Federal Project Grant Award Summary

The Southern California Institute For Research And Education received a $337,072 Project Grant award from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) under the Arthritis, Musculoskeletal and Skin Diseases Research program (CFDA 93.846), effective June 19, 2026 through March 31, 2031. This award funds basic research to elucidate the cellular and molecular mechanisms underlying CCDC120-associated osteopetrosis, a novel form of X-linked osteopetrosis identified in patients without mutations in previously characterized osteopetrosis causal genes. Research services include investigation of how loss of CCDC120 and its binding partner CYTH2 (Cytohesin-2) impairs osteoclast cytoskeleton organization and bone resorption capacity, with findings expected to advance understanding of this life-threatening osteoclast disease and inform potential therapeutic interventions.

The project builds upon pilot studies demonstrating that genetic deletion of CYTH2 downstream substrate ARF1 produces similar cytoskeleton defects in osteoclasts, suggesting a mechanistic pathway for osteopetrosis pathogenesis. Research activities conducted at the awardee's Long Beach, California facility will employ cell culture models, molecular analysis, and animal model systems to characterize the functional role of CCDC120 in osteoclast biology and bone metabolism, contributing to closing the remaining knowledge gap for approximately 10% of osteopetrosis cases currently classified as genetically orphan diseases.