Our lab is interested in understanding the mechanisms involved in human brain diseases. We have developed new research directions utilizing in vitro and in vivo approaches to model neurodevelopmental diseases associated with seizure such as focal malformation of cortical development and linear nevus sebaceous syndrome.
We are exploring the stem cell-based model to further highlights pathogenic mechanisms and pharmacoresistant seizure to identify new avenues for targeted therapeutic intervention. Potential future therapies may include pharmacologically targeting defective gene regulatory networks and will require extensive understanding of the genetic, cellular, and molecular mechanisms controlling neurological development and function.
We will take advantage of the unique animal and stem cell models to investigate the molecular mechanisms of neurodevelopmental diseases associated seizures and uncover fundamental processes governing normal brain development and function.

신경발달질환은 뇌를 포함한 중추신경계의 기능 이상과 관련되어 나타나는 발달장애를 말하며, 종종 뇌전증(간질)과 동반되어 나타나기도 합니다. 상당수 신경발달질환은 평생 치료와 사회적 복지가 필요한 영구장애로 진행되기 때문에 병증을 조기에 발견하여 적절한 치료를 하는 것이 장애를 최소화하고 발달격차를 줄이는데에 중요합니다. 신경유전학 연구실은 유전정보를 분석하여 병인을 찾아내고 생쥐 및 줄기세포 등의 모델시스템을 사용하여 환자에게서 발견되는 유전적 결함이 어떻게 질환을 유발시키는지에 대한 연구를 수행하고 있습니다. 또한 이에 대한 이해를 바탕으로 기존에는 난치병 또는 불치병으로 알려졌던 이들 질환에 대한 새로운 치료전략을 개발하는 연구가 활발히 진행되고 있습니다.

본 연구실에서는 다음과 같은 연구주제로 학사논문연구를 진행할 수 있습니다.
1. 신경발달질환 환자의 유전체 및 조직병리 분석
2. 줄기세포를 활용한 유전자 변이에 의한 신경발달질환 모델 연구
3. 생쥐모델을 사용한 신경발달질환 병인 유전자들의 발달병리기전 분석
4. 미진단 희귀 뇌 질환 환자 유전자 변이의 기능성 분석

• ㆍCellular and molecular genetics of neurodevelopmental diseases
• ㆍDevelopment of novel treatment strategy of epilepsy using stem cell/animal models
• ㆍNeurodevelopmental function of oncogenic mutations found in brain tumor

• ㆍYun EJ, Kim D, et al., (2023) Targeting Wnt/β-catenin-mediated upregulation of oncogenic NLGN3 suppresses cancer stem cells in glioblastoma. Cell Death&Disease, 14(7):423.
• ㆍKim YE, Kim YS, et al., (2023) Reversibility and developmental neuropathology of linear nevus sebaceous syndrome caused by dysregulation of the RAS pathway. Cell Reprots, 42(1):112003.
• ㆍYun EJ, Kim D, et al., (2022) Stanniocalcin 2 drives malignant transformation of human glioblastoma cells by targeting SNAI2 and Matrix Metalloproteinases. Cell Death Discovery, 8(1):308.
• ㆍWenderski W, Wang L, et al., (2020) Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism. PNAS, 117(18):10055-10066.
• ㆍYun EJ, Kim S, et al., (2020) Wnt/β-catenin signaling pathway induces autophagy-mediated temozolomide-resistance in human glioblastoma. Cell Death&Disease, 11(9):771.
• ㆍYun EJ, Lin CJ, et al., (2019) Downregulation of Human DAB2IP Gene Expression in Renal Cell Carcinoma Results in Resistance to Ionizing Radiation. Clinial Cancer Research, 25(14):4542-4551.
• ㆍSchaffer AE, Breuss MW, et al., (2018) Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nature Genetics, 50(8):1093-1101.
• ㆍBaek ST, Copeland B, et al., (2015) An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development. Nature Medicine 21, 1445-54.
• ㆍYun EJ, Baek ST, et al., (2015) DAB2IP regulates cancer stem cell phenotypes through modulating stem cell factor receptor and ZEB1. Oncogene 34, 2741-52.
• ㆍBaek ST, Kerjan G, et al., (2014) Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous microRNA dysregulation. Neuron 82, 1255-62.

• ㆍB.S., Chungnam National University, Daejeon, Korea (1999)
• ㆍM.S., Chungnam National University, Daejeon, Korea (2007)
• ㆍPh.D., University of Texas Southwestern Medical Center, TX, USA (2012)

• ㆍ2012-2014 : Postdoctoral Fellow, Univ. of California San Diego, CA, USA
• ㆍ2014-2017 : Postdoctoral Fellow, The Rockefeller University, NY, USA
• ㆍ2017-Present : Associate Assistant Professor, Dept. of Life Sciences, POSTECH

• ㆍAmerican Heart Association, Predoctoral Fellowship (2010)
• ㆍWeinstein Cardiovascular Development Conference, Travel Award (2011)
• ㆍBrain and Behavior Research Foundation, NARSAD Young Investigator Award (2015)