Congenital central hypoventilation syndrome (CCHS, “Ondine’s curse”) is a disorder in which infants lack the ability to breathe normally during sleep due to a developmental defect. Patients usually require lifetime mechanical ventilation during sleep in order to survive. As with many birth defects, patients usually aren’t identified until after it is too late to correct abnormal brain development.

We are working on ways to restore breathing in animal models of CCHS by activating alternative respiratory circuits during sleep. We have shown that V2a interneurons are important for maintaining normal breathing rhythm by providing excitatory drive to respiratory centers.

Our lab will test the hypothesis that increasing the firing activity of V2a neurons during sleep can compensate for the developmental defect which causes CCHS and restore breathing. These studies will be used to develop therapies with the potential to treat CCHS and other developmental defects.