负责人：陈路

PI: Chen Lu

疾病基因转录剪切调控实验室主要运用综合基因组、转录组、表征遗传组等大数据和生物学实验等方法研究基因调控和疾病发生机理，开展选择性剪切在造血干细胞分化、癌症发生和多层面组学等领域中的研究工作，从而揭示癌症、血液病、自身免疫性等疾病的发病机理，并希望结合大数据、生物实验为疾病的诊断和治疗提供新的思路和方法。

我们正致力于（1）基因转录和剪切在造血干细胞中的调控机制。（2）基因表达，剪切，表征遗传层面在疾病中的标志物。（3）DNA遗传多态性对基因表达，剪切和表征遗传组的调控和影响。

Specializing in novel genetic and epigenetic research using specialized bioinformatics and statistical analyses, our lab is focusing on human health by integrating bioinformatics and experiments in genetics and epigenetics.

Alternativesplicing is a widespread post-transcriptional process in eukaryotic organisms,wherein multiple distinct transcripts/isoforms are produced from a single gene,often in a tissue- and developmental stage-specific manner.  Alternative splicing also has an importantrole in disease, with 15% of disease-causing mutations located within splicesites and more than 20% of missense mutations lying within predicted splicingelements.

We haveexplored the roles of alternative splicing in cancers (Chen et al., HMG 2011)and haematopoietic stem cell differentiation (Chen et al., Science 2014).  We also expanded to wider aspects of genomicsand epigenetics research, including genome wide association study of bloodtraits using whole genome sequencing (UK10K consortium Nature 2015) and theeffect of common sequence variation on the epigenome landscape (Chen et al.,Cell 2016).

In my faculty position in West China Second University Hospitaland State Key Laboratory of Biotherapy at Sichuan University, I am applyinghuman genetics and epigenetics to disease’s diagnosis and prediction.Particularly, to investigate the gene and splicing regulation in stem cells anddiseases, I am focusing on (a) gene and splicing regulation in hematopoieticstem cells. (b) Signatures of ex-x-pression, splicing and epigenetic marks in cancers; and (c) genetic variation in gene ex-x-pression and epigeneticlandscape in blood-related diseases.