Development of vascular disease models to explore disease causation and pathomechanisms of rare vascular diseases

Abstract

As the field of medicine is striving forward heralded by a new era of next-generation sequencing (NGS) and integrated technologies such as bioprinting and biological material development, the utility of rare monogenetic vascular disease modeling in this landscape is starting to emerge. With their genetic simplicity and broader applicability, these patient-specific models are at the forefront of modern personalized medicine. As a collective, rare diseases are a significant burden on global healthcare systems, and rare vascular diseases make up a significant proportion of this. High costs are due to a lengthy diagnostic process, affecting all ages from infants to adults, as well as the severity and chronic nature of the disease. Their complex nature requires sophisticated disease models and integrated approaches involving multidisciplinary teams. Here, we review these emerging vascular disease models, how they contribute to our understanding of the pathomechanisms in rare vascular diseases and provide useful platforms for therapeutic discovery.

Keywords: Endothelia cell; Fibroblast; Monogenetic vascular disease; Rare vascular disease modeling; Smooth muscle cell; Vascular organoid; iPSC.