The goal of the center is to establish world-class genomics-based technology platforms and to apply those to biomedical research programs in order to achieve precision medicine for rare diseases based on genome big data. This will help realize the analysis of large-scale NGS data for rare neuronal diseases, as well as the high-throughput identification and global functional analysis of the genes associated with rare neuronal diseases, such as Hereditary Spastic Paraplegia (HSP), Ataxia, Malformations of Cortical Development (MCD) and Lennox-Gastaut Syndrome (LGS). We also discover targets and biomarkers in order to develop precise diagnostics and therapeutics for rare neuronal diseases.
Research Areas
Establishment of genome research infrastructure and technology platforms for rare neuronal diseases
Construction of a genetic variants map and integrated DB for Korean rare neuronal diseases
Large-scale screening and identification of genes related to rare neuronal diseases
Identification of biomarkers and development of gene panel for precise diagnostics of rare neuronal diseases
Functional validation of candidate target genes for precise therapeutics development of rare neuronal diseases
Application of target genes onto gene therapy for precise therapeutics of rare neuronal diseases
Systematic analysis of the cellular targets of bioactive molecules using the fission yeast genome-wide genedeletion collection
Construction of a genetic variants map of Korean HSP, Ataxia & TS
Development of molecular diagnostics for HSP & Ataxia
Construction of analysis pipeline of large volume NGS genome data for rare diseases
Development and characterization of animal models for rare neuronal diseases
Construction of S. pombe Genome-wide Deletion Mutant Library
Selected Publications
Osteopontin production by TM4SF4 signaling drives a positive feedback autocrine loop with the STAT3 pathway to maintain cancer stem cell-like properties in lung cancer cells.
Oncotarget. 8(60):101284-101297.
Eun Wie Cho (Co-corresponding)
Novel indazole-based small compounds enhance TRAIL-induced apoptosis by inhibiting the MKK7-TIPRL interaction in hepatocellular carcinoma.
Oncotarget. 8(68):112610-112622.
Nam-Soon Kim (Co-corresponding)
Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene.
Sci Rep. 7(1):12527.
Jae-Ran Lee (Co-corresponding)
Ottogi inhibits Wnt/β-catenin signaling by regulating cell membrane trafficking of Frizzled8.
