Disease Research

Disease Research Using a Simple Model Organism, Drosophila

Through collaborative research with clinical institutions, we have found that data rapidly obtained from Drosophila experimental systems are well suited to complement human genome analyses, in silico approaches, studies using mouse models or human cultured cells, and clinical research.

Using this approach, we have contributed to the identification of causative gene variants underlying central nervous system disorders in rare diseases (Sci. Rep. 13(1):975, 2023; Eur. J. Med. Genet. 66(8):104804, 2023; Am. J. Hum. Genet. 110(8):1356–1376, 2023; Hum. Mol. Genet. 31(1):69–81, 2021). In addition, we have developed Drosophila models to evaluate the pathogenic significance of OPA1 variants responsible for autosomal dominant optic atrophy (ADOA) (eLife, 2023; reviewed preprint).

These studies demonstrate that research using Drosophila, a simple model organism, can effectively support and inform clinical research. Building on this foundation, we aim to further contribute to disease research by strengthening the link between experimental model systems and clinical studies.