Cologne Seminars on Ageing "Somatic mutation and repetitive DNA: the next frontier in human genomics"

About Dr. Lee´s talk:

Once considered junk DNA, transposons are now recognized as playing an important role in many aspects of human biology and diseases. Somatic mutations present in a small fraction of cells or in single cells have also been implicated in various developmental and degenerative human diseases. Transposons and somatic mutations, however, are two of the most challenging biological entities to detect and validate, but recent advances in genome sequencing, such as single-cell DNA sequencing will allow us to systematically investigate them. In this seminar, I will introduce challenges and progress in studying transposons and somatic mutations in aging and other ageassociated human conditions, including cancer and neurodegeneration. Our recent pan-cancer analysis of RNA-seq profiles from 10,257 cancer samples and 3,088 normal tissue samples revealed that transcripts including unexpected transposon sequences are prevalent in human tissues and cancers, most notably in the testis and testicular germ cell tumors. Our analysis reveals the multifaceted role of transposon-fusion RNAs in both tumorigenesis and antigenicity, suggesting transposons as promising therapeutic targets and source of potent neoantigens. In addition, our recent data indicate that L1HS transposons promote genomic instability in human cells.

Her scientific background and research interest
Dr. Lee is an Associate Professor in the Division of Genetics and Genomics at Boston Children’s Hospital (BCH) and Harvard Medical School (HMS). She leads a research program focusing on transposons and somatic mutations in various human conditions using computational genomic and bioinformatic approaches. She received her B.S. and M.S. in Computer Science and a Ph.D. in Bioinformatics from KAIST (Korea Advanced Institute of Science and Technology). She also studied systems biology under the guidance of Trey Ideker at the University of California, San Diego during her Ph.D. studies. She then completed her postdoctoral training at HMS and started her research program at BCH in 2017. She has received multiple competitive national, international, and local awards, including NIH Director’s New Innovator Award (DP2), SUHF Young Investigator Award, Charles H. Hood foundation Research Award, and HMS Shore fellowship and Hearst Foundation grant award.