Hungoo Lee is an assistant professor in the Department of Genetic Medicine at Johns Hopkins School of Medicine, where his research focuses on understanding how expanded long tandem repeats cause epigenetic abnormalities in fragile X syndrome (FXS), the most common monogenic autism spectrum disorder (ASD). His work specifically investigates the molecular mechanisms underlying repeat instability in FXS patients and how repeat expansions drive disease pathology through RNA-mediated epigenetic changes. Building on postdoctoral training in Jeannie Lee’s laboratory at Massachusetts General Hospital/Harvard Medical School — a pioneering group in non-coding RNA and X chromosome inactivation — he integrated RNA biology expertise with his background to explore repeat-RNA biology in FXS, successfully securing FRAXA and SFARI Bridge-to-Independence (now Fellows to Faculty) grants to support this research direction.

Lee brings a uniquely multidisciplinary perspective to studying repeat-mediated mechanisms in ASD and other neurological disorders, combining computational biology skills developed at bioinformatics team in Dong-a Seetech IT company, epigenetics expertise gained during his Ph.D. at Rutgers University investigating Polycomb group proteins at intergenic and repetitive regions, and G-quadruplex and repetitive elements enrichment analysis for non-coding RNAs TERRA, Jpx and Xist binding sites during his postdoctoral work. This integrated approach enables his laboratory to address fundamental questions about repeat-mediated epigenetic mechanisms in human diseases: how expanded repeats alter chromatin states and gene expression, what drives increased repeat instability in FXD and other ASD patients, and how repeat-containing RNAs contribute to neurological pathology in diverse repeat expansion diseases. His research program represents a comprehensive effort to understand repeat-associated ASD and other repeat expansion diseases through computational genomics, epigenetics, and RNA biology.