Research in our lab focuses on the molecular genetics of the inherited neurological diseases, which include single gene and complex disorders. We are looking for the molecular pathological mechanisms for neurofibromatosis type 1 (NF1) and hereditary neurodegenerative diseases. A patient database with clinical details, electrophysiological findings as well as the genotypes has been established in recent years. In collaboration with Prof. Yi-Ping Hsueh, a new association protein for neurofibromin, the vasolin-containing protein, VCP has been identified. Further functional study elucidate that the VCP-neurofibromin complex plays an important role for dendritic spine formation which defects would result in mental subnormality, one of the clinical manifestations of NF1. Malignant change of plexiform neurofibroma leading to MPNST renders a devastating clinical outcome. We also studied on the disease progression and invasiveness of MPNST. While the large size of the tumors with difficulties in resection and no armamentarium, an alternative treatment way has been investigated. The photodynamic therapy (PDT) has demonstrated some effect in treatment of skin cancer, warts and wound healing. Prof. Chintin Chen and our group are working to examine the effectiveness of such a treatment in MPNST or large plexiform neurofibroma.
Recently, we have investigated the functional disturbance including the mechanism of pain and its associated alterations in electrophysiological indices, which were caused by a sodium channel mutation, SCN9A. The scopes of research include the cellular, axonal, and clinical electrophysiology. The findings make progress in our understanding of the neuropathic pain.