Аутизмът – из палеогенетичните летописи на секвенираните човешки геноми

Милен Замфиров; Димитър Кенанов

doi:10.60059/SPL.2025.2.20-32

Authors

Milen Zamfirov Sofia University "St. Kliment Ohridski"
Dimitar Kenanov Agency for Science, Technology and Research (A*STAR) - Singapore

DOI:

https://doi.org/10.60059/SPL.2025.2.20-32

Keywords:

autism, genome sequencing, vaccines, screen addiction, paracetamol

Abstract

This article presents a study based on an analysis of sequenced human genomes from both Bulgaria and around the world, drawn from various databases, with the aim of either confirming or refuting several widely held hypotheses regarding the causes of autism. The hypothesis that individuals with autism constitute a certain percentage of live-born children worldwide is also examined and investigated. Data from the David Reich Lab, which provides genotypes and single-nucleotide polymorphisms (SNPs) for ancient and modern individuals at up to 1.23 million positions in the human genome (hg19 coordinates), from NCBI dbSNP, providing information on SNPs and their annotation, NCBI ClinVar, which provides clinical data on human genetic variations, and SFARI GENE, which contains data on genes and their association with autism. The relevant conclusions were drawn.

Author Biographies

Milen Zamfirov, Sofia University "St. Kliment Ohridski"

Professor, DSc. Faculty of Educational Sciences and Arts.

Head of the Center with an Autism Research Laboratory .

Scientific interests in the areas of autism spectrum disorders, science and mathematics education of students with special educational needs.

Milen Zamfirov was awarded in 2024 with the highest scientific prize in Bulgaria “Pythagoras” for being a distinguished scientist in the humanities and the social sciences.

Number of publications: over 300.

Address: 1574 Sofia, 69A Shipchenski Prohod Str.

E-mail: m.zamfirov@fppse.uni-sofia.bg
Dimitar Kenanov, Agency for Science, Technology and Research (A*STAR) - Singapore

Senior Scientist, Dr.

Work on Pathway analysis using elementary flux modes analysis.

Number of publications: over 20.

Address: 30 Biopolis Street, #07-01 Matrix, Singapore 138671.

E-mail: dimitark@a-star.edu.sg

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