We are interested in the molecular mechanisms that cause critical illness in infants and children. We enroll patients with birth defects or other critical illness that cannot be explained by an acquired illness and perform exome sequencing in order to identify candidate genes that may explain the child's disease. Then we model the candidate gene in order to understand its function. In the context of birth defects, we employ the high-throughput human disease model, Xenopus tropicalis in which we can knockout desired genes and examine consequent phenotypes in just three days.

Traditionally gene discovery in these patients was very challenging, but now not only is candidate gene discovery feasible but we can rapidly model the human disease and understand gene function in model organisms or patient cells depending on the optimal approach.