Mutant huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure

Huntington's Disease (HD) is a devastating neurodegenerative disorder that remains incurable and poorly understood. Over the last decade, research has revealed that HD disrupts mitochondrial function—essential for energy production in brain cells—and that its effects may arise as early as pre-natal brain development. To better understand this disease, my team utilized cutting-edge human pluripotent stem cell-derived brain organoids combined with genome editing techniques. These models allowed to replicate key aspects of the disease and uncover early dysregulation of the protein CHCHD2, which is crucial for mitochondrial function.

In her talk, the presenter will explain how her research reduces the reliance on animal testing by using innovative stem cell-based models to better capture human brain biology.

She will also highlight how advancing these models can accelerate drug discovery and personalized medicine while embodying the principles of the 3Rs.