Minji Byun, PhD
- ASSISTANT PROFESSOR | Medicine, Clinical Immunology
Research Topics:Aging, Blood, Epigenetics, Epigenomics, Human Genetics and Genetic Disorders, Immunology, Induced pluripotent stem cells, Inflammation
Dr. Minji Byun earned a B.S. from Pohang University of Science and Technology, South Korea, and holds a Ph.D. from Washington University in St. Louis. After completing postdoctoral training at Rockefeller University, she became a faculty member at Washington University in St. Louis. In 2017, she was recruited to the Icahn School of Medicine at Mount Sinai to join the Precision Immunology Institute. Her broad research interest is on the role of genetic variants in initiating and modulating immune-mediated diseases.
Multi-Disciplinary Training AreasDevelopment, Regeneration, and Stem Cells [DRS], Genetics and Data Science [GDS], Immunology [IMM]
PhD, Washington University in St. Louis
Postdoc, The Rockefeller University
PhD Scientist Innovative Research Award
Young Investigator Award
Senior Fellowship in Biomedical Science
Irvington Postdoctoral Fellowship
Genetic etiology of multicentric Castleman disease
Multicentric Castleman disease (MCD) is a rare lymphoproliferative disorder, characterized by episodes of systematic inflammatory symptoms that can lead to death in severe cases. The etiology of HHV-8 negative MCD is unknown. We hypothesize that genetic mutations (inherited or acquired) contribute to the initiation and progression of MCD. By performing and analyzing whole-genome sequencing data of a cohort of MCD patients, we have identified a mutation in the FAS gene in a familial case (Baker et al). We are currently characterizing additional candidate gene mutations affecting various immune pathways. We are closely collaborating with the Castleman Disease Collaborative Network on this project.
Epigenetic modifier murations associated with clonal hematopoiesis
Clonal expansion of blood cells carrying acquired mutations in epigenetic modifier genes, such as DNMT3A and TET2, is common in older adults. This phenomenon, referred to as age-related clonal hematopoiesis, is associated with increased risks of blood cancers and cardiovascular disease. Molecular mechanisms underlying these disease associations are poorly understood. Our group investigates the pathogenic mechanisms of DNMT3A and TET2 mutations, and their roles in promoting blood cancers and atherosclerosis. In particular, we are interested in understanding the impact of these mutations on DNA methylation and immune gene expression. We utilize primary immune cells from donors as well as human pluripotent stem cell-derived immune cells for this research.
Lim JY, Duttke SH, Baker TS, Lee J, Gambino KJ, Venturini NJ, Ho JS, Zheng S, Fstkchyan YS, Pillai V, Fajgenbaum DC, Marazzi I, Benner C, Byun M. DNMT3A haploinsufficiency causes dichotomous DNA methylation defects at enhancers in mature human immune cells. The Journal of experimental medicine 2021 Jul; 218(7).
Baker TS, Gambino KJ, Schriefer L, Lim JY, Steinberg KM, Fajgenbaum DC, Martín García-Sancho A, Byun M. A novel mutation with variable expressivity in a family with unicentric and idiopathic multicentric Castleman disease. Blood advances 2018 Nov; 2(21).
Belkaya S, Kontorovich AR, Byun M, Mulero-Navarro S, Bajolle F, Cobat A, Josowitz R, Itan Y, Quint R, Lorenzo L, Boucherit S, Stoven C, Di Filippo S, Abel L, Zhang SY, Bonnet D, Gelb BD, Casanova JL. Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis. Journal of the American College of Cardiology 2017 Apr; 69(13).
Byun M, Ma CS, Akçay A, Pedergnana V, Palendira U, Myoung J, Avery DT, Liu Y, Abhyankar A, Lorenzo L, Schmidt M, Lim HK, Cassar O, Migaud M, Rozenberg F, Canpolat N, Aydogan G, Fleckenstein B, Bustamante J, Picard C, Gessain A, Jouanguy E, Cesarman E, Olivier M, Gros P, Abel L, Croft M, Tangye SG, Casanova JL. Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood. The Journal of experimental medicine 2013 Aug; 210(9).
Byun M, Abhyankar A, Lelarge V, Plancoulaine S, Palanduz A, Telhan L, Boisson B, Picard C, Dewell S, Zhao C, Jouanguy E, Feske S, Abel L, Casanova JL. Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. The Journal of experimental medicine 2010 Oct; 207(11).