Modelling human cartilage and bone disorders using pluripotent stem cells
- Research Opportunity
- Honours, Master of Biomedical Science
- Number of Honour Places Available
- Number of Master Places Available
- Royal Children’s Hospital/Murdoch Childrens Research Institute
|Associate Professor Shireen Lamandefirstname.lastname@example.org||8341 6465||Personal web page|
|Professor John Batemanemail@example.com||Personal web page|
Summary The overarching aim of this project is to exploit our genomic studies on bone and cartilage disorders to understand how the mutant genes cause disease and test drugs that target these disease pathways.
Genetic cartilage and bone disorders in children prevent normal skeletal development and function. In Australia around 100 babies per year are born with these debilitating conditions that cause lifelong disability. Of these conditions, osteogenesis imperfecta (brittle bone disease) and dwarfing chondrodysplasias stand out as particularly severe, sometimes lethal, and always having a major impact on quality of life. The overarching aim of this project is to exploit our genomic studies on bone and cartilage disorders to understand how the mutant genes cause disease and test drugs that target these disease pathways. We have developed new methods to differentiate stem cells into cartilage and bone cells and have patient-derived induced pluripotent stem cells (iPSCs), iPSCs with engineered mutations in our genes of interest, and appropriate isogenic controls. These iPSC lines will be used to model cartilage and bone disorders in vitro and the functional consequences of mutations evaluated using RNAseq, proteomics, and advanced microscopy techniques.
Faculty Research Themes
School Research Themes
Honours, Master of Biomedical Science
Students who are interested in joining this project will need to consider their elegibility as well as other requirements before contacting the supervisor of this research
For further information about this research, please contact a supervisor.
Research NodeRoyal Children’s Hospital/Murdoch Childrens Research Institute
MDHS Research library
Explore by researcher, school, project or topic.