The National Institute of Dental and Craniofacial Research awarded The Johns Hopkins University $107,828 under the Oral Diseases and Disorders Research program (CFDA 93.121) on December 4, 2026.
The funding supports research to identify missing genetic components and characterize the phenotypic landscape of cleidocranial dysplasia (CCD), an autosomal dominant skeletal dysplasia that impairs mobility, eating, and communication and increases susceptibility to osteoporosis. Approximately 70 percent of CCD cases carry pathogenic variants in RUNX2, a master regulator for skeletal development, leaving roughly 30 percent of clinically diagnosed cases without identified genetic etiology. Recent work has identified pathogenic variants in CBFB in eight patients with CCD diagnosis. The research leverages collaboration with CCD SMILES, the largest nonprofit patient support group specific to CCD. The project team has recruited a cohort of 115 patients with CCD and unaffected family members, completed comprehensive physical and dental examinations, and collected DNA samples for high-throughput sequencing analysis.
Performance occurs in Maryland. The period of performance extends through June 21, 2028.