国内外脑计划简介与思考

1、国际脑计划简介: (1)美欧为什么要推出脑计划 (2)美欧为什么要现在推出脑计划; (3)美欧脑计划主体研究内容的演化 (4)刚刚启动的国际脑计划。 2、中国脑计划简介: (1)中国脑计划的筹备过程; (2)中国脑计划的基本思路与布局; (3)中国脑计划面临的主要问题与思考。 3、各省市与部门脑科学计划情况: (1)上海、重庆、深圳、宁夏等地脑科学研究布局; (2)北京“脑科学研究”专项和人脑保护高精尖创新中心 (3)中科院与医科院脑研究布局。

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中国自闭症儿童家庭关怀行动

主要介绍自2012年4月“全国自闭症儿童家庭关怀行动”项目启动以来,成立全国专家,实施“十百千万”计划,在科 普倡导、人才培养、早期筛查、早期诊断、科学干预、融合教育、家庭救助、职前培训、主题活动等方面的实践经验及未来 三年的规划。

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Precision diagnosis and intervention for autism spectrum disorder—Challenging but promising

Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing, China Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder, mainly characterized bympaired social communication, and repeated behaviour and interests. ASD has a prevalence of 1%–2%, with strong male bias and high frequency of comorbidity. Genetics is an essential cause for the etiology of ASD. Over the last few years, there have been unprecedented advances in understanding ASD in Western countries. In parallel, studies have showed significant increase of the incidence of Chinese ASD, leading to growing atten- tion and research activities in ASD among scientists, clinicians, government and publics. Studies of WES and WGS have found that rare mutations, including inherited mutations, de novo mutations (DNMs) and copy-number variations (CNVs), have larger penetrance and effects on ASD than common SNPs. Our international collabora- tions reported that mutations of ANK3 are associated with ASD susceptibility by WES of a cohort of 20 Cauca- sian patients. Several ASD studies of Chinese population by NGS is currently on track. For example, we sequenced 189 ASD risk genes in 1,543 ASD probands of Han Chinese, and identified 10 genes with recurrent DNMs in Chinese cohorts, including SCN2A, which contributes to 1.1% of patients. In another project, we sequenced microcephaly and macrocephaly associated genes in 536 ASD probands, and found that risk-genes for ASD and abnormal brain size were involved in chromatin modification, mitotic cell cycle, and synaptic transmission. Moreover, we employed WGS on 32 ASD trios to detect functional mutations in both coding and regulatory regions of genome. In the analysis of genomic variations, we found several genes harbour DNMs or CNVs in both Han Chinese and Caucasian patients, suggesting the shared genetic burdens among different popula- tions. Although, molecular diagnosis for autism spectrum disorder is promising, establishing systematic methods for clinical diagnosis and intervention is challenging.

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基于下一代测序技术的孤独症多基因检测

孤独症谱系障碍(autism spectrum disorder, ASD)是一组严重影响儿童健康,具有高度临床和遗传异质性 的神经发育障碍性疾病,其典型的临床症状包括社会交往障碍,语言交流障碍以及刻板、重复的行为。孤 独症具有高达1%的发病率,且呈现逐年上升趋势,给家庭和社会带来了沉重的负担。此外,孤独症具有高 达60%-90%的遗传度,说明基因突变在孤独症中扮演着非常重要的作用。北京迪安捷生物科技有限公司将 具有自主知识产权的液相探针捕获测序技术与孤独症相关研究成果相结合,全国率先开展儿童孤独症多基 因检测服务。我们的产品通过目标区域捕获测序技术,高针对性、高性价比、高深度地对孤独症相关的基 因或突变位点进行检测,从而做到早发现,早诊疗。本产品具有完全的自主知识产权,预计可以准确诊断30-50%的自闭症患者。 具体地讲,迪安捷科技团队从多个角度系统分析并筛选了520个最有可能的自闭症候选基因,主要包括: 1,AutismKB以及SFARI数据库中广泛报道同自闭高度相关的基因;2,基于一万个神经精神疾病患者的新生突变数据,分析得到的候选基因,包括了部分新的候选基因; 3,基于2000个中国自闭症患者捕获测序数据,分析得到的候选基因,包括了部分中国人群特有的候选基因。 然后,我们根据候选基因的参考序列设计特异性的捕获探针,液相杂交目标区域,并进行下一代测序。 通过生物信息学分析以及2000个中国人全外显子测序数据作为对照,从测序数据准确各种检测遗传变异,并筛选出有害的稀有突变。 最后,根据变异的遗传方式(新生突变或者遗传于父母)、突变类型(无意突变、移码突变、错义突变等)以及候选基因同孤独症的强弱关系(strong, suggested以及hypothesis),我们将风险变异划分为五 个等级,为临床诊断、治疗和康复提供理论依据。

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儿童孤独症临床异质性、表型与内表型

探讨在DSM-4诊断标准到DSM-5诊断标准修改后,临床医生对ASD患病率、病因与发病机制、临床特 征(主要是从表型和内表型角度)以及诊断和干预的认识,对未来ASD的研究提出建议。

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