644/
https://www.ncbi.nlm.nih.gov/pubmed/34834471
http://dx.doi.org/10.3390/jpm11111119
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author Torres, Elizabeth B.
author_facet Torres, Elizabeth B.
author_sort Torres, Elizabeth B.
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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.
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spelling pubmed-86206442021-11-27 Precision Autism: Genomic Stratification of Disorders Making Up the Broad Spectrum May Demystify Its “Epidemic Rates” Torres, Elizabeth B. J Pers Med Article 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. MDPI 2021-10-30 /pmc/articles/PMC8620644/ /pubmed/34834471 http://dx.doi.org/10.3390/jpm11111119 Text en © 2021 by the author. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Torres, Elizabeth B.
Precision Autism: Genomic Stratification of Disorders Making Up the Broad Spectrum May Demystify Its “Epidemic Rates”
title 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_short 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”
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8620644/
https://www.ncbi.nlm.nih.gov/pubmed/34834471
http://dx.doi.org/10.3390/jpm11111119
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