My research is focused on screening and characterization of splice-regulating small molecule compounds for disease-causing splicing mutations. RNA splicing is one of fundamental steps in the eukaryotic gene expression system, and its aberrant regulation is estimated to account for 30-35% of causal mutations in genetic diseases. Although splicing mutations disrupting essential nucleotides (e.g. GT/AG at splice donor/acceptor sites) cannot be managed, a subset of disease-associated missplicing can be interrupted by targeting splicing auxiliary factor(s) that selectively acts on disease-causing splicing. In order to evaluate activity of small molecule compounds for specific target splicing mutations, we apply SPREADD reporter system (Figure), a dual-colored fluorescent splicing reporter invented by Dr. Hagiwara in Kyoto University (Yoshida M et al. PNAS 112(9):2764-9), in combination with original focused-library for splice-regulating compounds. We currently apply this strategy for various types of splicing mutations, including pseudo exon creation by deep-intronic mutations. Through this approach, I aim to identify novel small molecule compounds and their functional mechanisms for responsive missplicing diseases toward a practical application.
Assistant professor, Dept. of Drug Discovery Medicine, Kyoto University Graduate School of Medicine, Japan
2013, Jan-2016, Apr.
Visiting Fellow, Gene Regulation and Chromosome Biology Laboratory, National Cancer Institute, NIH, USA.
2010, May-2012, Dec.
Visiting Fellow, HIV and AIDS Malignancy Branch, National Cancer Institute, NIH, Bethesda, USA.
2007, Apr.-2010, Mar.
Ph.D. The University of Tokyo, Institute of Medical Science, Japan.
2005, Apr.-2007, Mar.
M.Sc. Tohoku University, Institute of Development, Aging and Cancer, Japan.
2001, Apr.-2005, Mar.
B.Sc. Tohoku University, Dept. of Applied Chemistry, Chemical Engineering and Biomolecular Engineering, Japan.
Publication list（Link to NCBI PubMed）
Address: Bldg. C/Rm. 305, Yoshida-konoe-cho, Sakyo-ku, Kyoto city, Kyoto, Japan, 606-8501