Using cellular and animal models which enable us to dissect cell-specific and time-dependent cellular mechanisms, we are resolving the functional and developmental consequences of molecular interactions to better understand how genetic changes result in disease initiation and progression. Research in the Francis lab primarily takes advantage of the process of cellular reprogramming to generate induced pluripotent stem cells (iPSCs) from patients exhibiting rare diseases, allowing us to model these diseases, identify cellular phenotypes, and delineate disease mechanisms in the laboratory. Using a variety of technical approaches, our goals are to define the cellular mechanisms underlying rare diseases resulting from various genetic mutations, identifying signaling pathways and targets amenable to patient therapy.