My background is in mathematics (BA, Swarthmore College, USA), medical science (MSc, Kyoto University, Japan), and medicine (MD, Tokai University, Japan). I started my scientific career working with drugs to treat diseases caused by mRNA splicing defects, where I was trained in molecular biology and bioinformatics. I have then moved to the clinic to better understand the motivation and consequences of drug development.
In 2020, I encountered a perplexing patient who suffered from a long term fever of unknown origin and unexplained cytopenia, just when a new disease, VEXAS syndrome, was discovered. We have now learned that his hemato-inflammatory symptoms stemmed from UBA1 mutation-associated clonal hematopoiesis. Whether the inflammation caused cytopenia is unclear, and ever since I have been interested in inflammation in haematological disorders.
My research interest lies in clarifying the relationship between inflammation, clonal expansion and cell death. At MLL we have access to a rich collection of whole genome and transcriptome data of MDS patients. The approach is to computationally infer the expression state of different clones from the available bulk sequencing data. We can then describe the inflammatory state at the single-cell level, and identify therapeutic targets to effectively suppress the inflammation.
Being at the MLL, I also developed interest in refining and optimizing MDS diagnostics as well as providing tailored prognostic information based on new techniques to extract information from the NGS findings. It is a pleasure to work in an environment so close to clinical application.