Federal Grant Award Summary

The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) awarded a $614,390 Project Grant (CFDA 93.846) to the University of Georgia Research Foundation, Inc., with an award date of May 1, 2026, and completion date of April 30, 2031. This research project will investigate the molecular mechanisms of human myogenesis, specifically focusing on the CHAMP1 gene's role in CHAMP1 Syndrome, a severe developmental disorder characterized by muscle weakness and hypotonia. The research will deliver comprehensive molecular and functional analyses of CHAMP1's role in both embryonic and adult muscle development through tissue- and stage-specific mouse models, spatial transcriptomics analyses, and patient cell studies.

The project will produce detailed scientific outputs including characterization of CHAMP1's biochemical mechanisms of action, particularly its function as a MyoD co-factor regulating myomaker expression through zinc finger motifs and protein complex interactions. Deliverables will encompass RNA sequencing data, chromatin immunoprecipitation data, protein interaction analyses, and structural protein modeling using AlphaFold3. Additionally, the project will establish new animal models and identify molecular targets for studying and treating muscle symptoms in CHAMP1 Syndrome, providing critical mechanistic insights into how CHAMP1 mutations cause fusion myopathy and advancing therapeutic development opportunities in musculoskeletal disease research.