This entry delves into the latest findings in genomic research concerning autism spectrum disorder (ASD), drawing attention to the intricate relationship between ASD’s genetic and environmental causes. In this entry, we delve into how whole-genome sequencing (WGS) and whole-exome sequencing (WES), two examples of current sequencing technology, have utterly transformed our comprehension of the genetic basis of ASD. Key findings about the heritability of ASD, which varies between 65% and 90%, and the discovery of common and unusual mutations that cause the disorder are covered in this entry. Key synaptic function and neurodevelopment genes, including SHANK3, CHD8, and CACNA1C, are investigated. In addition to genes and their environments, the review highlights epigenetics and gene–environment interactions as key players in the etiology of ASD. Personalized therapy options are highlighted as the discussion centers on the significance of these genetic results for early diagnosis and targeted medicines. In its last section, this entry discusses ethical concerns surrounding autism genomics, such as genetic prejudice, informed consent, and fair access to genetic testing. This entry stresses the need for a multidisciplinary strategy merging genomes with behavioral science, neurology, and environmental research to further our knowledge of ASD and aid those impacted.

错误:搜索内容不能为空,请输入英文关键词
错误:关键词超出字数限制,请精简
高级检索

Genomic Research About Autism

  • Elham Amjad,
  • Babak Sokouti

摘要

This entry delves into the latest findings in genomic research concerning autism spectrum disorder (ASD), drawing attention to the intricate relationship between ASD’s genetic and environmental causes. In this entry, we delve into how whole-genome sequencing (WGS) and whole-exome sequencing (WES), two examples of current sequencing technology, have utterly transformed our comprehension of the genetic basis of ASD. Key findings about the heritability of ASD, which varies between 65% and 90%, and the discovery of common and unusual mutations that cause the disorder are covered in this entry. Key synaptic function and neurodevelopment genes, including SHANK3, CHD8, and CACNA1C, are investigated. In addition to genes and their environments, the review highlights epigenetics and gene–environment interactions as key players in the etiology of ASD. Personalized therapy options are highlighted as the discussion centers on the significance of these genetic results for early diagnosis and targeted medicines. In its last section, this entry discusses ethical concerns surrounding autism genomics, such as genetic prejudice, informed consent, and fair access to genetic testing. This entry stresses the need for a multidisciplinary strategy merging genomes with behavioral science, neurology, and environmental research to further our knowledge of ASD and aid those impacted.