We are dedicated to understanding the molecular and cellular mechanisms underlying human neurological diseases caused by mutations in nuclear-encoded mitochondrial genes.
Our work integrates clinical genomics with functional studies in both Drosophila melanogaster and human cellular models, including neurons and brain organoids derived from patient-specific induced pluripotent stem cells (iPSCs). This multidisciplinary approach enables us to uncover how mitochondrial dysfunction impacts neural development and brain function.
Over the past few years, our lab has contributed to the discovery and molecular characterization of five distinct Mendelian mitochondrial disorders, including two novel syndromes—Harel-Yoon syndrome (MIM: #617183) and Yoon-Bellen neurodevelopmental syndrome (YOBELN, MIM: #619701). Most recently, we helped establish OGDH deficiency (OGDHD; OMIM #203740) as a new Mendelian condition caused by recessive variants in the OGDH gene.
We have developed a range of genetic tools and disease models in Drosophila and human iPSC-derived neural cells that allow us to investigate the biological functions of disease-associated mitochondrial genes, dissect their impact on metabolic and signaling pathways, and explore potential therapeutic strategies.
Our ultimate goal is to bridge the gap between gene discovery and clinical translation by advancing our understanding of mitochondrial biology in the context of neurodevelopment and disease
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