Bone abnormalities in genetic disease
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.
Genetics and molecular pathology
Our laboratory is embedded within Genetics and Molecular Pathology in the state-wide pathology service, SA Pathology, providing diagnostic services for patients with inborn errors of metabolism throughout Australia.
These are single gene disorders resulting from defects in the biochemical pathways of the body.
For a handful of these diseases treatments are available, and for others clinical trials are ongoing, but for the vast majority there is no clinically approved therapeutic pathway.
Consequently, these diseases can have a devastating impact on the child and family representing a significant portion of childhood disability and death.
The laboratory’s primary research focus is to improve the diagnostic efficiency of these disorders and to investigate therapeutic strategies.