Current page location

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
researchers and research statement
Name Research Fields
Nam-Soon Kim
(Associate Director)
  • Genome and functional study of rare neuronal diseases
  • Functional genomics of cancer
  • Management of Korea Human Gene Bank (KHGB)
Jae-Ran Lee
  • Functional analysis of synaptic molecules related to rare neuronal diseases
  • Discovery of biomarkers for early diagnosis of neuro developmental disorders
Kyung Sook Chung
  • Development of molecular diagnostics for rare neuronal diseases
  • Cancer therapies development
  • Development of biomimetic 3D liver and toxicity analysis platform
Eun-Wie Cho
  • Cancer molecular cell biology and biochemistry
  • Development of molecular diagnostics for rare neuronal diseases
Dae-Soo Kim
  • Genome study of neurological disorder genes using NGS
  • Construction of genome analysis infrastructure for neurological disorders
Da Yong Lee
  • Neuroscience
  • Developmental neurobiology
Jeong Ju Lee
  • Large-scale collection and distribution of human cDNA clones
  • Operation of Korea Human Gene Bank (KHGB)
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