Pediatric Metabolic Medicine

We bridge two research areas: i) human induced pluripotent stem cells (iPSCs)-based neuronal disease modeling, and ii) mitochondrial metabolism. We use patient-derived iPSCs to generate neuronal/glial cells and cerebral organoids carrying patient-specific mutations within nuclear DNA or mitochondrial DNA. With these model systems, we aim to dissect how mutations affecting mitochondrial function can trigger neuronal pathology. After having identified mutation-specific cellular phenotypes, we carry out high-throughput screenings to identify potential therapeutic compounds. 

We integrate stem cell reprogramming technology, neuronal and glial differentiation in 2D and 3D (cerebral organoids), CRISPR/Cas9-based genome engineering, and mitochondrial assays with high-content analysis (HCA) and compound screenings.