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Gabsang Lee, Ph.D.

Assistant Professor of Neurology


  • Assistant Professor of Neurology
  • Assistant Professor of Neuroscience

Centers & Institutes

  • Cell Engineering, Institute for


Muscular Dystrophies, Pain, Peripheral Nerve Disorders

Research Interests

Facioscapulohumeral muscular dystrophy; Duchenne muscular dystrophy; Skeletal muscle; Neural crest cell biology; Peripheral nerves disease; Familial Dysautonomia; Congenital Insensitivity of Pain and Anhidrosis; Charcot-Marie-Tooth 1A


Dr. Lee is currently Assistant Professor in the Department of Neurology and Neuroscience at Johns Hopkins School of Medicine, where he continues his research on peripheral nerve disease (Charcot-Marie-Tooth, Congenital insensitivity to Pain and Anhidrosis, Familial Dysautonomia) and muscular dystrophies (Duchenne muscular dystrophies, Facioscapulohumeral muscular dystrophies). His lab has established a novel methodology for direct derivation and prospective isolation of peripheral neurons, Schwann cells and skeletal muscle, from human pluripotent stem cells of diseases. Using these patient-specific model, they are studying disease mechanism and testing therapeutic compounds. 


  • English


2010-Curr. Member of International Society of Stem Cell Research (ISSCR)


Additional Resources +
  • Education +


    • B.S. and D.V.M., Seoul National University, Seoul, Korea, 2000, Veterinary Medicine
    • Ph.D., Seoul National University, Seoul, Korea, 2004, Veterinary Medicine (Theriogenology)
  • Research & Publications +

    Research Summary

    The Lee lab focuses on neural crest and skeletal muscle lineages using human embryonic stem cells (hESC) and human induced pluripotent stem cells (hiPSC). Neural crest cells emerge in early development and they are a multipotent population that can give rise to more than 30 different cell types. Human myogenesis has not been studies in great details. To understand the neural crest and skeletal muscle specification process, his lab is employing multiple genetic reporter system in hESCs to isolate specific subsets to get purified cell types, which will be used to study development and disease progression.

    Previously, Lee studied neural crest stem cells created from fibroblasts of patients with Familial Dysautonomia (FD), also known as Riley-Day syndrome, an inherited genetic condition that affects the peripheral nervous system. Although researchers know that FD is caused by a single point mutation in the IKBKAP gene, they do not know why symptoms, like inability to feel pain and changes in temperature, manifest. He found that FD neural crest cells expressed low levels of genes needed to make autonomous neurons—the ones needed for the “fight-or-flight” response. The FD neural crest cells also moved around less than normal neural crest cells. In an effort to discover novel drugs to treat FD, he performed high throughput screening of 7,000 compounds using FD patient-derived neural crest stem cells to look for compounds that increased gene expression and protein levels of autonomous neuron developmental components. A few compounds tested partially rescued the FD neural crest stem cell phenotypes. From this work, Lee will establish FD neurons from patient’s cells to determine how and why these neurons die. He will use the high throughput drug core from the Department of Pharmacology and Molecular Sciences to look for drugs that prevent FD-specific neuronal cell death and find novel treatments for the disease.

    Lee established a protocol using hiPSCs to create Schwann cells, the neurons’ helper cells that create the myelin sheaths that insulate neurons. He will use this protocol to great Schwann cells from patients with Charcot-Marie-Tooth 1A (CMT1A)—the most common genetic disorder of the peripheral nervous system that causes demyelination of neurons that results in loss of muscle and sensation. Although CMT1A is a relatively rare disease, the results and benefits from these studies may be applied to other peripheral nerve diseases or neuropathies.

    Lee lab is also using patients’ cells to study Congenital Insensitivity of Pain and Anhidrosis (CIPA), a condition that affects the pain sensing nociceptive neurons and prevents patients from feeling pain, heat and cold. Lee will study the pathogenesis of the disease and search for potential treatments. Understanding this disease and how nerves detect pain may also lead to the development of better pain killers.

    Currently they are expanding their research efforts on skeletal muscle disorders, Duchenne muscular dystrophy and facioscapulohumeral muscular dystrophy.

    Selected Publications

    1. Efficient Generation Human Induced Pluripotent Stem Cells from Human Somatic Cells with Sendai-virus. Choi IY, Lim H, Lee G. J Vis Exp. 2014 Apr 23;(86). doi: 10.3791/51406. PMID: 24798302
    2. Dual-SMAD Inhibition/WNT Activation-Based Methods to Induce Neural Crest and Derivatives from Human Pluripotent Stem Cells. Chambers SM, Mica Y, Lee G, Studer L, Tomishima MJ. Methods Mol Biol. 2013 Dec 4. [Epub ahead of print] PMID: 24301074
    3. Candidate ALS therapeutics motor toward "in vitro clinical trials". Kim YJ, Lee G. Cell Stem Cell. 2013 Jun 6;12(6):633-4. doi: 10.1016/j.stem.2013.05.009. PMID: 23746968
    4. Modeling neural crest induction, melanocyte specification, and disease-related pigmentation defects in hESCs and patient-specific iPSCs. Mica Y, Lee G, Chambers SM, Tomishima MJ, Studer L. Cell Rep. 2013 Apr 25;3(4):1140-52. doi: 10.1016/j.celrep.2013.03.025. Epub 2013 Apr 11. PMID: 23583175
    5. Large-scale screening using familial dysautonomia induced pluripotent stem cells identifies compounds that rescue IKBKAP expression. Lee G, Ramirez CN, Kim H, Zeltner N, Liu B, Radu C, Bhinder B, Kim YJ, Choi IY, Mukherjee-Clavin B, Djaballah H, Studer L. Nat Biotechnol. 2012 Dec;30(12):1244-8. doi: 10.1038/nbt.2435. Epub 2012 Nov 25. PMID: 23159879


    The Lee Lab

    CORE Facilities

    Stem Cell Core Facility

  • Academic Affiliations & Courses +
  • Activities & Honors +


    2009-2011 New York Stem Cell Foundation Druckenmiller Fellowship (USA)

    2011-Curr. New York Stem Cell Foundation Robertson Investigator, (USA)

    Professional Activities

    2004-2007 Postdoctoral Researcher (Sloan Kettering Institute, USA)

    2007-2007 November, BK21 Research Professor (Seoul National University, Seoul, Korea)

    2007 December - 2008 Research Professor (Korean University Medical Center, Seoul, Korea)

    2008-2011 Postdoctoral Research Associate (Sloan Kettering Institute, USA)

    2011-Curr. Assistant Professor, Department of Neurology and Neuroscience, Institute of Cell Engineering, Johns Hopkins University, Baltimore, USA

  • Videos & Media +
  • Events +
  • Contact & Locations +


    • Neurology
    • Neuroscience

    For Research Inquiries Contact

    Phone: 443-287-8631

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