Federal Grant Award Summary

The National Institute of Dental and Craniofacial Research (NIDCR) awarded The University of Kentucky Research Foundation a $154,000 Project Grant effective March 1, 2026, through February 28, 2027, under the Oral Diseases and Disorders Research program (CFDA 93.121). The grant funds research to elucidate the etiology of Schneckenbecken Dysplasia (SBD), a rare congenital skeletal disease caused by mutations in the SLC35D1 gene. The research employs Xenopus tropicalis (African clawed frog) vertebrate models with CRISPR-generated patient-specific variants to investigate how loss of SLC35D1 function impairs chondrogenesis and craniofacial cartilage development.

The deliverables include mechanistic insights into the developmental timing of neural crest disruption in SBD, characterization of how patient-specific variants affect facial phenotypes, and determination of how SLC35D1 loss alters extracellular matrix composition and mechanical signaling during chondrogenesis. The research will establish tractable disease models for SBD with the specific goal of supporting the development of therapeutic approaches for this rare disease. Results will advance understanding of extracellular matrix function in craniofacial development and provide a foundation for future therapeutic interventions.