Our research is devoted to develop disease models based on genetic mutations that cause human diseases, and to understand basic molecular pathology using these models. To achieve this goal, we use a variety of approaches, including fly genetics, genomics, proteomics, metabolomics, induced pluripotent stem cells, brain organoids and cellular/molecular biology such as the CRISPR/Cas9 system. The final goal is discovering druggable targets and developing therapeutic strategies in this process.
Currently we focus on neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD) and multisystem proteinopathy (MSP).
Many mutations in a variety of genes have been identified as the cause of neurodegenerative diseases, including ALS and FTD. Genes that cause this disease can be divided into four broad categories: RNA homeostasis, protein homeostasis, cytoskeletal dynamics and mitochondria. The most interesting question, therefore, is how functionally different gene groups can cause clinically indistinguishable diseases. Perhaps the simplest explanation is that all disease-inducing genes share a final effector or affect the common cell pathway to cause disease. Another possibility is that gene groups are closely linked and affect each other. So the end result is always similar, no matter which gene has a mutation. It is not clear what is actually true. To answer the question and develop treatment strategies, we must understand how mutant genes in each group cause disease and what is common to that mechanism.