Patient-Derived Organoids Recapitulate Pathological Intrinsic and Phenotypic Features of Fibrous Dysplasia

Fibrous dysplasia (FD) is a rare bone disorder characterized by the replacement of normal bone with benign fibro-osseous tissue. Developments in our understanding of the pathophysiology and treatment options are impeded by the lack of suitable research models. In this study, we developed an in vitro organotypic model capable of recapitulating key intrinsic and phenotypic properties of FD. Transcriptomic profiling of individual cells isolated from patient lesional tissues revealed extensive intralesional molecular and cellular heterogeneity, indicative of pathogenic fibrotic processes. Overall design: A total of 3 craniofacial fibrous dysplasia tissue samples were collected from each patient (n=3) and analyzed using scRNA-seq.