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Key Profile Area: Aging-associated Diseases

All Members of the Global Faculty

Eunjung (Alice) Lee, PhD

Member of the Global Faculty

E. Alice Lee received her PhD in Bioinformatics from the Korea Advanced Institute of Science and Technology (KAIST) for her research in integrative systems biology. She studied with Trey Ideker at the University of California, San Diego during her PhD studies and then completed her postdoctoral training with Peter J. Park at Harvard Medical School (HMS). She is currently an Associate Professor in the Division of Genetics and Genomics at Boston Children’s Hospital and HMS.

Alice's research focuses on elucidating the role of transposable elements and somatic mutations in various human conditions such as cancer, aging, and neurodegeneration. She has reported frequent somatic retrotransposition in certain human cancers and bona fide somatic retrotransposition in the human brain by developing computational methods for cancer whole genome and single-neuron genome sequencing data. Her team has reported that transposons play a role through various mechanisms, such as shaping cancer immunity and generating novel molecules through alternative splicing in human tissues and cancers. They have also reported the contribution of transposon insertions in rare diseases, most of which alter RNA splicing, and are currently investigating the mechanisms underlying altered splicing to develop novel intervention strategies. Furthermore, using cutting-edge single-cell genomics technologies, her team has reported increased somatic mutations and distinct mechanistic signatures in brains with neurodegeneration, such as Alzheimer's disease. 

Alice has been recognized as a leading investigator in the field and has received several awards, including an NIH New Innovator Award (DP2), as well as numerous invitations to speak at major conferences on transposons, genomics, and genetics. She leads a transpon analysis working group in the SMaHT (Somatic Mosaicism Across Human Tissue) Network, an NIH consortium on somatic mosaicism and is a co-organizer of the first Keystone meeting on somatic mosaicism in 2025.

Selected Publications:

 

  1. Lee E, Iskow R, Yang L, Gokcumen O, Haseley P, Luquette LJ 3rd, Lohr JG, Harris CC, Ding L, Wilson RK, Wheeler DA, Gibbs RA, Kucherlapati R, Lee C, Kharchenko PV**, Park PJ**; Cancer Genome Atlas Research Network. Landscape of somatic retrotransposition in human cancers. Science. 2012 Aug 24;337(6097):967-71.
  2. Miller MB*, Huang AY*, Kim J, Zhou Z, Kirkham SL, Maury EA, Ziegenfuss JS, Reed HC, Rento L, Ames HM, Oakley DH, Frosch MP, Hyman BT, Lodato MA**, Lee EA**, Walsh CA**. Somatic genomic changes in single Alzheimer's disease neurons. Nature 2022;604(7907):714-722
  3. Kim J, Huang AY, Isacco L, Lai J, Miller MB, Lodato MA, Walsh CA**, Lee EA**. Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders. Nat. Comm. 2022;13(5918) doi: 10.1038/s41467-022-33642-w. PMID: 36207339; PMCID: PMC9546902.
  4. Zhao B, Nguyen MA, Woo S, Kim J, Yu TW**, Lee EA**. Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia. Am J Hum Genet. 2023 Nov 2;110(11):1976-1982
  5. Lai J, Demirbas D, Kim J, Jeffries AM, Tolles A, Park J, Chittenden TW, Buckley PG, Yu TW, Lodato MA**, Lee EA**. ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia. Cell Rep. 2024 Jan 23;43(1):113622. doi: 10.1016/j.celrep.2023.113622. Epub 2023 Dec 29. PMID: 38159274; PMCID: PMC10908398.