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.
We have developed an international registry for the disorder termed Christianson syndrome, caused by genetic mutations in the gene NHE6 on the X-chromosome in boys. At present, we have enrolled approximately 40 families internationally which now extends across 14 countries and is the largest cohort of families with this condition. Through this work we have developed stem cells as an experimental platform in the laboratory to screen candidate therapeutics. The first candidate therapeutic screen on the stem cells of affecting children is nearly at the completion stage.