Dr. Li, Ling-Hui 李玲慧 博士

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Dr. Li, Ling-Hui
李玲慧 博士

Research Scientist
研究技師



  • Ph.D, State University of New York at Stony Brook, USA

  • 02-2789-9078 (Lab) (Room No: N618)
Specialty:
  • Cancer Genomics
  • Human Molecular Genetics

RESEARCH

Genome-wide SNP genotyping is a valuable tool for the identification of genes related to disease susceptibility and adverse drug reactions. One of my duties as a research scientist is to ensure the quality of whole genome SNP genotyping service provided by the National Center for Genome Medicine at Academia Sinica. In addition to these routine services, I am actively involved in technological R&D to maximize the utility of SNP genotyping array data. First, I collaborated with statisticians to develop analysis tools to detect interesting genomic features which have not yet been covered by commercial analysis tools. The most recently developed software, ALICE, is awarded the Minister of Science and Technology prize of “2018 Future Tech”. Second, I collaborated with physicians to apply SNP genotyping technology for detecting copy number variation/alteration in neuropsychiatric diseases, induced pluripotent stem cell lines and cancers. Third, I participated in the development of customized Axiom array plates including TPM (TWB2.0) and TPM2 that are designed for genetic study focusing on the Han Chinese residing in Taiwan.

The focus of my research work is to discover the genetic factors and microbes contributing to the malignant transformation of colorectal adenoma to colorectal carcinoma (CRC).​​​​​​​ We have identified several candidate tumor-related genes by integrative analysis of genomic and transcriptomic data. Among them, SKA3 at chromosome 13q was identified as a novel gene in promoting malignant transformation of CRC. Overexpression of these genes may lead to higher chromosomal instability (CIN) in tumors and render them prone to malignant transformation. Currently, we are investigating the underlying mechanisms of these genes contributing to tumorigenesis and progression of CRC. We will also evaluate whether the candidate genes can serve as biomarkers for diagnosis and/or disease monitoring. With 16S rRNA sequencing of paired tissue samples from patients with CRC, we observed that the relative abundance of several microbes was higher in cancerous tissues than in paired adenomas and normal colon tissues. The interactions among these microbes and host and the tumorigenesis mechanisms induced by these interactions will be the focus in the next few years.

研究介紹

全基因體SNP基因型鑑定是尋找疾病易感性基因及藥物不良反應基因的利器。我的職責之一即在確保此實驗平台的品質。同時我也投入研發工作,發展平台新的應用方向及新的分析方法,以協助研究者能充分利用此平台進行研究工作。與統計學者合作的分析軟體:染色體異常偵測大師(ALICE)可以偵測基因型鑑定晶片各種染色體異常現象,榮獲2018科技部未來科技展展示獎項。目前本人利用此實驗平台的資料與臨床醫師合作尋找與精神疾病、誘導性多功能幹細胞、及癌症相關的DNA拷貝數異常。為了提供漢人族群更完善的全基因體SNP基因型鑑定晶片,我也參與兩組客製化晶片,TPM(TWB2)以及TPM2的晶片設計與開發工作。

本實驗室的研究主要在了解大腸直腸癌的癌化機制。我們整合染色體異常變化、異常基因表現、與異常miRNA表現的資料,來尋找與大腸直腸癌癌化相關的基因。透過整合分析,我們已經找到一些可能與癌症形成相關的基因。目前我們選定幾個基因研究它們參與癌症形成的機轉,並評估它們作為診斷或病情進展的生物標記之可能性。另外我們也透過次世代定序找到一些與大腸直腸癌癌化相關的細菌。未來我們會聚焦在這些細菌如何影響腸道細胞,以及這些細菌與腸道細胞交互作用如何誘發大腸直腸癌產生。

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