Developing a novel diagnostic platform to study Neuromuscular disease, especially Charcot-Marie-Tooth disease (CMT), and aid the development of new treatments which will improve patient quality of life is my specific interest. I have a broad background in clinical, biological and stem cell tissue engineering in key research areas. My laboratory has researched CMT for 25 years, and it was designated as a Rare Neurological Diseases Translational Research Center by the Korean Ministry of Health. The work in my lab focuses on isolating the specific mutations that cause genetically heterogeneous CMT using next generation sequencing. We also work extensively on the development of new therapeutic small molecules using stem cell technology and animal models. Currently, I have been performing functional studies on 10 novel CMT genes. Additionally, I had made five CMT patient-derived induced pluripotent stem cell (iPSC) lines, and I have collected more than 200 CMT patient-derived skin fibroblasts or kidney epithelial cells. I have developed and explored new therapeutic options using iPSCs derived from patient's fibroblasts. In addition, my group has also developed two kinds of transgenic mouse models and four different types of zebrafish models, which facilitate the evaluation of new drugs. This study is meaningful in terms of research that can directly benefit patients and families with Charcot-Marie-Tooth disease.