We are interested in gene regulation and how the genetic background of an individual influences cellular phenotypes. Specifically, we study how gene regulatory differences among individuals affect clinical heterogeneity in rare genetic diseases. We use human induced pluripotent stem cells (iPSC) as disease models, and combine both computational and experimental cellular genetics methods to characterise gene regulatory mechanisms in iPSCs and iPSC-derived cell types. We work closely with the Human Induced Pluripotent Stem Cells Initiative (HipSci).