RFA 2c: Diseases of the nervous system

Our research focus is the establishment of human induced pluripotent stem cells (iPSCs) for modeling rare neurological diseases affecting mitochondrial function, particularly Leigh syndrome and Huntington's disease. We use patient-specific iPSCs to generate neuronal/glial cells and brain organoids on which we dissect how mutations affecting mitochondrial function can trigger neuronal pathology and then carry out high-throughput screenings to identify possible therapeutics. To reach these goals, we integrate stem cell reprogramming, neuronal and generation of brain organoids, mitochondrial DNA editing, mitochondrial assays, and high-content analysis (HCA) for compound screenings.