🪐Research Field🪐

🌳PMGL is conducting genetic association studies on disease-related genes to uncover host genetic factors influencing susceptibility and resistance to various diseases. Using genome-wide association studies (GWAS), single nucleotide polymorphism (SNP) analyses, and next-generation sequencing (NGS), we investigate genetic determinants linked to neurodegenerative diseases such as prion disease, Alzheimer’s disease, and vascular dementia, as well as infectious diseases including influenza, COVID-19, HIV, scrub typhus, and tuberculosis. By integrating genomic data with disease outcomes, we aim to identify novel risk loci and molecular pathways that can inform strategies for early diagnosis, personalized therapy, and disease prevention.

1️⃣ Prion (CJD, BSE, CWD, Scrapie) 

대표1. Roh IS, Kim YC, ..., Sohn HJ, Jeong BH*. First report of a strong association between genetic polymorphisms of the prion protein gene (PRNP) and            susceptibility  to chronic wasting disease (CWD) in sika deer (Cervus nippon). Transbound Emerg Dis. 2022, 69: e2073-e2083 [IF:5.005, JCR Ranking            2.7%].

2️⃣ Cancer, Alzheimer's Disease, Vascular Dementia, and Aging 

대표1. Kim YC, Jeong BH*. Identification of prion disease-related somatic mutations in the prion protein gene (PRNP) in cancer patients. Cells 2020, 9: 1480 [IF:            7.666].  

3️⃣ RNA (Influenza A virus, COVID-19, HIV) and DNA (JCV, BKV, MCV) viruses

대표1. Kim YC, Jeong MJ, Jeong BH*. Strong association of regulatory single nucleotide polymorphisms (SNPs) of the IFITM3 gene with influenza H1N1 2009            pandemic virus infection. Cell Mol Immunol. 2020, 17: 662-664. [IF: 22.096, JCR Ranking 3.7%]. 

4️⃣ Tick-borne diseases (Scrub Typhus, SFTSV)

대표1. Kim YC,…,Jeong BH*. Genome-Wide Association Study Identifies Eight Novel Loci for Susceptibility of Scrub Typhus and Highlights Immune-Related            Signaling Pathways in Its Pathogenesis. Cells 2021, 10: 570 [IF: 7.666]. 

🌳 PMGL is committed to advancing research on the diagnosis and epidemiology of prion diseases. We investigate the molecular mechanisms underlying the conversion of normal prion protein (PrPC) to the abnormal isoform (PrPSc), and their association with genetic mutations and disease susceptibility. Through the development of sensitive detection techniques such as protein misfolding cyclic amplification (PMCA) and biomarker discovery, we aim to improve early diagnosis, surveillance, and risk assessment of human and animal prion diseases. 

대표1. Kim YC, Jeong BH*. Creutzfeldt-Jakob disease (CJD) Incidence, South Korea, 2001-2019. Emerg Inf Dis. 2022, 28: 1863-1866 [IF: 16.126, JCR            Ranking  8.0%]. 

🌳PMGL is dedicated to the development of biomarkers for prion diseases using a multi-omics approach. By integrating genomics, transcriptomics, proteomics, and lipidomics, we analyze genetic, transcript, protein, and lipid alterations in both prion-infected models and healthy controls. Through comprehensive sequencing and high-throughput technologies, we aim to identify reliable biomarkers that can facilitate early diagnosis, disease monitoring, and therapeutic evaluation in prion disease.

대표1. Kim YC, Won SY, Jeong MJ, Jeong BH*. Absence of proteinase K-resistant PrP in Korean Holstein cattle carrying potential bovine spongiform            encephalopathy-related E211K somatic mutation. Transbound Emerg Dis. 2022, 69: 805-812 [IF: 5.005,  JCR Ranking 2.7%]. 

대표2. Zayed M, Kim YC, Jeong BH*. Biological characteristics and transcriptomic profile of adipose-derived mesenchymal stem cells isolated from prion-                       infected murine model. Stem Cell Res Ther. 2025, 16: 154  [IF: 7.1, JCR Ranking 9.6%]. 

🌳 PMGL is conducting mechanistic and functional studies of prion diseases using diverse in vivo and in vitro models. By employing transgenic and knockout mice, as well as naturally resistant animal species, we investigate how genetic variations in PRNP and related genes influence prion propagation and disease susceptibility. Through biochemical assays such as Western blotting, survival analysis, immunohistochemistry, and advanced detection methods including PMCA and RT-QuIC, we aim to elucidate the molecular pathways of prion pathogenesis and identify potential therapeutic targets.

대표1. Sim HJ, Kim YC, Bhattarai G, Won SY, JC Lee, Jeong BH*, Kook SH. Prion infection modulates hematopoietic stem/progenitor cell fate through cell-                     autonomous and non-autonomous mechanisms. Leukemia 2023, 37: 877-887 [IF: 12.883,  JCR Ranking 8.9%].

대표2. Kim YC, Lee J, Lee DW, Jeong BH*. Large-scale lipidomic profiling identifies novel potential biomarkers for prion disease and highlights lipid raft-related            pathways. Vet Res. 2021, 52: 105 [IF: 3.683, JCR Ranking 4.7%]. 

대표2. Zayed M, Kim YC, Jeong BH*. Therapeutic effects of adipose-derived mesenchymal stem cells combined with glymphatic system activation in prion                      disease. Mol Neurodegener. 2025, 20: 42 [IF: 15.1, JCR Ranking 2.2%].