NIH Reporter #5F30HD117560-02

INVESTIGATING THE CONTRIBUTION OF OSTEOBLAST DIFFERENTIATION IN THE PATHOGENESIS OF OSTEOGENESIS IMPERFECTA TYPE V

Research project funded by NICHD to study the genetic mutation causing osteogenesis imperfecta type V and develop targeted therapies by investigating osteoblast differentiation and TGF-β signaling.

Description

This project aims to determine how the c.-14C>T point mutation in the 5’ untranslated region of the osteoblast gene, IFITM5, causes osteogenesis imperfecta type V (OI-V). It will investigate the role of the TGF-β signaling pathway in OI-V development and evaluate therapies targeting this pathway or the mutation itself to promote normal osteoblast development. The research seeks to identify a novel mechanism of OI-V pathogenesis and validate new therapies using preclinical models.

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