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Identifying the Missing Genetic Components and Characterizing the Phenotypic Landscape of Cleidocranial Dysplasia

Award Number: F31DE035013
ORGANIZATION: NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: FELLOWSHIP/SCHOLARSHIP/STUDENT LOANS
PERIOD OF PERFORMANCE START DATE: 06/22/2026
PERIOD OF PERFORMANCE END DATE: 06/21/2028

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Identifying the Missing Genetic Components and Characterizing the Phenotypic Landscape of Cleidocranial Dysplasia - Project Summary Cleidocranial Dysplasia (CCD, OMIM: 119600) is an autosomal dominant skeletal dysplasia characterized by deformity of the teeth and bones resulting in impairment of mobility, eating, communication, decreased quality of life and higher susceptibility to osteoporosis, and skeletal pain. However, the CCD phenotype is highly variable and not fully characterized. Heterozygous pathogenic variants in RUNX2, a master regulator for skeletal development, have been identified in approximately 70% of patients with CCD . This leaves approximately 30% of CCD cases that are clinically diagnosed, but do not present with a pathogenic variant in RUNX2. Recently, pathogenic variants in CBFB have been identified in 8 patients that had the clinical diagnosis of CCD. The proposed project aims to 1) comprehensively define the CCD phenotype and 2) identify the missing genetic etiology of CCD by leveraging a collaboration with CCD Smiles, the largest nonprofit patient support group specific to people with CCD. To complete these aims we have recruited a cohort of 115 patients with CCD and their unaffected family members and completed a comprehensive physical examination, dental examination, and collected DNA samples for high-throughput sequencing analysis.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2026 ( Subtotal = $53,914 )
2026	2026	THE JOHNS HOPKINS UNIVERSITY	3400 N CHARLES ST	BALTIMORE	MD	21218	BALTIMORE CITY	USA	Oral Diseases and Disorders Research	001	1	6/8/2026	NEW	$0
2026	2026	THE JOHNS HOPKINS UNIVERSITY	3400 N CHARLES ST	BALTIMORE	MD	21218	BALTIMORE CITY	USA	Oral Diseases and Disorders Research	000	1	6/8/2026	NEW	$53,914
														Subtotal = $53,914

Grand Total All Awards = $53,914

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Identifying the Missing Genetic Components and Characterizing the Phenotypic Landscape of Cleidocranial Dysplasia

Award Number: F31DE035013

ORGANIZATION: NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: FELLOWSHIP/SCHOLARSHIP/STUDENT LOANS

PERIOD OF PERFORMANCE START DATE: 06/22/2026

PERIOD OF PERFORMANCE END DATE: 06/21/2028

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