Bone abnormalities in genetic disease

SA Pathology researchers WCH

Skeletal disease is a common feature of a number of inherited metabolic disorders and due to the relatively poor blood supply serving the bone, the tissue is largely resistant to treatments.

In children, the skeletal system does not grow and develop properly leading to lifelong impairments in bone and joint morphology impairing mobility, causing pain, dysmorphism and patients typically have a short, malformed stature.

In adolescents and adults, this typically manifests as bone and joint pain often coupled with avascular necrosis.

The immune system is believed to be involved and bone homeostasis perturbed, but the process is poorly understood.

This project will employ cell models, including osteoblasts (bone forming cells) and osteoclasts (bone remodelling cells), in order to understand bone dynamics in inherited metabolic disorders with the ultimate aim of uncovering new opportunities for therapeutic intervention.

Researcher photo Maria Fuller


Professor Maria Fuller

Co-supervisorsDr Nathan Rout-Pitt | Dr Jennifer Saville

Research area: Genetics and molecular pathology

Recommended honours enrolment: Honours in Molecular and Biomedical Science

Tagged in Honours projects - Molecular and biomedical science, Honours projects - Molecular and biomedical science: Genetics, Honours projects - Molecular and biomedical science: Biochemistry, Honours projects - Maria Fuller