Research area:  Stem cell biology

Understand the genetic basis for cartilage, bone and muscle disorders, characterise how mutations change cell behaviour and signalling pathways and identify and test new therapies.

Human skeletal development and bone, cartilage and joint function are determined by complex interactions of developmental signalling processes. Genetic and acquired disorders affecting these tissues are common and targeted therapies to treat these disorders are not available. Our research aims to understand the molecular basis of these disorders to improve diagnosis and counselling, identify new therapeutic targets and test the effectiveness of new treatments to ultimately improve the quality of life of children with these debilitating conditions.

The laboratory research is led by Assoc Prof Shireen Lamandé and Professor John Bateman and aims to understand the genetic basis of cartilage and bone disorders. Researchers are investigating how these mutations disturb normal tissue development and growth, using molecular and cell biology to dissect disease mechanisms in mice and cell cultures. The team is interested in how cell stress resulting from protein misfolding mutations is involved in disease and how this could be targeted with drugs to improve cellular health.

The group has research programs using induced pluripotent stem cells (iPSCs – stem cells generated from adult cells) to model human genetic disease in the lab and test potential new therapies before progressing promising new drug therapies into pre-clinical testing in mouse models. Researchers are seeking to understand the role of microRNA epigenetic regulation in joint disease, and to generate iPSC-derived cartilage for tissue repair.