自闭症谱系障碍
自闭症
基因组学
鉴定(生物学)
脆弱性(计算)
精神分裂症(面向对象编程)
心理学
生物
神经科学
遗传学
基因组
基因
精神科
计算机科学
计算机安全
植物
作者
Devanand S. Manoli,Matthew W. State
标识
DOI:10.1176/appi.ajp.2020.20111608
摘要
Recent progress in the identification of genes and genomic regions contributing to autism spectrum disorder (ASD) has had a broad impact on our understanding of the nature of genetic risk for a range of psychiatric disorders, on our understanding of ASD biology, and on defining the key challenges now facing the field in efforts to translate gene discovery into an actionable understanding of pathology. While these advances have not yet had a transformative impact on clinical practice, there is nonetheless cause for real optimism: reliable lists of risk genes are large and growing rapidly; the identified encoded proteins have already begun to point to a relatively small number of areas of biology, where parallel advances in neuroscience and functional genomics are yielding profound insights; there is strong evidence pointing to mid-fetal prefrontal cortical development as one nexus of vulnerability for some of the largest-effect ASD risk genes; and there are multiple plausible paths forward toward rational therapeutics development that, while admittedly challenging, constitute fundamental departures from what was possible prior to the era of successful gene discovery.
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