NIH R01 · 2025
Pathogenic Mechanisms of Craniometaphyseal Dysplasia
Project Summary/Abstract Investigating pathogenic mechanisms for rare Mendelian disorders is important not only to identify therapeutic strategies for lifelong debilitating diseases but also to understand fundamental biological mechanisms. In this renewal application, we propose mechanistic and translational studies for craniometaphyseal dysplasia (CMD), an understudied craniotubular bone disorder characterized by lifelong progressing hyperostosis of craniofacial bones and abnormal shape of long bones. Continued bone accrual in CMD can lead to excruciating headaches, blindness, deafness, and facial palsy. Severe cases can be life-threatening. CMD patients are treated with repetitive, costly…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.