数字PCR技术在HER-2基因扩增检测中的应用
2013年作为PCR技术诞生30周年，本次论坛将围绕PCR技术以及新一代的微滴式数字PCR在肿瘤标记分子领域的应用展开研讨，我们邀请了海内外知名的相关领域卓有建树的科学家采用大会报告以及专题讨论的形式，结合国际上转化医学研究的前沿动态与发展趋势，为大家带来一场生命科学的学术盛宴。
低成本基因标志物检测新方法及其装置
检测具有生物学意义的基因序列、基因突变与基因表达量是分子诊断的重要内容。通常先对目标序列进行扩增，然后采用特异性的方法捕获待检靶标，最后通过光电等手段将捕获的靶标转换成可读信号，实现基因标志物的检测。检测成本主要体现在检测试剂、检测人力与检测装置。为了降低检测成本，本课题组提出了新的低成本靶标捕获与检测方法，采用裸眼即可检测，无需使用荧光标记探针；通过将序列扩增与靶标捕获、信号读出等一体化，在单管中完成扩增与检测全部过程，极大降低了人工操作时间。加入样本就可自动给出结果，无需昂贵的仪器装置，仅需一台普通的PCR仪。同时，为了避免可能的人为误差，我们又研制了低成本微量可见分光检测系统，用以检测扩增产生的信号。本方法已经成功用于病原微生物检测、个体化用药相关基因标志物检测，表明我们研制的新方法能够实现低成本基因序列差异和突变的检测。
转录因子和miRNA在复杂疾病中的共调控网络研究
Transcription factors (TFs) are key regulators controlling the transcription of target genes by binding to specific DNA sequences on the promoter of target genes. Both the TFs and miRNAs are regulators of gene expression and they may mutual regulate each other to form feedback loops (FBL), or they regulate the same target gene to form a feed-forward loop (FFL). It has been reported that hundreds of potential miRNA-mediated feedback and feed-forward loops are available at the genome level. To predict the TF-miRNA co-regulatory FFL and FBL loops, we integrated multiple data of TF targets and miRNA targets including both experimentally validated and predicted. Thus, we developed a strategy to predict the TF-miRNA co-regulatory FFL and FBL loops. We used these methods to study the TF-miRNA co-regulation in specific diseases including schizophrenia and T-cell acute lymphoblastic leukemia (T-ALL). We identified and verified some key miRNA and genes in these diseases. In the T-ALL, we obtained 120 FFLs among T-ALL related genes, miRNAs and TFs. Afterwards, a T-ALL miRNA and TF co-regulatory network was constructed and its significance was tested by statistical methods. Four miRNAs in the miR-17~92 cluster and 4 important genes (CYLD, HOXA9, BCL2L11, and RUNX1) were found as hubs in the network. Particularly, we found that miR-19 was highly expressed in T-ALL patients and cell lines. Ectopic expression of miR-19 repress CYLD expression, while miR-19 inhibitor treatment induce CYLD protein expression and decreases NF-κB expression in the downstream signaling pathway. Thus, miR-19, CYLD and NF-κB form a regulatory feed-forward loop, which provides new clues for sustained activation of NF-κB in T-ALL. Some single nucleotide polymorphisms (SNPs) in miRNA genes or target sites (miRNA-related SNPs) have been proved to be associated with human diseases by affecting the miRNA mediated regulatory function. To systematically analyze miRNA-related SNPs and their effects, we performed a genome-wide scan for SNPs in human pre-miRNAs, miRNA flanking regions, target sites and designed a pipeline to predict the effects of them on miRNA-target interaction. As a result, we identified 48 SNPs in human miRNA seed regions and thousands of SNPs in 3'- untranslated regions with the potential to either disturb or create miRNA-target interactions. Furthermore, we experimentally confirmed 7 loss-of-function SNPs and 1 gain-of-function SNP by luciferase assay. All useful data were complied into miRNASNP, a user-friendly free online database (http://www.bioguo.org/miRNASNP/). These data will be a useful resource for studying miRNA function, identifying disease-associated miRNAs, and further personalized medicine.
林旭：中国人群营养和遗传因素与代谢性疾病的队列研究
林旭研究员介绍了其团队针对中国人群营养和遗传因素与代谢性疾病相关的研究成果： 1 亚洲人比白种人更易罹患糖尿病，中国人更具有“代谢性肥胖”特征。2 中国人群代谢性肥胖表型和疾病的高易感性，不仅仅与遗传因素相关，环境因素也起了非常重要的作用。上世纪90年代以来我国居民膳食能量来源的巨大改变，随之而来的是，近年来我国糖尿病患者数量激增。 3 北京上海两地原住民饮食习惯的不同，更为合理膳食搭配使得上海居民糖尿病患病率低于北京。4 维生素D、乳制品的摄取可降低糖尿病的发病率。体内视黄醇结合蛋白4、C反应蛋白、铁蛋白、内毒素结合蛋白含量的升高预示罹患糖尿病的风险增加。
张勇：国家基因库-样本库管理、联盟与应用
2013年，国家基因库已经累计处理近210万份生物样本，随着未来科研和相关临床产业的飞速发展，样本库的质量管理、高通量能力、联盟建设以及最后的产出变得尤为重要。
本报告将通过对2013年的总结，与各位专家分享现实工作中面临的问题，同时对未来技术的简要介绍，展望2014年样本库将承载的重大任务。
本报告还将对国家基因库使用的存储硬件、管理软件、监控设备、高通量制备提取经验进行分享。2014年将进一步扩大存储容量，本报告也将探讨联盟样本库（虚拟样本库、网络样本库），第三方存储服务等模式在样本库领域的潜在可能性。
本报告最后将宣布几个大型科学研究计划，吸引更多的科研专家一同为发挥样本库资源做出贡献。
转录因子和miRNA在复杂疾病中的共调控网络研究
Transcription factors (TFs) are key regulators controlling the transcription of target genes by binding to specific DNA sequences on the promoter of target genes. Both the TFs and miRNAs are regulators of gene expression and they may mutual regulate each other to form feedback loops (FBL), or they regulate the same target gene to form a feed-forward loop (FFL). It has been reported that hundreds of potential miRNA-mediated feedback and feed-forward loops are available at the genome level.
唐世琪：慢病管理：控危险因素，达25x25目标
唐世琪教授首先在其报告《慢病管理：控危险因素，达25x25目标》指出：中国的慢病防控主要面向三个人群；关注三个环节；蚕蛹三种手段。中国慢病防控工作主要关注四种重点慢性病；四种主要生物指标；四种主要行为危险因素。
small RNA-seq - 陈巍学基因（9）
本期课程介绍：
1、small RNA建库测序的方法；
2、small RNA测序数据的生物信息学分析（A、表达量差异分析；B、聚类分析；C、GO分析；D、KEGG Pathway分析）；
3、血清和血浆micro RNA测序的意义、和样本准备