Gene hunting in autism spectrum disorder: on the path to precision medicine.
Gene hunting in autism spectrum disorder: on the path to precision medicine.
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DOI：
10.1016/s1474-4422(15)00044-7
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发表时间：
2015-11
期刊：
影响因子：
--
通讯作者：
State MW
中科院分区：
文献类型：
--
作者：
Geschwind DH;State MW
自闭症谱系障碍是大多数神经精神综合征的典型特征，因为它是由体征和症状而不是病因来定义的。毫不奇怪，这种复杂的人类状况的原因是多方面的，包括大量的遗传成分。基因狩猎技术和方法的最新发展，以及由此产生的大量遗传发现，有望为理解疾病病理生理学开辟新的途径，并有助于改善临床管理。尽管存在显著的遗传异质性，但自闭症谱系障碍的病理生理学趋同的证据正在出现，但这种趋同途径的概念如何转化为治疗方法仍有待建立。通过模型系统和综合基因组方法的进步来利用遗传学发现，可能会导致开发新的治疗方法和个性化治疗方法
Autism spectrum disorder is typical of the majority of neuropsychiatric syndromes in that it is defined by signs and symptoms, rather than by aetiology. Not surprisingly, the causes of this complex human condition are manifold and include a substantial genetic component. Recent developments in gene-hunting technologies and methods, and the resulting plethora of genetic findings, promise to open new avenues to understanding of disease pathophysiology and to contribute to improved clinical management. Despite remarkable genetic heterogeneity, evidence is emerging for converging pathophysiology in autism spectrum disorder, but how this notion of convergent pathways will translate into therapeutics remains to be established. Leveraging genetic findings through advances in model systems and integrative genomic approaches could lead to the development of new classes of therapies and a personalised approach to treatment