On Nov 20, 2024, researchers from the Wellcome Sanger Institute and collaborators have used cutting-edge genomic techniques to identify all the cells and pathways involved in the early stages of skeletal development. Part of the wider Human Cell Atlas project, this resource could be used to investigate whether current or future therapeutic drugs could disrupt skeletal growth if used during pregnancy.

The study showed a clear picture of how cartilage acts as a scaffold for bone development across the skeleton, apart from the top of the skull. The team mapped all the cells critical for skull formation and investigated how genetic mutations may cause soft spots in the skull of newborns to fuse too early, restricting the growth of the developing brain. In the future, these cells could be used as possible diagnostic and therapeutic targets for identifying and treating congenital conditions.

They also found certain genes activated in early bone cells that might be linked to an increased risk of developing hip arthritis as an adult. Comparatively, they suggest that other genes in early cartilage cells are linked to an increased risk of developing arthritis in the knee, possibly due to their role in cartilage repair. In the future, studying these different cells further could help develop new treatments for these conditions. Overall, the developing skeletal atlas is a freely available resource that can be used to understand more about bone development and how this influences conditions affecting these tissues that occur in children and adults. The study was published in Nature.