PROFILE

최무림 교수

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Functional genomics approach to understand rare neurological diseases

The introduction of next-generation sequencing-based analysis dramatically changed the way we identify causal variants and diagnose patients with rare neurodevelopmental disorders. We have established an interdisplinary consortium composed of clinicians, geneticists, and functional biologists that allows both patient diagnosis and therapy as well as research activities to identify novel molecular pathways that cause rare neurodevelopmental diseases. I will cover our decade-long efforts in this endeavor and introduce our research into understanding the pathogenic mechanisms of neurodevelopmental diseases, using Rett syndrome as an example. More specifically, we actively adopt functional genomics and single-cell-based transcriptome sequencing to identify novel variants for Rett syndrome and understand the genotype-phenotype relationship in the patients. Therefore, we aim to achieve an efficient bench-to-bedside platform for rare neurodevelopmental disorder patients.

서울대학교 의과대학

CURRENT POSITION

Professor (Mar, 2013-)
Department of Biomedical Sciences
Seoul National University College of Medicine, Seoul, Korea

EDUCATION

Duke University Medical Center, Durham, NC
Ph.D. in University Program in Genetics and Genomics (Dec. 2006)
Seoul National University, Seoul, Korea
Master of Science in Molecular Biology (Feb. 2000)
Seoul National University, Seoul, Korea
Bachelor of Science in Molecular Biology (Feb. 1998)

PROFESSIONAL EXPERIENCES

Associate research scientist with Dr. Richard Lifton (Jul. 2010 - Feb. 2013)
Howard Hughes Medical Institute, Department of Genetics, Yale University School of Medicine
Postdoc associate with Dr. Richard Lifton (Jul. 2007 - Jun. 2008 and Jul. 2009 - Jun. 2010)
Howard Hughes Medical Institute, Department of Genetics, Yale University School of Medicine
Postdoc fellow with Dr. Richard Lifton (Jul. 2008 - Jun. 2009)
Howard Hughes Medical Institute, Department of Genetics, Yale University School of Medicine

PUBLICATIONS

1. Sim, H., Park, G.-H., Park, W.-Y., Lee, S.-H.,† Choi, M.† Single-cell-eQTL mapping in circulating immune
cells reveals genetic regulation of response-associated networks in lung cancer immunotherapy. Cancer
Commun. (2025) in press
2. Hong, S. E., Mun, S. J., Lee, Y. J., Yoo, T., Suh, K.-S., Kang, K. W., Son, M. J., Kim, W.,† Choi, M.†
Identification of genes conferring individual-level variation responsible for metabolic dysfunctionassociated
steatohepatitis using single-cell eQTL analysis. Nat. Genet. (2025) in press
3. Moon, H.,* Kim, M.,* Sim, H.,* Hong, S., Jeon, H., Cho, J.,† Choi, M.† Comprehensive profiling of
genetic and non-genetic factors that influence skin traits in Asian women from four countries. J. Invest.
Dermatol. (2025) in press
4. Jeon, E. Y., Kwak, Y., Kang, H., Jin, S. Y., Park, S., Kim, R. G., Ko, D., Won, J.-K., Cho, A., Jung, I., Lee,
C.-H., Park, J., Kim, H.-Y., Chae, J.-H.,† Choi, M.† Inhibiting EZH2 complements steroid effects in
Duchenne muscular dystrophy. Sci Adv. (2025) 11:eadr4443.
5. Sim, H., Park, H. J., Park, G. H., Kim, Y. J., Park, W. Y., Lee, S. H.,† Choi, M.† Increased inflammatory
signature in myeloid cells of non-small cell lung cancer patients with high clonal hematopoiesis burden.
Elife. (2024) 13:RP96951.