Genetic mutation discovery is only the first step in understanding the genetic etiology of neurodegenerative disorders. It is vital to further understand how these genetic mutations manifest themselves as a series of symptoms that we recognize as a disease.
The molecular genetics group uses a variety of approaches to translate the information gained from these genetic discoveries into useful therapies for patients. One set of approaches is to develop biological models of the disease that will allow us to test predictions about how damaging genes produce specific symptoms, and to use these to develop new therapies. More specifically, we might use cells in culture in the laboratory to try and understand the details of how cells are affected, and how we may reverse these changes.