In addition, our group, in a study using 3D organoid cultures, also recently found that the Endothelial Per-Arnt-Sim domain protein 1 (EPAS1) encoding hypoxia-inducible factor-2A (HIF2A) is pivotally involved in mediating LOX-dependent ECM accumulation, resulting in a significant enhancement in the levels of orbital fat in patients with GO. The gene discussed is EPAS1; the disease is geroderma osteodysplastica.