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Rare Disease Research Center

Rare Disease Research Center
Objectives
Development of precision and customized medicine original technology for rare neurological diseases based on big data
  • Establishment of CNV map related to neurological diseases for Koreans
  • Development of precise diagnostics for neurological diseases
  • Identification of precision and customized treatment target for neurological diseases
Researcher
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researchers and research statement
name research fields
Nam-Soon Kim
/ Associate Director
  • Identification of diagnosis and treatment target of genome-based diseases and research on function and mechanism
  • Operation of Korea Human Gene Bank
Kyung-Sook Chung
/ Principal Researcher
(Concurrent Position)
  • Verification of the function of target genes to develop treatment and diagnostics
  • Development of companion diagnostics based on target gene/ protein/ compound
Eun Wie Cho
/ Principal Researcher
  • dentification of molecular diagnosis biomarker related to cancer cell and research on the deterrent of cell resistance
  • Identification of biomarker based on autoimmune antibodies in the blood of cancer patients
Jae-Ran Lee
/ Principal Researcher
  • Research on the formation of neurological synapses and mechanism of neurological development control
  • Analysis on the proteome of brain/neurological diseases and research on mechanism
Dae-Soo Kim
/ Senior Researcher
  • Development of technology to analyze and utilize whole genome/ exome genome information based on NGS/support
  • Establishment of genome database and operation of analysis system
Da Yong Lee
/ Senior Researcher
  • Identification of the cause of rare brain diseases and diagnostic marker
  • Identification of the mechanism of brain development diseases through functional research on neural stem cells
Jeong Ju Lee
/ Principal Technician
  • Identification and management of human gene clone and manage Korea Human Gene Bank
Yong Jae Lee
/ Senior Technician
  • Establishment and operation of DB related to human gene clone
research areas
  • Securing high quality clinical sample, clinical information and genome information related to rare neurological diseases
  • Establishment of Korean standard CNV map for rare neurological diseases and establishment of integrated DB
  • Development of precise diagnostics original technology related to rare neurological diseases
  • Exploration of precision, customized treatment target related to rare neurological diseases and identification of function and mechanism
Achievements
  • Discovery of new variation regarding the cause of brain development disorder and development of animal model
    • Finding out that various de novo mutations in nerve cell specific KIF1A motor domain cause intellectual developmental disorder, spastic paralysis, axon disorder, cerebellar atrophy
    • Production of in vivo animal model related to TSC genetic brain developmental diseases
    • Completion of the system to identify brain developmental disease diagnostics marker using in vitro neural stem cell cultivation system
  • Establishment of the disease specific large NGS genome data production and analysis pipeline
    • Completion of the system development for handling, processing and analyzing large volume NGS genome data and multiple bio big data in different data structure
    • Identification of various SNV/INDEL candidates related to diseases using clinical sample and NGS data in Public DB and establishment of technology for integrated analysis of genome information and information standardization
    • Establishment of CNV map and DB related to diseases
  • Identification of targets and research on mechanism to genome based treatment
    • Presenting the role of TIPRL resistant to new TRAIL carcinostatis substance as a TRAIL sensitizer
    • Securing the Site specific Histone methylation
    • Patent registration related to new GPCR protein and other purposes (US, Europe, China)
    • Identification of biomarker, development of cancer diagnostics and commercialization based on autoimmune antibodies in the blood
    • Establishment of the infrastructure for whole human genome clone and expression clone necessary for the functional research on disease target
Outstanding Papers
  • Nam-Soon Kim (Corresponding) Developmental Biology. 15;400(2):248-57. 2015
    • ITF46 plays an essential role in cilia development.
  • Nam-Soon Kim (Corresponding) and Hyun-Soo Cho (First) Oncotarget. 15;6(27):23837-44. 2015
    • Direct regulation of E-cadherin by targeted histone methylation of TALE-SET fusion protein in cancer cells.
  • Nam-Soon Kim (Corresponding) and Hyun-Soo Cho (First) Molecular Carcinogenesis. (in press). 2015
    • Novel TRAIL sensitizer Taraxacum officinale F.H. Wigg enhances TRAIL-induced apoptosis in Huh7 cells
  • Jae-Ran Lee (First) Human Mutation 36(1):69-78. 2015
    • De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy and cerebellar atrophy.