【佳学基因检测】将基因检测结果和临床前发现转化为自闭症治疗

精神病基因疗法说明

开会学习神经系统的基因组学特征与治疗方案时，设计了《精神与神经疾病基因突变度与预防策略的实施计划》，并引用了《Dialogues Clin Neurosci》在 2017 Dec;19(4):335-343.发表了一篇题目为《将遗传和临床前发现转化为自闭症治疗》神经科基因检测结果指导下的肿瘤靶向药物治疗基因检测临床研究文章。该研究由Maria Chahrour, Robin J Kleiman, M Chiara Manzini等完成。促进了基因信息指导下的自闭症等精神类疾病的靶向药物治疗的发展，进一步拓展了靶向药物治疗的疾病谱，增加了精神、神经疾病治疗的针对性。

神经疾病遗传阻断及精准治疗临床研究内容关键词：

CYP2C19,CYP2D6,沮丧,GWAS,药物遗传学,精神分裂症

精神科心理科疾病用药指导基因检测临床应用结果

自闭症谱系障碍（ASD）是一种复杂的神经发育障碍，其特征是社交缺陷和重复/限制性兴趣。 ASD 与多种合并症有关，包括智力障碍、焦虑和癫痫。 ASD 具有高度遗传性的证据促使人们做出重大努力来解开其遗传学，揭示数百个基因通过罕见和常见变异以及通过拷贝数变化可能做出的贡献。从这个角度来看，我们概述了 ASD 遗传学的现状，以及基因研究如何促进体内和体外模型的发展，使用动物和患者细胞来评估基因突变对导致疾病的细胞功能的影响。将这些发现转化为成功疗法的努力尚未取得成果。我们讨论了如何利用这些新模型提供的对疾病的宝贵见解来更好地了解 ASD 并开发未来的临床试验。遗传学；基因组学；神经发育障碍;治疗。

神经及精神疾病及其并发征、合并征国际数据库描述：

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by social deficits and repetitive/restrictive interests. ASD is associated with multiple comorbidities, including intellectual disability, anxiety, and epilepsy. Evidence that ASD is highly heritable has spurred major efforts to unravel its genetics, revealing possible contributions from hundreds of genes through rare and common variation and through copy-number changes. In this perspective, we provide an overview of the current state of ASD genetics and of how genetic research has spurred the development of in vivo and in vitro models using animals and patient cells to evaluate the impact of genetic mutations on cellular function leading to disease. Efforts to translate these findings into successful therapies have yet to bear fruit. We discuss how the valuable insight into the disorder provided by these new models can be used to better understand ASD and develop future clinical trials.Keywords: autism spectrum disorder; genetics; genomics; neurodevelopmental disorder; therapy.