The Chen Lab at Baylor College of Medicine is currently investigating CWC27 mutations in vivo and in vitro. The Chen Lab developed a recessive mouse model, Cwc27K338fs, which recapitulates the phenotype of a patient with RP that has a similar genetic variant. They are employing histological, functional, and molecular studies to characterize the disease progression and develop a detailed phenotype. Additionally, the mouse model will be used to study the mechanism of disease and identify therapeutic options.
CWC27