Kaitlyn Flynn

Utilising graph-based network analysis frameworks, 'Graphia' is a powerful open source visual analytics application developed to aid the interpretation of large and complex datasets. For more details, see article by Freeman et al. (2022) . 'gRaphia' is an extension of the 'Graphia' application within the R environment, providing tools for network analysis and visualisation. 'gRaphiaExtra' provides additional functionality specifically designed for single-cell RNA-sequencing data, enabling users to seamlessly integrate and utilise existing 'Seurat' analysis outputs in 'gRaphia'. The package also provides supplementary functions to support and enhance the 'gRaphia' analysis framework.

Musculoskeletal diseases are a major health burden. Development of bone-active therapies has been hindered by limited understanding of the cells and genes that regulate the skeleton. We exploited the value of cross-species analysis and developed single-cell methodologies in skeletal tissues to define the critical endosteal compartment that regulates bone turnover. Thirty-four distinct cell types were identified, and disease-relevant cells prioritized using enrichment for rare skeletal disorder genes and bone-mineral-density-associated genes in an extended UK Biobank genome-wide association study. Functional validation was undertaken in over 1,000 genetically modified mouse models. Endothelial cells and vascular smooth muscle cells were identified as new skeletal-disease-relevant cells alongside osteoblast, chondrocyte and osteoclast cell lineages. Hundreds of cell-specific genes with unappreciated roles in skeletal pathophysiology were identified. This comprehensive cellular and molecular framework underpins skeletal physiology and disease and will help prioritize new therapeutic targets to accelerate development of therapies to treat musculoskeletal disease.

The University of Queensland's institutional repository, UQ eSpace, aims to create global visibility and accessibility of UQ’s scholarly research.

First reported case of Takenouchi–Kosaki syndrome in an African patient with a de novo likely pathogenic missense variant identified in the CDC42 gene.