Developing Convergence Across Different Autism Genetic Subtypes

We are working to generalize the neuro developmental mechanisms in specific genetic subtypes of autism across different, related gene mutations. Genetic conditions such as Christianson syndrome and Angelman syndrome, are clearly related at the level of patient symptom. We are thus investigating mechanistic linkages with patient-cells in the laboratory. Our recent discoveries include abnormalities in mitochondrial function, the major energy source in cells, in postmortem brain tissue from people with autism. We are seeking convergence around mitochondrial mechanisms. 

Accordion Location