Award
National Institute of Dental and Craniofacial Research 5R01DE034357-02
The role of primary cilia and C2cd3 in craniofacial skeletogenesis
Recipient
Cincinnati Children's Hospital Medical Center
Award Amount
$642,392.00
Ceiling
$642,392.00
Awarded
June 18, 2026
Identifier
5R01DE034357-02
Research project funded by NIDCR to study the role of primary cilia and C2cd3 in craniofacial skeletogenesis, focusing on the mechanisms of OFD14 ciliopathy and potential therapeutic targets.
Description
This project aims to elucidate the cellular and molecular mechanisms underlying Oral-facial-digital syndrome 14 (OFD14), a human ciliopathy caused by mutations in the centriolar protein C2CD3, characterized by craniofacial skeletal anomalies including cleft palate and micrognathia. The research focuses on determining if skeletal differentiation is impaired in human induced pluripotent stem cell-derived neural crest cells carrying OFD14-causing C2CD3 variants, investigating if C2CD3 functions to anchor the centriole to the actin cytoskeleton and if OFD14-causing variants impair this association, and assessing if C2CD3 mutations and variants impair Gli3/DNA and Gli3/co-factor binding, affecting Gli3 transcription.