E. Alice Lee, PhD

E. Alice Lee, PhD

Principal Investigator
PhD in Bioinformatics, KAIST (Korea Advanced Institute of Science and Technology)
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Alice is a Principal Investigator in the Division of Genetics and Genomics at Boston Children’s Hospital (BCH) and an Assistant Professor at Harvard Medical School (HMS). She is also an Associate Member of the Broad Institute of Harvard and MIT and a faculty member of the Harvard Bioinformatics and Integrative Genomics (BIG) PhD Program. She runs a research program focusing on repetitive DNA, particularly transposable elements, and somatic mutations  in human diseases using cutting-edge genomic technologies, envisioning the translation of her scientific discoveries into improved healthcare outcomes. She won an NIH K01 Award for work on somatic mutations in neurodegenerative disorders, and serves on the Editorial Board of MobileDNA, a journal dedicated to transposable elements.

She received her BA and MS in Computer Science, and her PhD in Bioinformatics from KAIST in South Korea. During her PhD, she studied pathway and network analysis as a research associate in Dr. Trey Ideker's laboratory at UC, San Diego. She served as a postdoctoral fellow in Peter Park’s laboratory at HMS starting in 2010 and became an Instructor in 2013. She joined the faculty in the Division of Genetics and Genomics at Boston Children's Hospital and became an Assistant Professor of Pediatrics at HMS in 2017. 

During her postdoctoral training, she had extensive experience in studying somatic mutation in human cancer and in single neuronal genomes through participating in the TCGA (The Cancer Genome Atlas), an NIH-led cancer genomics consortium and other projects. She has developed computational methods for whole-genome sequencing data analysis including the Tea (Transposable Element Analyzer) method (Lee et al., Science, 2012) and performed a systematic analysis of mobilization of all retrotransposon classes in human cancer. The Tea method has been successfully applied to multiple genomic studies in different contexts including human cancer, single-neuron analysis, and primate evolution. Most recently, she has identified numerous somatic single nucleotide variants, including synonymous ones, that disrupt mRNA splicing in cancer through an integrative analysis of large-scale DNA- and RNA-sequencing data and found that intron retention is a common yet underappreciated mechanism of tumor suppressor inactivation in cancer (Jung et al., Nature Genetics, 2015).